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    TBC1D28 TBC1 domain family member 28 [ Homo sapiens (human) ]

    Gene ID: 254272, updated on 5-Mar-2024

    Summary

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    Official Symbol
    TBC1D28provided by HGNC
    Official Full Name
    TBC1 domain family member 28provided by HGNC
    Primary source
    HGNC:HGNC:26858
    See related
    Ensembl:ENSG00000189375 AllianceGenome:HGNC:26858
    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
    Summary
    Predicted to enable GTPase activator activity. Predicted to be involved in activation of GTPase activity and intracellular protein transport. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Restricted expression toward testis (RPKM 3.9) See more
    Orthologs
    all
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    Genomic context

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    See TBC1D28 in Genome Data Viewer
    Location:
    17p11.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (18634247..18644391, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (18581077..18591222, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (18537560..18547704, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 144B, pseudogene Neighboring gene ribosomal protein S28 pseudogene 9 Neighboring gene uncharacterized LOC107985051 Neighboring gene Sharpr-MPRA regulatory region 6133 Neighboring gene uncharacterized LOC124903945 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:18548171-18548672 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:18553597-18554097 Neighboring gene PAIP1 pseudogene 2 Neighboring gene zinc finger protein 286B (pseudogene) Neighboring gene forkhead box O3B Neighboring gene ubiquitin conjugating enzyme E2 S pseudogene 2

    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. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. Fasci D, et al. Mol Cell Proteomics, 2018 Oct. PMID 30021884, Free PMC Article
    2. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
    4. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ40244, MGC138217, MGC138221

    General protein information

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    Preferred Names
    TBC1 domain family member 28

    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_001039397.3 → NP_001034486.2  TBC1 domain family member 28

      See identical proteins and their annotated locations for NP_001034486.2

      Status: VALIDATED

      Source sequence(s)
      AC026271
      Consensus CDS
      CCDS42273.1
      UniProtKB/Swiss-Prot
      Q2M2D7, Q2M2E1
      Related
      ENSP00000385821.1, ENST00000405044.7
      Conserved Domains (1) summary
      cl02495
      Location:102 → 182
      RabGAP-TBC; Rab-GTPase-TBC domain

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      18634247..18644391 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017024419.3 → XP_016879908.1  TBC1 domain family member 28 isoform X1

    2. XM_017024423.2 → XP_016879912.1  TBC1 domain family member 28 isoform X4

    3. XM_017024416.3 → XP_016879905.1  TBC1 domain family member 28 isoform X1

    4. XM_017024421.3 → XP_016879910.1  TBC1 domain family member 28 isoform X1

    5. XM_017024417.3 → XP_016879906.1  TBC1 domain family member 28 isoform X1

    6. XM_017024420.2 → XP_016879909.1  TBC1 domain family member 28 isoform X1

    7. XM_017024418.3 → XP_016879907.1  TBC1 domain family member 28 isoform X1

    8. XM_047435718.1 → XP_047291674.1  TBC1 domain family member 28 isoform X3

    9. XM_017024422.2 → XP_016879911.1  TBC1 domain family member 28 isoform X2

    10. XM_011523783.4 → XP_011522085.1  TBC1 domain family member 28 isoform X5

      Conserved Domains (1) summary
      smart00164
      Location:143 → 223
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      18581077..18591222 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054315647.1 → XP_054171622.1  TBC1 domain family member 28 isoform X1

    2. XM_054315652.1 → XP_054171627.1  TBC1 domain family member 28 isoform X4

    3. XM_054315650.1 → XP_054171625.1  TBC1 domain family member 28 isoform X2

    4. XM_054315644.1 → XP_054171619.1  TBC1 domain family member 28 isoform X1

    5. XM_054315649.1 → XP_054171624.1  TBC1 domain family member 28 isoform X1

    6. XM_054315646.1 → XP_054171621.1  TBC1 domain family member 28 isoform X1

    7. XM_054315648.1 → XP_054171623.1  TBC1 domain family member 28 isoform X1

    8. XM_054315645.1 → XP_054171620.1  TBC1 domain family member 28 isoform X1

    9. XM_054315651.1 → XP_054171626.1  TBC1 domain family member 28 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q2M2D7.1 GenPept UniProtKB/Swiss-Prot:Q2M2D7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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