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    TBC1D1 TBC1 domain family member 1 [ Homo sapiens (human) ]

    Gene ID: 23216, updated on 7-Apr-2024

    Summary

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    Official Symbol
    TBC1D1provided by HGNC
    Official Full Name
    TBC1 domain family member 1provided by HGNC
    Primary source
    HGNC:HGNC:11578
    See related
    Ensembl:ENSG00000065882 MIM:609850; AllianceGenome:HGNC:11578
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TBC; TBC1
    Summary
    TBC1D1 is the founding member of a family of proteins sharing a 180- to 200-amino acid TBC domain presumed to have a role in regulating cell growth and differentiation. These proteins share significant homology with TRE2 (USP6; MIM 604334), yeast Bub2, and CDC16 (MIM 603461) (White et al., 2000 [PubMed 10965142]).[supplied by OMIM, Mar 2008]
    Expression
    Ubiquitous expression in endometrium (RPKM 22.4), kidney (RPKM 18.2) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TBC1D1 in Genome Data Viewer
    Location:
    4p14
    Exon count:
    33
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (37891084..38139173)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (37860161..38108248)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (37892705..38140794)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:37828481-37828980 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:37827979-37828480 Neighboring gene phosphoglucomutase 2 Neighboring gene Sharpr-MPRA regulatory region 10943 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:37882909-37883409 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15351 Neighboring gene heterogeneous nuclear ribonucleoprotein R pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15352 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21417 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15353 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21418 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:37901172-37901710 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:37902885-37903448 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:37955381-37956580 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15354 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15355 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15356 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15357 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21419 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_79216 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21420 Neighboring gene pituitary tumor-transforming 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:38002662-38002840 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_79245 Neighboring gene Sharpr-MPRA regulatory region 1196 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:38021983-38023182 Neighboring gene proteasome activator subunit 2 pseudogene 4 Neighboring gene mitochondrial ribosomal protein S33 pseudogene 2 Neighboring gene skeletal muscle cis-regulatory module in TBC1D1 intron Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:38055939-38057138 Neighboring gene uncharacterized LOC124900692 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_79330 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:38069109-38069610 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:38069611-38070110 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21421 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21422 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21423 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21424 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_79381 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:38107743-38108418 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:38119811-38120312 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:38129774-38130627 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:38130628-38131480 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15358 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_79448 Neighboring gene uncharacterized LOC124900693 Neighboring gene Sharpr-MPRA regulatory region 4886 Neighboring gene NANOG hESC enhancer GRCh37_chr4:38162468-38162969 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21427 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21428 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21429 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_79551 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_79567 Neighboring gene uncharacterized LOC105374408 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:38244857-38245358

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Structural and population-based evaluations of TBC1D1 p.Arg125Trp. Richardson TG, et al. PLoS One, 2013. PMID 23667688, Free PMC Article
    2. Exploratory study on association of genetic variation in TBC1D1 with antipsychotic-induced weight gain. Brandl EJ, et al. Hum Psychopharmacol, 2013 Mar. PMID 23364847
    3. Exercise alleviates lipid-induced insulin resistance in human skeletal muscle-signaling interaction at the level of TBC1 domain family member 4. Pehmøller C, et al. Diabetes, 2012 Nov. PMID 22851577, Free PMC Article
    4. Exercise increases TBC1D1 phosphorylation in human skeletal muscle. Jessen N, et al. Am J Physiol Endocrinol Metab, 2011 Jul. PMID 21505148, Free PMC Article
    5. R125W coding variant in TBC1D1 confers risk for familial obesity and contributes to linkage on chromosome 4p14 in the French population. Meyre D, et al. Hum Mol Genet, 2008 Jun 15. PMID 18325908

