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

KLHL32 Gene

protein-coding   GIFtS: 46
GCID: GC06P097372

Kelch-Like Family Member 32

(Previous names: BTB and kelch domain containing 5, KIAA1900, kelch-like...)
(Previous symbols: BKLHD5, KIAA1900)
  Search for KLHL32
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
Kelch-Like Family Member 321 2     Kelch-Like 32 (Drosophila)1
BKLHD51 2 3     UG0030H052
KIAA19001 2 3     dJ21F7.12
BTB And Kelch Domain Containing 51 2     Kelch-Like 322
BTB And Kelch Domain-Containing Protein 52 3     Kelch-Like Protein 322

External Ids:    HGNC: 212211   Entrez Gene: 1147922   Ensembl: ENSG000001862317   UniProtKB: Q96NJ53   

Export aliases for KLHL32 gene to outside databases

Previous GC identifers: GC06P097480 GC06P094806


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

GeneCards Summary for KLHL32 Gene: 
KLHL32 (kelch-like family member 32) is a protein-coding gene. An important paralog of this gene is KLHL42.


(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_000006.11  NT_025741.15  NC_018917.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KLHL32 gene promoter:
         POU3F2 (N-Oct-5b)   POU3F2 (N-Oct-5a)   POU3F2   E47   AREB6   POU2F1   POU2F1a   POU2F1b   POU2F1c   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKLHL32 promoter sequence
   Search SABiosciences Chromatin IP Primers for KLHL32

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KLHL32


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

Entrez Gene cytogenetic band: 6q16.1   Ensembl cytogenetic band:  6q16.1   HGNC cytogenetic band: 6q16.3

KLHL32 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KLHL32 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P097372:  view genomic region     (about GC identifiers)

Start:
97,372,496 bp from pter      End:
97,588,630 bp from pter
Size:
216,135 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: KLH32_HUMAN, Q96NJ5 (See protein sequence)
Recommended Name: Kelch-like protein 32  
Size: 620 amino acids; 70362 Da
Secondary accessions: E1P528 Q5THT0 Q96PY7

Explore the universe of human proteins at neXtProt for KLHL32: NX_Q96NJ5

Explore proteomics data for KLHL32 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96NJ5

  • KLHL32 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KLHL32 Protein Expression
    REFSEQ proteins: NP_443136.2  
    ENSEMBL proteins: 
     ENSP00000358265   ENSP00000358258   ENSP00000389310   ENSP00000440382   ENSP00000441527  
     ENSP00000445453  

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    Cloud-Clone Corp. Proteins for KLHL32 


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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    BTBD: BTB/POZ domain containing
    KLHL: Kelch-like

    5/7 InterPro protein domains (see all 7):
     IPR006652 Kelch_1
     IPR011333 BTB/POZ_fold
     IPR017096 Kelch-like_gigaxonin
     IPR013069 BTB_POZ
     IPR011705 BACK

    Graphical View of Domain Structure for InterPro Entry Q96NJ5

    ProtoNet protein and cluster: Q96NJ5

    2 Blocks protein domains:
    IPB000210 BTB/POZ domain
    IPB011705 BTB/Kelch-associated


    UniProtKB/Swiss-Prot: KLH32_HUMAN, Q96NJ5
    Similarity: Contains 1 BTB (POZ) domain
    Similarity: Contains 6 Kelch repeats


    KLHL32 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

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    KLHL32 for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for KLHL32:
     Increased HPV18 LCR reporter a  Increased S DNA content  Increased gamma-H2AX phosphory  S arrest 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for KLHL32 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for KLHL32 
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    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidKLHL32 3' UTR sequence
    Inhib. RNA
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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 KLHL32

    (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 KLHL32 (KLH32)

    Search CenterWatch for drugs/clinical trials and news about KLHL32 / KLH32

    (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 KLHL32 gene: 
    NM_052904.3  

    Unigene Cluster for KLHL32:

    Kelch-like family member 32
    Hs.45056  [show with all ESTs]
    Unigene Representative Sequence: NM_052904
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000369261(uc003poy.3 uc010kcm.1 uc003poz.2 uc011ead.1 uc011eae.1 uc003ppa.2)
    ENST00000369254 ENST00000447886 ENST00000536676 ENST00000539200 ENST00000544166

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat KLHL32
    8/11 QIAGEN miScript miRNA Assays for microRNAs that regulate KLHL32 (see all 11):
    hsa-miR-3163 hsa-miR-607 hsa-miR-1206 hsa-miR-586 hsa-miR-513a-3p hsa-miR-485-3p hsa-miR-4282 hsa-miR-489
    SwitchGear 3'UTR luciferase reporter plasmidKLHL32 3' UTR sequence
    Inhib. RNA
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    Clone
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    Additional mRNA sequence: 

    AB067487.1 AF351610.1 AK055292.1 AK295479.1 AK297240.1 BC047491.1 BC071627.1 

    4 DOTS entries:

    DT.91916547  DT.91868299  DT.101968250  DT.92041737 

    24 AceView cDNA sequences:

    AB067487 BC031830 BI669996 BU854426 NM_052904 T10232 BG181952 AF351610 
    AK055292 BX103232 BI917115 BC047491 N40195 BX645412 BG202967 BX493379 
    BC071627 BI916261 BF352946 BI919226 BI601157 BG256423 BI915330 T10233 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for KLHL32 (see all 6)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c · 9d ^ 10 ^ 11 ^ 12 ^ 13a · 13b
    SP1:                                -                 -                       -                                 
    SP2:                                                  -     -     -     -     -                                 
    SP3:                                -           -     -     -     -     -     -                                 
    SP4:                                -                 -                                                         
    SP5:                                                                                                            


    ECgene alternative splicing isoforms for KLHL32

    (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

    KLHL32 expression in normal human tissues (normalized intensities)      KLHL32 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAACCTTTTT
    KLHL32 Expression
    About this image


    KLHL32 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Gonad
             Primordial Germ Cells Allantois
     
     Placenta (Extraembryonic Tissues)
             Primordial Germ Cells Allantois
     
     Eye (Sensory Organs)
             Mature Horizontal Cells Inner Nuclear Layer
     
     Brain (Nervous System)

    See KLHL32 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KLHL32

    SOURCE GeneReport for Unigene cluster: Hs.45056
        SABiosciences Custom PCR Arrays for KLHL32
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KLHL32

    (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 chordates.

