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

KIAA1033 Gene

protein-coding   GIFtS: 50
GCID: GC12P105501

KIAA1033

  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)
About This Section

Aliases
KIAA10331 2
SWIP2
Strumpellin And WASH-Interacting Protein2
WASH Complex Subunit 72

External Ids:    HGNC: 291741   Entrez Gene: 233252   Ensembl: ENSG000001360517   UniProtKB: Q2M3893   

Export aliases for KIAA1033 gene to outside databases

Previous GC identifers: GC12P104635 GC12P105382 GC12P104003 GC12P102561


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

GeneCards Summary for KIAA1033 Gene: 
KIAA1033 (KIAA1033) is a protein-coding gene. Diseases associated with KIAA1033 include penis carcinoma, and phimosis.

UniProtKB/Swiss-Prot: WASH7_HUMAN, Q2M389
Function: Component of the WASH complex, a complex present at the surface of endosomes that recruits and activates
the Arp2/3 complex to induce actin polymerization. The WASH complex plays a key role in the fission of tubules
that serve as transport intermediates during endosome sorting (By similarity)




(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_029419.12  NC_018923.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KIAA1033 gene promoter:
         TBP   SREBP-1c   Pax-2   SREBP-1b   N-Myc   POU2F1   SREBP-1a   TFIID   POU2F1a   Hlf   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for KIAA1033

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KIAA1033


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

Entrez Gene cytogenetic band: 12q24.11   Ensembl cytogenetic band:  12q23.3   HGNC cytogenetic band: 12q24.11

KIAA1033 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIAA1033 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P105501:  view genomic region     (about GC identifiers)

Start:
105,501,102 bp from pter      End:
105,562,912 bp from pter
Size:
61,811 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: WASH7_HUMAN, Q2M389 (See protein sequence)
Recommended Name: WASH complex subunit 7  
Size: 1173 amino acids; 136403 Da
Subunit: Component of the WASH complex, composed of F-actin-capping protein subunit alpha (CAPZA1, CAPZA2 or
CAPZA3), F-actin-capping protein subunit beta (CAPZB), WASH (WASH1, WASH2P, WASH3P, WASH4P, WASH5P or WASH6P),
FAM21 (FAM21A, FAM21B or FAM21C), KIAA1033, KIAA0196 and CCDC53
Sequence caution: Sequence=AAI10851.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence; Sequence=BAA82985.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: Q2NL83 Q8IW61 Q8N5W7 Q9NVD6 Q9UPW7
Alternative splicing: 2 isoforms:  Q2M389-1   Q2M389-2   

Explore the universe of human proteins at neXtProt for KIAA1033: NX_Q2M389

Explore proteomics data for KIAA1033 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q2M389

  • KIAA1033 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KIAA1033 Protein Expression
    REFSEQ proteins: NP_056090.1  
    ENSEMBL proteins: 
     ENSP00000450243   ENSP00000328062   ENSP00000448966   ENSP00000473263   ENSP00000450166  
     ENSP00000447015  

    Human Recombinant Protein Products for KIAA1033: 
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005768endosome IDA--
    GO:0071203WASH complex IDA19922875

    KIAA1033 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
    1 InterPro protein domain:
     IPR027307 WASH7

    Graphical View of Domain Structure for InterPro Entry Q2M389

    ProtoNet protein and cluster: Q2M389

    UniProtKB/Swiss-Prot: WASH7_HUMAN, Q2M389
    Similarity: Belongs to the WASHS7 family


    KIAA1033 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: WASH7_HUMAN, Q2M389
    Function: Component of the WASH complex, a complex present at the surface of endosomes that recruits and activates
    the Arp2/3 complex to induce actin polymerization. The WASH complex plays a key role in the fission of tubules
    that serve as transport intermediates during endosome sorting (By similarity)

    Animal Models:

       inGenious Targeting Laboratory - Custom generated mouse model solutions for KIAA1033 
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    SwitchGear 3'UTR luciferase reporter plasmidKIAA1033 3' UTR sequence
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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:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KIAA1033

