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

KIAA1751 Gene

protein-coding   GIFtS: 28
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)
About This Section

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

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_004350.19  NC_018912.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for KIAA1751

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9C0B2

  • KIAA1751 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KIAA1751 Protein Expression
    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)
    About This Section

    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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KIAA1751

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 KIAA1751 (K1751)

    Search CenterWatch for drugs/clinical trials and news about 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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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™, 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

    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 
     5/1 selected tissues (see all 1) fully expand
     
     Adipose (Muscoskeletal System)
             Mesenchymal Stem Cells Subcutaneous White Adipose

    See KIAA1751 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KIAA1751

    SOURCE GeneReport for Unigene cluster: Hs.232092
        SABiosciences Custom PCR Arrays for KIAA1751
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIAA1751

    (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 KIAA1751 gene from 3/6 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 73.34(n)1
    65.73(a)1
      4 (86.17 cM)5
    5446781  NM_177674.51  NP_808342.31 
     1554091905 
    chicken
    (Gallus gallus)
    Aves LOC1008574571 uncharacterized LOC100857457 52.61(n)
    42.92(a)
      100857457  XM_003642522.1  XP_003642570.1 
    zebrafish
    (Danio rerio)
    Actinopterygii si:dkeyp-87a12.11 si:dkeyp-87a12.1 45.28(n)
    32.92(a)
      335386  XM_002663243.2  XP_002663289.2 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    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) 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

    UniProtKB/Swiss-Prot: K1751_HUMAN, Q9C0B2
    Polymorphism: 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


    10/1900 SNPs in KIAA1751 are shown (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) 10/25 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.)
    About This Section
      --

    (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 KIAA1751 gene integrated from 9 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. (2000)
    2. The BTB and CNC homology 1 (BACH1) target genes are i nvolved in the oxidative stress response and in control of the cell cycle. (PubMed id 21555518)1 Warnatz H.J....Yaspo M.L. (2011)
    3. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (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. (2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (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. (2002)

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

    (According to HUGE)
    About This Section
    HUGE: KIAA1751

    (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 KIAA1751 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 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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, 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, In Situ Hybridization Assays from
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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    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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