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TBC1D12 TBC1 domain family member 12 [ Homo sapiens (human) ]

Gene ID: 23232, updated on 13-Aug-2022

Summary

Official Symbol
TBC1D12provided by HGNC
Official Full Name
TBC1 domain family member 12provided by HGNC
Primary source
HGNC:HGNC:29082
See related
Ensembl:ENSG00000108239 MIM:620003; AllianceGenome:HGNC:29082
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; intracellular protein transport; and regulation of autophagosome assembly. Predicted to be active in autophagosome and recycling endosome. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in brain (RPKM 6.6), testis (RPKM 5.3) and 25 other tissues See more
Orthologs
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Genomic context

See TBC1D12 in Genome Data Viewer
Location:
10q23.33
Exon count:
17
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (94402541..94536332)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (95281640..95415444)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (96162298..96296089)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene phospholipase C epsilon 1 Neighboring gene PLCE1 antisense RNA 1 Neighboring gene NOC3 like DNA replication regulator Neighboring gene helicase, lymphoid specific Neighboring gene CTBP2 pseudogene 2

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10339, FLJ12820, KIAA0608

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in activation of GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of autophagosome assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in autophagosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in recycling endosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
TBC1 domain family member 12

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_015188.2NP_056003.1  TBC1 domain family member 12

    See identical proteins and their annotated locations for NP_056003.1

    Status: VALIDATED

    Source sequence(s)
    AB011180, AL138759, DA808973
    Consensus CDS
    CCDS41553.1
    UniProtKB/Swiss-Prot
    O60347, Q9UG83
    Related
    ENSP00000225235.4, ENST00000225235.5
    Conserved Domains (1) summary
    smart00164
    Location:481712
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    94402541..94536332
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006717732.5XP_006717795.2  TBC1 domain family member 12 isoform X1

    Conserved Domains (1) summary
    pfam00566
    Location:487685
    RabGAP-TBC; Rab-GTPase-TBC domain
  2. XM_011539558.4XP_011537860.1  TBC1 domain family member 12 isoform X4

    Conserved Domains (1) summary
    smart00164
    Location:179410
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  3. XM_047424905.1XP_047280861.1  TBC1 domain family member 12 isoform X2

  4. XM_047424906.1XP_047280862.1  TBC1 domain family member 12 isoform X3

  5. XM_017015999.3XP_016871488.1  TBC1 domain family member 12 isoform X5

    Conserved Domains (1) summary
    smart00164
    Location:58289
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  6. XM_047424907.1XP_047280863.1  TBC1 domain family member 12 isoform X5

  7. XM_017015998.3XP_016871487.1  TBC1 domain family member 12 isoform X5

    Conserved Domains (1) summary
    smart00164
    Location:58289
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

RNA

  1. XR_945637.3 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    95281640..95415444
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)