    See all (62) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Novel prognostic biomarker TBC1D1 is associated with immunotherapy resistance in gliomas.
      Title: Novel prognostic biomarker TBC1D1 is associated with immunotherapy resistance in gliomas.
    2. TBC1D1 represses glioma progression by altering the integrity of the cytoskeleton.
      Title: TBC1D1 represses glioma progression by altering the integrity of the cytoskeleton.
    3. Does TBC1D4 (AS160) or TBC1D1 Deficiency Affect the Expression of Fatty Acid Handling Proteins in the Adipocytes Differentiated from Human Adipose-Derived Mesenchymal Stem Cells (ADMSCs) Obtained from Subcutaneous and Visceral Fat Depots?
      Title: Does TBC1D4 (AS160) or TBC1D1 Deficiency Affect the Expression of Fatty Acid Handling Proteins in the Adipocytes Differentiated from Human Adipose-Derived Mesenchymal Stem Cells (ADMSCs) Obtained from Subcutaneous and Visceral Fat Depots?
    4. Sex and fiber type independently influence AMPK, TBC1D1, and TBC1D4 at rest and during recovery from high-intensity exercise in humans.
      Title: Sex and fiber type independently influence AMPK, TBC1D1, and TBC1D4 at rest and during recovery from high-intensity exercise in humans.
    5. TBC1D1 interacting proteins, VPS13A and VPS13C, regulate GLUT4 homeostasis in C2C12 myotubes.
      Title: TBC1D1 interacting proteins, VPS13A and VPS13C, regulate GLUT4 homeostasis in C2C12 myotubes.
    6. WNK1 phosphorylation sites in TBC1D1 and TBC1D4 modulate cell surface expression of GLUT1
      Title: WNK1 phosphorylation sites in TBC1D1 and TBC1D4 modulate cell surface expression of GLUT1.
    7. TBC1D1-Ser(231) phosphorylation and/or 14-3-3 binding partially mediates AMPK-governed glucose homeostasis and muscle glucose uptake in a context-dependent manner.
      Title: A Tbc1d1 (Ser231Ala)-knockin mutation partially impairs AICAR- but not exercise-induced muscle glucose uptake in mice.
    8. data demonstrate heterozygous deactivating TBC1D1 mutations in CAKUT patients with a similar renal and ureteral phenotype, and provide evidence that TBC1D1 mutations may contribute to CAKUT
      Title: Whole-exome sequencing identifies mutations of TBC1D1 encoding a Rab-GTPase-activating protein in patients with congenital anomalies of the kidneys and urinary tract (CAKUT).
    9. AS160 and TBC1D1 phosphorylations were evident 30 min after exercise.
      Title: Sustained AS160 and TBC1D1 phosphorylations in human skeletal muscle 30 min after a single bout of exercise.
    10. Data show that TBC1D1 is expressed and phosphorylated in response to glucose in these cells.
      Title: Expression, phosphorylation and function of the Rab-GTPase activating protein TBC1D1 in pancreatic beta-cells.
    Submit: New GeneRIF Correction See all GeneRIFs (23)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies 2 susceptibility Loci for Crohn's disease in a Japanese population.
    EBI GWAS Catalog
    Genome-wide association study of Crohn's disease in Koreans revealed three new susceptibility loci and common attributes of genetic susceptibility across ethnic populations.
    EBI GWAS Catalog
    Genome-wide association study of periodontal pathogen colonization.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA1108

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in activation of GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    NOT involved_in regulation of cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    TBC1 domain family member 1
    Names
    TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001253912.2 → NP_001240841.1  TBC1 domain family member 1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has multiple differences in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AK074954, AK295746, AW364769, BC050321, BQ672157, CR996632, DB036208
      Consensus CDS
      CCDS58897.1
      UniProtKB/Swiss-Prot
      Q86TI0
      UniProtKB/TrEMBL
      Q8NC59
      Related
      ENSP00000423651.1, ENST00000508802.5
      Conserved Domains (5) summary
      smart00164
      Location:891 → 1028
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cd00934
      Location:21 → 150
      PTB; Phosphotyrosine-binding (PTB) PH-like fold
      cd01269
      Location:164 → 371
      PTB_TBC1D1_like; TBC1 domain family member 1 and related proteins Phosphotyrosine-binding (PTB) domain
      pfam09786
      Location:543 → 838
      CytochromB561_N; Cytochrome B561, N terminal
      pfam11830
      Location:789 → 839
      DUF3350; Domain of unknown function (DUF3350)

    2. NM_001253913.2 → NP_001240842.1  TBC1 domain family member 1 isoform 3

      See identical proteins and their annotated locations for NP_001240842.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a large portion of the 5' coding region and initiates translation at a downstream, in-frame start codon, compared to variant 1. Variants 3 and 4 encode the same isoform (3), which has a significantly shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC098680, AC108933, AK057182, AK074954, AW364769
      UniProtKB/TrEMBL
      Q8NC59
      Conserved Domains (2) summary
      smart00164
      Location:2 → 111
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      COG1196
      Location:146 → 246
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    3. NM_001253914.2 → NP_001240843.1  TBC1 domain family member 1 isoform 3

