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KIAA1211 Gene

protein-coding   GIFtS: 40
GCID: GC04P057036

KIAA1211

  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
KIAA12111 2
Uncharacterized Protein KIAA12112

External Ids:    HGNC: 292191   Entrez Gene: 574822   Ensembl: ENSG000001092657   UniProtKB: Q6ZU353   

Export aliases for KIAA1211 gene to outside databases

Previous GC identifers: GC04P056984 GC04P057142 GC04P057025 GC04P057090 GC04P056951 GC04P056877 GC04U900691 GC04P056731 GC04P052990


(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 KIAA1211 Gene:
KIAA1211 (KIAA1211) is a protein-coding gene. Diseases associated with KIAA1211 include pulmonary function, and endotheliitis. An important paralog of this gene is KIAA1211L.


(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_000004.12  NT_022853.16  NC_018915.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the KIAA1211 gene promoter:
         ER-alpha   ISGF-3   GATA-3   POU3F2   LCR-F1   GATA-2   GATA-1   FOXC1   HSF2   ATF6   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for KIAA1211

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KIAA1211


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

Entrez Gene cytogenetic band: 4q12   Ensembl cytogenetic band:  4q12   HGNC cytogenetic band: 4q12

KIAA1211 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIAA1211 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P057036:  view genomic region     (about GC identifiers)

Start:
57,036,361 bp from pter      End:
57,196,890 bp from pter
Size:
160,530 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: K1211_HUMAN, Q6ZU35 (See protein sequence)
Recommended Name: Uncharacterized protein KIAA1211  
Size: 1233 amino acids; 136760 Da
Sequence caution: Sequence=BAA86525.1; Type=Miscellaneous discrepancy; Note=Unlikely isoform. Aberrant splice
sites; Sequence=CAB61360.2; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: Q9NTE2 Q9NTP8 Q9ULK9

Explore the universe of human proteins at neXtProt for KIAA1211: NX_Q6ZU35

Explore proteomics data for KIAA1211 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See KIAA1211 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_065773.1  
    ENSEMBL proteins: 
     ENSP00000264229   ENSP00000423366   ENSP00000473672   ENSP00000444006  

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    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR028030 DUF4592

    Graphical View of Domain Structure for InterPro Entry Q6ZU35

    ProtoNet protein and cluster: Q6ZU35


    KIAA1211 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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    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KIAA1211
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    miRNA
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    hsa-mir-27b-3p (MIRT046224), hsa-mir-769-5p (MIRT039152)

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    Selected qRT-PCR Assays for microRNAs that regulate KIAA1211 (see all 82):
    hsa-miR-323-3p hsa-miR-548j hsa-miR-300 hsa-miR-200a hsa-miR-30d hsa-miR-30a hsa-miR-4325 hsa-miR-3613-3p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat KIAA1211

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    GenScript: all cDNA clones in your preferred vector: KIAA1211 (NM_020722)
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIAA1211


    (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
    cytosol1

    (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 KIAA1211
    Interactions:

        Search GeneGlobe Interaction Network for KIAA1211

    (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 KIAA1211 (K1211)



    (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 KIAA1211 gene: 
    NM_020722.1  

    Unigene Cluster for KIAA1211:

    KIAA1211
    Hs.596667  [show with all ESTs]
    Unigene Representative Sequence: NM_020722
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000264229(uc011bzz.1 uc003hbm.1) ENST00000503618 ENST00000504228(uc003hbk.2 uc010iha.2)
    ENST00000505410(uc003hbl.3) ENST00000514330 ENST00000541073
    miRNA
    Products:
         
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    Selected qRT-PCR Assays for microRNAs that regulate KIAA1211 (see all 82):
    hsa-miR-323-3p hsa-miR-548j hsa-miR-300 hsa-miR-200a hsa-miR-30d hsa-miR-30a hsa-miR-4325 hsa-miR-3613-3p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for KIAA1211
    Predesigned siRNA for gene silencing in human, mouse, rat KIAA1211
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    OriGene clones in human, mouse for KIAA1211 (see all 6)
    OriGene ORF clones in mouse, rat for KIAA1211
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: KIAA1211 (NM_020722)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KIAA1211
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for KIAA1211
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat KIAA1211
      QuantiTect SYBR Green Assays in human, mouse, rat KIAA1211
      QuantiFast Probe-based Assays in human, mouse, rat KIAA1211

    Additional mRNA sequence: 

    AB033037.1 AK097530.1 AK126014.1 AK302486.1 AL110138.1 AL133028.1 AL137336.1 BC144536.1 
    BC150615.1 BC171783.1 

    7 DOTS entries:

    DT.310481  DT.99931417  DT.99943202  DT.121239926  DT.121239934  DT.40111851  DT.95246283 

    Selected AceView cDNA sequences (see all 59):

    AI167818 BU159506 AA598594 AA001785 BM719328 BM683259 AA972128 AI952021 
    BU154905 M85460 AK126014 BE855799 AI827770 BE409738 AL110138 AA805764 
    BM831912 AI962616 AI362069 BX451565 AA252198 AI934672 BM834714 AB033037 

    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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    KIAA1211 expression in normal human tissues (normalized intensities)      KIAA1211 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    KIAA1211 Expression
    About this image