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    5/16 Interacting proteins for KIAA1033 (Q2M3892, 3 ENSP000003280624) via UniProtKB, MINT, STRING, and/or I2D (see all 16)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMAD2Q157962, 3MINT-61622 I2D: score=2 
    KIAA0196Q127683, ENSP000003180164I2D: score=1 STRING: ENSP00000318016
    WASH1A8K0Z33I2D: score=1 
    CAPZA1ENSP000002631684STRING: ENSP00000263168
    CCDC53ENSP000002400794STRING: ENSP00000240079
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016197endosomal transport ISS--

    KIAA1033 for ontologies           About GeneDecksing



    (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 KIAA1033 (WASH7)

    Search CenterWatch for drugs/clinical trials and news about KIAA1033 / WASH7

    (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 KIAA1033 gene: 
    NM_015275.1  

    Unigene Cluster for KIAA1033:

    KIAA1033
    Hs.12144  [show with all ESTs]
    Unigene Representative Sequence: NM_015275
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000548195 ENST00000311317 ENST00000332180(uc001tld.3 uc010swr.2)
    ENST00000550053(uc010sws.2) ENST00000547404 ENST00000550613 ENST00000548534
    ENST00000550786 ENST00000552203 ENST00000551224 ENST00000551290 ENST00000547171
    ENST00000550036
    miRNA
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    hsa-miR-3685 hsa-miR-4307 hsa-miR-607 hsa-miR-139-5p hsa-miR-128 hsa-miR-30d hsa-miR-342-3p hsa-miR-30a
    SwitchGear 3'UTR luciferase reporter plasmidKIAA1033 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KIAA1033
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KIAA1033

    Additional mRNA sequence: 

    AB028956.1 AF075010.1 AK001657.1 AK001728.1 AK023146.1 AK026950.1 AK027218.1 AL137753.1 
    BC012556.1 BC031358.1 BC040936.1 BC104992.1 BC104994.1 BC110850.1 BC143373.1 

    12 DOTS entries:

    DT.442971  DT.100812126  DT.40308359  DT.100812125  DT.101976627  DT.121146042  DT.75126103  DT.92428640 
    DT.95228515  DT.95374830  DT.102830542  DT.99932398 

    24/147 AceView cDNA sequences (see all 147):

    AW452253 AA743772 AI922074 R36236 BC040936 AW235618 BQ213419 BC031358 
    AB028956 N67309 BQ434975 AA262741 AI690211 AU133246 AF075010 AI798052 
    AI636353 AL137753 BQ962894 BX348533 NM_015275 AU119891 AI493424 AA831587 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for KIAA1033    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^
    SP1:                                                  -                                                                                                         
    SP2:                                                                                                                                                            

    ExUns: 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33a · 33b
    SP1:                                                      
    SP2:                                                      


    ECgene alternative splicing isoforms for KIAA1033

    (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

    KIAA1033 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGACTCCCT
    KIAA1033 Expression
    About this image


    See KIAA1033 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KIAA1033

    SOURCE GeneReport for Unigene cluster: Hs.12144
        SABiosciences Custom PCR Arrays for KIAA1033
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    In Situ
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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 KIAA1033 gene from 8/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia A230046K03Rik1 , 5 RIKEN cDNA A230046K03 gene1, 5 90.54(n)1
    96.76(a)1
      10 (41.29 cM)5
    3192771  NM_001033375.21  NP_001028547.21 
     835439415 
    chicken
    (Gallus gallus)
    Aves KIAA10331 KIAA1033 82.39(n)
    91.98(a)
      418077  XM_003640418.1  XP_003640466.1 
    lizard
    (Anolis carolinensis)
    Reptilia KIAA10336
    Uncharacterized protein
    90(a)
    1 ↔ 1
    5(18750394-18793310)
    African clawed frog
    (Xenopus laevis)
    Amphibia CA986554.12   -- 83.89(n)    CA986554.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5657521 WASH complex subunit 7-like 73.4(n)
    84.74(a)
      565752  XM_689025.4  XP_694117.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG139571 , 3 CG139571 28(a)3
    43.27(n)1
    31.1(a)1
      14B123
    325941  NM_132888.11  NP_573116.11 
    worm
    (Caenorhabditis elegans)
    Secernentea Y53F4B.213
    CELE_Y53F4B.211
    Protein Y53F4B.211 20(a)3
    41.08(n)1
    24.13(a)1
      II(15085832-15100329)3
    1902191  NM_064705.31  NP_497106.31 
    rice
    (Oryza sativa)
    Liliopsida Os06g01367001 hypothetical protein 42.99(n)
    24.24(a)
      4340043  NM_001063263.1  NP_001056728.1 


