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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

TBC1D14 Gene

protein-coding GIFtS: 53
GCID: GC04P006910

TBC1 Domain Family, Member 14

2 related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
TBC1 Domain Family, Member 14¹ ²
TBC1 Domain Family Member 14²
KIAA1322³

External Ids:	HGNC: 29246¹	Entrez Gene: 57533²	Ensembl: ENSG00000132405⁷	OMIM: 614855⁵	UniProtKB: Q9P2M4³

Export aliases for TBC1D14 gene to outside databases

Previous GC identifers: GC04P006976 GC04P007029 GC04P006839

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for TBC1D14 Gene:

TBC1D14 (TBC1 domain family, member 14) is a protein-coding gene. Diseases associated with TBC1D14 include morbid obesity, and obesity. GO annotations related to this gene include Rab GTPase activator activity and protein kinase binding. An important paralog of this gene is TBC1D12.

UniProtKB/Swiss-Prot: TBC14_HUMAN, Q9P2M4

Function: Negative regulator of starvation-induced autophagosome formation

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000004.11 NT_006051.18 NC_018915.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the TBC1D14 gene promoter:
AML1a HSF1short HSF1 (long) AP-2gamma POU3F2 Pax-4a
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: TBC1D14 promoter sequence

Search SABiosciences Chromatin IP Primers for TBC1D14

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TBC1D14

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4p16.1 Ensembl cytogenetic band: 4p16.1 HGNC cytogenetic band: 4p16.1

TBC1D14 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TBC1D14 gene location

GeneLoc information about chromosome 4 GeneLoc Exon Structure

GeneLoc location for GC04P006910: view genomic region (about GC identifiers)

Start:	6,910,969 bp from pter	End:	7,034,845 bp from pter
Size:	123,877 bases	Orientation:	plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: TBC14_HUMAN, Q9P2M4 (See protein sequence)

Recommended Name: TBC1 domain family member 14

Size: 693 amino acids; 78137 Da

Subunit: Interacts with ULK1. May interact with RAB11A and RAB11B, but does not exhibit any GTPase-activating activity

toward these proteins

Subcellular location: 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

Sequence caution: Sequence=AAH41167.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

Sequence=BAA92560.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

1 PDB 3D structure from and Proteopedia for TBC1D14:

2QQ8 (3D)

Secondary accessions: B9A6L5 D3DVT4 E9PAZ6 Q8IW15 Q8NDK3

Alternative splicing: 2 isoforms: Q9P2M4-1 Q9P2M4-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TBC1D14: NX_Q9P2M4

Explore proteomics data for TBC1D14 at MOPED

Post-translational modifications:

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_Q9P2M4

TBC1D14 Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

REFSEQ proteins (3 alternative transcripts):

NP_001106832.1 NP_001106834.1 NP_065824.2

ENSEMBL proteins:

ENSP00000414951 ENSP00000386921 ENSP00000411760 ENSP00000386343 ENSP00000388886

ENSP00000389082 ENSP00000404041 ENSP00000405875

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Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005622	intracellular	--	--
GO:0005776	autophagic vacuole	IDA	--
GO:0005794	Golgi apparatus	IEA	--

TBC1D14 for ontologies About GeneDecksing

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

1 InterPro protein domain:

IPR000195 Rab-GTPase-TBC_dom

Graphical View of Domain Structure for InterPro Entry Q9P2M4

ProtoNet protein and cluster: Q9P2M4

1 Blocks protein domain: IPB000195 RabGAP/TBC domain

UniProtKB/Swiss-Prot: TBC14_HUMAN, Q9P2M4

Similarity: Contains 1 Rab-GAP TBC domain

TBC1D14 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: TBC14_HUMAN, Q9P2M4

Function: Negative regulator of starvation-induced autophagosome formation

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005097	Rab GTPase activator activity	IEA	--
GO:0019901	protein kinase binding	IPI	--

TBC1D14 for ontologies About GeneDecksing

Phenotypes:
2 GenomeRNAi human phenotypes for TBC1D14:

Increased S DNA content

Increased cell size

1 MGI mutant phenotype (inferred from 1 allele) (MGI details for Tbc1d14):

mortality/aging

TBC1D14 for phenotypes About GeneDecksing

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In Situ Assay
Products:

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(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for TBC1D14

STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

1 Interacting protein for TBC1D14 (Q9P2M4^{2, 3} ENSP00000386921⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
UBE3A	Q05086²^,³, ENSP00000381045⁴	MINT-8276559 I2D: score=2 STRING: ENSP00000381045

About this table

Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0010507	negative regulation of autophagy	IMP	--
GO:0032313	regulation of Rab GTPase activity	--	--
GO:2000785	regulation of autophagic vacuole assembly	IMP	--

TBC1D14 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, IUPHAR, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

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Browse Tocris compounds for TBC1D14 (TBC14)

Search CenterWatch for drugs/clinical trials and news about TBC1D14 / TBC14

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for TBC1D14 gene (3 alternative transcripts):

NM_001113361.1 NM_001113363.1 NM_020773.2

Unigene Cluster for TBC1D14:

TBC1 domain family, member 14

Hs.518611 [show with all ESTs]

Unigene Representative Sequence: NM_020773

9 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000444368 ENST00000409757(uc003gjs.4) ENST00000427736 ENST00000410031

ENST00000451522(uc010idh.3) ENST00000467966 ENST00000439515 ENST00000448507(uc011bwg.2 uc011bwh.2 uc003gju.4)

ENST00000446947

miRNA Products:
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		hsa-miR-181c hsa-miR-548k hsa-let-7a-2* hsa-miR-181a-2* hsa-miR-374a* hsa-miR-548m hsa-miR-548a-3p hsa-miR-144

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Additional mRNA sequence:

AB037743.1 AB449900.1 AK056962.1 AK295068.1 AL833868.1 BC024966.1 BC041167.1

19 DOTS entries:

DT.100774883 DT.448159 DT.101983164 DT.121229434 DT.100774879 DT.95110424 DT.75145120 DT.92442389

DT.121229423 DT.95342390 DT.100774884 DT.101968069 DT.121229385 DT.121229395 DT.121229447 DT.95152028

DT.91639994 DT.92038351 DT.95322473

24/317 AceView cDNA sequences (see all 317):

AA705475 BF109429 BM982132 BM981220 AI381196 BG256884 Z38773 AA738302

CA418905 AI093351 BU623486 CD676115 F01594 BC041167 AW503868 BM462855

AA917576 BM695044 AI090231 AA766172 BQ182331 F02319 BQ015528 AA806170

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for TBC1D14 About this scheme

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:

ECgene alternative splicing isoforms for TBC1D14

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

TBC1D14 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: TTTTAATTGC

About this image

See TBC1D14 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TBC1D14

SOURCE GeneReport for Unigene cluster: Hs.518611

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

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

Orthologs for TBC1D14 gene from 6/14 species (see all 14) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Tbc1d14^{1 , 5}	TBC1 domain family, member 14^{1, 5}	86.68(n)¹ 90.62(a)¹		5 (19.15 cM)⁵ 100855¹ NM_001113362.1¹ NP_001106833.1¹ 36490604⁵
chicken (Gallus gallus)	Aves	TBC1D14¹	TBC1 domain family, member 14	80.83(n) 92.23(a)		422862 NM_001252314.1 NP_001239243.1
African clawed frog (Xenopus laevis)	Amphibia	Xl.34692²	Xenopus laevis transcribed sequence with moderate similarity more	79.82(n)		BG364189.1
zebrafish (Danio rerio)	Actinopterygii	wufi42a03²	Transcribed sequence with weak similarity to protein more	75.6(n)		57066815
worm (Caenorhabditis elegans)	Secernentea	tbc-12⁶	Protein TBC-12	33(a)	1 → many	X(2525722-2532657)
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	GYL1⁶ GYP5⁶	Putative GTPase activating protein (GAP) with a ro... GTPase-activating protein (GAP) for yeast Rab fami...	9(a) 10(a)	many ↔ many many ↔ many	XIII(647118-649280) XVI(76669-79353)