      See identical proteins and their annotated locations for NP_001240843.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, lacks a large portion of the 5' coding region and initiates translation at a downstream, in-frame start codon, compared to variant 1. Variants 3 and 4 encode the same isoform (3), which has a significantly shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AK074954, CR996632
      UniProtKB/TrEMBL
      Q8NC59
      Related
      ENST00000407365.5
      Conserved Domains (2) summary
      smart00164
      Location:2 → 111
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      COG1196
      Location:146 → 246
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    4. NM_001253915.2 → NP_001240844.1  TBC1 domain family member 1 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, lacks a large portion of the 5' coding region and initiates translation at a downstream, in-frame start codon, compared to variant 1. The encoded isoform (4) has a significantly shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AK074954, BC032337, CR996632
      UniProtKB/TrEMBL
      Q8NC59

    5. NM_001396959.1 → NP_001383888.1  TBC1 domain family member 1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC021106, AC098680, AC108933
      Consensus CDS
      CCDS93491.1
      UniProtKB/TrEMBL
      A0A8V8TNS9
      Related
      ENSP00000513987.1, ENST00000698857.1
      Conserved Domains (5) summary
      smart00164
      Location:891 → 1108
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      COG1196
      Location:1131 → 1241
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd00934
      Location:21 → 150
      PTB; Phosphotyrosine-binding (PTB) PH-like fold
      cd01269
      Location:164 → 371
      PTB_TBC1D1_like; TBC1 domain family member 1 and related proteins Phosphotyrosine-binding (PTB) domain
      pfam11830
      Location:784 → 839
      DUF3350; Domain of unknown function (DUF3350)

    6. NM_015173.4 → NP_055988.2  TBC1 domain family member 1 isoform 1

      See identical proteins and their annotated locations for NP_055988.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AB449881, AK074954, BC014529, BC050321, DB036208
      Consensus CDS
      CCDS33972.1
      UniProtKB/Swiss-Prot
      B7Z3D9, E9PGH8, Q86TI0, Q96K82, Q9UPP4
      UniProtKB/TrEMBL
      B9A6J6
      Related
      ENSP00000261439.4, ENST00000261439.9
      Conserved Domains (4) summary
      smart00164
      Location:797 → 1014
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cd00934
      Location:21 → 150
      PTB; Phosphotyrosine-binding (PTB) PH-like fold
      cd01269
      Location:164 → 371
      PTB_TBC1D1_like; TBC1 domain family member 1 and related proteins Phosphotyrosine-binding (PTB) domain
      pfam11830
      Location:695 → 745
      DUF3350; Domain of unknown function (DUF3350)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      37891084..38139173
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011513659.3 → XP_011511961.1  TBC1 domain family member 1 isoform X1

      Conserved Domains (5) summary
      smart00164
      Location:924 → 1141
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cd00934
      Location:21 → 150
      PTB; Phosphotyrosine-binding (PTB) PH-like fold
      cd01269
      Location:164 → 391
      PTB_TBC1D1_like; TBC1 domain family member 1 and related proteins Phosphotyrosine-binding (PTB) domain
      pfam09786
      Location:563 → 871
      CytochromB561_N; Cytochrome B561, N terminal
      pfam11830
      Location:822 → 872
      DUF3350; Domain of unknown function (DUF3350)

    2. XM_011513660.4 → XP_011511962.1  TBC1 domain family member 1 isoform X2

      Conserved Domains (5) summary
      smart00164
      Location:911 → 1128
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cd00934
      Location:21 → 150
      PTB; Phosphotyrosine-binding (PTB) PH-like fold
      cd01269
      Location:164 → 391
      PTB_TBC1D1_like; TBC1 domain family member 1 and related proteins Phosphotyrosine-binding (PTB) domain
      pfam09786
      Location:563 → 858
      CytochromB561_N; Cytochrome B561, N terminal
      pfam11830
      Location:809 → 859
      DUF3350; Domain of unknown function (DUF3350)

    3. XM_011513662.4 → XP_011511964.1  TBC1 domain family member 1 isoform X4

      Conserved Domains (4) summary
      smart00164
      Location:884 → 1101
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cd00934
      Location:21 → 150
      PTB; Phosphotyrosine-binding (PTB) PH-like fold
      cd01269
      Location:164 → 391
      PTB_TBC1D1_like; TBC1 domain family member 1 and related proteins Phosphotyrosine-binding (PTB) domain
      pfam11830
      Location:782 → 832
      DUF3350; Domain of unknown function (DUF3350)