    ENSEMBL Gene Tree for KIAA1033 (if available)
    TreeFam Gene Tree for KIAA1033 (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

    10/1400 SNPs in KIAA1033 are shown (see all 1400)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs615094161,2
    C--105341336(+) ATCCC-/CTGTTAG 1 -- us2k10--------
    rs721588911,2
    C--105389566(+) GAGGG-/GTGCAAG 1 -- int10--------
    rs93083191,2
    C--105389567(+) agggg-/GT/TG 
            
    caaga
    1 -- int10--------
    rs11968431,2
    C,F,A--105499500(-) ACAGAG/ACAAGA 1 -- us2k13Minor allele frequency- A:0.50NA 6
    rs1123020521,2
    C,F--105499616(+) TAGTAG/AGGACA 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs749713381,2
    C--105499757(+) GAGATC/ATTTTT 1 -- us2k14Minor allele frequency- A:0.13NA WA EA 360
    rs1827358431,2
    --105499836(+) TTATAC/TGTATT 1 -- us2k10--------
    rs1858031321,2
    --105500103(+) GACTTA/GTAAGT 1 -- us2k10--------
    rs1996007821,2
    C--105500103(+) GACTT-/G/TA  
            
    TAAGT
    1 -- us2k10--------
    rs11968421,2
    C,F,H--105500390(-) CCCTGG/AGTTAA 1 -- us2k126Minor allele frequency- A:0.08NS EA NA WA CSA 2266

    HapMap Linkage Disequilibrium report for KIAA1033 (105501102 - 105562912 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for KIAA1033:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv832506CNV Gain17160897
    nsv899495CNV Gain21882294


    Human Gene Mutation Database (HGMD): KIAA1033
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing KIAA1033
    DNA2.0 Custom Variant and Variant Library Synthesis for KIAA1033

    (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
    4 diseases for KIAA1033:    About MalaCards
    penis carcinoma    phimosis    ulcerative colitis    intellectual disability

    2 diseases from the University of Copenhagen DISEASES database for KIAA1033:
    Phimosis     Penis carcinoma

    KIAA1033 for disorders           About GeneDecksing

    Genetic Association Database (GAD): KIAA1033

    Export disorders for KIAA1033 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 KIAA1033 gene, integrated from 9 sources (see all 19):
    (articles sorted by number of sources associating them with KIAA1033)
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    1. The Arp2/3 activator WASH controls the fission of endosomes through a large multiprotein complex. (PubMed id 19922875)1, 2 Derivery E.... Gautreau A. (2009)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10470851)1, 2 Kikuno R....Ohara O. (1999)
    5. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    6. A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (2012)
    7. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    8. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    9. 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)
    10. Identification of a novel candidate gene for non-synd romic autosomal recessive intellectual disability: the WASH complex member SWIP . (PubMed id 21498477)1 Ropers F....Rajab A. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 23325 HGNC: 29174 AceView: KIAA1033 Ensembl:ENSG00000136051 euGenes: HUgn23325
    ECgene: KIAA1033 H-InvDB: KIAA1033

    (According to HUGE)
    About This Section
    HUGE: KIAA1033

    (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 KIAA1033 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 KIAA1033 gene:
    Search GeneIP for patents involving KIAA1033

    GeneCards and IP:
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