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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

KIAA1841 Gene

protein-coding GIFtS: 40
GCID: GC02P061293

KIAA1841

Search for KIAA1841
in

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
KIAA1841¹ ²
Uncharacterized Protein KIAA1841²

External Ids:	HGNC: 29387¹	Entrez Gene: 84542²	Ensembl: ENSG00000162929⁷	UniProtKB: Q6NSI8³

Export aliases for KIAA1841 gene to outside databases

Previous GC identifers: GC02P061432 GC02P061250 GC02P061267 GC02P061205 GC02P061033

(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_000002.11 NC_018913.1 NT_022184.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the KIAA1841 gene promoter:
Egr-3 Bach2 HFH-1 Olf-1 CUTL1
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for KIAA1841

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KIAA1841

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

Entrez Gene cytogenetic band: 2q14 Ensembl cytogenetic band: 2p16.1 HGNC cytogenetic band: 2p15

KIAA1841 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIAA1841 gene location

GeneLoc information about chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02P061293: view genomic region (about GC identifiers)

Start:	61,293,006 bp from pter	End:	61,391,960 bp from pter
Size:	98,955 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: K1841_HUMAN, Q6NSI8 (See protein sequence)

Recommended Name: Uncharacterized protein KIAA1841

Size: 718 amino acids; 82007 Da

Sequence caution: Sequence=BAB47470.1; Type=Erroneous initiation;

Secondary accessions: Q49AF0 Q6ZND0 Q96JI6

Alternative splicing: 4 isoforms: Q6NSI8-1 Q6NSI8-2 Q6NSI8-3 Q6NSI8-4 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for KIAA1841: NX_Q6NSI8

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q6NSI8

KIAA1841 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001123465.1 NP_115895.2

ENSEMBL proteins:

ENSP00000413200 ENSP00000385579 ENSP00000295031 ENSP00000381621 ENSP00000349154

ENSP00000416795

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

KIAA1841 for domains About GeneDecksing

1 InterPro domain/family:

IPR021777 DUF3342

Graphical View of Domain Structure for InterPro Entry Q6NSI8

ProtoNet protein and cluster: Q6NSI8

UniProtKB/Swiss-Prot: K1841_HUMAN, Q6NSI8

Similarity: Belongs to the KIAA1841 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

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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 KIAA1841

(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 KIAA1841
Search CenterWatch for drugs/clinical trials and news about KIAA1841 / K1841

(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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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 KIAA1841 gene (2 alternative transcripts):

NM_001129993.1 NM_032506.2

Unigene Cluster for KIAA1841:

KIAA1841

Hs.468653 [show with all ESTs]

Unigene Representative Sequence: NM_001129993

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

ENST00000482513(uc002sav.4) ENST00000453186(uc002sax.4) ENST00000402291(uc002saw.4)

ENST00000295031(uc002say.3) ENST00000483700 ENST00000483509 ENST00000462959

ENST00000488322 ENST00000471625 ENST00000398622(uc002sba.2) ENST00000464909

ENST00000488469 ENST00000489686 ENST00000356719 ENST00000453873

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Additional cDNA sequence:

AB058744.1 AK131267.1 AK309749.1 AL833595.1 BC070104.1 BX647395.1

13 DOTS entries:

DT.209949 DT.75120262 DT.75192077 DT.91677989 DT.99938445 DT.101982767 DT.40127475 DT.87014963

DT.91866758 DT.95264426 DT.99958101 DT.75153408 DT.91933029

24/58 AceView cDNA sequences (see all 58):

CK429253 CR590445 AA486028 AW088127 CA421892 BQ717875 AA903142 BI334308

AA377410 BX645080 BX096333 AI289121 BU619166 BU069195 BG569953 AI866703

BX356488 AW367945 AW009808 H91575 BC039298 BQ016864 NM_032506 Z43202

GeneLoc Exon Structure

5/7 Alternative Splicing Database (ASD) splice patterns (SP) for KIAA1841 (see all 7) About this scheme

ExUns:	1	^	2	^	3	^	4	^	5	^	6	^	7	^	8	^	9	^	10a	·	10b	^	11	^	12	^	13	^	14	^	15	^	16	^	17	^	18	^	19	^	20a	·	20b	^	21	^	22a	·	22b	^	23a	·
SP1:			-																		-		-				-														-
SP2:			-																		-		-				-														-										-
SP3:			-						-												-		-				-														-
SP4:
SP5:

ExUns:	23b	^	24	^	25
SP1:	-
SP2:	-		-
SP3:	-
SP4:
SP5:

ECgene alternative splicing isoforms for KIAA1841

(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

KIAA1841 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

KIAA1841 expression in embryonic tissues and stem cells

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

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Retina

Eye

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See KIAA1841 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for KIAA1841

SOURCE GeneReport for Unigene cluster: Hs.468653

SABiosciences Custom PCR Arrays for KIAA1841

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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 animals.

