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KIAA1671 Gene

protein-coding   GIFtS: 40
GCID: GC22P025348

KIAA1671

  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
KIAA16711 2
CTA-221G9.52
Uncharacterized Protein KIAA16712

External Ids:    HGNC: 293451   Entrez Gene: 853792   Ensembl: ENSG000001970777   UniProtKB: Q9BY893   

Export aliases for KIAA1671 gene to outside databases

Previous GC identifers: GC22P022162 GC22P023761 GC22P023748 GC22P023751 GC22P023734 GC22P025421 GC22P008371


(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 KIAA1671 Gene:
KIAA1671 (KIAA1671) is a protein-coding gene. Diseases associated with KIAA1671 include folliculitis, and papillary thyroid carcinoma. An important paralog of this gene is ENSG00000251180.


(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_000022.11  NT_011520.13  NC_018933.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the KIAA1671 gene promoter:
         COUP-TF1   STAT5B   COUP   HNF-4alpha2   POU6F1 (c2)   HNF-4alpha1   AREB6   COUP-TF   ATF6   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for KIAA1671

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KIAA1671


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

Entrez Gene cytogenetic band: 22q11.23   Ensembl cytogenetic band:  22q11.23   HGNC cytogenetic band: 22q11.23

KIAA1671 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIAA1671 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P025348:  view genomic region     (about GC identifiers)

Start:
25,348,697 bp from pter      End:
25,593,415 bp from pter
Size:
244,719 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: K1671_HUMAN, Q9BY89 (See protein sequence)
Recommended Name: Uncharacterized protein KIAA1671  
Size: 1806 amino acids; 196711 Da
Miscellaneous: Antibodies against KIAA1671 are present in sera from patients with breast cancer who developed
several autoantibodies
Sequence caution: Sequence=BAB33341.1; Type=Erroneous initiation;
Secondary accessions: B0QYF2 B7ZW08 Q5THZ5
Alternative splicing: 2 isoforms:  Q9BY89-1   Q9BY89-2   

Explore the universe of human proteins at neXtProt for KIAA1671: NX_Q9BY89

Explore proteomics data for KIAA1671 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys1738
  • Modification sites at PhosphoSitePlus

  • See KIAA1671 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001138678.1  
    ENSEMBL proteins: 
     ENSP00000385152   ENSP00000385377   ENSP00000351207  

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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: Q9BY89


    (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:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KIAA1671
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    hsa-miR-3664-5p hsa-miR-106a hsa-miR-1258 hsa-miR-4314 hsa-miR-124 hsa-miR-93 hsa-miR-330-3p hsa-miR-506
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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
    nucleus3
    cytosol2
    cytoskeleton1

    (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 KIAA1671
    Interactions:

        Search GeneGlobe Interaction Network for KIAA1671

    (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 KIAA1671 (K1671)



    (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 KIAA1671 gene: 
    NM_001145206.1  

    Unigene Cluster for KIAA1671:

    KIAA1671
    Hs.419171  [show with all ESTs]
    Unigene Representative Sequence: NM_001145206
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000406486 ENST00000494730 ENST00000461374 ENST00000401395(uc003abl.3)
    ENST00000358431(uc003abn.3)
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    Selected qRT-PCR Assays for microRNAs that regulate KIAA1671 (see all 52):
    hsa-miR-3664-5p hsa-miR-106a hsa-miR-1258 hsa-miR-4314 hsa-miR-124 hsa-miR-93 hsa-miR-330-3p hsa-miR-506
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      QuantiFast Probe-based Assays in human, mouse, rat KIAA1671

    Additional mRNA sequence: 

    AB051458.1 AK025418.1 AK057551.1 AL832019.1 BC171801.1 

    8 DOTS entries:

    DT.444270  DT.100025747  DT.40271613  DT.100025746  DT.120654638  DT.120654726  DT.97841098  DT.86997550 

    Selected AceView cDNA sequences (see all 102):

    T32718 AI470364 BF939947 BQ187573 AI690792 AA309106 BU857756 BU584878 
    AA369128 N52705 BM668047 BX951573 Z39334 BM976830 AI538293 BX280582 
    BE886014 BQ717872 CK826522 CB120751 AI874035 BX641215 BQ876587 AL832019 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for KIAA1671    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8
    SP1:                                                
    SP2:                                                


    ECgene alternative splicing isoforms for KIAA1671

    (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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    KIAA1671 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TACAAAGATG
    KIAA1671 Expression
    About this image


    KIAA1671 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Umbilical Cord (Extraembryonic Tissues)
             Wharton's jelly-derived stem cells
    KIAA1671 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KIAA1671 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.419171
        Custom PCR Arrays for KIAA1671
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIAA1671

