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KIAA1377 Gene

protein-coding   GIFtS: 45
GCID: GC11P101819

KIAA1377

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for KIAA1377 Gene:
KIAA1377 (KIAA1377) is a protein-coding gene. Diseases associated with KIAA1377 include monomelic amyotrophy, and choroiditis.

UniProtKB/Swiss-Prot: K1377_HUMAN, Q9P2H0
Function: May participate in cytokinesis

Gene Wiki entry for KIAA1377 Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000011.10  NT_033899.9  NC_018922.2  
Regulatory elements:
   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 Chromatin IP Primers for KIAA1377

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: K1377_HUMAN, Q9P2H0 (See protein sequence)
Recommended Name: Uncharacterized protein KIAA1377  
Size: 1117 amino acids; 125870 Da
Miscellaneous: Depletion of KIAA1377 by siRNA results in an increase in cytokinesis aberrant cells
(PubMed:19799413)
Secondary accessions: Q4G0U6

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

Explore proteomics data for KIAA1377 at MOPED


See KIAA1377 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_065853.2  
ENSEMBL proteins: 
 ENSP00000263468   ENSP00000433643   ENSP00000437014   ENSP00000443184  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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1 InterPro protein domain:
 IPR028257 KIAA1377

Graphical View of Domain Structure for InterPro Entry Q9P2H0

ProtoNet protein and cluster: Q9P2H0


KIAA1377 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: K1377_HUMAN, Q9P2H0
Function: May participate in cytokinesis

     Gene Ontology (GO): 1 molecular function term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005515protein binding IPI15383276
     
KIAA1377 for ontologies           About GeneDecksing


Animal Models:
   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KIAA1377
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hsa-let-7b-5p (MIRT052032)

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SwitchGear 3'UTR luciferase reporter plasmidKIAA1377 3' UTR sequence
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
K1377_HUMAN, Q9P2H0: Midbody
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
nucleus3
cytosol2

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0030496midbody IEA--

KIAA1377 for ontologies           About GeneDecksing


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KIAA1377
Interactions:

    Search GeneGlobe Interaction Network for KIAA1377

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

Selected Interacting proteins for KIAA1377 (Q9P2H01, 2, 3 ENSP000002634684) via UniProtKB, MINT, STRING, and/or I2D (see all 125)
InteractantInteraction Details
GeneCardExternal ID(s)
KAT7O952511, 2, 3, ENSP000002590214EBI-473176,EBI-473199 MINT-3981562 MINT-3981016 I2D: score=3 STRING: ENSP00000259021
GADD45GO952571, 2, 3, ENSP000002525064EBI-473176,EBI-448202 MINT-3981610 MINT-3979313 I2D: score=2 STRING: ENSP00000252506
LUC7L2Q9Y3832, 3MINT-65820 MINT-3981203 I2D: score=5 
HMOX2P305192, 3MINT-63650 MINT-8258335 I2D: score=5 
NUDT21O438092, 3MINT-8264402 MINT-64644 I2D: score=5 
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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for KIAA1377 (K1377)



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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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
miRNA
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Inhib. RNA
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  QuantiFast Probe-based Assays in human, mouse, rat KIAA1377

Additional mRNA 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 

Selected AceView cDNA sequences (see all 64):

CA848180 BU785174 AA057365 BU784915 BX095711 BQ269935 AA626870 AA446891 
AB037798 BF057799 BE218747 T63766 BU950035 CK905943 AI291484 BQ270036 
CB306881 BQ272264 BU616953 BQ286696 AI797063 AI333269 AI348647 BQ286592 

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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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KIAA1377 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
KIAA1377 Expression
About this image


KIAA1377 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 
 Brain (Nervous System)
         Choroid Plexus
KIAA1377 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

KIAA1377 Protein Expression

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:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIAA1377

(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)
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This gene was present in the common ancestor of chordates.

