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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

KIAA1377 Gene

protein-coding GIFtS: 45
GCID: GC11P101819

KIAA1377

Explore 3 diseases affiliated with
KIAA1377 via

MalaCards

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

Aliases
KIAA1377¹ ²
Uncharacterized Protein KIAA1377²

External Ids:	HGNC: 29264¹	Entrez Gene: 57562²	Ensembl: ENSG00000110318⁷	OMIM: 614634⁵	UniProtKB: Q9P2H0³

Export aliases for KIAA1377 gene to outside databases

Previous GC identifers: GC11P103979 GC11P103142 GC11U900398 GC11P101323 GC11P101290 GC11P097711

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

Gene Wiki entry for KIAA1377

(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_000011.9 NC_018922.1 NT_033899.8

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the KIAA1377 gene promoter:
USF1 Sox5 USF-1:USF-2 AP-4 FOXJ2 (long isoform) USF-1 FOXJ2 TGIF
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for KIAA1377

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KIAA1377

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

Entrez Gene cytogenetic band: 11q22.1 Ensembl cytogenetic band: 11q22.1 HGNC cytogenetic band: 11q22.2

KIAA1377 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIAA1377 gene location

GeneLoc information about chromosome 11 GeneLoc Exon Structure

GeneLoc location for GC11P101819: view genomic region (about GC identifiers)

Start:	101,785,746 bp from pter	End:	101,871,793 bp from pter
Size:	86,048 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: K1377_HUMAN, Q9P2H0 (See protein sequence)

Recommended Name: Uncharacterized protein KIAA1377

Size: 1117 amino acids; 125870 Da

Secondary accessions: Q4G0U6

Explore the universe of human proteins at neXtProt for KIAA1377: NX_Q9P2H0

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9P2H0

KIAA1377 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_065853.2

ENSEMBL proteins:

ENSP00000263468 ENSP00000433643 ENSP00000437014 ENSP00000443184

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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: Q9P2H0

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	IPI	15383276

KIAA1377 for ontologies 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 KIAA1377

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/127 Interacting proteins for KIAA1377 (Q9P2H0^{1, 2, 3} ENSP00000263468⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 127)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
KAT7	O95251¹^,²^,³, ENSP00000259021⁴	EBI-473176,EBI-473199 MINT-3981562 MINT-3981016 I2D: score=3 STRING: ENSP00000259021
GADD45G	O95257¹^,²^,³, ENSP00000252506⁴	EBI-473176,EBI-5773903 MINT-3981610 MINT-3979313 I2D: score=2 STRING: ENSP00000252506
C7orf55-LUC7L2	Q9Y383²^,³	MINT-65820 MINT-3981203 I2D: score=5
HMOX2	P30519²^,³	MINT-63650 MINT-8258335 I2D: score=5
NUDT21	O43809²^,³	MINT-8264402 MINT-64644 I2D: score=5

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 KIAA1377
Search CenterWatch for drugs/clinical trials and news about KIAA1377 / K1377

(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 KIAA1377 gene:

NM_020802.2

Unigene Cluster for KIAA1377:

KIAA1377

Hs.156352 [show with all ESTs]

Unigene Representative Sequence: NM_020802

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

ENST00000263468(uc001pgm.3 uc001pgn.3 uc010run.2) ENST00000532529(uc009yxa.1)

ENST00000532077 ENST00000537689

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Additional cDNA sequence:

AB037798.1 AB096255.1 AK095004.1 AK296350.1 AK309479.1 AK310418.1 BC036525.1 BC146807.1

BX647415.1

7 DOTS entries:

DT.101980661 DT.106259 DT.91829656 DT.95261474 DT.120727205 DT.97812802 DT.95328036

24/64 AceView cDNA sequences (see all 64):

AA446891 AI797063 AB037798 BU784915 BQ286696 CB306881 BU616953 BQ286592

BQ272264 CA433735 AI348647 BQ270036 AI291484 AI333269 T63766 BE218747

BF057799 CA848180 BQ269935 BX095711 BU785174 AA626870 AA057365 BU950035

GeneLoc Exon Structure

(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

KIAA1377 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

KIAA1377 expression in embryonic tissues and stem cells

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

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Brain

Neural Tube

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See KIAA1377 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for KIAA1377

SOURCE GeneReport for Unigene cluster: Hs.156352

UniProtKB/Swiss-Prot: K1377_HUMAN, Q9P2H0

Tissue specificity: Expressed in brain, lung, skeletal muscle, kidney, pancreas, testis and ovary