    (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 KIAA1671 gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves --
    Gallus gallus uncharacterized protein KIAA1671 hom...
    62(a)
    1 → many
    15(6968228-6991911)
    zebrafish
    (Danio rerio)
    Actinopterygii tnks1bp16
    si:ch73-138n13.16
    si:ch73-138n13.1
    29(a)
    16(a)
    many ↔ many
    many ↔ many
    5(6411256-6446287) ENSDARG00000068760
    8(44682243-44753004) ENSDARG00000075349
            Species with no ortholog for KIAA1671

    ENSEMBL Gene Tree for KIAA1671 (if available)
    TreeFam Gene Tree for KIAA1671 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KIAA1671 gene
    ENSG000002511802  

    KIAA1671 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 KIAA1671 (see all 3249)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1383283631,2
    C--25422643(+) TGTGA-/GCCAAG 1 -- us2k10--------
    rs3745493681,2
    C--25422652(+) AGGTCA/GGCCAT 1 -- us2k10--------
    rs1145303941,2
    C--25423062(+) GTTGGA/GCGTTT 1 -- us2k10--------
    rs1175778441,2
    C--25424391(+) CTCCAA/GCACCA 2 N S mis10--------
    rs3753709461,2
    C--25424548(-) GACCGA/GGGAAG 2 P syn10--------
    rs1178470711,2
    C--25424579(+) CAAAAA/CCACCT 2 T P mis10--------
    rs1162539461,2
    C--25425282(+) CAGGAA/GGTGCA 2 K R mis10--------
    rs1149259961,2
    C,F--25425340(+) GAATCT/CCCCCT 2 /S syn11Minor allele frequency- C:0.34EU 297
    rs1155251221,2
    C,F--25425403(+) AGCGTT/CCAGGA 2 /V syn11Minor allele frequency- C:0.22EU 495
    rs2007716521,2
    F--25425430(+) ACTGCC/TGAGAG 2 A syn11Minor allele frequency- T:0.01EU 489

    HapMap Linkage Disequilibrium report for KIAA1671 (25348697 - 25593415 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for KIAA1671 (see all 30):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2724078CNV Deletion23290073
    esv2724076CNV Deletion23290073
    esv2724077CNV Deletion23290073
    esv2724075CNV Deletion23290073
    esv2657573CNV Deletion23128226
    esv2042759CNV Deletion18987734
    dgv24e196CNV Duplication17116639
    esv272960CNV Insertion20981092
    nsv3581CNV Insertion18451855
    esv270090CNV Insertion20981092

    Site Specific Mutation Identification with PCR Assays
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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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    4 diseases for KIAA1671:    
    About MalaCards
    folliculitis    papillary thyroid carcinoma    thyroiditis    breast cancer


    KIAA1671 for disorders           About GeneDecksing


    Export disorders for KIAA1671 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 KIAA1671 gene, integrated from 10 sources (see all 14):
    (articles sorted by number of sources associating them with KIAA1671)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Autoantibodies to annexin XI-A and other autoantigens in the diagnosis of breast cancer. (PubMed id 15289310)1, 2, 3 Fernandez-Madrid F.... Karvonen R.L. (Cancer Res. 2004)
    2. Identification of novel transcribed sequences on human chromosome 22 by expressed sequence tag mapping. (PubMed id 11258795)1, 2 Hirosawa M.... Ohara O. (DNA Res. 2001)
    3. Protein interaction network of the mammalian Hippo pathway reveals mechanisms of kinase-phosphatase interactions. (PubMed id 24255178)1 Couzens A.L....Gingras A.C. (Sci Signal 2013)
    4. Differential expression of a set of genes in follicular and classic variants of papillary thyroid carcinoma. (PubMed id 21509594)1 Igci Y.Z....Demiryurek A.T. (Endocr. Pathol. 2011)
    5. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    6. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (Sci. Signal. 2010)
    7. Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. (PubMed id 19413330)2 Gauci S....Mohammed S. (Anal. Chem. 2009)
    8. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (Proc. Natl. Acad. Sci. U.S.A. 2008)
    9. Large-scale phosphoproteome analysis of human liver tissue by enrichment and fractionation of phosphopeptides with strong anion exchange chromatography. (PubMed id 18318008)2 Han G.... Gu J. (Proteomics 2008)
    10. A germline-specific class of small RNAs binds mammalian Piwi proteins. (PubMed id 16751776)1 Girard A....Carmell M.A. (Nature 2006)

    (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: 85379 HGNC: 29345 AceView: KIAA1671.1 Ensembl:ENSG00000197077 euGenes: HUgn85379
    ECgene: KIAA1671 H-InvDB: KIAA1671

    (According to HUGE)
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    HUGE: KIAA1671

    (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 KIAA1671 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 KIAA1671 gene:
    Search GeneIP for patents involving KIAA1671

    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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