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Tbc1d7 TBC1 domain family, member 7 [ Mus musculus (house mouse) ]

Gene ID: 67046, updated on 5-Mar-2024

Summary

Official Symbol
Tbc1d7provided by MGI
Official Full Name
TBC1 domain family, member 7provided by MGI
Primary source
MGI:MGI:1914296
See related
Ensembl:ENSMUSG00000021368 AllianceGenome:MGI:1914296
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
2610009C09Rik
Summary
Predicted to enable GTPase activator activity and small GTPase binding activity. Involved in activation of GTPase activity and negative regulation of TOR signaling. Predicted to be located in ciliary basal body and cytoplasmic vesicle. Is expressed in adrenal medulla; cranial ganglion; and dorsal root ganglion. Orthologous to human TBC1D7 (TBC1 domain family member 7). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in CNS E18 (RPKM 9.2), whole brain E14.5 (RPKM 9.2) and 28 other tissues See more
Orthologs
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Genomic context

See Tbc1d7 in Genome Data Viewer
Location:
13 A4; 13 21.31 cM
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 13 NC_000079.7 (43305214..43324977, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 13 NC_000079.6 (43151740..43171501, complement)

Chromosome 13 - NC_000079.7Genomic Context describing neighboring genes Neighboring gene phosphatase and actin regulator 1 Neighboring gene predicted gene, 52053 Neighboring gene predicted gene 15813 Neighboring gene STARR-positive B cell enhancer ABC_E9398 Neighboring gene predicted gene, 40929 Neighboring gene STARR-seq mESC enhancer starr_34334 Neighboring gene glucose-fructose oxidoreductase domain containing 1 Neighboring gene predicted gene, 53215

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables GTPase activator activity ISO
Inferred from Sequence Orthology
more info
 
enables small GTPase binding ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
involved_in activation of GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in activation of GTPase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in activation of GTPase activity ISO
Inferred from Sequence Orthology
more info
 
involved_in cellular response to starvation ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of TOR signaling IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in negative regulation of TOR signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of TOR signaling ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of TORC1 signaling ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of cilium assembly ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of GTPase activity ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of protein ubiquitination ISO
Inferred from Sequence Orthology
more info
 
involved_in response to growth factor ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
part_of TSC1-TSC2 complex ISO
Inferred from Sequence Orthology
more info
 
located_in ciliary basal body ISO
Inferred from Sequence Orthology
more info
 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in cytoplasmic vesicle ISO
Inferred from Sequence Orthology
more info
 
located_in cytosol ISO
Inferred from Sequence Orthology
more info
 
is_active_in lysosomal membrane ISO
Inferred from Sequence Orthology
more info
 
located_in lysosome IEA
Inferred from Electronic Annotation
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
TBC1 domain family member 7

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_001252639.1NP_001239568.1  TBC1 domain family member 7 isoform 1

    See identical proteins and their annotated locations for NP_001239568.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1). Variants 1 and 2 encode the same isoform.
    Source sequence(s)
    BC145157, BY166141, DN174647
    Consensus CDS
    CCDS26476.1
    UniProtKB/Swiss-Prot
    B7ZNC1, Q05AE0, Q3U0V0, Q9D0K0
    UniProtKB/TrEMBL
    A0A1Y7VN27
    Related
    ENSMUSP00000137280.2, ENSMUST00000179852.9
    Conserved Domains (1) summary
    cl02495
    Location:147247
    RabGAP-TBC; Rab-GTPase-TBC domain
  2. NM_001252640.1NP_001239569.1  TBC1 domain family member 7 isoform 2

    See identical proteins and their annotated locations for NP_001239569.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) has an alternate splice site in the 3' coding region, compared to variant 1. The reading frame is not affected and the resulting isoform (3) lacks an internal segment, compared to isoform 1.
    Source sequence(s)
    BC145156, BY166141, DN174647
    Consensus CDS
    CCDS88446.1
    UniProtKB/TrEMBL
    A0A1Y7VN27
    Related
    ENSMUSP00000152358.2, ENSMUST00000220787.2
    Conserved Domains (1) summary
    cl02495
    Location:145225
    RabGAP-TBC; Rab-GTPase-TBC domain
  3. NM_025935.3NP_080211.1  TBC1 domain family member 7 isoform 1

    See identical proteins and their annotated locations for NP_080211.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) has an alternate splice site in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AK011356, BY166141, DN174647
    Consensus CDS
    CCDS26476.1
    UniProtKB/Swiss-Prot
    B7ZNC1, Q05AE0, Q3U0V0, Q9D0K0
    UniProtKB/TrEMBL
    A0A1Y7VN27
    Related
    ENSMUSP00000021797.9, ENSMUST00000021797.9
    Conserved Domains (1) summary
    cl02495
    Location:147247
    RabGAP-TBC; Rab-GTPase-TBC domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000079.7 Reference GRCm39 C57BL/6J

    Range
    43305214..43324977 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036158132.1XP_036014025.1  TBC1 domain family member 7 isoform X1

    UniProtKB/TrEMBL
    A0A1Y7VN27
    Related
    ENSMUSP00000152208.2, ENSMUST00000222160.2
    Conserved Domains (1) summary
    cl02495
    Location:145225
    RabGAP-TBC; Rab-GTPase-TBC domain
  2. XM_006516945.4XP_006517008.1  TBC1 domain family member 7 isoform X2

    Conserved Domains (1) summary
    cl02495
    Location:92198
    RabGAP-TBC; Rab-GTPase-TBC domain