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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

KIAA1671 Gene

protein-coding GIFtS: 38
GCID: GC22P025421

KIAA1671

Explore 6 diseases affiliated with
KIAA1671 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
KIAA1671¹ ²
CTA-221G9.5²
Uncharacterized Protein KIAA1671²

External Ids:	HGNC: 29345¹	Entrez Gene: 85379²	Ensembl: ENSG00000197077⁷	UniProtKB: Q9BY89³

Export aliases for KIAA1671 gene to outside databases

Previous GC identifers: GC22P022162 GC22P023761 GC22P023748 GC22P023751 GC22P023734 GC22P008371

(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_000022.10 NC_018933.1 NT_011520.12

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the KIAA1671 gene promoter:
COUP-TF1 STAT5B COUP HNF-4alpha2 POU6F1 (c2) HNF-4alpha1 AREB6 COUP-TF ATF6
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for KIAA1671

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KIAA1671

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

Entrez Gene cytogenetic band: 22q11.23 Ensembl cytogenetic band: 22q11.23 HGNC cytogenetic band: 22q11.23

KIAA1671 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIAA1671 gene location

GeneLoc information about chromosome 22 GeneLoc Exon Structure

GeneLoc location for GC22P025421: view genomic region (about GC identifiers)

Start:	25,421,600 bp from pter	End:	25,593,415 bp from pter
Size:	171,816 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: K1671_HUMAN, Q9BY89 (See protein sequence)

Recommended Name: Uncharacterized protein KIAA1671

Size: 1806 amino acids; 196711 Da

Miscellaneous: Antibodies against KIAA1671 are present in sera from patients with breast cancer who developed several

autoantibodies

Sequence caution: Sequence=BAB33341.1; Type=Erroneous initiation;

Secondary accessions: B0QYF2 B7ZW08 Q5THZ5

Alternative splicing: 2 isoforms: Q9BY89-1 Q9BY89-2

Explore the universe of human proteins at neXtProt for KIAA1671: NX_Q9BY89

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9BY89

KIAA1671 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_001138678.1

ENSEMBL proteins:

ENSP00000385152 ENSP00000385377 ENSP00000351207

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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: Q9BY89

(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 Mar 2013 via Entrez Gene.)
About This Section

Animal Models:

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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 KIAA1671

(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

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Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for KIAA1671
Search CenterWatch for drugs/clinical trials and news about KIAA1671 / K1671

(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,
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About This Section

REFSEQ mRNAs for KIAA1671 gene:

NM_001145206.1

Unigene Cluster for KIAA1671:

KIAA1671

Hs.419171 [show with all ESTs]

Unigene Representative Sequence: NM_001145206

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

ENST00000406486 ENST00000494730 ENST00000461374 ENST00000401395(uc003abl.3)

ENST00000358431(uc003abn.3)

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Additional cDNA sequence:

AB051458.1 AK025418.1 AK057551.1 AL832019.1 BC171801.1

8 DOTS entries:

DT.444270 DT.100025747 DT.40271613 DT.100025746 DT.120654638 DT.120654726 DT.97841098 DT.86997550

24/102 AceView cDNA sequences (see all 102):

BM668047 BU584878 N52705 AA309106 BQ187573 AI470364 BX951573 BM976830

AA369128 BU857756 BF939947 AI690792 BQ717872 CK826522 BX280582 AI874035

Z39334 BE886014 BX641215 AI538293 CB120751 T32718 BQ876587 AK057551

GeneLoc Exon Structure

2 Alternative Splicing Database (ASD) splice patterns (SP) for KIAA1671 About this scheme

ExUns:	1	^	2	^	3	^	4	^	5	^	6	^	7	^	8
SP1:
SP2:

ECgene alternative splicing isoforms for KIAA1671

(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

KIAA1671 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TACAAAGATG

About this image

KIAA1671 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 2 LifeMap Cells

Name

Category

PureStem™ endothelial progenitor 30-MV2-14 (Embryonic Progenitor Cell)

Endothelium

PureStem™ progenitor SM22 (Embryonic Progenitor Cell)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See KIAA1671 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for KIAA1671

SOURCE GeneReport for Unigene cluster: Hs.419171

SABiosciences Custom PCR Arrays for KIAA1671

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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 chordates.