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for TBC1D14 gene

TBC1D12² TBC1D4² RABGAP1L² TBC1D1² EVI5² EVI5L² RABGAP1²

2 SIMAP similar genes for TBC1D14 using alignment to 6 protein entries: TBC14_HUMAN (see all proteins):

TBC1D12 RABGAP1L

TBC1D14 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 4 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs71646666^1,2	C	--	6905197(+)	`CCCGG-/AAT CCT/GGTGGG`	2	--	int¹		1		NA	2
rs186048171^1,2		--	6909191(+)	`AGCCAA/GCCCAG`	1	--	us2k¹		0	--	--	--	--
rs116267678^1,2	F	--	6909221(+)	`CTTTGC/TCTGGA`	1	--	us2k¹		1		WA	118
rs189968375^1,2	C	--	6909372(+)	`GTCTAC/TGCCTC`	1	--	us2k¹		0	--	--	--	--
rs182206251^1,2		--	6909391(+)	`CAGAGC/TTGAGA`	1	--	us2k¹		0	--	--	--	--
rs187314097^1,2		--	6909395(+)	`GCTGAA/GATCCA`	1	--	us2k¹		0	--	--	--	--
rs114840001^1,2	C,F	--	6909414(+)	`CGCCCT/CGATCC`	1	--	us2k¹		1		WA	118
rs201913804^1,2		--	6909491(+)	`CACAC-/GGGCTA`	1	--	us2k¹		0	--	--	--	--
rs4689557^1,2	C,F,A	--	6909513(+)	`CCGTGT/CTAATT`	2	--	us2k¹		12		NA WA CSA EA	375
rs114437652^1,2	C,F	--	6909563(+)	`CGTCTG/AGGCGC`	2	--	us2k¹		1		NA	120

HapMap Linkage Disequilibrium report for TBC1D14 (6910969 - 7034845 bp)

Structural Variations
Database of Genomic Variants (DGV) 10/17 variations for TBC1D14 (see all 17): About this table

Variant ID	Type	Subtype	PubMed ID
esv2727016	CNV	Deletion	23290073
esv2727013	CNV	Deletion	23290073
esv2727014	CNV	Deletion	23290073
esv2105831	CNV	Deletion	18987734
esv2727015	CNV	Deletion	23290073
esv1699116	CNV	Deletion	17803354
nsv878533	CNV	Loss	21882294
nsv878531	CNV	Loss	21882294
nsv878532	CNV	Loss	21882294
esv34033	CNV	Loss	18971310

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

TBC1D14 for disorders           About GeneDecksing

OMIM gene information: 614855    OMIM disorders: --

2 diseases for TBC1D14:    About MalaCards

morbid obesity obesity

Genetic Association Database (GAD): TBC1D14
Human Genome Epidemiology (HuGE) Navigator: TBC1D14 (1 document)

Export disorders for TBC1D14 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for TBC1D14 gene, integrated from 9 sources (see all 13):
(articles sorted by number of sources associating them with TBC1D14)

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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. (PubMed id 10718198)^{1, 2, 3} Nagase T.... Ohara O. (2000)
TBC1D14 regulates autophagosome formation via Rab11- a nd ULK1-positive recycling endosomes. (PubMed id 22613832)^{1, 2} Longatti A....Tooze S.A. (2012)
Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)^{1, 4} Rose J.E....Uhl G.R. (2010)
Identification and characterization of a novel Tre-2/Bub2/Cdc16 (TBC) protein that possesses Rab3A-GAP activity. (PubMed id 19077034)^{1, 2} Ishibashi K.... Fukuda M. (2009)
First crystallographic models of human TBC domains in the context of a family-wide structural analysis. (PubMed id 18186464)^{1, 2} Tempel W.... Park H. (2008)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Loci associated with N-glycosylation of human immunogl obulin G show pleiotropy with autoimmune diseases and haematological cancers. (PubMed id 23382691)¹ Lauc G....Rudan I. (2013)
A directed protein interaction network for investigat ing intracellular signal transduction. (PubMed id 21900206)¹ Vinayagam A....Wanker E.E. (2011)
The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)² Bechtel S.... Schupp I. (2007)
Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)¹ Kimura K.... Sugano S. (2006)

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 57533	HGNC: 29246	AceView: TBC1D14	Ensembl:ENSG00000132405	euGenes: HUgn57533
ECgene: TBC1D14	H-InvDB: TBC1D14

(According to HUGE)
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HUGE: KIAA1322

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for TBC1D14	Pharmacogenomics, SNPs, Pathways

Intellectual Property for TBC1D14 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for TBC1D14 gene:
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TBC1 Domain Family, Member 14

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TBC1D14 Gene

TBC1 Domain Family, Member 14

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