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

Gene ID: 51256, updated on 9-Feb-2020

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
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

Genomic context

See TBC1D7 in Genome Data Viewer
Location:
6p24.1
Exon count:
8
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (13304951..13328583, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (13305183..13328787, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene phosphatase and actin regulator 1 Neighboring gene TBC1D7-LOC100130357 readthrough Neighboring gene Sharpr-MPRA regulatory region 805 Neighboring gene uncharacterized LOC100130357 Neighboring gene uncharacterized LOC105374936 Neighboring gene glucose-fructose oxidoreductase domain containing 1

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

NHGRI GWAS Catalog

Description
Genome-wide meta-analysis identifies new susceptibility loci for migraine.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ32666, dJ257A7.3, DKFZp686N2317

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GTPase activator activity IDA
Inferred from Direct Assay
more info
PubMed 
Rab GTPase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Rab GTPase binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
activation of GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
activation of GTPase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of TOR signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of TOR signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of GTPase activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of protein ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
response to growth factor IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
ciliary basal body IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasmic vesicle IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
TBC1 domain family member 7
Names
TS complex subunit 3
cell migration-inducing protein 23

NCBI Reference Sequences (RefSeq)

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_001143964.3NP_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
    Consensus CDS
    CCDS4523.1
    UniProtKB/Swiss-Prot
    Q9P0N9
    UniProtKB/TrEMBL
    A0A024QZX0
    Related
    ENSP00000394425.1, ENST00000422136.5
    Conserved Domains (1) summary
    cl02495
    Location:147251
    RabGAP-TBC; Rab-GTPase-TBC domain
  2. NM_001143965.3NP_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
    Consensus CDS
    CCDS4523.1
    UniProtKB/Swiss-Prot
    Q9P0N9
    UniProtKB/TrEMBL
    A0A024QZX0
    Related
    ENSP00000348813.4, ENST00000356436.8
    Conserved Domains (1) summary
    cl02495
    Location:147251
    RabGAP-TBC; Rab-GTPase-TBC domain
  3. NM_001143966.3NP_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/Swiss-Prot
    Q9P0N9
    UniProtKB/TrEMBL
    A0A024R011
    Related
    ENSP00000368609.2, ENST00000379307.6
    Conserved Domains (1) summary
    cl02495
    Location:120220
    RabGAP-TBC; Rab-GTPase-TBC domain
  4. NM_001258457.2NP_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/Swiss-Prot
    Q9P0N9
    Related
    ENSP00000343100.4, ENST00000343141.8
    Conserved Domains (1) summary
    cl02495
    Location:129201
    RabGAP-TBC; Rab-GTPase-TBC domain
  5. NM_001318805.1NP_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
    Consensus CDS
    CCDS4523.1
    UniProtKB/Swiss-Prot
    Q9P0N9
    UniProtKB/TrEMBL
    A0A024QZX0
    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
    Q5JPB9, 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
    Consensus CDS
    CCDS4523.1
    UniProtKB/Swiss-Prot
    Q9P0N9
    UniProtKB/TrEMBL
    A0A024QZX0
    Related
    ENSP00000368602.3, ENST00000379300.8
    Conserved Domains (1) summary
    cl02495
    Location:147251
    RabGAP-TBC; Rab-GTPase-TBC domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    13304951..13328583 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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