    KIAA1211 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Endothelium (Cardiovascular System)    fully expand to see all 2 entries
             Adult Endothelial Cells Blood Brain Barrier
     
     Placenta (Extraembryonic Tissues)    fully expand to see all 2 entries
             Placenta-derived mesenchymal stem cells (family)
     
     Mesenchymal Stem Cells (Uncategorized)    fully expand to see all 2 entries
             Placenta-derived mesenchymal stem cells (family)
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Adult Endothelial Cells Blood Brain Barrier
     
     Umbilical Cord (Extraembryonic Tissues)
             Wharton's jelly-derived stem cells
    KIAA1211 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KIAA1211 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.596667
        Custom PCR Arrays for KIAA1211
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for KIAA1211
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat KIAA1211
    QuantiTect SYBR Green Assays in human, mouse, rat KIAA1211
    QuantiFast Probe-based Assays in human, mouse, rat KIAA1211
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIAA1211

    (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 KIAA1211 gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia C530008M17Rik5 RIKEN cDNA C530008M17 gene   --   5 (41.34 cM) 76657683 
    chicken
    (Gallus gallus)
    Aves KIAA12116
    KIAA1211
    47(a)
    1 ↔ 1
    4(64418839-64453487)
    lizard
    (Anolis carolinensis)
    Reptilia KIAA12116
    KIAA1211
    72(a)
    1 ↔ 1
    5(105290145-105301953)
    zebrafish
    (Danio rerio)
    Actinopterygii si:dkeyp-117h8.26
    si:dkeyp-117h8.2
    39(a)
    1 ↔ 1
    20(25689446-25738956) ENSDARG00000011602


    ENSEMBL Gene Tree for KIAA1211 (if available)
    TreeFam Gene Tree for KIAA1211 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KIAA1211 gene
    KIAA1211L2  

    KIAA1211 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 KIAA1211 (see all 3573)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs604736681,2
    C--53074494(+) TGGGG-/GTTTTTTT 1 -- int10--------
    rs1118115481,2
    C--53085387(+) GAGGGGTGT/-  
            
    GTGTG
    1 -- int11Minor allele frequency- -:0.50CSA 2
    rs623086481,2
    C,F--57034370(+) TTTCAT/CAGATG 1 -- us2k110Minor allele frequency- C:0.32WA NA CSA EA 371
    rs623086491,2
    C,F--57034440(+) AAAAGG/AATGTT 1 -- us2k19Minor allele frequency- A:0.33WA NA CSA EA 369
    rs746745761,2
    C--57034482(+) TTTTTTTT/-CTTCT 1 -- cds11Minor allele frequency- -:0.50CSA 2
    rs786867801,2
    --57034488(+) TTTTTT/CTTCTT 1 -- us2k11Minor allele frequency- C:0.00CSA 1
    rs1437483741,2
    --57034496(+) CTTTTA/TGTCTG 1 -- us2k10--------
    rs731551551,2
    C,F--57034554(+) GATAAG/ACATCA 1 -- us2k11Minor allele frequency- A:0.50WA 2
    rs1409683361,2
    --57034880(+) AATTTA/GTATAT 1 -- us2k10--------
    rs1502199231,2
    --57034923(+) TAGAAA/GGACAC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for KIAA1211 (57036361 - 57196890 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for KIAA1211:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2671346CNV Deletion23128226
    nsv518368CNV Loss19592680
    nsv293732CNV Loss16902084
    nsv829940CNV Gain17160897
    nsv818233CNV Gain17921354

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KIAA1211
    DNA2.0 Custom Variant and Variant Library Synthesis for KIAA1211

    (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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    2 diseases for KIAA1211:    About MalaCards
    pulmonary function    endotheliitis


    KIAA1211 for disorders           About GeneDecksing

    Genetic Association Database (GAD): KIAA1211
    Human Genome Epidemiology (HuGE) Navigator: KIAA1211 (1 document)

    Export disorders for KIAA1211 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 KIAA1211 gene, integrated from 10 sources (see all 13):
    (articles sorted by number of sources associating them with KIAA1211)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2, 3 Wiemann S.... Poustka A. (Genome Res. 2001)
    2. Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10574462)1, 2, 3 Nagase T.... Ohara O. (DNA Res. 1999)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. Why do cellular proteins linked to K63-polyubiquitin chains not associate with proteasomes? (PubMed id 23314748)1 Nathan J.A....Goldberg A.L. (EMBO J. 2013)
    5. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (Sci. Signal. 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. Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis. (PubMed id 18220336)2 Cantin G.T....Yates J.R. III (J. Proteome Res. 2008)
    9. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (Proc. Natl. Acad. Sci. U.S.A. 2008)
    10. Framingham Heart Study genome-wide association: results for pulmonary function measures. (PubMed id 17903307)4 Wilk J.B....O'Connor G.T. (BMC Med. Genet. 2007)

    (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: 57482 HGNC: 29219 AceView: KIAA1211 Ensembl:ENSG00000109265 euGenes: HUgn57482
    ECgene: KIAA1211 H-InvDB: KIAA1211

    (According to HUGE)
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    HUGE: KIAA1211

    (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 KIAA1211 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 KIAA1211 gene:
    Search GeneIP for patents involving KIAA1211

    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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