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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

KIAA0513 Gene

protein-coding GIFtS: 47
GCID: GC16P085061

KIAA0513

Explore 2 diseases affiliated with
KIAA0513 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
KIAA0513¹ ²
Uncharacterized Protein KIAA0513²

External Ids:	HGNC: 29058¹	Entrez Gene: 9764²	Ensembl: ENSG00000135709⁷	OMIM: 611675⁵	UniProtKB: O60268³

Export aliases for KIAA0513 gene to outside databases

Previous GC identifers: GC16P075607 GC16P086027 GC16P084800 GC16P084841 GC16P084876 GC16P083618 GC16P070814

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

(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_000016.9 NC_018927.1 NT_010498.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the KIAA0513 gene promoter:
ER-alpha JunB FosB Fra-1 Pax-2 Olf-1 Pax-2a JunD HOXA5 TGIF
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: KIAA0513 promoter sequence

Search SABiosciences Chromatin IP Primers for KIAA0513

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KIAA0513

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

Entrez Gene cytogenetic band: 16q24.1 Ensembl cytogenetic band: 16q24.1 HGNC cytogenetic band: 16q24.1

KIAA0513 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIAA0513 gene location

GeneLoc information about chromosome 16 GeneLoc Exon Structure

GeneLoc location for GC16P085061: view genomic region (about GC identifiers)

Start:	85,061,375 bp from pter	End:	85,127,836 bp from pter
Size:	66,462 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: K0513_HUMAN, O60268 (See protein sequence)

Recommended Name: Uncharacterized protein KIAA0513

Size: 411 amino acids; 46639 Da

Subcellular location: Cytoplasm (Probable)

Sequence caution: Sequence=BAA25439.2; Type=Erroneous initiation;

Secondary accessions: D3DUM2 Q8N6G0

Alternative splicing: 2 isoforms: O60268-1 O60268-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for KIAA0513: NX_O60268

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O60268

KIAA0513 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_055547.1

ENSEMBL proteins:

ENSP00000457408 ENSP00000455544 ENSP00000454547 ENSP00000454758 ENSP00000446439

ENSP00000258180

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Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IEA	--

KIAA0513 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

KIAA0513 for domains About GeneDecksing

1 InterPro domain/family:

IPR022096 SBF2

Graphical View of Domain Structure for InterPro Entry O60268

ProtoNet protein and cluster: O60268

(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

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(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 KIAA0513

STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

4 Interacting proteins for KIAA0513 (O60268³ ENSP00000258180⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HAX1	O00165³, ENSP00000329002⁴	I2D: score=1 STRING: ENSP00000329002
WWC1	Q8IX03³, ENSP00000265293⁴	I2D: score=1 STRING: ENSP00000265293
INTS4	Q96HW7³	I2D: score=1
--	ENSP00000346913⁴	STRING: ENSP00000346913

About this table

(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 KIAA0513
Search CenterWatch for drugs/clinical trials and news about KIAA0513 / K0513

(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,
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About This Section

REFSEQ mRNAs for KIAA0513 gene:

NM_014732.2

Unigene Cluster for KIAA0513:

KIAA0513

Hs.301658 [show with all ESTs]

Unigene Representative Sequence: AB011085

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

ENST00000566428 ENST00000567328(uc002fit.3) ENST00000562580 ENST00000562564

ENST00000562388 ENST00000538274 ENST00000258180(uc010voj.2 uc002fiu.3)

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Additional cDNA sequence:

AB011085.1 AF055005.1 AK299892.1 BC030280.1 U79288.1

4 DOTS entries:

DT.316374 DT.100651958 DT.100023529 DT.100726025

24/169 AceView cDNA sequences (see all 169):

BU541171 BQ277984 BQ278088 BM928363 BU845602 AI608661 AL706948 BQ673920

BC030280 BU932054 AA933585 CD673856 T33752 CB851007 F01625 T33753

BQ935624 BU849766 BQ187684 AF055005 BU553840 CA440403 BM675664 Z40132

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for KIAA0513 About this scheme

ExUns:	1a	·	1b	^	2	^	3	^	4	^	5	^	6a	·	6b	^	7	^	8a	·	8b	^	9	^	10	^	11a	·	11b	^	12a	·	12b
SP1:			-
SP2:
SP3:																											-
SP4:																					-
SP5:

ECgene alternative splicing isoforms for KIAA0513

(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

KIAA0513 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGTATATATT

About this image

KIAA0513 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

5 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Ovary

Primary Follicle

Granulosa Cells

Ovary

Brain

Brain

Diencephalic Ventricular Zone

Neural Tube

Diencephalon

Neural Tube

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See KIAA0513 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for KIAA0513

SOURCE GeneReport for Unigene cluster: Hs.301658

UniProtKB/Swiss-Prot: K0513_HUMAN, O60268

Tissue specificity: Widely expressed, highest levels in cerebellum, brain cortex, hippocampus, pons, putamen and

amygdala. Highly expressed in neurons, but also present in glial cells. Slightly higher expression in the dorsolateral

prefrontal cortex of schizophrenic patients compared to control individuals

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In Situ
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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.