Orthologs for KIAA1377 gene from Selected species (see all 10)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia AK1293411 , 5 cDNA sequence AK1293411, 5 76.18(n)1
62.47(a)1
  9 (2.46 cM)5
2349151  NM_001045524.11  NP_001038989.11 
 80766335 
chicken
(Gallus gallus)
Aves KIAA13771 KIAA1377 ortholog 53.59(n)
35.66(a)
  100859489  XM_004938838.1  XP_004938895.1 
lizard
(Anolis carolinensis)
Reptilia KIAA13776
KIAA1377
30(a)
1 ↔ 1
3(192509231-192541685)
zebrafish
(Danio rerio)
Actinopterygii si:dkey-3b8.46
si:dkey-3b8.4
22(a)
1 ↔ 1
18(35719961-35747322) ENSDARG00000068398


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)
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  --

(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for KIAA1377 (see all 1563)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 11 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs558548551,2
C,F--101789375(+) AAAAAC/TGCATA 1 -- int12Minor allele frequency- T:0.33WA CSA 3
rs1847617961,2
--101789378(+) AATGCA/GTATGC 1 -- int10--------
rs1894885001,2
--101789395(+) TCCTCA/GTATCT 1 -- int10--------
rs122856711,2
C,F,H--101789514(+) acttaT/Ccatgt 1 -- int16Minor allele frequency- C:0.02NS EA WA NA 658
rs1441107571,2
--101789654(+) TACATC/TACGGG 1 -- int10--------
rs112250631,2
C,F,A,H--101789693(+) TCTGGA/GCATAG 1 -- int134Minor allele frequency- G:0.15NA NS EA WA CSA 3520
rs1486854421,2
--101789725(+) AGAAAG/TAAAGT 1 -- int10--------
rs557141481,2
C,F--101789795(+) TTCATG/AAAGGT 1 -- int11Minor allele frequency- A:0.50WA 2
rs1144740331,2
C,F--101789832(+) AGAGAA/GACACA 1 -- int11Minor allele frequency- G:0.03WA 118
rs1422391771,2
C--101789929(+) CAAGGA/GATTTA 1 -- int10--------

HapMap Linkage Disequilibrium report for KIAA1377 (101785746 - 101871793 bp)

Structural Variations
     Database of Genomic Variants (DGV) 6 variations for KIAA1377:    About this table    
Variant IDTypeSubtypePubMed ID
esv2432654CNV Insertion19546169
nsv513332CNV Insertion21212237
esv1725395CNV Insertion17803354
nsv469989CNV Loss18288195
nsv832250CNV Gain17160897
nsv898333CNV Gain21882294

Human Gene Mutation Database (HGMD): KIAA1377
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing KIAA1377
DNA2.0 Custom Variant and Variant Library Synthesis for KIAA1377

(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.)
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OMIM gene information: 614634    OMIM disorders: --

5 diseases for KIAA1377:    
About MalaCards
monomelic amyotrophy    choroiditis    huntington's disease    schizophrenia
retinitis


KIAA1377 for disorders           About GeneDecksing


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)
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PubMed articles for KIAA1377 gene, integrated from 10 sources (see all 15):
(articles sorted by number of sources associating them with KIAA1377)
    Utopia: connect your pdf to the dynamic
world of online information

  1. 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. (DNA Res. 2000)
  2. Exome sequencing identifies KIAA1377 and C5orf42 as susceptibility genes for monomelic amyotrophy. (PubMed id 22264561)1, 2 Lim Y.M.... Kim K.K. (Neuromuscul. Disord. 2012)
  3. Protein phosphatase 1I^ isoforms linked interactions in the brain. (PubMed id 23080069)1 Esteves S.L....da Cruz e Silva E.F. (J. Mol. Neurosci. 2013)
  4. Protein phosphatase 1I+ interacting proteins in the human brain. (PubMed id 22321011)1 Esteves S.L....da Cruz e Silva E.F. (OMICS 2012)
  5. A directed protein interaction network for investigating intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (Sci Signal 2011)
  6. From midbody protein-protein interaction network construction to novel regulators in cytokinesis. (PubMed id 19799413)2 Chen T.C....Huang C.Y. (J. Proteome Res. 2009)
  7. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PubMed id 16554811)2 Taylor T.D....Sakaki Y. (Nature 2006)
  8. A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)1 Stelzl U.... Wanker E.E. (Cell 2005)
  9. 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. (Genome Res. 2004)
  10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (Nat. Genet. 2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
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)
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Entrez Gene: 57562 HGNC: 29264 AceView: KIAA1377 Ensembl:ENSG00000110318 euGenes: HUgn57562
ECgene: KIAA1377 H-InvDB: KIAA1377

(According to HUGE)
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HUGE: KIAA1377

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for KIAA1377 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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