Orthologs for KIAA1671 gene from 2/9 species (see all 9) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	--	Uncharacterized protein	35(a)	1 → many	15(7176513-7209603)
zebrafish (Danio rerio)	Actinopterygii	si:ch73-138n13.1⁶	si:ch73-138n13.1	19(a)	1 → many	8(44682243-44753004)

ENSEMBL Gene Tree for KIAA1671 (if available)
TreeFam Gene Tree for KIAA1671 (if available)

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

Paralogs for KIAA1671 gene

LOC100996283² TNKS1BP1²

KIAA1671 for paralogs About GeneDecksing

(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 22 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs138328363^1,2		--	25422643(+)	`TGTGA-/GCCAAG`	1	--	us2k¹		0	--	--	--	--
rs11913613^1,2	C,H	--	25422652(+)	`aggtcA/Gcgcca`	1	--	us2k¹		3		CSA	4
rs16979433^1,2	C,F,H	--	25422928(+)	`CTTATG/ACCCCA`	1	--	us2k¹		12		NA NS EA	1508
rs5760804^1,2	C,F,A,H	--	25423062(+)	`GTTGGA/GCGTTT`	1	--	us2k¹		108		NS EA PA EU CA WA NA CSA	6952
rs114530394^1,2	C	--	25423062(+)	`GTTGGA/GCGTTT`	1	--	us2k¹		0	--	--	--	--
rs6004398^1,2	H	--	25423709(+)	`CTTCAG/CGGATG`	1	--	us2k¹		4		NS EA	420
rs11912058^1,2	C,F,H	--	25423931(+)	`TTCTTG/AAAGTT`	1	--	us2k¹		4		NS EA	418
rs73395693^1,2	C,F	--	25424391(+)	`CTCCAG/ACACCA`	2	/N /S	mis¹		2		WA CSA	4
rs117577844^1,2	C	--	25424391(+)	`CTCCAA/GCACCA`	2	N S	mis¹		0	--	--	--	--
rs201788906^1,2	C	--	25424548(-)	`GACCGA/GGGAAG`	2	P	syn¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for KIAA1671 (25421600 - 25593415 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 10 variations for KIAA1671
8 CNVs: 31082 32457 2269 67860 90996 7340 5357 4120
2 Indels: 33724 79527

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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

KIAA1671 for disorders About GeneDecksing

6 diseases for KIAA1671: About MalaCards

papillary thyroid carcinoma folliculitis thyroid carcinoma thyroiditis

breast cancer carcinoma

Export disorders for KIAA1671 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 KIAA1671 gene, integrated from 9 sources (see all 12):
(articles sorted by number of sources associating them with KIAA1671)

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

Autoantibodies to annexin XI-A and other autoantigens in the diagnosis of breast cancer. (PubMed id 15289310)^{1, 2, 3} Fernandez-Madrid F.... Karvonen R.L. (2004)
Identification of novel transcribed sequences on human chromosome 22 by expressed sequence tag mapping. (PubMed id 11258795)^{1, 2} Hirosawa M....Ohara O. (2001)
Differential expression of a set of genes in follicul ar and classic variants of papillary thyroid carcinoma. (PubMed id 21509594)¹ Igci Y.Z....Demiryurek A.T. (2011)
A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)¹ Wagner S.A....Choudhary C. (2011)
Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)² Olsen J.V....Mann M. (2010)
A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)² Dephoure N.... Gygi S.P. (2008)
Large-scale phosphoproteome analysis of human liver tissue by enrichment and fractionation of phosphopeptides with strong anion exchange chromatography. (PubMed id 18318008)² Han G.... Gu J. (2008)
A germline-specific class of small RNAs binds mammali an Piwi proteins. (PubMed id 16751776)¹ Girard A....Carmell M.A. (2006)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)² Gerhard D.S....Malek J. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)¹ Ota T.... Sugano S. (2004)

(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: 85379	HGNC: 29345	AceView: KIAA1671.1	Ensembl:ENSG00000197077	euGenes: HUgn85379
ECgene: KIAA1671	H-InvDB: KIAA1671

(According to HUGE)
About This Section

HUGE: KIAA1671

(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 KIAA1671	Pharmacogenomics, SNPs, Pathways

Intellectual Property for KIAA1671 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for KIAA1671 gene:
Search GeneIP for patents involving KIAA1671

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 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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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 , 13 May 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

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

Hot genes Disease genes KIAA1671 gene at Home site.

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KIAA1671 Gene

KIAA1671

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KIAA1671 Gene

KIAA1671

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