    4. XM_011513663.4 → XP_011511965.1  TBC1 domain family member 1 isoform X5

      Conserved Domains (4) summary
      smart00164
      Location:871 → 1088
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cd00934
      Location:21 → 150
      PTB; Phosphotyrosine-binding (PTB) PH-like fold
      cd01269
      Location:164 → 391
      PTB_TBC1D1_like; TBC1 domain family member 1 and related proteins Phosphotyrosine-binding (PTB) domain
      pfam11830
      Location:769 → 819
      DUF3350; Domain of unknown function (DUF3350)

    5. XM_011513664.4 → XP_011511966.1  TBC1 domain family member 1 isoform X6

      Conserved Domains (4) summary
      smart00164
      Location:870 → 1087
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cd00934
      Location:21 → 150
      PTB; Phosphotyrosine-binding (PTB) PH-like fold
      cd01269
      Location:164 → 391
      PTB_TBC1D1_like; TBC1 domain family member 1 and related proteins Phosphotyrosine-binding (PTB) domain
      pfam11830
      Location:768 → 818
      DUF3350; Domain of unknown function (DUF3350)

    6. XM_017007918.3 → XP_016863407.1  TBC1 domain family member 1 isoform X8

    7. XM_011513665.4 → XP_011511967.1  TBC1 domain family member 1 isoform X11

      Conserved Domains (4) summary
      smart00164
      Location:830 → 1047
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cd00934
      Location:21 → 150
      PTB; Phosphotyrosine-binding (PTB) PH-like fold
      cd01269
      Location:164 → 391
      PTB_TBC1D1_like; TBC1 domain family member 1 and related proteins Phosphotyrosine-binding (PTB) domain
      pfam11830
      Location:728 → 778
      DUF3350; Domain of unknown function (DUF3350)

    8. XM_011513666.4 → XP_011511968.1  TBC1 domain family member 1 isoform X12

      Conserved Domains (4) summary
      smart00164
      Location:817 → 1034
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cd00934
      Location:21 → 150
      PTB; Phosphotyrosine-binding (PTB) PH-like fold
      cd01269
      Location:164 → 391
      PTB_TBC1D1_like; TBC1 domain family member 1 and related proteins Phosphotyrosine-binding (PTB) domain
      pfam11830
      Location:715 → 765
      DUF3350; Domain of unknown function (DUF3350)

    9. XM_005262646.4 → XP_005262703.1  TBC1 domain family member 1 isoform X3

      See identical proteins and their annotated locations for XP_005262703.1

      Conserved Domains (5) summary
      smart00164
      Location:904 → 1121
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      COG1196
      Location:1144 → 1254
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd00934
      Location:21 → 150
      PTB; Phosphotyrosine-binding (PTB) PH-like fold
      cd01269
      Location:164 → 371
      PTB_TBC1D1_like; TBC1 domain family member 1 and related proteins Phosphotyrosine-binding (PTB) domain
      pfam11830
      Location:797 → 852
      DUF3350; Domain of unknown function (DUF3350)

    10. XM_047449888.1 → XP_047305844.1  TBC1 domain family member 1 isoform X7

    11. XM_017007919.3 → XP_016863408.1  TBC1 domain family member 1 isoform X9

    12. XM_047449889.1 → XP_047305845.1  TBC1 domain family member 1 isoform X10

    13. XM_017007920.3 → XP_016863409.1  TBC1 domain family member 1 isoform X13

      Conserved Domains (4) summary
      smart00164
      Location:810 → 1027
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      COG1196
      Location:1050 → 1160
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd00934
      Location:21 → 150
      PTB; Phosphotyrosine-binding (PTB) PH-like fold
      cd01269
      Location:164 → 371
      PTB_TBC1D1_like; TBC1 domain family member 1 and related proteins Phosphotyrosine-binding (PTB) domain

    14. XM_011513668.3 → XP_011511970.1  TBC1 domain family member 1 isoform X24

      Conserved Domains (2) summary
      cd00934
      Location:21 → 150
      PTB; Phosphotyrosine-binding (PTB) PH-like fold
      cd01269
      Location:164 → 391
      PTB_TBC1D1_like; TBC1 domain family member 1 and related proteins Phosphotyrosine-binding (PTB) domain

    15. XM_047449890.1 → XP_047305846.1  TBC1 domain family member 1 isoform X14

      UniProtKB/Swiss-Prot
      B7Z3D9, E9PGH8, Q86TI0, Q96K82, Q9UPP4
      UniProtKB/TrEMBL
      B9A6J6

