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KIAA1875 Gene

protein-coding   GIFtS: 35
GCID: GC08P145162

KIAA1875

  Search for KIAA1875
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
KIAA18751 2

External Ids:    HGNC: 269591   Entrez Gene: 3403902   Ensembl: ENSG000001796987   UniProtKB: A6NE523   

Export aliases for KIAA1875 gene to outside databases

Previous GC identifers: GC00U990996 GC08P144938 GC08P145268 GC08P145234 GC08P140438


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for KIAA1875 Gene:
The function and protein-coding potential of this gene is unknown. The exon combination is based on AB058778.1 for
which two possible open reading frames can be predicted (with start codons at nucleotide 26 or 2614). The
position of the first ORF stop codon is consistent with a prediction of nonsense-mediated decay. Given the
observation of the first ORF and its length, a predicted translation of the second ORF is inconsistent with the
translation leaky scanning theory. Therefore, this gene is represented as a non-protein-coding transcript.
(provided by RefSeq, Oct 2008)

GeneCards Summary for KIAA1875 Gene:
KIAA1875 (KIAA1875) is a protein-coding 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_000008.11  NC_018919.2  NT_008046.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the KIAA1875 gene promoter:
         NF-1   STAT1   Elk-1   COUP   STAT1beta   E47   STAT1alpha   Max   COUP-TF   c-Myc   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KIAA1875


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

Entrez Gene cytogenetic band: 8q24.3   Ensembl cytogenetic band:  8q24.3   HGNC cytogenetic band: 8q24.3

KIAA1875 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIAA1875 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P145162:  view genomic region     (about GC identifiers)

Start:
145,162,629 bp from pter      End:
145,173,218 bp from pter
Size:
10,590 bases      Orientation:
plus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for KIAA1875

(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: K1875_HUMAN, A6NE52 (See protein sequence)
Recommended Name: WD repeat-containing protein KIAA1875  
Size: 1622 amino acids; 180307 Da
Sequence caution: Sequence=BAB47504.1; Type=Erroneous translation; Note=Wrong choice of CDS;
Secondary accessions: Q96JF2
Alternative splicing: 2 isoforms:  A6NE52-1   A6NE52-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for KIAA1875: NX_A6NE52

Explore proteomics data for KIAA1875 at MOPED


See KIAA1875 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB


ENSEMBL proteins: 
 ENSP00000435391   ENSP00000320648  

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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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HGNC Gene Families:
WDR: WD repeat domain containing

4 InterPro protein domains:
 IPR019775 WD40_repeat_CS
 IPR017986 WD40_repeat_dom
 IPR015943 WD40/YVTN_repeat-like_dom
 IPR001680 WD40_repeat

Graphical View of Domain Structure for InterPro Entry A6NE52

ProtoNet protein and cluster: A6NE52

UniProtKB/Swiss-Prot: K1875_HUMAN, A6NE52
Similarity: Contains 6 WD repeats


KIAA1875 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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     Gene Ontology (GO): 1 molecular function term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005515protein binding ----
     
KIAA1875 for ontologies           About GeneDecksing


Phenotypes:
     1 GenomeRNAi human phenotype for KIAA1875:
 Synthetic lethal with Ras 

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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 COMPARTMENTS: 

CompartmentConfidence
cytosol3
nucleus3

(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 KIAA1875
Interactions:

    Search GeneGlobe Interaction Network for KIAA1875

STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

Selected Interacting proteins for KIAA1875 (A6NE523 ENSP000003206484) via UniProtKB, MINT, STRING, and/or I2D (see all 20)
InteractantInteraction Details
GeneCardExternal ID(s)
FBXW7Q969H03, ENSP000002817084I2D: score=2 STRING: ENSP00000281708
ATRENSP000003437414STRING: ENSP00000343741
CHEK2ENSP000003720234STRING: ENSP00000372023
RAD1ENSP000003408794STRING: ENSP00000340879
RAD17ENSP000003701514STRING: ENSP00000370151
About this table

(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 Tocris compounds for KIAA1875 (K1875)



(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 KIAA1875 gene: 
NM_032529.1  

Unigene Cluster for KIAA1875:

KIAA1875
Hs.98723  [show with all ESTs]
Unigene Representative Sequence: AB058778
6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000534167(uc011lky.1 uc003zbd.3) ENST00000323662(uc011lkz.1)
ENST00000525150 ENST00000533108 ENST00000528691 ENST00000529209
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Additional mRNA sequence: 

AB058778.1 AK302485.1 NR_024207.1 

5 DOTS entries:

DT.95362899  DT.101979801  DT.97794176  DT.75189170  DT.452756 

9 AceView cDNA sequences:

AI567202 AL044846 AK124611 AK095597 AL137446 AB058778 AA860909 AA431662 
AA431309 

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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KIAA1875 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: ACTTACAATC
KIAA1875 Expression
About this image

KIAA1875 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

KIAA1875 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.98723
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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)
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This gene was present in the common ancestor of chordates.