Orthologs for KIAA1841 gene from 6/21 species (see all 21) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	0610010F05Rik^{1 , 5}	RIKEN cDNA 0610010F05 gene^{1, 5}	88.21(n)¹ 88.58(a)¹		11 (14.33 cM)⁵ 71675¹ NM_027860.2¹ NP_082136.2¹ 23564961⁵
chicken (Gallus gallus)	Aves	KIAA1841¹	KIAA1841	77.13(n) 76.01(a)		421196 NM_001199419.1 NP_001186348.1
lizard (Anolis carolinensis)	Reptilia	KIAA1841⁶	--	74(a)	1 ↔ 1	GL343523.1(325189-366475)
African clawed frog (Xenopus laevis)	Amphibia	Xl.34417²	Xenopus laevis transcribed sequences	75.92(n)		BM190771.1
zebrafish (Danio rerio)	Actinopterygii	LOC793832¹	uncharacterized protein KIAA1841 homolog	62.92(n) 61.6(a)		793832 XM_001333632.3 XP_001333668.2
fruit fly (Drosophila melanogaster)	Insecta	CG6761^{1 , 3}	CG6761¹	34(a)³ 43.07(n)¹ 32.25(a)¹		67C5³ 39134¹ NM_140089.1¹ NP_648346.1¹

ENSEMBL Gene Tree for KIAA1841 (if available)
TreeFam Gene Tree for KIAA1841 (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 2 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs188020343^1,2		--	61291162(+)	`AAGTAC/TCACCA`	1	--	us2k¹		0	--	--	--	--
rs150860218^1,2		--	61291170(+)	`CCATCA/CCAACT`	1	--	us2k¹		0	--	--	--	--
rs2698195^1,2	C,F,H,	--	61291174(-)	`ACTTAG/ATTGTG`	1	--	us2k¹		10		NS EA NA	1196
rs139305009^1,2		--	61291408(+)	`CACACA/GCCTGT`	2	--	us2k¹		0	--	--	--	--
rs191690931^1,2		--	61291544(+)	`AAAAAA/TAATAA`	2	--	us2k¹		0	--	--	--	--
rs183524067^1,2		--	61291547(+)	`AAAAAA/TAATAA`	2	--	us2k¹		0	--	--	--	--
rs188076174^1,2		--	61291687(+)	`AAAAAA/GTTAGC`	2	--	us2k¹		0	--	--	--	--
rs116315920^1,2	F,	--	61291709(+)	`GCATGC/GGCCTG`	2	--	us2k¹		1		WA	118
rs7586478^1,2	C,F,A,	--	61291907(+)	`ATTTTT/GATTTT`	2	--	us2k¹ tfbs³		2		WA NA	238
rs192728405^1,2		--	61291978(+)	`CATTGG/TGGCCA`	2	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for KIAA1841 (61293006 - 61391960 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for KIAA1841
2 CNVs: 2386 8373

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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

KIAA1841 for disorders About MalaCards

KIAA1841 for disorders About GeneDecksing

Human Genome Epidemiology (HuGE) Navigator: KIAA1841 (1 document)

Export disorders for KIAA1841 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 KIAA1841 gene integrated from 9 sources:
(articles sorted by number of sources associating them with KIAA1841)

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

Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 11347906)^{1, 2, 3} Nagase T.... Ohara O. (2001)
A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci. (PubMed id 22412388)¹ Kenny E.E....Peter I. (2012)
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)
Coeliac disease associated risk variants in TNFAIP3 and REL implicate altered NF-{kappa}B signalling. (PubMed id 19240061)¹ Trynka G....Wijmenga C. (2009)
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)
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)² Ota T.... Sugano S. (2004)
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)

(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: 84542	HGNC: 29387	AceView: KIAA1841	Ensembl:ENSG00000162929	euGenes: HUgn84542
ECgene: KIAA1841	H-InvDB: KIAA1841

(According to HUGE)
About This Section

HUGE: KIAA1841

(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 KIAA1841	Pharmacogenomics, SNPs, Pathways

Intellectual Property for KIAA1841 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for KIAA1841 gene:
Search GeneIP for patents involving KIAA1841

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
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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

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

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KIAA1841 Gene

KIAA1841

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KIAA1841 Gene

KIAA1841

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