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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

KIAA0040 Gene

protein-coding   GIFtS: 39
GCID: GC01M175126

KIAA0040

 Explore 2 diseases affiliated with
KIAA0040 via our new
 Human Malady Compendium 
Biological research products
for KIAA0040
    

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

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
KIAA00401 2
Uncharacterized Protein KIAA00402

External Ids:    HGNC: 289501   Entrez Gene: 96742   Ensembl: ENSG000002357507   UniProtKB: Q150533   
ORGUL members:         
NONCODE:n378134    

Export aliases for KIAA0040 gene to outside databases

Previous GC identifers: GC01M172650 GC01M170554 GC01M171706 GC01M172365 GC01M171857 GC01M173392 GC01M146352


(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_000001.10  NC_018912.1  NT_004487.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KIAA0040 gene promoter:
         IRF-2   AML1a   IRF-7A   ARP-1   IRF-1   LCR-F1   C/EBPalpha   FOXL1   Gfi-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for KIAA0040

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KIAA0040


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

Entrez Gene cytogenetic band: 1q24-q25   Ensembl cytogenetic band:  1q25.1   HGNC cytogenetic band: 1q24-q25

KIAA0040 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIAA0040 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M175126:  view genomic region     (about GC identifiers)

Start:
175,126,123 bp from pter      End:
175,162,229 bp from pter
Size:
36,107 bases      Orientation:
minus 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: K0040_HUMAN, Q15053 (See protein sequence)
Recommended Name: Uncharacterized protein KIAA0040  
Size: 153 amino acids; 17035 Da
Sequence caution: Sequence=BAA05022.2; Type=Erroneous initiation;
Secondary accessions: A8K9H6 Q2NKQ0

Explore the universe of human proteins at neXtProt for KIAA0040: NX_Q15053

KIAA0040 Protein expression data from MOPED and PaxDb: --

REFSEQ proteins (4 alternative transcripts): 
NP_001156365.1  NP_001156366.1  NP_001156367.1  NP_055471.2  

ENSEMBL proteins: 
 ENSP00000462172   ENSP00000463734   ENSP00000464040  

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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: Q15053


(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

miRNA
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1 GenomeRNAi human phenotype for KIAA0040:
 Increased G1 DNA content 


(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 CentralTM Interacting Genes and Proteins Networks for KIAA0040

(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 Tocris compounds for KIAA0040
Search CenterWatch for drugs/clinical trials and news about KIAA0040 / K0040 

(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,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
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 KIAA0040 gene (4 alternative transcripts): 
NM_001162893.1  NM_001162894.1  NM_001162895.1  NM_014656.2  

Unigene Cluster for KIAA0040:

KIAA0040
Hs.518138  [show with all ESTs]
Unigene Representative Sequence: NM_001162893
5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000423313(uc009wws.2 uc001gkn.3) ENST00000444639(uc010pmy.1 uc001gko.3)
ENST00000545251 ENST00000567124 ENST00000563563

miRNA
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hsa-miR-549 hsa-miR-3934 hsa-miR-3607-3p hsa-miR-429 hsa-miR-3660 hsa-miR-202 hsa-miR-218 hsa-miR-888*
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Inhib. RNA
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Additional cDNA sequence: 

AK292691.1 AL049799.1 AL049800.1 BC032361.1 BC050374.1 BC111699.1 D25539.1 

10 DOTS entries:

DT.216458  DT.97869885  DT.86855609  DT.121384391  DT.121384385  DT.100844067  DT.121384356  DT.70103637 
DT.92424801  DT.99998425 

24/148 AceView cDNA sequences (see all 148):

BQ433299 AW080522 AL049800 AI834294 CR618094 AI087326 NM_014656 AA443568 
CR602920 AL049799 CA395631 AW963093 AW102804 AA296438 BP344817 AA443567 
BG743303 AA359242 CR625052 AW000797 AI828958 CA310601 BI818404 CB120310 

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

KIAA0040 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGACTATTTA

Microarray
RNAseq (Illumina Body Map)
(100×FPKM)½
SAGE (Serial Analysis of Gene Expression)

About this image

KIAA0040 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 CellCategory (developmental path)
KidneyRenal VesicleKidney
Expression: Positive    Negative     Selective marker
Experimental details: Curated     Microarrays     In-situ hybridization
Stem Cell Differentiation: 1 LifeMap Cell 
NameCategory
Definitive endoderm-like cells (A scalable, suspensi...)

