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TBC1D14 Gene

protein-coding GIFtS: 54
GCID: GC04P006910

TBC1 Domain Family, Member 14

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
TBC1 Domain Family, Member 14¹ ²
KIAA1322³ ⁵
TBC1 Domain Family Member 14²

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for TBC1D14 Gene:

TBC1D14 (TBC1 domain family, member 14) is a protein-coding gene. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:

NC_000004.11 NT_006051.19 NC_018915.2

Regulatory elements:

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 Chromatin IP Primers for TBC1D14

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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

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:

Modification sites at neXtProt

Modification sites at PhosphoSitePlus

See TBC1D14 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (4 alternative transcripts):

NP_001106832.1 NP_001106834.1 NP_001273734.1 NP_065824.2

ENSEMBL proteins:

ENSP00000414951 ENSP00000386921 ENSP00000411760 ENSP00000386343 ENSP00000388886

ENSP00000389082 ENSP00000404041 ENSP00000405875

TBC1D14 Human Recombinant Protein Products:

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

Find genes that share domains with TBC1D14 About GenesLikeMe

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: TBC14_HUMAN, Q9P2M4

Function: Negative regulator of starvation-induced autophagosome formation

Gene Ontology (GO): 3 molecular function terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005097	Rab GTPase activator activity	IEA	--
GO:0005515	protein binding	IPI	--
GO:0019901	protein kinase binding	IPI	--

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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

Find genes that share phenotypes with TBC1D14 About GenesLikeMe

Animal Models:

genOway: Develop your customized and physiologically relevant rodent model for TBC1D14

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In Situ Assay
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

TBC14_HUMAN, Q9P2M4: 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:

Compartment	Confidence
vacuole	4
golgi apparatus	3
cytosol	2
endosome	2
endoplasmic reticulum	1
lysosome	1
mitochondrion	1
nucleus	1
peroxisome	1

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Gene Ontology (GO): 2 cellular component terms: About this table

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

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(SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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Custom Pathway & Disease-focused RT² Profiler PCR Arrays for TBC1D14
Interactions:

Search GeneGlobe Interaction Network for TBC1D14

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

3 Interacting proteins for TBC1D14 (Q9P2M4^{1, 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
RAB11B	Q15907¹	EBI-2797718,EBI-722234
ULK1	O75385¹	EBI-2797718,EBI-908831

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Gene Ontology (GO): 3 biological process terms: 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	--

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

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Browse compounds at ApexBio

Browse Tocris compounds for 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,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for TBC1D14 gene (4 alternative transcripts):

NM_001113361.1 NM_001113363.1 NM_001286805.1 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

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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

Selected AceView cDNA sequences (see all 317):

BU623486 CN478912 AA806170 AI093353 BE328772 AI299505 AW513873 AA876133

F05055 F04602 AK056962 AW954153 AW118549 BE676307 AA677515 BF440005

BC041167 AW172771 CD172469 CA424572 BQ720363 BU175400 AA857892 BQ574684

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™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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TBC1D14 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: TTTTAATTGC

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TBC1D14 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 2) fully expand


Blood (Hematopoietic System)
Granulocytes Peripheral Blood

Testis (Reproductive System)

TBC1D14 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

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TBC1D14 Protein Expression

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

Orthologs for TBC1D14 gene from Selected species (see all 16) 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
lizard (Anolis carolinensis)	Reptilia	--	--	2(a)	many ↔ many	2(119698450-119710285)
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 (tbc-12) mRNA, complete cds	36(a)	1 → many	X(2525273-2532657) WBGene00044061
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) YMR192W XVI(76669-79353) YPL249C

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)
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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

Find genes that share paralogs with TBC1D14 About GenesLikeMe

(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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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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) Selected 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

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SeqTarget long-range PCR primers for resequencing TBC1D14

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 614855 OMIM disorders: --

Find genes that share disorders with TBC1D14 About GenesLikeMe

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)
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PubMed articles for TBC1D14 gene, integrated from 10 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. (DNA Res. 2000)
TBC1D14 regulates autophagosome formation via Rab11- and ULK1- positive recycling endosomes. (PubMed id 22613832)^{1, 2} Longatti A.... Tooze S.A. (J. Cell Biol. 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. (Mol. Med. 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. (Genes Cells 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. (Proteins 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. (Genome Res. 2004)
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. (PubMed id 23382691)¹ Lauc G....Rudan I. (PLoS Genet. 2013)
A directed protein interaction network for investigating intracellular signal transduction. (PubMed id 21900206)¹ Vinayagam A....Wanker E.E. (Sci Signal 2011)
The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)² Bechtel S.... Schupp I. (BMC Genomics 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. (Genome Res. 2006)

(in PubMed, OMIM, and NCBI Bookshelf)
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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, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and 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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TBC1D14 Gene

TBC1 Domain Family, Member 14

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TBC1D14 Gene

TBC1 Domain Family, Member 14

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