Aliases for KLHL32 Gene

Aliases for KLHL32 Gene

  • Kelch Like Family Member 32 2 3 5
  • KIAA1900 2 3 4
  • BTB And Kelch Domain Containing 5 2 3
  • Kelch-Like Protein 32 3 4
  • BKLHD5 3 4
  • BTB And Kelch Domain-Containing Protein 5 4
  • Kelch-Like 32 (Drosophila) 2
  • UG0030H05 3
  • DJ21F7.1 3

External Ids for KLHL32 Gene

Previous HGNC Symbols for KLHL32 Gene

  • BKLHD5
  • KIAA1900

Previous GeneCards Identifiers for KLHL32 Gene

  • GC06P097480
  • GC06P097372
  • GC06P094806

Summaries for KLHL32 Gene

GeneCards Summary for KLHL32 Gene

KLHL32 (Kelch Like Family Member 32) is a Protein Coding gene. Diseases associated with KLHL32 include Tic Disorder and Mitochondrial Complex I Deficiency, Nuclear Type 1. An important paralog of this gene is KLHL13.

Additional gene information for KLHL32 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KLHL32 Gene

Genomics for KLHL32 Gene

GeneHancer (GH) Regulatory Elements for KLHL32 Gene

Promoters and enhancers for KLHL32 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J096896 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.7 -0.2 -212 3.2 ZNF217 CTCF TCF12 NRF1 MYC USF1 POLR2G SP1 PHF8 ZFX NDUFAF4 KLHL32 lnc-GPR63-6 GPR63 lnc-KLHL32-6
GH06J097064 Promoter/Enhancer 0.7 EPDnew Ensembl 500.1 +166.9 166888 0.6 TEAD4 JUN JUND KLHL32 NDUFAF4 piR-35729-055 lnc-NDUFAF4-3
GH06J097010 Promoter/Enhancer 0.5 EPDnew dbSUPER 500.1 +112.2 112168 0.1 KLHL32 piR-35729-055 piR-48553-275
GH06J096923 Promoter/Enhancer 1.9 Ensembl ENCODE CraniofacialAtlas dbSUPER 6.9 +26.5 26485 2.2 EP300 NRF1 POLR2G USF1 RBAK PHB2 ZNF639 ZNF10 ZIC2 ZBTB10 lnc-NDUFAF4-5 MMS22L UFL1 KLHL32 RF00017-5683 RN7SL509P lnc-NDUFAF4-1
GH06J096963 Enhancer 0.5 Ensembl 15.2 +65.7 65688 1 ZNF341 CEBPG MEF2B EBF1 CEBPB PBX3 HLF KLHL32 GPR63 piR-57801-021 piR-61240-247
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KLHL32 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KLHL32

Top Transcription factor binding sites by QIAGEN in the KLHL32 gene promoter:
  • AREB6
  • E47
  • POU2F1
  • POU2F1a
  • POU2F1b
  • POU2F1c
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)

Genomic Locations for KLHL32 Gene

Genomic Locations for KLHL32 Gene
chr6:96,898,013-97,142,614
(GRCh38/hg38)
Size:
244,602 bases
Orientation:
Plus strand
chr6:97,372,496-97,588,630
(GRCh37/hg19)
Size:
216,135 bases
Orientation:
Plus strand

Genomic View for KLHL32 Gene

Genes around KLHL32 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KLHL32 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KLHL32 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KLHL32 Gene

Proteins for KLHL32 Gene

  • Protein details for KLHL32 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96NJ5-KLH32_HUMAN
    Recommended name:
    Kelch-like protein 32
    Protein Accession:
    Q96NJ5
    Secondary Accessions:
    • B7Z346
    • B7Z4E2
    • E1P528
    • Q5THT0
    • Q96PY7

    Protein attributes for KLHL32 Gene

    Size:
    620 amino acids
    Molecular mass:
    70362 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for KLHL32 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KLHL32 Gene

Post-translational modifications for KLHL32 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for KLHL32 Gene

Domains & Families for KLHL32 Gene

Gene Families for KLHL32 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for KLHL32 Gene

Blocks:
  • BTB/POZ domain
  • BTB/Kelch-associated
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KLHL32 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ50156, highly similar to BTB and kelch domain-containing protein 5 (B7Z346_HUMAN)
  • cDNA FLJ52328, highly similar to Mus musculus kelch-like 32 (Drosophila) (Klhl32), mRNA (B7Z4E2_HUMAN)
  • BTB and kelch domain-containing protein 5 (KLH32_HUMAN)
  • Kelch-like 32 (Drosophila) (Q5THS9_HUMAN)
  • KLHL32 protein (Q6IQ08_HUMAN)
genes like me logo Genes that share domains with KLHL32: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for KLHL32 Gene

Function for KLHL32 Gene

Phenotypes From GWAS Catalog for KLHL32 Gene

genes like me logo Genes that share phenotypes with KLHL32: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KLHL32 Gene