Orthologs for KIAA1875 gene from Selected species (see all 6)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia 155 predicted gene 6661   --   N/A -
lizard
(Anolis carolinensis)
Reptilia KIAA18756
KIAA1875
36(a)
1 ↔ 1
GL344432.1(9445-28346)


ENSEMBL Gene Tree for KIAA1875 (if available)
TreeFam Gene Tree for KIAA1875 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for KIAA1875 gene
2 SIMAP similar genes for KIAA1875 using alignment to 2 protein entries:     K1875_HUMAN (see all proteins):
DKFZp434F0427    POC1B

KIAA1875 for paralogs           About GeneDecksing



(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 KIAA1875 (see all 207)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 8 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs49771961,2,,4
C,F,A,H--145163414(-) AAGCCC/GGACAG 1 -- nc-transcript-variantese313Minor allele frequency- G:0.14NS EA NA WA CSA 788
rs766623471,2
C,F--145163428(+) GGGCTG/AGTGAC 1 -- nc-transcript-variant2Minor allele frequency- A:0.10CSA WA 120
rs125475901,2
H--145163595(+) CCTCAC/GGCTGC 1 -- nc-transcript-variantese30--------
rs726954341,2
C--145163621(+) TGAACA/GGCAGC 1 -- nc-transcript-variant1Minor allele frequency- G:0.01NA 120
rs49771951,2
C,A--145163647(-) CCTGAG/ACGGAA 1 -- nc-transcript-variant10Minor allele frequency- A:0.14NA CSA WA EA 370
rs1878985991,2
--145163809(+) CATGCC/TTGGAC 1 -- nc-transcript-variant0--------
rs1919860291,2
--145163892(+) GCACAC/GGGCCC 1 -- int10--------
rs1512256511,2
--145163919(+) GTTAAA/GTCCAT 1 -- int10--------
rs1410924481,2
--145163977(+) ACTGCA/GAGGAA 1 -- nc-transcript-variant0--------
rs1852299411,2
--145163994(+) GCAATG/TGTGAC 1 -- nc-transcript-variant0--------

HapMap Linkage Disequilibrium report for KIAA1875 (145162629 - 145173218 bp)

Structural Variations
     Database of Genomic Variants (DGV) Selected variations for KIAA1875 (see all 23):    About this table    
Variant IDTypeSubtypePubMed ID
nsv6448CNV Insertion18451855
nsv891809CNV Loss21882294
dgv7949n71CNV Loss21882294
dgv7950n71CNV Loss21882294
dgv906n27CNV Loss19166990
nsv891812CNV Loss21882294
dgv7955n71CNV Loss21882294
nsv891807CNV Loss21882294
dgv7954n71CNV Loss21882294
esv29971CNV Loss17803354

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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.)
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  --

(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 KIAA1875 gene integrated from 10 sources:
(articles sorted by number of sources associating them with KIAA1875)
    Utopia: connect your pdf to the dynamic
world of online information

  1. 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. (DNA Res. 2001)
  2. DNA sequence and analysis of human chromosome 8. (PubMed id 16421571)2 Nusbaum C....Lander E.S. (Nature 2006)
  3. A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)1 Stelzl U.... Wanker E.E. (Cell 2005)
  4. 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: 340390 HGNC: 26959 AceView: KIAA1875 Ensembl:ENSG00000179698 euGenes: HUgn340390
ECgene: KIAA1875 H-InvDB: KIAA1875

(According to HUGE)
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HUGE: KIAA1875

(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 KIAA1875 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 KIAA1875 gene:
Search GeneIP for patents involving KIAA1875

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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 Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIAA1875
 Browse SwitchGear 3'UTR luciferase reporter plasmids for KIAA1875
 Browse SwitchGear Promoter luciferase reporter plasmids for KIAA1875
 Search ThermoFisher Antibodies for KIAA1875
 Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat KIAA1875
 inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KIAA1875
 inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for KIAA1875
 Search LSBio for Antibodies for KIAA1875
Customized transgenic rodents for:
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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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