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Aliases for KLHL1 Gene

Aliases for KLHL1 Gene

  • Kelch Like Family Member 1 2 3 5
  • Mayven-Related Protein 2 2 3
  • Kelch-Like Protein 1 2 3
  • Kelch (Drosophila)-Like 1 2
  • Kelch-Like 1 (Drosophila) 2
  • KIAA1490 4
  • MRP2 3

External Ids for KLHL1 Gene

Previous GeneCards Identifiers for KLHL1 Gene

  • GC13M068242
  • GC13M064269
  • GC13M069211
  • GC13M068072
  • GC13M069172
  • GC13M070274
  • GC13M050976

Summaries for KLHL1 Gene

Entrez Gene Summary for KLHL1 Gene

  • The KLHL1 protein belongs to a family of actin-organizing proteins related to Drosophila Kelch (Nemes et al., 2000 [PubMed 10888605]).[supplied by OMIM, Feb 2010]

GeneCards Summary for KLHL1 Gene

KLHL1 (Kelch Like Family Member 1) is a Protein Coding gene. Diseases associated with KLHL1 include Spinocerebellar Ataxia 8. GO annotations related to this gene include actin binding. An important paralog of this gene is KLHL4.

UniProtKB/Swiss-Prot for KLHL1 Gene

  • May play a role in organizing the actin cytoskeleton of the brain cells.

Gene Wiki entry for KLHL1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KLHL1 Gene

Genomics for KLHL1 Gene

Regulatory Elements for KLHL1 Gene

Enhancers for KLHL1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH13F070248 0.6 ENCODE 11.1 -141.0 -141006 1.2 SOX13 ELF3 ZNF792 SAP130 ZNF644 RARA NR2F6 FOS SOX5 TFE3 ATXN8OS KLHL1 GC13P070460
GH13F069987 0.3 FANTOM5 3.5 +120.6 120623 0.3 KLHL1 GC13P069967 LUC7L3P1
GH13F070424 0.5 ENCODE 0.1 -316.0 -316002 0.5 GC13P070460 KLHL1
GH13F070432 0.5 ENCODE 0.1 -324.2 -324210 1.0 TEAD4 POU5F1 RNU6-54P GC13P070460 KLHL1
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around KLHL1 on UCSC Golden Path with GeneCards custom track

Genomic Location for KLHL1 Gene

69,700,593 bp from pter
70,108,493 bp from pter
407,901 bases
Minus strand

Genomic View for KLHL1 Gene

Genes around KLHL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KLHL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KLHL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KLHL1 Gene

Proteins for KLHL1 Gene

  • Protein details for KLHL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Kelch-like protein 1
    Protein Accession:
    Secondary Accessions:
    • A8K5X0
    • Q5VZ64
    • Q9H4X4
    • Q9NR65
    • Q9P238

    Protein attributes for KLHL1 Gene

    748 amino acids
    Molecular mass:
    82680 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAA96014.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for KLHL1 Gene

Post-translational modifications for KLHL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KLHL1 Gene

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for KLHL1

No data available for DME Specific Peptides for KLHL1 Gene

Domains & Families for KLHL1 Gene

Gene Families for KLHL1 Gene

Suggested Antigen Peptide Sequences for KLHL1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 BTB (POZ) domain.
  • Contains 6 Kelch repeats.
  • Contains 1 BTB (POZ) domain.
  • Contains 6 Kelch repeats.
genes like me logo Genes that share domains with KLHL1: view

Function for KLHL1 Gene

Molecular function for KLHL1 Gene

UniProtKB/Swiss-Prot Function:
May play a role in organizing the actin cytoskeleton of the brain cells.

Gene Ontology (GO) - Molecular Function for KLHL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding NAS 10888605
GO:0004842 contributes_to ubiquitin-protein transferase activity IBA --
genes like me logo Genes that share ontologies with KLHL1: view
genes like me logo Genes that share phenotypes with KLHL1: view

Animal Models for KLHL1 Gene

MGI Knock Outs for KLHL1:

Animal Model Products

miRNA for KLHL1 Gene

miRTarBase miRNAs that target KLHL1

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for KLHL1 Gene

Localization for KLHL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KLHL1 Gene

Cytoplasm, cytoskeleton.