    16. XM_047449897.1 → XP_047305853.1  TBC1 domain family member 1 isoform X22

      Related
      ENSP00000421641.3, ENST00000510573.6

    17. XM_047449891.1 → XP_047305847.1  TBC1 domain family member 1 isoform X15

    18. XM_005262649.4 → XP_005262706.1  TBC1 domain family member 1 isoform X16

      Conserved Domains (4) summary
      smart00164
      Location:775 → 992
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cd01269
      Location:35 → 242
      PTB_TBC1D1_like; TBC1 domain family member 1 and related proteins Phosphotyrosine-binding (PTB) domain
      pfam09786
      Location:414 → 722
      CytochromB561_N; Cytochrome B561, N terminal
      pfam11830
      Location:673 → 723
      DUF3350; Domain of unknown function (DUF3350)

    19. XM_047449892.1 → XP_047305848.1  TBC1 domain family member 1 isoform X17

    20. XM_047449893.1 → XP_047305849.1  TBC1 domain family member 1 isoform X18

    21. XM_047449894.1 → XP_047305850.1  TBC1 domain family member 1 isoform X19

    22. XM_047449895.1 → XP_047305851.1  TBC1 domain family member 1 isoform X20

      Related
      ENST00000698858.1

    23. XM_047449896.1 → XP_047305852.1  TBC1 domain family member 1 isoform X21

    24. XM_017007921.3 → XP_016863410.1  TBC1 domain family member 1 isoform X23

      UniProtKB/TrEMBL
      Q6PJJ8

    25. XM_011513670.4 → XP_011511972.1  TBC1 domain family member 1 isoform X25

      UniProtKB/TrEMBL
      A0JNU9
      Conserved Domains (2) summary
      smart00164
      Location:123 → 340
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      pfam11830
      Location:21 → 71
      DUF3350; Domain of unknown function (DUF3350)

    26. XM_047449898.1 → XP_047305854.1  TBC1 domain family member 1 isoform X26

      UniProtKB/TrEMBL
      Q8NC59

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      37860161..38108248
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054349390.1 → XP_054205365.1  TBC1 domain family member 1 isoform X1

    2. XM_054349391.1 → XP_054205366.1  TBC1 domain family member 1 isoform X2

    3. XM_054349393.1 → XP_054205368.1  TBC1 domain family member 1 isoform X4

    4. XM_054349394.1 → XP_054205369.1  TBC1 domain family member 1 isoform X5

    5. XM_054349395.1 → XP_054205370.1  TBC1 domain family member 1 isoform X6

    6. XM_054349397.1 → XP_054205372.1  TBC1 domain family member 1 isoform X8

    7. XM_054349400.1 → XP_054205375.1  TBC1 domain family member 1 isoform X11

    8. XM_054349401.1 → XP_054205376.1  TBC1 domain family member 1 isoform X12

    9. XM_054349392.1 → XP_054205367.1  TBC1 domain family member 1 isoform X3

    10. XM_054349396.1 → XP_054205371.1  TBC1 domain family member 1 isoform X7

    11. XM_054349398.1 → XP_054205373.1  TBC1 domain family member 1 isoform X9

    12. XM_054349399.1 → XP_054205374.1  TBC1 domain family member 1 isoform X10

    13. XM_054349402.1 → XP_054205377.1  TBC1 domain family member 1 isoform X13

    14. XM_054349411.1 → XP_054205386.1  TBC1 domain family member 1 isoform X24

    15. XM_054349403.1 → XP_054205378.1  TBC1 domain family member 1 isoform X14

      UniProtKB/Swiss-Prot
      B7Z3D9, E9PGH8, Q86TI0, Q96K82, Q9UPP4
      UniProtKB/TrEMBL
      B9A6J6

    16. XM_054349404.1 → XP_054205379.1  TBC1 domain family member 1 isoform X16

    17. XM_054349405.1 → XP_054205380.1  TBC1 domain family member 1 isoform X17

    18. XM_054349406.1 → XP_054205381.1  TBC1 domain family member 1 isoform X18

    19. XM_054349407.1 → XP_054205382.1  TBC1 domain family member 1 isoform X19

    20. XM_054349408.1 → XP_054205383.1  TBC1 domain family member 1 isoform X20

    21. XM_054349409.1 → XP_054205384.1  TBC1 domain family member 1 isoform X21

    22. XM_054349410.1 → XP_054205385.1  TBC1 domain family member 1 isoform X23

    23. XM_054349412.1 → XP_054205387.1  TBC1 domain family member 1 isoform X25

    24. XM_054349413.1 → XP_054205388.1  TBC1 domain family member 1 isoform X26

      UniProtKB/TrEMBL
      Q8NC59
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86TI0.2 GenPept UniProtKB/Swiss-Prot:Q86TI0

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