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

    Gene ID: 51256, updated on 28-Oct-2024

    Summary

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    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
    mouse all
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    Genomic context

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    See TBC1D7 in Genome Data Viewer
    Location:
    6p24.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (13304951..13328537, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (13178191..13201777, complement)
    RS_2024_09 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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. Discovery of TBC1D7 as a Potential Driver for Melanoma Cell Invasion. Qi TF, et al. Proteomics, 2020 Jul. PMID 32510182, Free PMC Article
    2. Activation of an oncogenic TBC1D7 (TBC1 domain family, member 7) protein in pulmonary carcinogenesis. Sato N, et al. Genes Chromosomes Cancer, 2010 Apr. PMID 20095038
    3. Structural Basis of the Interaction between Tuberous Sclerosis Complex 1 (TSC1) and Tre2-Bub2-Cdc16 Domain Family Member 7 (TBC1D7). Qin J, et al. J Biol Chem, 2016 Apr 15. PMID 26893383, Free PMC Article
    4. Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly. Capo-Chichi JM, et al. J Med Genet, 2013 Nov. PMID 23687350
    5. TBC1D7 mutations are associated with intellectual disability, macrocrania, patellar dislocation, and celiac disease. Alfaiz AA, et al. Hum Mutat, 2014 Apr. PMID 24515783

    See all (49) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. KIF2C: a novel link between Wnt/beta-catenin and mTORC1 signaling in the pathogenesis of hepatocellular carcinoma.
      Title: KIF2C: a novel link between Wnt/β-catenin and mTORC1 signaling in the pathogenesis of hepatocellular carcinoma.
    2. Discovery of TBC1D7 as a Potential Driver for Melanoma Cell Invasion.
      Title: Discovery of TBC1D7 as a Potential Driver for Melanoma Cell Invasion.
    3. findings reveal that Akt activity determines the phosphorylation status of TBC1D7 at the phospho-switch Ser-124, which governs binding to either 14-3-3 or beta-TrCP2, resulting in increased or decreased stability of TBC1D7, respectively.
      Title: The tuberous sclerosis complex subunit TBC1D7 is stabilized by Akt phosphorylation-mediated 14-3-3 binding.
    4. Each TBC1D7 molecule interacts simultaneously with two parallel TSC1 helices from two TSC1 molecules, suggesting that TBC1D7 may stabilize the TSC complex by tethering the C-terminal ends of two TSC1 coiled-coils.
      Title: Structural Basis of the Interaction between Tuberous Sclerosis Complex 1 (TSC1) and Tre2-Bub2-Cdc16 Domain Family Member 7 (TBC1D7).
    5. DNA mutational studies allow enlarging the phenotypic spectrum associated with TBC1D7 mutations and defining a TBC1D7 syndrome.
      Title: TBC1D7 mutations are associated with intellectual disability, macrocrania, patellar dislocation, and celiac disease.
    6. Study suggests that disruption of TBC1D7 causes ID but without the other typical features found in TSC.
      Title: Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly.
    7. TBC1D7 knockdown results in increased mTORC1 signaling.
      Title: TBC1D7 is a third subunit of the TSC1-TSC2 complex upstream of mTORC1.
    8. Immunohistochemistry of NSCLC tumor tissue suggested an association of TBC1D7 expression with poor prognosis for NSCLC patients; Treatment of lung cancer cells using siRNA against TBC1D7, suppressed its expression and inhibited cell growth.
      Title: Activation of an oncogenic TBC1D7 (TBC1 domain family, member 7) protein in pulmonary carcinogenesis.
    Submit: New GeneRIF Correction

    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

    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

    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

    • 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 TSC1-TSC2 complex binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables small GTPase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in activation of GTPase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cellular response to starvation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of TOR signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of TOR signaling IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of TOR signaling IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of TORC1 signaling IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of GTPase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in response to growth factor IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of TSC1-TSC2 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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

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    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)

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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.

    Genomic

    1. NG_033862.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_001143964.4 → NP_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:147 → 251
      RabGAP-TBC; Rab-GTPase-TBC domain

    2. NM_001143965.4 → NP_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:147 → 251
      RabGAP-TBC; Rab-GTPase-TBC domain

    3. NM_001143966.4 → NP_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:120 → 220
      RabGAP-TBC; Rab-GTPase-TBC domain

    4. NM_001258457.3 → NP_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:129 → 201
      RabGAP-TBC; Rab-GTPase-TBC domain

    5. NM_001318805.2 → NP_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:147 → 251
      RabGAP-TBC; Rab-GTPase-TBC domain

    6. NM_001318806.2 → NP_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_016495.6 → NP_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:147 → 251
      RabGAP-TBC; Rab-GTPase-TBC domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9P0N9.1 GenPept UniProtKB/Swiss-Prot:Q9P0N9

    Gene LinkOut

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

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