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KIAA1467 Gene

protein-coding   GIFtS: 46
GCID: GC12P013197

KIAA1467

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(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
KIAA14671 2
Uncharacterized Protein KIAA14672

External Ids:    HGNC: 292881   Entrez Gene: 576132   Ensembl: ENSG000000844447   UniProtKB: A2RU673   

Export aliases for KIAA1467 gene to outside databases

Previous GC identifers: GC12P012945 GC12U900001 GC12P013065 GC12P013046 GC12P013089 GC12P012967


(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 KIAA1467 Gene:
KIAA1467 (KIAA1467) is a protein-coding gene. An important paralog of this gene is ENSG00000269881.


(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 at NCBI GenBank:
NC_000012.11  NT_009714.18  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the KIAA1467 gene promoter:
         RREB-1   Lmo2   FOXD1   Pax-2   Pax-2a   C/EBPalpha   SRY   c-Myb   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKIAA1467 promoter sequence
   Search Chromatin IP Primers for KIAA1467

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KIAA1467


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

Entrez Gene cytogenetic band: 12p13.1   Ensembl cytogenetic band:  12p13.1   HGNC cytogenetic band: 12p13.1

KIAA1467 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIAA1467 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P013197:  view genomic region     (about GC identifiers)

Start:
13,197,218 bp from pter      End:
13,295,455 bp from pter
Size:
98,238 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: K1467_HUMAN, A2RU67 (See protein sequence)
Recommended Name: Uncharacterized protein KIAA1467  
Size: 622 amino acids; 67039 Da
Secondary accessions: Q49AF2 Q5CZ81 Q6ZUV7 Q9P261

Explore the universe of human proteins at neXtProt for KIAA1467: NX_A2RU67

Explore proteomics data for KIAA1467 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn237, Asn254, Asn396
  • Modification sites at PhosphoSitePlus

  • See KIAA1467 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_065904.1  
    ENSEMBL proteins: 
     ENSP00000197268   ENSP00000394063   ENSP00000437974  

    KIAA1467 Human Recombinant Protein Products:

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    Browse Proteins at Cloud-Clone Corp.

     
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    antibodies-online proteins for KIAA1467 (2 products) 

     
    antibodies-online peptides for KIAA1467

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    Search eBioscience for ELISAs for KIAA1467 
    antibodies-online kits for KIAA1467 (4 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR027295 Quinonprotein_ADH-like_fam
     IPR011047 Quinonprotein_ADH-like_supfam

    Graphical View of Domain Structure for InterPro Entry A2RU67

    ProtoNet protein and cluster: A2RU67

    UniProtKB/Swiss-Prot: K1467_HUMAN, A2RU67
    Similarity: Belongs to the ITFG3 family


    Find genes that share domains with KIAA1467           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for KIAA1467

    miRNA
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    Block miRNA regulation of human, mouse, rat KIAA1467 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate KIAA1467 (see all 42):
    hsa-miR-194* hsa-miR-520f hsa-let-7d hsa-miR-4314 hsa-let-7g hsa-let-7a hsa-miR-3613-3p hsa-miR-378
    SwitchGear 3'UTR luciferase reporter plasmidKIAA1467 3' UTR sequence
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    Predesigned siRNA for gene silencing in human, mouse, rat KIAA1467

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    GenScript: all cDNA clones in your preferred vector: KIAA1467 (NM_020853)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for KIAA1467
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KIAA1467

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIAA1467


    (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 UniProtKB/Swiss-Prot
    K1467_HUMAN, A2RU67: Membrane; Single-pass membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane3
    endoplasmic reticulum1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with KIAA1467           About GenesLikeMe


    (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 KIAA1467
    Interactions:

        Search GeneGlobe Interaction Network for KIAA1467

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for KIAA1467 (ENSP000001972684) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    (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 KIAA1467 (K1467)



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for KIAA1467 gene: 
    NM_020853.1  

    Unigene Cluster for KIAA1467:

    KIAA1467
    Hs.132660  [show with all ESTs]
    Unigene Representative Sequence: CR936647
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000197268(uc001rbi.3 uc021qvn.1) ENST00000416494 ENST00000537625
    ENST00000535974 ENST00000541950 ENST00000540455
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate KIAA1467 (see all 42):
    hsa-miR-194* hsa-miR-520f hsa-let-7d hsa-miR-4314 hsa-let-7g hsa-let-7a hsa-miR-3613-3p hsa-miR-378
    SwitchGear 3'UTR luciferase reporter plasmidKIAA1467 3' UTR sequence
    Inhib. RNA
    Products:
         
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    Predesigned siRNA for gene silencing in human, mouse, rat KIAA1467
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KIAA1467
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat KIAA1467
      QuantiTect SYBR Green Assays in human, mouse, rat KIAA1467
      QuantiFast Probe-based Assays in human, mouse, rat KIAA1467

    Additional mRNA sequence: 

    AB040900.1 AK125278.1 AK294732.1 AL832902.1 BC030126.2 BC039267.1 BC132772.1 BC132774.1 
    CR936647.1 

    5 DOTS entries:

    DT.214051  DT.91968033  DT.100745754  DT.91705446  DT.91729739 

    Selected AceView cDNA sequences (see all 89):

