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

KIAA1467 Gene

protein-coding   GIFtS: 44
GCID: GC12P013197

KIAA1467

  Search for KIAA1467
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
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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NT_009714.17  NC_018923.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for KIAA1467

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: K1467_HUMAN, A2RU67 (See protein sequence)
Recommended Name: Uncharacterized protein KIAA1467  
Size: 622 amino acids; 67039 Da
Subcellular location: Membrane; Single-pass membrane protein (Potential)
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_A2RU67

  • KIAA1467 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KIAA1467 Protein Expression
    REFSEQ proteins: NP_065904.1  
    ENSEMBL proteins: 
     ENSP00000197268   ENSP00000394063   ENSP00000437974  

    Human Recombinant Protein Products for KIAA1467: 
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral to membrane IEA--

    KIAA1467 for ontologies           About GeneDecksing



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    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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


    KIAA1467 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,
    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

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for KIAA1467 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for KIAA1467

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for KIAA1467 
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    SwitchGear 3'UTR luciferase reporter plasmidKIAA1467 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIAA1467


    (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 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 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 KIAA1467 (K1467)

    Search CenterWatch for drugs/clinical trials and news about 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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 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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    8/42 QIAGEN miScript miRNA 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:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for KIAA1467
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KIAA1467
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    GenScript: all cDNA clones in your preferred vector: KIAA1467 (NM_020853)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for KIAA1467
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KIAA1467
    Sirion Biotech Customized lentivirus for stable overexpression of KIAA1467 
                         Customized lentivirus expression plasmids for stable overexpression of KIAA1467 
    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KIAA1467
      QIAGEN 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 

    24/89 AceView cDNA sequences (see all 89):

    Z41604 BM842164 BU620658 AI359393 AB040900 CD172292 AL832902 Z41975 
    BE351022 AA224007 CB117592 AI082272 BX507958 AI418402 N30737 W33011 
    AA923079 W35398 BU601864 CB216538 BX106307 BQ015753 BC039267 AA883245 

    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™, 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

    KIAA1467 expression in normal human tissues (normalized intensities)      KIAA1467 embryonic expression: see
    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 
     5/1 selected tissues (see all 1) fully expand
     
     Blood (Hematopoietic System)
             Proerythroblasts Hematopoietic Bone Marrow

    See KIAA1467 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KIAA1467

    SOURCE GeneReport for Unigene cluster: Hs.132660
        SABiosciences 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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for KIAA1467 gene from 5/12 species (see all 12)    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 66.4(n)
    63.93(a)
      417963  NM_001012812.1  NP_001012830.1 
    lizard
    (Anolis carolinensis)
    Reptilia KIAA14676
    KIAA1467
    64(a)
    1 ↔ 1
    GL343397.1(865341-901460)
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:774151 zgc:77415 47.41(n)
    37.26(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)
    About This Section
    Paralogs for KIAA1467 gene
    ENSG000002698812  ITFG32  
    1 SIMAP similar gene for KIAA1467 using alignment to 1 protein entry:     K1467_HUMAN:
    DKFZp762C0813

    KIAA1467 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

    10/831 SNPs in KIAA1467 are shown (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

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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

    KIAA1467 for disorders           About MalaCards

    KIAA1467 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for KIAA1467 gene, integrated from 9 sources (see all 12):
    (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. (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. (2010)
    3. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    4. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)
    5. 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. (2009)
    6. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
    7. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
    8. 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. (2007)
    9. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    10. 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)

    (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: 57613 HGNC: 29288 AceView: KIAA1467 Ensembl:ENSG00000084444 euGenes: HUgn57613
    ECgene: KIAA1467 H-InvDB: KIAA1467

    (According to HUGE)
    About This Section
    HUGE: KIAA1467

    (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 KIAA1467 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 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



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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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