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Aliases for TBC1D14 Gene

Aliases for TBC1D14 Gene

  • TBC1 Domain Family Member 14 2 3 5
  • TBC1 Domain Family, Member 14 2
  • KIAA1322 4

External Ids for TBC1D14 Gene

Previous GeneCards Identifiers for TBC1D14 Gene

  • GC04P006976
  • GC04P007029
  • GC04P006839

Summaries for TBC1D14 Gene

GeneCards Summary for TBC1D14 Gene

TBC1D14 (TBC1 Domain Family Member 14) is a Protein Coding gene. GO annotations related to this gene include protein kinase binding and GTPase activator activity. An important paralog of this gene is EVI5L.

UniProtKB/Swiss-Prot for TBC1D14 Gene

  • Negative regulator of starvation-induced autophagosome formation.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TBC1D14 Gene

Genomics for TBC1D14 Gene

Regulatory Elements for TBC1D14 Gene

Promoters for TBC1D14 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TBC1D14 on UCSC Golden Path with GeneCards custom track

Genomic Location for TBC1D14 Gene

Chromosome:
4
Start:
6,909,242 bp from pter
End:
7,033,118 bp from pter
Size:
123,877 bases
Orientation:
Plus strand

Genomic View for TBC1D14 Gene

Genes around TBC1D14 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TBC1D14 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TBC1D14 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBC1D14 Gene

Proteins for TBC1D14 Gene

  • Protein details for TBC1D14 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P2M4-TBC14_HUMAN
    Recommended name:
    TBC1 domain family member 14
    Protein Accession:
    Q9P2M4
    Secondary Accessions:
    • B9A6L5
    • D3DVT4
    • E9PAZ6
    • Q8IW15
    • Q8NDK3

    Protein attributes for TBC1D14 Gene

    Size:
    693 amino acids
    Molecular mass:
    78137 Da
    Quaternary structure:
    • Interacts with ULK1. May interact with RAB11A and RAB11B, but does not exhibit any GTPase-activating activity toward these proteins.
    SequenceCaution:
    • Sequence=AAH41167.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA92560.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TBC1D14 Gene

    Alternative splice isoforms for TBC1D14 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TBC1D14 Gene

Proteomics data for TBC1D14 Gene at MOPED

Post-translational modifications for TBC1D14 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for TBC1D14 Gene

Domains & Families for TBC1D14 Gene

Protein Domains for TBC1D14 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for TBC1D14 Gene

Graphical View of Domain Structure for InterPro Entry

Q9P2M4

UniProtKB/Swiss-Prot:

TBC14_HUMAN :
  • Contains 1 Rab-GAP TBC domain.
Domain:
  • Contains 1 Rab-GAP TBC domain.
genes like me logo Genes that share domains with TBC1D14: view

No data available for Gene Families for TBC1D14 Gene

Function for TBC1D14 Gene

Molecular function for TBC1D14 Gene

UniProtKB/Swiss-Prot Function:
Negative regulator of starvation-induced autophagosome formation.

Gene Ontology (GO) - Molecular Function for TBC1D14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IBA --
genes like me logo Genes that share ontologies with TBC1D14: view
genes like me logo Genes that share phenotypes with TBC1D14: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TBC1D14 Gene

Localization for TBC1D14 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TBC1D14 Gene

Golgi apparatus, cis-Golgi network. Golgi apparatus, trans-Golgi network. Note=After amino acid starvation, Golgi apparatus-associated protein levels increase compared with fed conditions. May be cycling between the Golgi apparatus and an endosomal pool, redistributing to the Golgi apparatus upon starvation.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TBC1D14 Gene COMPARTMENTS Subcellular localization image for TBC1D14 gene
Compartment Confidence
endosome 5
vacuole 5
golgi apparatus 3
cytosol 2
endoplasmic reticulum 1
lysosome 1
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for TBC1D14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0055037 recycling endosome IDA 17562788
genes like me logo Genes that share ontologies with TBC1D14: view

Pathways & Interactions for TBC1D14 Gene

SuperPathways for TBC1D14 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TBC1D14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IBA --
GO:0031338 regulation of vesicle fusion IBA --
GO:0071955 recycling endosome to Golgi transport IMP 17562788
GO:0090630 activation of GTPase activity IBA --
genes like me logo Genes that share ontologies with TBC1D14: view

No data available for Pathways by source and SIGNOR curated interactions for TBC1D14 Gene

Drugs & Compounds for TBC1D14 Gene

No Compound Related Data Available

Transcripts for TBC1D14 Gene

Unigene Clusters for TBC1D14 Gene

TBC1 domain family, member 14:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TBC1D14 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b
SP1: - -
SP2: -
SP3:
SP4:

Relevant External Links for TBC1D14 Gene

GeneLoc Exon Structure for
TBC1D14
ECgene alternative splicing isoforms for
TBC1D14

Expression for TBC1D14 Gene

mRNA expression in normal human tissues for TBC1D14 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TBC1D14 Gene

