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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

KIAA0586 Gene

protein-coding GIFtS: 44
GCID: GC14P058894

KIAA0586

Explore 3 diseases affiliated with
KIAA0586 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
KIAA0586¹ ²
Talpid3¹ ²
Ortholog Of Chicken Talpid{3}²
Uncharacterized Protein KIAA0586²
TALPID3³

External Ids:	HGNC: 19960¹	Entrez Gene: 9786²	Ensembl: ENSG00000100578⁷	OMIM: 610178⁵	UniProtKB: Q9BVV6³

Export aliases for KIAA0586 gene to outside databases

Previous GC identifers: GC14P056218 GC14P052690 GC14P056884 GC14P057963 GC14P039059

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

UniProtKB/Swiss-Prot: TALD3_HUMAN, Q9BVV6

Function: Required for ciliogenesis and sonic hedgehog/SHH signaling (By similarity)

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000014.8 NC_018925.1 NT_026437.12

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the KIAA0586 gene promoter:
Pax-6 Pax-2 Pax-2a Ik-3 Evi-1 HNF-1A IRF-2 HNF-1 FOXO4 Meis-1
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for KIAA0586

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KIAA0586

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

Entrez Gene cytogenetic band: 14q23.1 Ensembl cytogenetic band: 14q23.1 HGNC cytogenetic band: 14q23.1

KIAA0586 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIAA0586 gene location

GeneLoc information about chromosome 14 GeneLoc Exon Structure

GeneLoc location for GC14P058894: view genomic region (about GC identifiers)

Start:	58,894,103 bp from pter	End:	59,015,549 bp from pter
Size:	121,447 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: TALD3_HUMAN, Q9BVV6 (See protein sequence)

Recommended Name: Protein TALPID3

Size: 1533 amino acids; 169307 Da

Subcellular location: Cytoplasm, cytoskeleton, centrosome

Sequence caution: Sequence=BAA25512.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;

Secondary accessions: B4DZB6 E7EWM8 O60328 Q6NYC6

Alternative splicing: 3 isoforms: Q9BVV6-1 Q9BVV6-2 Q9BVV6-3 (No experimental confirmation available. Ref.2 (BAG64028) sequence is in conflict in position: 1568:L->P)

Explore the universe of human proteins at neXtProt for KIAA0586: NX_Q9BVV6

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9BVV6

KIAA0586 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (6 alternative transcripts):

NP_001231118.1 NP_001231119.1 NP_001231120.1 NP_001231121.1 NP_001231122.1 NP_055564.3

ENSEMBL proteins:

ENSP00000346359 ENSP00000452351 ENSP00000399427 ENSP00000452536 ENSP00000451831

ENSP00000450855 ENSP00000261244 ENSP00000451356

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IEA	--
GO:0005813	centrosome	IDA	19144723

KIAA0586 for ontologies About GeneDecksing

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

ProtoNet protein and cluster: Q9BVV6

UniProtKB/Swiss-Prot: TALD3_HUMAN, Q9BVV6

Similarity: Belongs to the TALPID3 family

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

Function Summary:

UniProtKB/Swiss-Prot: TALD3_HUMAN, Q9BVV6

Function: Required for ciliogenesis and sonic hedgehog/SHH signaling (By similarity)

miRNA Products:		OriGene 3'-UTR Clone: KIAA0586 Browse MicroRNA Expression Plasmids
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In Situ Assay
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2 GenomeRNAi human phenotypes for KIAA0586:

Increased G2M DNA content

Increased cell size

Animal Models:
Mouse knock-out 2700049A03Rik^tm1.2Arte for KIAA0586
9 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for 2700049A03Rik):

cardiovascular system	cellular	craniofacial	embryogenesis	homeostasis/metabolism
limbs/digits/tail	mortality/aging	nervous system	skeleton

KIAA0586 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for KIAA0586

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

1 Interacting protein for KIAA0586 (ENSP00000261244⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
UBC	ENSP00000344818⁴	STRING: ENSP00000344818

About this table

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007224	smoothened signaling pathway	ISS	--
GO:0060271	cilium morphogenesis	ISS	--

KIAA0586 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, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for KIAA0586
Search CenterWatch for drugs/clinical trials and news about KIAA0586 / TALD3

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 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,
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 KIAA0586 gene (6 alternative transcripts):

NM_001244189.1 NM_001244190.1 NM_001244191.1 NM_001244192.1 NM_001244193.1 NM_014749.3

Unigene Cluster for KIAA0586:

KIAA0586

Hs.232532 [show with all ESTs]

Unigene Representative Sequence: NM_001244189

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

ENST00000354386 ENST00000556134 ENST00000423743(uc010trr.2 uc001xdt.4 uc001xdu.4 uc010trs.2)

ENST00000555203 ENST00000557192 ENST00000554463 ENST00000555833 ENST00000261244(uc001xdv.4)

ENST00000557590 ENST00000538571(uc010tru.1 uc010trt.2) ENST00000555397

ENST00000557392 ENST00000556235

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		hsa-miR-3119 hsa-miR-3662 hsa-miR-590-3p hsa-miR-578
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Additional cDNA sequence:

AB011158.1 AK126155.1 AK302579.1 AK302635.1 AK302718.1 AK302836.1 AK310356.1 AY359881.1

BC000900.2 BC066647.1

12 DOTS entries:

DT.317242 DT.97844413 DT.102828530 DT.99993511 DT.120771694 DT.120793161 DT.120771690 DT.92422402

DT.95112905 DT.120771683 DT.92422401 DT.101968142

24/92 AceView cDNA sequences (see all 92):