Genevestigator expression for KIAA0040

SOURCE GeneReport for Unigene cluster: Hs.518138
    SABiosciences Custom PCR Arrays for KIAA0040
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIAA0040

(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 KIAA0040 gene from 2/5 species (see all 5)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia 4930523C07Rik1 , 5 RIKEN cDNA 4930523C07 gene1, 5 82.49(n)1
71.72(a)1
  1 (69.32 cM)5
676471  NM_001162896.11  NP_001156368.11 
 1600443845 
chicken
(Gallus gallus)
Aves KIAA00401 KIAA0040 72.11(n)
62.24(a)
  424434  XM_003641663.1  XP_003641711.1 


ENSEMBL Gene Tree for KIAA0040 (if available)
TreeFam Gene Tree for KIAA0040 (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

10/642 NCBI SNPs in KIAA0040 are shown (see all 642    About this table
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 1 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs57788391,2
C,F,--146374373(+) GGGGCG/-GGGGG 1 -- int13Minor allele frequency- -:0.33NA 6
rs43901381,2
C,H,--175125840(+) TGGGAG/AGCTGG 4 -- ds500117Minor allele frequency- A:0.01NS EA NA WA CSA 790
rs120347051,2
C,--175125882(+) GCCTGG/ACCAGT 4 -- ds50013Minor allele frequency- A:0.17NA 6
rs1414549311,2
C,--175125917(+) AATAT-/AAAAAA 4 -- ds50010--------
rs610866151,2
C--175126074(+) ATCTC-/AAAAAA
        
AAAAA
4 -- ds50010--------
rs2004688961,2
--175126088(+) AAAAA-/AAGAAAAA 4 -- ds50010--------
rs1145906491,2
F,--175126204(+) CCATAT/CTGAAC 4 -- ut311Minor allele frequency- C:0.02WA 118
rs571435571,2
C,--175126222(+) ACACAC/ATTACA 4 -- ut312Minor allele frequency- A:0.02WA 120
rs10573051,2
C,F,O,A,H,--175126223(-) GTGTAA/TGTGTG 4 -- ut3112Minor allele frequency- T:0.37MN NS EA NA WA 970
rs1407678021,2
--175126226(+) ACTTAC/TACACA 4 -- ut310--------

HapMap Linkage Disequilibrium report for KIAA0040 (175126123 - 175162229 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for KIAA0040
     1 CNV: 70442

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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

KIAA0040 for disorders           About GeneDecksing

2 diseases for KIAA0040:    About MalaCards
alcohol dependence    alcoholism


Export disorders for KIAA0040 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 KIAA0040 gene integrated from 9 sources:
(articles sorted by number of sources associating them with KIAA0040)
    Utopia: connect your pdf to the dynamic
world of online information

  1. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
  2. Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1. (PubMed id 7584026)1, 2 Nomura N.... Tabata S. (1994)
  3. Genome-wide association study of alcohol dependence im plicates KIAA0040 on chromosome 1q. (PubMed id 21956439)1 Zuo L....Luo X. (2012)
  4. A meta-analysis of two genome-wide association studie s identifies 3 new loci for alcohol dependence. (PubMed id 21703634)1 Wang K.S....Zeng M. (2011)
  5. 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)
  6. 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)
  7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
  8. 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)
  9. Prediction of the coding sequences of unidentified hu man genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell li ne KG-1 (supplement). (PubMed id 7584028)1 Nomura N....Tabata S. (1994)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 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)
About This Section
Entrez Gene: 9674 HGNC: 28950 AceView: KIAA0040 Ensembl:ENSG00000235750 euGenes: HUgn9674
ECgene: KIAA0040 H-InvDB: KIAA0040

(According to HUGE)
About This Section
HUGE: KIAA0040

(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
NameDescription
PharmGKB entry for KIAA0040 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for KIAA0040 gene:
Search GeneIP for patents involving KIAA0040

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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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

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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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