This gene is overexpressed in Testis (28.5), Adipocyte (22.7), and CD8 Tcells (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for TBC1D14 Gene



SOURCE GeneReport for Unigene cluster for TBC1D14 Gene Hs.518611

genes like me logo Genes that share expression patterns with TBC1D14: view

Protein tissue co-expression partners for TBC1D14 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for TBC1D14 Gene

Orthologs for TBC1D14 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TBC1D14 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TBC1D14 35
  • 99.37 (n)
  • 99.86 (a)
TBC1D14 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TBC1D14 36
  • 91 (a)
OneToOne
TBC1D14 35
  • 87.3 (n)
  • 90.69 (a)
dog
(Canis familiaris)
Mammalia TBC1D14 35
  • 88.74 (n)
  • 91.92 (a)
TBC1D14 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tbc1d14 36
  • 88 (a)
OneToOne
Tbc1d14 16
Tbc1d14 35
  • 86.68 (n)
  • 90.62 (a)
oppossum
(Monodelphis domestica)
Mammalia TBC1D14 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 9 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Tbc1d14 35
  • 86.29 (n)
  • 91.2 (a)
chicken
(Gallus gallus)
Aves TBC1D14 36
  • 80 (a)
OneToOne
TBC1D14 35
  • 80.83 (n)
  • 92.23 (a)
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 2 (a)
ManyToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.34692 35
tropical clawed frog
(Silurana tropicalis)
Amphibia tbc1d14 35
  • 69.9 (n)
  • 72.13 (a)
zebrafish
(Danio rerio)
Actinopterygii tbc1d14 36
  • 62 (a)
OneToOne
tbc1d14 35
  • 67.21 (n)
  • 70.87 (a)
wufi42a03 35
worm
(Caenorhabditis elegans)
Secernentea tbc-12 36
  • 36 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GYL1 36
  • 9 (a)
ManyToMany
GYP5 36
  • 10 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10585 36
  • 59 (a)
OneToMany
Species with no ortholog for TBC1D14:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TBC1D14 Gene

ENSEMBL:
Gene Tree for TBC1D14 (if available)
TreeFam:
Gene Tree for TBC1D14 (if available)

Paralogs for TBC1D14 Gene

Paralogs for TBC1D14 Gene

(2) SIMAP similar genes for TBC1D14 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with TBC1D14: view

Variants for TBC1D14 Gene

Sequence variations from dbSNP and Humsavar for TBC1D14 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs11731231 - 7,004,909(+) GCTCT(C/G)AAGTG intron-variant, reference, missense
rs34860182 - 6,923,510(+) GACTC(C/G)TCTCC nc-transcript-variant, reference, missense
rs1307 -- 6,985,526(-) TTTTA(C/T)GCATA intron-variant, upstream-variant-2KB
rs1113361 -- 6,981,448(+) gatgg(G/T)ttcac intron-variant
rs1048009 -- 6,986,950(-) TTGCA(C/T)AAAAA intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for TBC1D14 Gene

Variant ID Type Subtype PubMed ID
esv34196 OTHER Inversion 12058347
nsv4216 CNV Loss 18451855
nsv878529 CNV Loss 21882294
nsv878530 CNV Loss 21882294
esv34033 CNV Loss 18971310
esv1699116 CNV Deletion 17803354
dgv1568e1 CNV Complex 17122850
nsv428436 CNV Gain 18775914
nsv469847 CNV Complex 16826518
nsv878531 CNV Loss 21882294
nsv878532 CNV Loss 21882294
esv2105831 CNV Deletion 18987734
esv2727013 CNV Deletion 23290073
esv2727014 CNV Deletion 23290073
esv2727015 CNV Deletion 23290073
esv2727016 CNV Deletion 23290073
nsv878533 CNV Loss 21882294

Variation tolerance for TBC1D14 Gene

Residual Variation Intolerance Score: 26% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.05; 37.56% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TBC1D14 Gene

HapMap Linkage Disequilibrium report
TBC1D14

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TBC1D14 Gene

Disorders for TBC1D14 Gene

Relevant External Links for TBC1D14

Genetic Association Database (GAD)
TBC1D14
Human Genome Epidemiology (HuGE) Navigator
TBC1D14
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TBC1D14

No disorders were found for TBC1D14 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TBC1D14 Gene

Publications for TBC1D14 Gene

  1. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10718198) Nagase T. … Ohara O. (DNA Res. 2000) 2 3 4 67
  2. Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. (PMID: 23382691) Lauc G. … Rudan I. (PLoS Genet. 2013) 3
  3. TBC1D14 regulates autophagosome formation via Rab11- and ULK1- positive recycling endosomes. (PMID: 22613832) Longatti A. … Tooze S.A. (J. Cell Biol. 2012) 3
  4. A directed protein interaction network for investigating intracellular signal transduction. (PMID: 21900206) Vinayagam A. … Wanker E.E. (Sci Signal 2011) 3
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3

Products for TBC1D14 Gene

Sources for TBC1D14 Gene

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