BE276527 CA392494 BI334348 CB068020 AL044626 AI378482 CR621962 BC066647

AK126155 NM_014749 H84811 AY359881 AB011158 BC000900 AI554198 CD678364

AL044952 BX097526 CD244426 BP355287 BQ437979 CA943160 BX481855 AI538669

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for KIAA0586 About this scheme

ExUns:	1	^	2	^	3	^	4a	·	4b	^	5	^	6	^	7	^	8	^	9	^	10
SP1:
SP2:											-								-
SP3:

ECgene alternative splicing isoforms for KIAA0586

(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

KIAA0586 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image
See KIAA0586 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for KIAA0586

SOURCE GeneReport for Unigene cluster: Hs.232532

SABiosciences Custom PCR Arrays for KIAA0586

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In Situ
Assay Products:

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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 chordates.

Orthologs for KIAA0586 gene from 4/11 species (see all 11) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	2700049A03Rik^{1 , 5}	RIKEN cDNA 2700049A03 gene^{1, 5}	71.79(n)¹ 63.05(a)¹		12 (29.39 cM)⁵ 76967¹ NM_001163378.1¹ NP_001156850.1¹ 71136848⁵
chicken (Gallus gallus)	Aves	KIAA0586¹	KIAA0586	57.99(n) 45.49(a)		423540 NM_001040707.1 NP_001035797.1
lizard (Anolis carolinensis)	Reptilia	KIAA0586⁶	--	45(a)	1 ↔ 1	GL343459.1(423855-478270)
zebrafish (Danio rerio)	Actinopterygii	LOC100332470¹	uncharacterized protein KIAA0586-like	49.57(n) 41.06(a)		100332470 XM_002665156.2 XP_002665202.2

ENSEMBL Gene Tree for KIAA0586 (if available)
TreeFam Gene Tree for KIAA0586 (if available)

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

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, 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 14 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs113461217^1,2		--	39057695(+)	`CGCGCG/ACCACC`	1	--	int¹		1		CSA	2
rs17841034^1,2	C	--	39058276(+)	`CCCCCC/AACTGC`	1	--	int¹		1		EA	200
rs74719785^1,2	F,	--	39058712(+)	`GAAACT/GTCTTG`	1	--	int¹		1		EA	120
rs72716995^1,2	C,	--	39059167(+)	`GACTCG/TGTGGC`	1	--	us2k¹		0	--	--	--	--
rs78665957^1,2	C,F,	--	39060417(+)	`TATTTC/TTACCC`	1	--	us2k¹		1		WA	118
rs78305658^1,2		--	39060593(+)	`TCTTTA/CCAACT`	1	--	us2k¹		0	--	--	--	--
rs183830270^1,2		--	58892138(+)	`ATTAGA/CCAGCG`	4	--	us2k¹		0	--	--	--	--
rs142154432^1,2		--	58892160(+)	`GCTTGC/TAGTCC`	4	--	us2k¹		0	--	--	--	--
rs150783557^1,2		--	58892268(+)	`AAAAAA/GAAAAA`	4	--	us2k¹		0	--	--	--	--
rs139400320^1,2		--	58892336(+)	`TGTCAC/TTTTAA`	4	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for KIAA0586 (58894103 - 59015549 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for KIAA0586: --

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KIAA0586

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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.)
About This Section

KIAA0586 for disorders           About GeneDecksing

OMIM gene information: 610178    OMIM disorders: --

3 diseases for KIAA0586:    About MalaCards

cystic kidney brachydactyly polydactyly

1 disease from the University of Copenhagen DISEASES database for KIAA0586:

Brachydactyly

Export disorders for KIAA0586 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 KIAA0586 gene, integrated from 9 sources (see all 16):
(articles sorted by number of sources associating them with KIAA0586)

Utopia: connect your pdf to the dynamic
world of online information

The Talpid3 gene (KIAA0586) encodes a centrosomal protein that is essential for primary cilia formation. (PubMed id 19144723)^{1, 2} Yin Y....Tickle C. (2009)
Tryptic digestion of ubiquitin standards reveals an improved strategy for identifying ubiquitinated proteins by mass spectrometry. (PubMed id 17370265)^{1, 2} Denis N.J.... Figeys D. (2007)
The chicken talpid3 gene encodes a novel protein essential for Hedgehog signaling. (PubMed id 16702409)^{1, 3} Davey M.G....Burt D.W. (2006)
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)
Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9628581)^{1, 2} Nagase T....Ohara O. (1998)
Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)¹ Udeshi N.D....Carr S.A. (2012)
Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)¹ Kim W....Gygi S.P. (2011)
Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)¹ Danielsen J.M....Nielsen M.L. (2011)
Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)¹ Barbe L....Andersson-Svahn H. (2008)
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)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 9786	HGNC: 19960	AceView: KIAA0586	Ensembl:ENSG00000100578	euGenes: HUgn9786
ECgene: KIAA0586	H-InvDB: KIAA0586

(According to HUGE)
About This Section

HUGE: KIAA0586

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for KIAA0586	Pharmacogenomics, SNPs, Pathways

Intellectual Property for KIAA0586 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for KIAA0586 gene:
Search GeneIP for patents involving KIAA0586

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section


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GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
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The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes KIAA0586 gene at Home site.

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KIAA0586 Gene

KIAA0586

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KIAA0586 Gene

KIAA0586

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