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    TBC1D7 TBC1 domain family member 7 [ Homo sapiens (human) ]

    Gene ID: 51256, updated on 5-Mar-2024

    Summary

    Official Symbol
    TBC1D7provided by HGNC
    Official Full Name
    TBC1 domain family member 7provided by HGNC
    Primary source
    HGNC:HGNC:21066
    See related
    Ensembl:ENSG00000145979 MIM:612655; AllianceGenome:HGNC:21066
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TBC7; MGCPH; PIG51
    Summary
    This gene encodes a member of the TBC-domain containing protein family. The encoded protein functions as a subunit of the tuberous sclerosis TSC1-TSC2 complex which plays a role in the regulation of cellular growth and differentiation. Mutations in this gene have been associated with autosomal recessive megalencephaly. Alternative splicing results in multiple transcript variants. Naturally occurring readthrough transcription occurs between this locus and downstream LOC100130357. [provided by RefSeq, Jan 2016]
    Expression
    Ubiquitous expression in heart (RPKM 3.4), testis (RPKM 2.6) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TBC1D7 in Genome Data Viewer
    Location:
    6p24.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (13304951..13328537, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (13178191..13201777, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (13305183..13328769, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene phosphatase and actin regulator 1 Neighboring gene TBC1D7-LOC100130357 readthrough Neighboring gene uncharacterized LOC105374933 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24020 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16925 Neighboring gene Sharpr-MPRA regulatory region 805 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:13257894-13258394 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:13258395-13258895 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24021 Neighboring gene uncharacterized LOC100130357 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:13273523-13274722 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24022 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24023 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:13307473-13308672 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:13328608-13329114 Neighboring gene uncharacterized LOC124901261 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16927 Neighboring gene uncharacterized LOC105374936

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Macrocephaly/megalencephaly syndrome, autosomal recessive
    MedGen: C3806412 OMIM: 248000 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide meta-analysis identifies new susceptibility loci for migraine.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ32666, dJ257A7.3, DKFZp686N2317

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables GTPase activator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables small GTPase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of TSC1-TSC2 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of TSC1-TSC2 complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    located_in ciliary basal body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasmic vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    is_active_in lysosomal membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    TBC1 domain family member 7
    Names
    TBC domain family 7
    TS complex subunit 3
    Tre2-Bub2-Cdc16 Domain Family Member 7
    cell migration-inducing protein 23

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_033862.1 RefSeqGene

      Range
      5047..28633
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001143964.4NP_001137436.1  TBC1 domain family member 7 isoform a

      See identical proteins and their annotated locations for NP_001137436.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR compared to variant 1. Variants 1, 2, 3, and 6 encode the same isoform (a).
      Source sequence(s)
      AB449888, AK223445, BC050465, DB079098
      UniProtKB/Swiss-Prot
      E7EV96, Q2TU37, Q53F44, Q5SZL7, Q86VM8, Q96MB8, Q9P0N9
      UniProtKB/TrEMBL
      Q5SZL4
      Related
      ENSP00000394425.1, ENST00000422136.5
      Conserved Domains (1) summary
      cl02495
      Location:147251
      RabGAP-TBC; Rab-GTPase-TBC domain
    2. NM_001143965.4NP_001137437.1  TBC1 domain family member 7 isoform a

      See identical proteins and their annotated locations for NP_001137437.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the 5' UTR compared to variant 1. Variants 1, 2, 3, and 6 encode the same isoform (a).
      Source sequence(s)
      BC007054, BC050465, DB079098
      UniProtKB/Swiss-Prot
      E7EV96, Q2TU37, Q53F44, Q5SZL7, Q86VM8, Q96MB8, Q9P0N9
      UniProtKB/TrEMBL
      Q5SZL4
      Related
      ENSP00000348813.4, ENST00000356436.8
      Conserved Domains (1) summary
      cl02495
      Location:147251
      RabGAP-TBC; Rab-GTPase-TBC domain
    3. NM_001143966.4NP_001137438.1  TBC1 domain family member 7 isoform b

      See identical proteins and their annotated locations for NP_001137438.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site in the 5' UTR and lacks an in-frame exon in the 5' coding region compared to variant 1, which results in a shorter isoform (b) than isoform a.
      Source sequence(s)
      BC050465, DB079098
      Consensus CDS
      CCDS47376.1
      UniProtKB/TrEMBL
      Q5SZL6
      Related
      ENSP00000368609.2, ENST00000379307.6
      Conserved Domains (1) summary
      cl02495
      Location:120220
      RabGAP-TBC; Rab-GTPase-TBC domain
    4. NM_001258457.3NP_001245386.1  TBC1 domain family member 7 isoform c

      See identical proteins and their annotated locations for NP_001245386.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate splice site in the 5' UTR and lacks an in-frame exon in the central coding region compared to variant 1, which results in a shorter isoform (c) than isoform a.
      Source sequence(s)
      AY542308, BC050465, DB079098
      Consensus CDS
      CCDS58995.1
      UniProtKB/TrEMBL
      Q5SZL4
      Related
      ENSP00000343100.4, ENST00000343141.8
      Conserved Domains (1) summary
      cl02495
      Location:129201
      RabGAP-TBC; Rab-GTPase-TBC domain
    5. NM_001318805.2NP_001305734.1  TBC1 domain family member 7 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) uses an alternate splice site in the 5' UTR compared to variant 1. Variants 1, 2, 3, and 6 encode the same isoform (a).
      Source sequence(s)
      BC050465, BX354770, DB079098
      UniProtKB/Swiss-Prot
      E7EV96, Q2TU37, Q53F44, Q5SZL7, Q86VM8, Q96MB8, Q9P0N9
      UniProtKB/TrEMBL
      Q5SZL4
      Conserved Domains (1) summary
      cl02495
      Location:147251
      RabGAP-TBC; Rab-GTPase-TBC domain
    6. NM_001318806.2NP_001305735.1  TBC1 domain family member 7 isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) lacks multiple 3' coding exons its transcription extends past a splice site used in variant 1, resulting in a different 3' coding region and 3' UTR. The encoded isoform (d) has a shorter, distinct C-terminus compared to isoform a.
      Source sequence(s)
      AL589984, AL833474
      Consensus CDS
      CCDS83062.1
      UniProtKB/TrEMBL
      U3KPY5
      Related
      ENSP00000475355.1, ENST00000606370.5
    7. NM_016495.6NP_057579.1  TBC1 domain family member 7 isoform a

      See identical proteins and their annotated locations for NP_057579.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a). Variants 1, 2, 3, and 6 encode the same isoform (a).
      Source sequence(s)
      AF151073, BC050465, DB079098
      UniProtKB/Swiss-Prot
      E7EV96, Q2TU37, Q53F44, Q5SZL7, Q86VM8, Q96MB8, Q9P0N9
      UniProtKB/TrEMBL
      Q5SZL4
      Related
      ENSP00000368602.3, ENST00000379300.8
      Conserved Domains (1) summary
      cl02495
      Location:147251
      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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      13304951..13328537 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      13178191..13201777 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)