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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 KIAA1377 gene from 4/10 species (see all 10) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	AK129341^{1 , 5}	cDNA sequence AK129341^{1, 5}	76(n)¹ 62.29(a)¹		9 (2.46 cM)⁵ 234915¹ NM_001045524.1¹ NP_001038989.1¹ 8076633⁵
chicken (Gallus gallus)	Aves	KIAA1377⁶	Uncharacterized protein	30(a)	1 ↔ 1	1(187099989-187134413)
lizard (Anolis carolinensis)	Reptilia	KIAA1377⁶	--	32(a)	1 ↔ 1	3(192512050-192537221)
zebrafish (Danio rerio)	Actinopterygii	si:dkey-3b8.4¹	si:dkey-3b8.4	42.47(n) 30.11(a)		561486 XM_684886.5 XP_689978.5

ENSEMBL Gene Tree for KIAA1377 (if available)
TreeFam Gene Tree for KIAA1377 (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 11 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs182581715^1,2		--	101783781(+)	`AAGCAA/GTAGTA`	2	--	us2k¹ int¹		0	--	--	--	--
rs116614577^1,2	F,	--	101783792(+)	`AAACAA/CTCGTA`	2	--	us2k¹ int¹		1		WA	118
rs115466672^1,2		--	101783795(+)	`CAATCG/ATAGCT`	2	--	int¹ us2k¹		1		WA	118
rs188049248^1,2		--	101783842(+)	`TAAGCC/TATAAC`	2	--	int¹ us2k¹		0	--	--	--	--
rs145627648^1,2		--	101783959(+)	`TGCCTC/TTGTGT`	2	--	int¹ us2k¹		0	--	--	--	--
rs1596119^1,2	C,F,A,H,	--	101784040(+)	`GAACAC/TGGGTC`	2	--	int¹ us2k¹		9		NA WA CSA	17
rs148939795^1,2		--	101784046(+)	`GGGTC-/ATATGTT`	2	--	us2k¹ int¹		0	--	--	--	--
rs138254743^1,2		--	101784126(+)	`AAATTA/GTGTAT`	2	--	us2k¹ int¹		0	--	--	--	--
rs182590077^1,2		--	101784163(+)	`TCCTAC/TCTCAA`	2	--	int¹ us2k¹		0	--	--	--	--
rs80048244^1,2	F,	--	101784188(+)	`AGTACC/GTGCCT`	2	--	us2k¹ int¹		1		NA	120

HapMap Linkage Disequilibrium report for KIAA1377 (101785746 - 101871793 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for KIAA1377
1 Indel: 101318
Human Gene Mutation Database (HGMD): KIAA1377

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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

KIAA1377 for disorders           About GeneDecksing

OMIM gene information: 614634    OMIM disorders: --

3 diseases for KIAA1377:    About MalaCards

huntington's disease retinitis monomelic amyotrophy

Export disorders for KIAA1377 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 KIAA1377 gene, integrated from 9 sources (see all 13):
(articles sorted by number of sources associating them with KIAA1377)

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

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. (2000)
Exome sequencing identifies KIAA1377 and C5orf42 as s usceptibility genes for monomelic amyotrophy. (PubMed id 22264561)^{1, 2} Lim Y.M....Kim K.K. (2012)
Protein phosphatase 1a interacting proteins in the hum an brain. (PubMed id 22321011)¹ Esteves S.L....da Cruz e Silva E.F. (2012)
A directed protein interaction network for investigat ing intracellular signal transduction. (PubMed id 21900206)¹ Vinayagam A....Wanker E.E. (2011)
Human chromosome 11 DNA sequence and analysis including novel gene identification. (PubMed id 16554811)² Taylor T.D....Sakaki Y. (2006)
A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)¹ Stelzl U.... Wanker E.E. (2005)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)¹ 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)
A protein interaction network links GIT1, an enhancer of huntingtin aggregation, to Huntington's disease. (PubMed id 15383276)¹ Goehler H....Wanker E.E. (2004)
DISC1 (Disrupted-In-Schizophrenia 1) is a centrosome-associated protein that interacts with MAP1A, MIPT3, ATF4/5 and NUDEL: regulation and loss of interaction with mutation. (PubMed id 12812986)¹ Morris J.A.... Austin C.P. (2003)

(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: 57562	HGNC: 29264	AceView: KIAA1377	Ensembl:ENSG00000110318	euGenes: HUgn57562
ECgene: KIAA1377	H-InvDB: KIAA1377

(According to HUGE)
About This Section

HUGE: KIAA1377

(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 KIAA1377	Pharmacogenomics, SNPs, Pathways

Intellectual Property for KIAA1377 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for KIAA1377 gene:
Search GeneIP for patents involving KIAA1377

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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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

Hot genes Disease genes KIAA1377 gene at Home site.

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KIAA1377 Gene

KIAA1377

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KIAA1377 Gene

KIAA1377

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