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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. Among its related pathways are Vesicle-mediated transport and TBC/RABGAPs. GO annotations related to this gene include protein kinase binding and GTPase activator activity. An important paralog of this gene is TBC1D12.

UniProtKB/Swiss-Prot for TBC1D14 Gene

  • Negative regulator of starvation-induced autophagosome formation.

No data available for Entrez Gene Summary , CIViC 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

Enhancers for TBC1D14 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04G006914 2.1 FANTOM5 Ensembl ENCODE dbSUPER 22.3 +7.4 7398 5.1 CREB3L1 MLX DMAP1 FEZF1 YY1 SLC30A9 ZNF143 NFYC GLIS1 RCOR2 KIAA0232 TBC1D14 BLOC1S4 GRPEL1 TADA2B MAN2B2 S100P GC04M006908 GC04P006943
GH04G006932 1.6 Ensembl ENCODE dbSUPER 23.8 +31.8 31824 17.4 HDGF FOXA2 PKNOX1 CREB3L1 ARNT ARID4B YY1 FOS SP5 JUNB TBC1D14 GRPEL1 KIAA0232 GC04P006943 GC04M006908
GH04G006885 1.6 FANTOM5 Ensembl ENCODE dbSUPER 21.4 -22.0 -22042 3.2 BCOR ZSCAN5A CTCF PKNOX1 TAL1 MAX RAD21 YY1 TCF12 CBX5 TBC1D14 KIAA0232 PIR60819 GC04P006857
GH04G006953 1.4 Ensembl ENCODE dbSUPER 22.5 +47.0 46975 5.2 ELF3 PKNOX1 FOXA2 MLX ARID4B RAD21 RARA EGR1 CREM THAP11 TBC1D14 GRPEL1 GC04P006943 GC04M006985
GH04G006924 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11.2 +19.1 19062 7.6 HDGF FOXA2 PKNOX1 ATF1 MLX ARID4B DMAP1 FEZF1 YY1 ZNF121 TBC1D14 GRPEL1 KIAA0232 GC04P006943 GC04M006908
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TBC1D14 on UCSC Golden Path with GeneCards custom track

Promoters for TBC1D14 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000165495 658 1801 HDGF HNRNPUL1 CREB3L1 SIN3A ARID4B DMAP1 YY1 ZNF766 ZNF143 ZNF207

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

Post-translational modifications for TBC1D14 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

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

No data available for Gene Families and UniProtKB/Swiss-Prot 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 --
GO:0005515 protein binding IPI 22613832
GO:0017137 Rab GTPase binding IBA --
GO:0019901 protein kinase binding IPI 22613832
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

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TBC1D14 gene
Compartment Confidence
nucleus 5
endosome 5
golgi apparatus 4
cytosol 3
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for TBC1D14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005776 autophagosome IDA 22613832
GO:0005794 Golgi apparatus IDA --
GO:0005829 cytosol IEA --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with TBC1D14: view

Pathways & Interactions for TBC1D14 Gene

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

Pathways by source for TBC1D14 Gene

3 Reactome pathways for TBC1D14 Gene

Gene Ontology (GO) - Biological Process for TBC1D14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IBA --
GO:0010507 negative regulation of autophagy IMP 22613832
GO:0031338 regulation of vesicle fusion IBA --
GO:0061024 membrane organization TAS --
GO:0071955 recycling endosome to Golgi transport IMP 17562788
genes like me logo Genes that share ontologies with TBC1D14: view

No data available for 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:

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for TBC1D14 Gene



Protein tissue co-expression partners for TBC1D14 Gene

NURSA nuclear receptor signaling pathways regulating expression of TBC1D14 Gene:

TBC1D14

SOURCE GeneReport for Unigene cluster for TBC1D14 Gene:

Hs.518611

Evidence on tissue expression from TISSUES for TBC1D14 Gene

  • Nervous system(4.8)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with TBC1D14: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 34 35
  • 99.37 (n)
dog
(Canis familiaris)
Mammalia TBC1D14 34 35
  • 88.74 (n)
cow
(Bos Taurus)
Mammalia TBC1D14 34 35
  • 87.3 (n)
mouse
(Mus musculus)
Mammalia Tbc1d14 34 16 35
  • 86.68 (n)
rat
(Rattus norvegicus)
Mammalia Tbc1d14 34
  • 86.29 (n)
oppossum
(Monodelphis domestica)
Mammalia TBC1D14 35
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 9 (a)
ManyToMany
chicken
(Gallus gallus)
Aves TBC1D14 34 35
  • 80.83 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 2 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia tbc1d14 34
  • 69.9 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.34692 34
zebrafish
(Danio rerio)
Actinopterygii tbc1d14 34 35
  • 67.21 (n)
wufi42a03 34
worm
(Caenorhabditis elegans)
Secernentea tbc-12 35
  • 36 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GYP5 35
  • 10 (a)
ManyToMany
GYL1 35
  • 9 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10585 35
  • 59 (a)
OneToMany
Species where no ortholog for TBC1D14 was found in the sources mined by GeneCards:
  • 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
rs10000433 -- 6,959,074(+) tagag(A/G)cgggg intron-variant
rs1000069459 -- 6,924,946(+) TCCCG(A/C)ACGGT intron-variant
rs1000069927 -- 6,996,528(+) GTAGT(C/T)TTCCA intron-variant
rs1000072627 -- 7,011,998(+) CATAA(A/G)GTATT intron-variant
rs1000100382 -- 6,939,185(+) GGCGG(C/T)CTCGG intron-variant

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

Variant ID Type Subtype PubMed ID
dgv1456e212 CNV loss 25503493
dgv1457e212 CNV loss 25503493
esv1699116 CNV deletion 17803354
esv2105831 CNV deletion 18987734
esv2727013 CNV deletion 23290073
esv2727014 CNV deletion 23290073
esv2727015 CNV deletion 23290073
esv2727016 CNV deletion 23290073
esv2759221 CNV gain 17122850
esv3358199 CNV duplication 20981092
esv34033 CNV loss 18971310
esv34196 OTHER inversion 12058347
esv3599514 CNV loss 21293372
nsv1073727 CNV deletion 25765185
nsv1112849 CNV deletion 24896259
nsv1136813 CNV deletion 24896259
nsv4216 CNV deletion 18451855
nsv428436 CNV gain 18775914
nsv469847 CNV gain 16826518
nsv593547 CNV loss 21841781

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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 64
  2. TBC1D14 regulates autophagy via the TRAPP complex and ATG9 traffic. (PMID: 26711178) Lamb C.A. … Tooze S.A. (EMBO J. 2016) 2 3 64
  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 64
  4. 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 46 64
  5. Identification and characterization of a novel Tre-2/Bub2/Cdc16 (TBC) protein that possesses Rab3A-GAP activity. (PMID: 19077034) Ishibashi K. … Fukuda M. (Genes Cells 2009) 3 4 64

Products for TBC1D14 Gene

Sources for TBC1D14 Gene

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