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

KIAA1432 Gene

protein-coding   GIFtS: 42
GCID: GC09P005629

KIAA1432

  Search for KIAA1432
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
KIAA14321 2
Connexin-43-Interacting Protein Of 150 KDa2 3
CIP1502 3
bA207C16.12
Connexin 43-Interacting Protein 150 KDa2
Protein RIC1 Homolog2

External Ids:    HGNC: 176861   Entrez Gene: 575892   Ensembl: ENSG000001070367   OMIM: 6103545   UniProtKB: Q4ADV73   

Export aliases for KIAA1432 gene to outside databases

Previous GC identifers: GC09P005783 GC09P005610 GC09P005619 GC09P005577


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

GeneCards Summary for KIAA1432 Gene: 
KIAA1432 (KIAA1432) is a protein-coding gene.

UniProtKB/Swiss-Prot: RIC1_HUMAN, Q4ADV7
Function: Required for phosphorylation and localization of GJA1




(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_000009.11  NT_008413.18  NC_018920.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KIAA1432 gene promoter:
         AP-4   AP-2gamma   Tal-1beta   AP-2beta   ITF-2   AP-2alpha   Pax-4a   AP-2alphaA   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for KIAA1432

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KIAA1432


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

Entrez Gene cytogenetic band: 9p24.1   Ensembl cytogenetic band:  9p24.1   HGNC cytogenetic band: 9p24.1

KIAA1432 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIAA1432 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P005629:  view genomic region     (about GC identifiers)

Start:
5,629,025 bp from pter      End:
5,776,557 bp from pter
Size:
147,533 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: RIC1_HUMAN, Q4ADV7 (See protein sequence)
Recommended Name: Protein RIC1 homolog  
Size: 1423 amino acids; 159301 Da
Subunit: Interacts with GJA1
Subcellular location: Membrane; Single-pass membrane protein (Potential)
Sequence caution: Sequence=AAI36617.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAI44297.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB14150.1;
Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAE16982.1; Type=Erroneous
initiation; Note=Translation N-terminally extended; Sequence=CAB66809.1; Type=Erroneous initiation;
Note=Translation N-terminally extended; Sequence=CAI95003.1; Type=Erroneous gene model prediction;
Sequence=CAI95004.1; Type=Erroneous gene model prediction;
Secondary accessions: B2RN24 B7ZM67 G5E932 Q4VXJ8 Q4VXJ9 Q76MT5 Q8N6E0 Q8TEH4 Q9H0A5 Q9H9S1
Alternative splicing: 3 isoforms:  Q4ADV7-1   Q4ADV7-2   Q4ADV7-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for KIAA1432: NX_Q4ADV7

Explore proteomics data for KIAA1432 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q4ADV7

  • KIAA1432 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KIAA1432 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001129392.2  NP_001193486.1  NP_065880.2  

    ENSEMBL proteins: 
     ENSP00000251879   ENSP00000416696   ENSP00000439488   ENSP00000442632   ENSP00000438005  
     ENSP00000402240   ENSP00000398823   ENSP00000370943  

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    Browse Sino Biological Recombinant Proteins
    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--

    KIAA1432 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR009771 Ribosome_control_1
     IPR017986 WD40_repeat_dom
     IPR015943 WD40/YVTN_repeat-like_dom

    Graphical View of Domain Structure for InterPro Entry Q4ADV7

    ProtoNet protein and cluster: Q4ADV7

    UniProtKB/Swiss-Prot: RIC1_HUMAN, Q4ADV7
    Similarity: Belongs to the RIC1 family
    Similarity: Contains 2 WD repeats


    KIAA1432 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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RIC1_HUMAN, Q4ADV7
    Function: Required for phosphorylation and localization of GJA1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    KIAA1432 for ontologies           About GeneDecksing


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 1 allele(MGI details for C030046E11Rik):
     behavior/neurological  hematopoietic system  homeostasis/metabolism  immune system  other 
     skeleton 

    KIAA1432 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for KIAA1432 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for KIAA1432 
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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:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for KIAA1432

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

    4 Interacting proteins for KIAA1432 (Q4ADV73 ENSP000004022404) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DCLK1O150753I2D: score=3 
    RPL21P467783I2D: score=3 
    RPS27AP629793I2D: score=3 
    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 KIAA1432 (RIC1)

    Search CenterWatch for drugs/clinical trials and news about KIAA1432 / RIC1

    (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 KIAA1432 gene (3 alternative transcripts): 
    NM_001135920.2  NM_001206557.1  NM_020829.3  

    Unigene Cluster for KIAA1432:

    KIAA1432
    Hs.211520  [show with all ESTs]
    Unigene Representative Sequence: NM_020829
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000251879(uc003zjh.3) ENST00000414202(uc003zji.3 uc003zjl.4)
    ENST00000545641 ENST00000276898(uc003zjj.1) ENST00000545243 ENST00000490816
    ENST00000418622 ENST00000449720 ENST00000381532
    miRNA
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    hsa-miR-548j hsa-miR-607 hsa-miR-429 hsa-miR-15a hsa-miR-29a hsa-miR-25 hsa-miR-374a hsa-miR-138-2*
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    Additional mRNA sequence: 

    AB037853.2 AB205401.1 AK022642.1 AK074150.1 AK124394.1 AL136875.1 BC023535.2 BC030576.1 
    BC041044.1 BC136616.1 BC144296.1 

    10 DOTS entries:

    DT.314576  DT.95149177  DT.86846937  DT.100781802  DT.86852249  DT.101971733  DT.95157248  DT.91912214 
    DT.40299465  DT.75154682 