Localization for KLHL32 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KLHL32 gene
Compartment Confidence
nucleus 2
cytosol 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for KLHL32 Gene

Pathways & Interactions for KLHL32 Gene

PathCards logo

SuperPathways for KLHL32 Gene

No Data Available

Gene Ontology (GO) - Biological Process for KLHL32 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for KLHL32 Gene

Drugs & Compounds for KLHL32 Gene

No Compound Related Data Available

Transcripts for KLHL32 Gene

mRNA/cDNA for KLHL32 Gene

18 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KLHL32 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c · 9d ^ 10 ^ 11 ^ 12 ^ 13a · 13b
SP1: - - -
SP2: - - - - -
SP3: - - - - - - -
SP4: - -
SP5:
SP6: -

Relevant External Links for KLHL32 Gene

GeneLoc Exon Structure for
KLHL32

Expression for KLHL32 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KLHL32 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KLHL32 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x6.5), Brain - Hippocampus (x5.3), Brain - Substantia nigra (x5.1), Brain - Hypothalamus (x4.2), and Brain - Amygdala (x4.1).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KLHL32

SOURCE GeneReport for Unigene cluster for KLHL32 Gene:

Hs.45056

Evidence on tissue expression from TISSUES for KLHL32 Gene

  • Nervous system(4.9)
genes like me logo Genes that share expression patterns with KLHL32: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for KLHL32 Gene

Orthologs for KLHL32 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KLHL32 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KLHL32 31 30
  • 99.52 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KLHL32 31
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KLHL32 31 30
  • 93.49 (n)
OneToOne
cow
(Bos Taurus)
Mammalia KLHL32 31 30
  • 92.8 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Klhl32 30
  • 91.61 (n)
mouse
(Mus musculus)
Mammalia Klhl32 17 31 30
  • 91.34 (n)
chicken
(Gallus gallus)
Aves KLHL32 31 30
  • 82.9 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KLHL32 31
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.14602 30
zebrafish
(Danio rerio)
Actinopterygii klhl32 31 30
  • 72.31 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.449 31
  • 29 (a)
ManyToMany
-- 31
  • 28 (a)
ManyToMany
-- 31
  • 28 (a)
ManyToMany
Species where no ortholog for KLHL32 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for KLHL32 Gene

ENSEMBL:
Gene Tree for KLHL32 (if available)
TreeFam:
Gene Tree for KLHL32 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KLHL32: view image

Paralogs for KLHL32 Gene

genes like me logo Genes that share paralogs with KLHL32: view

Variants for KLHL32 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KLHL32 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
681254 Benign: not provided 96,898,113(+) A/G FIVE_PRIME_UTR_VARIANT
rs12662753 - p.Asp146Gly
rs2294763 - p.Asn129Ser
rs35143662 - p.Arg5Cys

Additional dbSNP identifiers (rs#s) for KLHL32 Gene

Structural Variations from Database of Genomic Variants (DGV) for KLHL32 Gene

Variant ID Type Subtype PubMed ID
esv1215963 CNV insertion 17803354
esv2370829 CNV deletion 18987734
esv2396648 CNV deletion 18987734
esv2604268 CNV deletion 19546169
esv2656950 CNV deletion 23128226
esv2661411 CNV deletion 23128226
esv2676410 CNV deletion 23128226
esv2732463 CNV deletion 23290073
esv2732464 CNV deletion 23290073
esv27575 CNV loss 19812545
esv3540181 CNV deletion 23714750
esv3540182 CNV deletion 23714750
esv3571308 CNV loss 25503493
esv3610082 CNV loss 21293372
esv8405 CNV loss 19470904
nsv436524 CNV deletion 17901297
nsv472682 CNV novel sequence insertion 20440878
nsv474329 CNV novel sequence insertion 20440878
nsv524695 CNV loss 19592680
nsv5402 CNV insertion 18451855
nsv956549 CNV deletion 24416366

Variation tolerance for KLHL32 Gene

Residual Variation Intolerance Score: 14.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.71; 66.16% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KLHL32 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KLHL32

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KLHL32 Gene

Disorders for KLHL32 Gene

MalaCards: The human disease database

(2) MalaCards diseases for KLHL32 Gene - From: DISEASES

Disorder Aliases PubMed IDs
tic disorder
  • tics
mitochondrial complex i deficiency, nuclear type 1
  • mc1dn1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for KLHL32

genes like me logo Genes that share disorders with KLHL32: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KLHL32 Gene

Publications for KLHL32 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  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. (PMID: 11572484) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2001) 3 4 54
  3. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 54
  4. Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia. (PMID: 24954895) Simino J … Rao DC (American journal of human genetics 2014) 3 54
  5. A meta-analysis identifies new loci associated with body mass index in individuals of African ancestry. (PMID: 23583978) Monda KL … Haiman CA (Nature genetics 2013) 3 54

Products for KLHL32 Gene

Sources for KLHL32 Gene