Orthologs for KIAA0513 gene from 5/15 species (see all 15) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	6430548M08Rik^{1 , 5}	RIKEN cDNA 6430548M08 gene^{1, 5}	85.42(n)¹ 89.68(a)¹		8 (68.99 cM)⁵ 234797¹ NM_172286.4¹ NP_758490.3¹ 120114152⁵
chicken (Gallus gallus)	Aves	KIAA0513¹	KIAA0513	78.93(n) 79.01(a)		772040 XM_001235239.2 XP_001235240.2
lizard (Anolis carolinensis)	Reptilia	KIAA0513⁶	--	52(a)	1 ↔ 1	GL343957.1(707-20713)
zebrafish (Danio rerio)	Actinopterygii	wufj54b01²	Transcribed sequence with weak similarity to protein more	78.06(n)		CD585862.1
fruit fly (Drosophila melanogaster)	Insecta	CG17378¹	CG17378	46.08(n) 33.13(a)		33951 NM_135229.2 NP_609073.2

ENSEMBL Gene Tree for KIAA0513 (if available)
TreeFam Gene Tree for KIAA0513 (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 16 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs1875246^1,2	C,F,A,H,	--	85059568(-)	`TGAACT/CTGACA`	1	--	us2k¹		28		NS EA NA WA CSA	2769
rs187591201^1,2		--	85059611(+)	`CTCTTG/TTAAAA`	1	--	us2k¹		0	--	--	--	--
rs12917897^1,2	H	--	85059622(+)	`AATGGT/CCATGT`	1	--	us2k¹		4		NS EA	418
rs59109628^1,2	C,F,	--	85059628(+)	`CATGTA/CATCTG`	1	--	us2k¹		10		NA WA CSA EA	371
rs147713166^1,2		--	85059718(+)	`GAATCA/TGACTC`	1	--	us2k¹		0	--	--	--	--
rs114696698^1,2		--	85059719(+)	`AATCTG/AACTCT`	1	--	us2k¹		1		WA	118
rs142582859^1,2		--	85059856(+)	`CATCCA/GTCCTC`	1	--	us2k¹		0	--	--	--	--
rs150248410^1,2		--	85059872(+)	`TTCCCA/GTGAAT`	1	--	us2k¹		0	--	--	--	--
rs118093428^1,2	F,	--	85059938(+)	`AAAGCG/ATACCC`	1	--	us2k¹		1		EA	120
rs191923267^1,2		--	85059947(+)	`CCACTC/TGCCTG`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for KIAA0513 (85061375 - 85127836 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for KIAA0513: --
Human Gene Mutation Database (HGMD): KIAA0513

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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

KIAA0513 for disorders           About GeneDecksing

OMIM gene information: 611675    OMIM disorders: --

2 diseases for KIAA0513:    About MalaCards

schizophrenia neuronitis

Human Genome Epidemiology (HuGE) Navigator: KIAA0513 (1 document)

Export disorders for KIAA0513 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 KIAA0513 gene integrated from 9 sources:
(articles sorted by number of sources associating them with KIAA0513)

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

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, 3} Nagase T....Ohara O. (1998)
Characterization of KIAA0513, a novel signaling molecule that interacts with modulators of neuroplasticity, apoptosis, and the cytoskeleton. (PubMed id 17010949)^{1, 2} Lauriat T.L....McInnes L.A. (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)
Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)¹ OlA!h J....OvA!di J. (2011)
Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)¹ Rose J.E....Uhl G.R. (2010)
Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)¹ Barbe L....Andersson-Svahn H. (2008)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (2002)
Large-scale concatenation cDNA sequencing. (PubMed id 9110174)¹ Yu W.... Gibbs R.A. (1997)
A "double adaptor" method for improved shotgun library construction. (PubMed id 8619474)¹ Andersson B.... Gibbs R.A. (1996)

(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: 9764	HGNC: 29058	AceView: KIAA0513	Ensembl:ENSG00000135709	euGenes: HUgn9764
ECgene: KIAA0513	H-InvDB: KIAA0513

(According to HUGE)
About This Section

HUGE: KIAA0513

(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 KIAA0513	Pharmacogenomics, SNPs, Pathways

Intellectual Property for KIAA0513 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for KIAA0513 gene:
Search GeneIP for patents involving KIAA0513

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),
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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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KIAA0513 Gene

KIAA0513

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KIAA0513 Gene

KIAA0513

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