    Z41604 BX507958 CB117592 BE351022 AL832902 CD172292 AI359393 BU620658 
    AI082272 AI418402 AA224007 BM842164 Z41975 AB040900 BG740910 W33011 
    BU632384 CB216538 BX106307 BF110539 Z44628 BC039267 BU655772 AI202704 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for KIAA1467    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c · 8d ^ 9 ^ 10 ^ 11 ^ 12 ^ 13
    SP1:                          -     -                 -                                                               
    SP2:                                                  -                                                               
    SP3:                                                  -                                                               
    SP4:                                                                                                                  


    ECgene alternative splicing isoforms for KIAA1467

    (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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    KIAA1467 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTCCTTTCTT
    KIAA1467 Expression
    About this image


    KIAA1467 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
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
    KIAA1467 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KIAA1467 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.132660
        Custom PCR Arrays for KIAA1467
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIAA1467

    (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 eukaryotes.

    Orthologs for KIAA1467 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 8430419L09Rik1 , 5 RIKEN cDNA 8430419L09 gene1, 5 85.32(n)1
    87.46(a)1
      6 (66.02 cM)5
    745251  NM_028982.41  NP_083258.21 
     1351979775 
    chicken
    (Gallus gallus)
    Aves KIAA14671 KIAA1467 66.61(n)
    64.67(a)
      417963  NM_001012812.1  NP_001012830.1 
    lizard
    (Anolis carolinensis)
    Reptilia KIAA14676
    KIAA1467
    64(a)
    1 ↔ 1
    GL343397.1(865341-901460)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia kiaa14671 KIAA1467 ortholog 55.32(n)
    49.43(a)
      100490921  XM_002932164.2  XP_002932210.2 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:774151 zgc:77415 47.81(n)
    38.12(a)
      324587  NM_207053.1  NP_996936.1 
    corn
    (Zea mays)
    Liliopsida Zm.68402 Zea mays clone cho1c.pk003.k1, mRNA sequence 73.72(n)    AY106241.1 


    ENSEMBL Gene Tree for KIAA1467 (if available)
    TreeFam Gene Tree for KIAA1467 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KIAA1467 gene
    ENSG000002698812  ITFG32  
    1 SIMAP similar gene for KIAA1467 using alignment to 1 protein entry:     K1467_HUMAN:
    DKFZp762C0813

    Find genes that share paralogs with KIAA1467           About GenesLikeMe



    (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 KIAA1467 (see all 831)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs785139241,2
    C--13195321(+) TTTTTC/TTCAGT 1 -- us2k10--------
    rs1393990401,2
    --13195365(+) AACTGA/GTATCA 1 -- us2k10--------
    rs47639191,2
    C,F,A,H--13195434(+) TAGATG/ATAAAA 1 -- us2k1 tfbs38Minor allele frequency- A:0.33WA NA CSA EA 369
    rs64885811,2
    C,F,A,H--13195460(+) TGCCTC/TCAGAG 1 -- us2k124Minor allele frequency- T:0.33NS EA NA WA CSA 2483
    rs1891561261,2
    C--13195472(+) AGTGGC/GAAGCA 1 -- us2k10--------
    rs1156921331,2
    C,F--13195538(+) TAAACC/AATTAA 1 -- us2k11Minor allele frequency- A:0.02WA 118
    rs124253941,2
    H--13195646(+) CactaA/Cgtgcc 1 -- us2k10--------
    rs1499931731,2
    --13195821(+) GATCTC/TGGGAG 1 -- us2k10--------
    rs1451635581,2
    C--13195899(+) AAAGGA/CGGTGA 1 -- us2k10--------
    rs1424600821,2
    --13196159(+) ACTTGC/TGTGTG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for KIAA1467 (13197218 - 13295455 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for KIAA1467:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2745572CNV Deletion23290073
    esv2338710CNV Deletion18987734
    esv2745571CNV Deletion23290073
    esv2745567CNV Deletion23290073
    esv267848CNV Insertion20981092
    nsv52858CNV Loss16902084
    nsv832333CNV Gain17160897

    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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    Find genes that share disorders with KIAA1467           About GenesLikeMe

    Genetic Association Database (GAD): KIAA1467
    Human Genome Epidemiology (HuGE) Navigator: KIAA1467 (1 document)

    Export disorders for KIAA1467 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 KIAA1467 gene, integrated from 10 sources (see all 13):
    (articles sorted by number of sources associating them with KIAA1467)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10819331)1, 2, 3 Nagase T.... Ohara O. (DNA Res. 2000)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    3. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    4. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    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 phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)2 Mayya V.... Han D.K. (Sci. Signal. 2009)
    7. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (Proc. Natl. Acad. Sci. U.S.A. 2008)
    8. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (amp 2008)
    9. A genome-wide association for kidney function and endocrine-related traits in the NHLBI's Framingham Heart Study. (PubMed id 17903292)4 Hwang S.J....Fox C.S. (BMC Med. Genet. 2007)
    10. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    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: 57613 HGNC: 29288 AceView: KIAA1467 Ensembl:ENSG00000084444 euGenes: HUgn57613
    ECgene: KIAA1467 H-InvDB: KIAA1467

    (According to HUGE)
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    HUGE: KIAA1467

    (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 KIAA1467 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 KIAA1467 gene:
    Search GeneIP for patents involving KIAA1467

    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, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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