    24/112 AceView cDNA sequences (see all 112):

    CF265040 AW966938 AK074150 CK429853 AL138104 BX097642 AW445127 AA250979 
    AA630125 C03605 BU623083 BE048232 AK124394 AL136875 BQ008932 AA250978 
    T08140 CB152016 AK022642 BM467828 AI016962 AU125152 AA432319 BF198075 

    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

    KIAA1432 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGCCCAGCA
    KIAA1432 Expression
    About this image


    See KIAA1432 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KIAA1432

    SOURCE GeneReport for Unigene cluster: Hs.211520

    UniProtKB/Swiss-Prot: RIC1_HUMAN, Q4ADV7
    Tissue specificity: Present in kidney and various cell lines (at protein level). Widely expressed at low level

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    In Situ
    Assay Products:
     

     
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    (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 KIAA1432 gene from 8/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia C030046E11Rik1 , 5 RIKEN cDNA C030046E11 gene1, 5 88.96(n)1
    92.97(a)1
      19 (24.07 cM)5
    2260891  NM_001081319.11  NP_001074788.11 
     295222825 
    chicken
    (Gallus gallus)
    Aves KIAA14321 KIAA1432 79.55(n)
    83.99(a)
      427226  XM_003643000.1  XP_003643048.1 
    lizard
    (Anolis carolinensis)
    Reptilia KIAA14326
    KIAA1432
    82(a)
    1 ↔ 1
    2(52371551-52429436)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.238242 Xenopus laevis transcribed sequence with weak similarity more 75.5(n)    48023888 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003309801 protein RIC1 homolog 68.14(n)
    74.87(a)
      100330980  XM_002665833.3  XP_002665879.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta BcDNA:GH036943
    Rich1
    RIC1 homolog1 40(a)3
    48.75(n)1
    39.49(a)1
      79D33
    404561  NM_141128.21  NP_649385.11 
    worm
    (Caenorhabditis elegans)
    Secernentea R06F6.8b3
    R06F6.81
    Protein R06F6.81 28(a)
    (best of 2)3
    44.04(n)1
    31.8(a)1
      II(10813157-10823988)3
    1746641  NM_063927.31  NP_496328.21 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G614801 Quinoprotein amine dehydrogenase, beta chain-like; more 43.14(n)
    31.48(a)
      825321  NM_116013.3  NP_191707.3 


    ENSEMBL Gene Tree for KIAA1432 (if available)
    TreeFam Gene Tree for KIAA1432 (if available)

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

    (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

    10/3891 SNPs in KIAA1432 are shown (see all 3891)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1824856241,2
    --5627124(+) TTGAGG/TGCAAT 3 -- us2k10--------
    rs1871808701,2
    --5627162(+) GCCCAA/TGAGCA 3 -- us2k10--------
    rs1417384961,2
    --5627259(+) GCTGCA/CCTAGA 3 -- us2k10--------
    rs1470998251,2
    --5627335(+) TGTTAC/TTCTAC 3 -- us2k10--------
    rs1385246811,2
    --5627422(+) CTCCAC/TGGTTT 3 -- us2k10--------
    rs169232861,2
    C,F,H--5627446(+) TGCCAG/ACTTAC 3 -- us2k114Minor allele frequency- A:0.16NA EA NS WA 676
    rs344006311,2
    C,F--5627487(+) GGACTG/TGGGGA 3 -- us2k16Minor allele frequency- T:0.22NA WA 246
    rs1441331091,2
    --5627498(+) GGGTAA/GACGCC 3 -- us2k10--------
    rs1505003701,2
    --5627521(+) TGATCG/TCAACA 3 -- us2k10--------
    rs1906881901,2
    --5627634(+) GTTACA/GTATTT 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for KIAA1432 (5629025 - 5776557 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/14 variations for KIAA1432 (see all 14):    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv1320e199CNV Deletion23128226
    esv2158152CNV Deletion18987734
    esv2543160CNV Deletion19546169
    esv995651CNV Deletion20482838
    esv2738163CNV Deletion23290073
    esv2666049CNV Deletion23128226
    esv24276CNV Loss19812545
    nsv892154CNV Loss21882294
    esv23270CNV Loss19812545
    nsv6462CNV Loss18451855


    Human Gene Mutation Database (HGMD): KIAA1432
    SABiosciences Cancer Mutation 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.)
    About This Section

    KIAA1432 for disorders           About MalaCards
    OMIM gene information: 610354    OMIM disorders: --


    KIAA1432 for disorders           About GeneDecksing

    Genetic Association Database (GAD): KIAA1432

    Export disorders for KIAA1432 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 KIAA1432 gene, integrated from 9 sources (see all 15):
    (articles sorted by number of sources associating them with KIAA1432)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10718198)1, 2, 3 Nagase T.... Ohara O. (2000)
    2. Molecular cloning and functional analysis of a novel Cx43 partner protein CIP150. (PubMed id 16112082)1, 2, 9 Akiyama M.... Takeya T. (2005)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2 Wiemann S.... Poustka A. (2001)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 57589 HGNC: 17686 AceView: KIAA1432 Ensembl:ENSG00000107036 euGenes: HUgn57589
    ECgene: KIAA1432 H-InvDB: KIAA1432

    (According to HUGE)
    About This Section
    HUGE: KIAA1432

    (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 KIAA1432 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 KIAA1432 gene:
    Search GeneIP for patents involving KIAA1432

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

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