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TBC1D14 TBC1 domain family member 14 [ Homo sapiens (human) ]

Gene ID: 57533, updated on 7-Jun-2020

Summary

Official Symbol
TBC1D14provided by HGNC
Official Full Name
TBC1 domain family member 14provided by HGNC
Primary source
HGNC:HGNC:29246
See related
Ensembl:ENSG00000132405 MIM:614855
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
Expression
Ubiquitous expression in kidney (RPKM 20.3), brain (RPKM 18.5) and 25 other tissues See more
Orthologs

Genomic context

See TBC1D14 in Genome Data Viewer
Location:
4p16.1
Exon count:
22
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (6909444..7033118)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (6911171..7034845)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374367 Neighboring gene KIAA0232 Neighboring gene RN7SK pseudogene 292 Neighboring gene uncharacterized LOC100129931 Neighboring gene coiled-coil domain containing 96 Neighboring gene transcriptional adaptor 2B

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

NHGRI GWAS Catalog

Description
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ32400, KIAA1322

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Rab GTPase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase 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 
autophagy IEA
Inferred from Electronic Annotation
more info
 
intracellular protein transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of autophagy IMP
Inferred from Mutant Phenotype
more info
PubMed 
recycling endosome to Golgi transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of autophagosome assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of autophagosome assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
NOT regulation of cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
 
autophagosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
autophagosome IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IEA
Inferred from Electronic Annotation
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
recycling endosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
recycling endosome IDA
Inferred from Direct Assay
more info
PubMed 
recycling endosome TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
TBC1 domain family member 14

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.

mRNA and Protein(s)

  1. NM_001113361.1NP_001106832.1  TBC1 domain family member 14 isoform a

    See identical proteins and their annotated locations for NP_001106832.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Both variants 1 and 2 encode the same isoform (a).
    Source sequence(s)
    AA724344, AB037743, BC041167, DA317176, DA492919
    Consensus CDS
    CCDS3394.2
    UniProtKB/Swiss-Prot
    Q9P2M4
    Related
    ENSP00000404041.1, ENST00000448507.5
    Conserved Domains (2) summary
    COG5210
    Location:225635
    COG5210; GTPase-activating protein [General function prediction only]
    pfam00566
    Location:464630
    RabGAP-TBC; Rab-GTPase-TBC domain
  2. NM_001113363.2NP_001106834.1  TBC1 domain family member 14 isoform b

    See identical proteins and their annotated locations for NP_001106834.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks part of the 5' coding region, contains an alternate 5'-terminal exon, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (b) has a shorter N-terminus, compared to isoform a.
    Source sequence(s)
    AA724344, AB037743, BC041167, BQ230652
    Consensus CDS
    CCDS47006.1
    UniProtKB/Swiss-Prot
    Q9P2M4
    Related
    ENSP00000388886.2, ENST00000451522.6
    Conserved Domains (1) summary
    smart00164
    Location:118350
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  3. NM_001286805.1NP_001273734.1  TBC1 domain family member 14 isoform c

    See identical proteins and their annotated locations for NP_001273734.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks part of the 5' coding region, contains an alternate 5'-terminal exon, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (c) has a shorter N-terminus, compared to isoform a.
    Source sequence(s)
    AA724344, AB037743, BC041167, DC399948
    Consensus CDS
    CCDS75104.1
    UniProtKB/Swiss-Prot
    Q9P2M4
    UniProtKB/TrEMBL
    F5GXK4
    Related
    ENSP00000405875.3, ENST00000446947.6
    Conserved Domains (1) summary
    smart00164
    Location:58290
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  4. NM_001330638.2NP_001317567.1  TBC1 domain family member 14 isoform d

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) has multiple differences, compared to variant 1. These differences result in a distinct 5' UTR and cause translation initiation at an alternate start codon, compared to variant 1. The encoded isoform (d) has a shorter and distinct N-terminus, compared to isoform a.
    Source sequence(s)
    AA724344, AB037743, BC041167, DB241199, DC399948
    Consensus CDS
    CCDS82909.1
    UniProtKB/Swiss-Prot
    Q9P2M4
    UniProtKB/TrEMBL
    B9A071
    Related
    ENSP00000386343.1, ENST00000410031.5
    Conserved Domains (1) summary
    smart00164
    Location:170402
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  5. NM_020773.3NP_065824.2  TBC1 domain family member 14 isoform a

    See identical proteins and their annotated locations for NP_065824.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Both variants 1 and 2 encode the same isoform.
    Source sequence(s)
    AA724344, AB037743, BC041167, DA754761
    Consensus CDS
    CCDS3394.2
    UniProtKB/Swiss-Prot
    Q9P2M4
    Related
    ENSP00000386921.4, ENST00000409757.9
    Conserved Domains (2) summary
    COG5210
    Location:225635
    COG5210; GTPase-activating protein [General function prediction only]
    pfam00566
    Location:464630
    RabGAP-TBC; Rab-GTPase-TBC domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    6909444..7033118
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011513508.1XP_011511810.1  TBC1 domain family member 14 isoform X1

    See identical proteins and their annotated locations for XP_011511810.1

    Conserved Domains (1) summary
    smart00164
    Location:398664
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  2. XM_017008477.1XP_016863966.1  TBC1 domain family member 14 isoform X2

    Conserved Domains (1) summary
    smart00164
    Location:398606
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  3. XM_011513507.3XP_011511809.1  TBC1 domain family member 14 isoform X1

    See identical proteins and their annotated locations for XP_011511809.1

    Conserved Domains (1) summary
    smart00164
    Location:398664
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  4. XM_005247986.3XP_005248043.1  TBC1 domain family member 14 isoform X2

    Conserved Domains (1) summary
    smart00164
    Location:398606
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  5. XM_006713895.3XP_006713958.1  TBC1 domain family member 14 isoform X3

    See identical proteins and their annotated locations for XP_006713958.1

    UniProtKB/Swiss-Prot
    Q9P2M4
    Conserved Domains (2) summary
    COG5210
    Location:225635
    COG5210; GTPase-activating protein [General function prediction only]
    pfam00566
    Location:464630
    RabGAP-TBC; Rab-GTPase-TBC domain
  6. XM_017008480.1XP_016863969.1  TBC1 domain family member 14 isoform X6

  7. XM_017008479.1XP_016863968.1  TBC1 domain family member 14 isoform X5

  8. XM_011513513.2XP_011511815.1  TBC1 domain family member 14 isoform X4

    Conserved Domains (1) summary
    smart00164
    Location:118384
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

RNA

  1. XR_241653.1 RNA Sequence

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