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KIAA1751 Gene

protein-coding   GIFtS: 29
GCID: GC01M001853          (predicted)

KIAA1751

  Search for KIAA1751
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
KIAA17511 2
Uncharacterized Protein KIAA17512

External Ids:    HGNC: 293681   Entrez Gene: 854522   UniProtKB: Q9C0B23   

Export aliases for KIAA1751 gene to outside databases

Previous GC identifers: GC01M001442 GC01U900052 GC01M9L0050 GC00P9Y0072 GC01M001916


(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 KIAA1751 Gene:
KIAA1751 (KIAA1751) 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_000001.11  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the KIAA1751 gene promoter:
         Egr-3   AREB6   NF-1/L   NF-AT2   NRSF form 1   NRSF form 2   NF-AT1   NF-AT   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for KIAA1751

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KIAA1751


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

Entrez Gene cytogenetic band: 1p36.33   HGNC cytogenetic band: 1p36.33

KIAA1751 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIAA1751 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M001853:  view genomic region     (about GC identifiers)

Start:
1,884,752 bp from pter      End:
1,935,276 bp from pter
Size:
50,525 bases      Orientation:
minus strand
KIAA1751 has overlapping exons with:
C1orf222

(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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: K1751_HUMAN, Q9C0B2 (See protein sequence)
Recommended Name: Uncharacterized protein KIAA1751  
Size: 762 amino acids; 86956 Da
Secondary accessions: A4VCI2 Q5T2D9 Q5T2E0 Q6ZSJ4
Alternative splicing: 3 isoforms:  Q9C0B2-1   Q9C0B2-2   Q9C0B2-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for KIAA1751: NX_Q9C0B2

Explore proteomics data for KIAA1751 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See KIAA1751 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001073953.1  

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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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    ProtoNet protein and cluster: Q9C0B2


    (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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    Animal Models:
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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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      --

    (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 KIAA1751
    Interactions:

        Search GeneGlobe Interaction Network for KIAA1751

    (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 KIAA1751 (K1751)



    (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,
    Conferences by KenesGroup, 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 KIAA1751 gene: 
    NM_001080484.1  

    Unigene Cluster for KIAA1751:

    KIAA1751
    Hs.232092  [show with all ESTs]
    Unigene Representative Sequence: NM_001080484
    miRNA
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    Additional mRNA sequence: 

    AB051538.1 AK127388.1 BC139754.1 

    5 DOTS entries:

    DT.91962168  DT.101976792  DT.95213435  DT.97823881  DT.121389597 

    5 AceView cDNA sequences:

    BQ011193 BQ011569 AK127388 AB051538 AL597773 

    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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    KIAA1751 expression in normal human tissues (normalized intensities)      KIAA1751 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    KIAA1751 Expression
    About this image


    KIAA1751 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Ovary (Reproductive System)
             Oviduct
     
     Adipose (Muscoskeletal System)
             Mesenchymal Stem Cells Subcutaneous White Adipose
     
     Mesenchymal Stem Cells
             Mesenchymal Stem Cells Subcutaneous White Adipose
    KIAA1751 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KIAA1751 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.232092
        Custom PCR Arrays for KIAA1751
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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 KIAA1751 gene from Selected species (see all 6)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 2010015L04Rik1 , 5 RIKEN cDNA 2010015L04 gene1, 5 73.62(n)1
    66.91(a)1
      4 (86.17 cM)5
    5446781  NM_177674.51  NP_808342.31 
     1554091905 
    chicken
    (Gallus gallus)
    Aves KIAA17511 KIAA1751 54.4(n)
    44.72(a)
      419400  XM_417562.4  XP_417562.4 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia c1orf2221 chromosome 1 open reading frame 222 53.69(n)
    44.28(a)
      100158555  NM_001197252.1  NP_001184181.1 
    zebrafish
    (Danio rerio)
    Actinopterygii si:dkeyp-87a12.11 si:dkeyp-87a12.1 48.02(n)
    35.2(a)
      335386  XM_002663243.3  XP_002663289.3 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KIAA1751 gene
    1 SIMAP similar gene for KIAA1751 using alignment to 1 protein entry:     K1751_HUMAN:
    C1orf222

    KIAA1751 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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    Polymorphic Variants from UniProtKB/Swiss-Prot
    K1751_HUMAN, Q9C0B2: PubMed:11214970 sequence (BAB21842) differs from that shown due to a possible polymorphism in
    position 763 that produces a Gln residue instead of a stop codon (dbSNP:rs28548017) and leads to a protein of 768
    residues whose C-terminal sequence is Ser-Gln-Ala-Phe-Asp-Val-Lys instead of Ser


    Selected SNPs for KIAA1751 (see all 1900)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs355955111,2
    C--1884263(-) TTTTT-/TAATTA 1 -- ds50010--------
    rs1119776651,2
    C--1884263(+) TAATTA/TAAAAA 1 -- ds50010--------
    rs1900035931,2
    --1884295(+) TCTCCC/TTATGT 1 -- ds50010--------
    rs1825395731,2
    --1884308(+) CCCAGG/TCTGGT 1 -- ds50010--------
    rs1457520251,2
    C--1884411(+) TTAAGA/TTGTCA 1 -- ds50010--------
    rs1856293561,2
    --1884427(+) CCCCAA/GATTGA 1 -- ds50010--------
    rs1385542321,2
    C--1884736(+) CTTGC-/TTTTTTT 1 -- ds50010--------
    rs1466107841,2
    --1884820(+) ACCTCC/TGCCTC 1 -- ut310--------
    rs1915618161,2
    --1884842(+) CAATTC/TTCTTG 1 -- ut310--------
    rs576422191,2
    C--1884880(+) CAGGCG/ACCCGC 1 -- ut311Minor allele frequency- A:0.50WA 2

    HapMap Linkage Disequilibrium report for KIAA1751 (1884752 - 1935276 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for KIAA1751 (see all 25):    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv5e201CNV Deletion23290073
    esv2714695CNV Deletion23290073
    esv2381744CNV Deletion18987734
    esv2668919CNV Deletion23128226
    esv2715251CNV Deletion23290073
    esv2714473CNV Deletion23290073
    esv2715029CNV Deletion23290073
    esv2714029CNV Deletion23290073
    esv2714806CNV Deletion23290073
    esv2715140CNV Deletion23290073

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, 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 KIAA1751 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with KIAA1751)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 11214970)1, 2 Nagase T.... Ohara O. (DNA Res. 2000)
    2. The BTB and CNC homology 1 (BACH1) target genes are involved in the oxidative stress response and in control of the cell cycle. (PubMed id 21555518)1 Warnatz H.J....Yaspo M.L. (J. Biol. Chem. 2011)
    3. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (Nature 2006)
    4. 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. (Genome Res. 2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (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: 85452 HGNC: 29368 AceView: KIAA1751 euGenes: HUgn85452 ECgene: KIAA1751
    H-InvDB: KIAA1751

    (According to HUGE)
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    HUGE: KIAA1751

    (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 KIAA1751 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 KIAA1751 gene:
    Search GeneIP for patents involving KIAA1751

    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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