    Orthologs for KLHL32 gene from 5/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Klhl321 , 5 kelch-like 32 (Drosophila)1, 5 91.34(n)1
    98.06(a)1
      4 (10.42 cM)5
    2123901  NM_001163020.11  NP_001156492.11 
     246125545 
    chicken
    (Gallus gallus)
    Aves KLHL321 kelch-like 32 (Drosophila) 82.9(n)
    94.19(a)
      421801  XM_419827.3  XP_419827.2 
    lizard
    (Anolis carolinensis)
    Reptilia KLHL326
    Uncharacterized protein
    91(a)
    1 ↔ 1
    1(173464719-173535347)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.146022 Transcribed sequence with weak similarity to protein more 78.57(n)    BX701680.1 
    zebrafish
    (Danio rerio)
    Actinopterygii klhl321 kelch-like 32 (Drosophila) 72.31(n)
    80(a)
      100009653  NM_001083022.1  NP_001076491.1 


    ENSEMBL Gene Tree for KLHL32 (if available)
    TreeFam Gene Tree for KLHL32 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KLHL32 gene
    KLHL422  KLHL132  KLHL222  KLHL262  KLHL342  KLHL312  KBTBD132  KBTBD112  
    KLHL92  KLHL142  KLHL152  KLHDC7B2  KLHL362  KLHL332  KLHDC7A2  
    18/68 SIMAP similar genes for KLHL32 using alignment to 6 protein entries:     KLH32_HUMAN (see all proteins) (see all similar genes):
    KIAA1900    ZBTB7C    BACH2    ZBTB17    ZNF295    ZBTB4
    ZBTB3    KLHL2    ZBTB14    KLHL1    KLHL7    ZBTB44
    KLHL17    ZBTB25    ZBTB38    ZBTB47    ZBTB8B    KLHL22

    KLHL32 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

    10/4287 SNPs in KLHL32 are shown (see all 4287)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1862747121,2
    --97370528(+) AATAAC/TAAGTA 1 -- us2k10--------
    rs8505841,2
    C,F,A--97370544(-) AAGCTA/GTTTTT 1 -- us2k111Minor allele frequency- G:0.44NA WA CSA EA 373
    rs1422269061,2
    --97370616(+) TAAGAA/GAGAAA 1 -- us2k10--------
    rs1910670791,2
    --97370656(+) GAGTGC/GAGTAA 1 -- us2k10--------
    rs1512153791,2
    C--97370670(+) GCAACA/GTATGT 1 -- us2k10--------
    rs1820514361,2
    --97370845(+) TCAACA/GCCATG 1 -- us2k10--------
    rs1862096301,2
    --97370886(+) CTATGC/TGGCAG 1 -- us2k10--------
    rs737580591,2
    C,F--97371018(+) ATAGTC/ATTTGC 1 -- us2k12Minor allele frequency- A:0.07WA 120
    rs1403031371,2
    --97371055(+) CTGCTA/TTTTAT 1 -- us2k10--------
    rs1906940461,2
    --97371091(+) AGATGA/GGCTTA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for KLHL32 (97372496 - 97588630 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/15 variations for KLHL32 (see all 15):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2661411CNV Deletion23128226
    esv2676410CNV Deletion23128226
    nsv436524CNV Deletion17901297
    esv2732464CNV Deletion23290073
    esv2732463CNV Deletion23290073
    esv2370829CNV Deletion18987734
    esv2396648CNV Deletion18987734
    esv2656950CNV Deletion23128226
    esv2604268CNV Deletion19546169
    esv1215963CNV Insertion17803354

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for KLHL32

    (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

    KLHL32 for disorders           About MalaCards
    1 disease from the University of Copenhagen DISEASES database for KLHL32:
    Gilles de la Tourette syndrome

    KLHL32 for disorders           About GeneDecksing


    Export disorders for KLHL32 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 KLHL32 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with KLHL32)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    2. Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins. (PubMed id 11572484)1, 2 Nagase T....Ohara O. (2001)
    3. A meta-analysis identifies new loci associated with bo dy mass index in individuals of African ancestry. (PubMed id 23583978)1 Monda K.L....Haiman C.A. (2013)
    4. Identification of human protein interaction domains us ing an ORFeome-based yeast two-hybrid fragment library. (PubMed id 23718855)1 Waaijers S....Boxem M. (2013)
    5. Quantitative analysis of HSP90-client interactions rev eals principles of substrate recognition. (PubMed id 22939624)1 Taipale M....Lindquist S. (2012)
    6. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    7. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    8. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)2 Mungall A.J.... Beck S. (2003)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    (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: 114792 HGNC: 21221 AceView: KIAA1900 Ensembl:ENSG00000186231 euGenes: HUgn114792
    ECgene: KLHL32 H-InvDB: KLHL32

    (According to HUGE)
    About This Section
    HUGE: KIAA1900

    (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 KLHL32 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 KLHL32 gene:
    Search GeneIP for patents involving KLHL32

    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: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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