Subcellular locations from

Jensen Localization Image for KLHL1 Gene COMPARTMENTS Subcellular localization image for KLHL1 gene
Compartment Confidence
cytoskeleton 5
cytosol 3
endosome 1

Gene Ontology (GO) - Cellular Components for KLHL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 10888605
GO:0005856 cytoskeleton IEA --
GO:0030425 dendrite IEA,IBA --
GO:0031463 Cul3-RING ubiquitin ligase complex IBA --
GO:0043025 neuronal cell body IEA,IBA --
genes like me logo Genes that share ontologies with KLHL1: view

Pathways & Interactions for KLHL1 Gene

SuperPathways for KLHL1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for KLHL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007626 locomotory behavior IEA --
GO:0007628 adult walking behavior IEA --
GO:0016358 dendrite development IEA,IBA --
GO:0016567 protein ubiquitination IEA --
GO:0021680 cerebellar Purkinje cell layer development IEA --
genes like me logo Genes that share ontologies with KLHL1: view

No data available for Pathways by source and SIGNOR curated interactions for KLHL1 Gene

Transcripts for KLHL1 Gene

mRNA/cDNA for KLHL1 Gene

(4) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KLHL1 Gene

Kelch-like family member 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KLHL1 Gene

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

Relevant External Links for KLHL1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for KLHL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KLHL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KLHL1 Gene

This gene is overexpressed in Brain - Substantia nigra (x18.2) and Brain - Hypothalamus (x12.5).

Protein differential expression in normal tissues from HIPED for KLHL1 Gene

This gene is overexpressed in Pancreatic juice (31.1), Skin (18.2), and Heart (17.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KLHL1 Gene

Protein tissue co-expression partners for KLHL1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of KLHL1 Gene:


SOURCE GeneReport for Unigene cluster for KLHL1 Gene:


mRNA Expression by UniProt/SwissProt for KLHL1 Gene:

Tissue specificity: Highly expressed in brain.
genes like me logo Genes that share expression patterns with KLHL1: view

Primer Products

Orthologs for KLHL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for KLHL1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia KLHL1 34 35
  • 99.38 (n)
(Monodelphis domestica)
Mammalia KLHL1 35
  • 94 (a)
(Canis familiaris)
Mammalia KLHL1 34 35
  • 92.07 (n)
(Bos Taurus)
Mammalia KLHL1 34 35
  • 91.53 (n)
(Mus musculus)
Mammalia Klhl1 34 16 35
  • 89.26 (n)
(Rattus norvegicus)
Mammalia Klhl1 34
  • 87.46 (n)
(Gallus gallus)
Aves KLHL1 34 35
  • 82.43 (n)
(Anolis carolinensis)
Reptilia KLHL1 35
  • 88 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG17754 36 35
  • 58 (a)
CG3571 36
  • 39 (a)
CG15097 36
  • 37 (a)
(Caenorhabditis elegans)
Secernentea T27E9.4a 36
  • 34 (a)
T27E9.4b 36
  • 34 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 61 (a)
Species where no ortholog for KLHL1 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)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for KLHL1 Gene

Gene Tree for KLHL1 (if available)
Gene Tree for KLHL1 (if available)

Paralogs for KLHL1 Gene

Variants for KLHL1 Gene

Sequence variations from dbSNP and Humsavar for KLHL1 Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type
rs10047674 -- 69,748,559(+) TATAA(C/T)TCAAG intron-variant
rs10161795 -- 69,960,156(+) GTTAT(C/T)TTAGT intron-variant
rs1019580 -- 69,854,723(+) TTTTG(C/T)TCCAG intron-variant
rs1019581 -- 69,854,915(+) TGAAA(C/T)GGTGC intron-variant
rs1025821 -- 70,050,131(+) CAGCC(C/T)CTAAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KLHL1 Gene

Variant ID Type Subtype PubMed ID
dgv113e215 CNV deletion 23714750
dgv3234n54 CNV loss 21841781
dgv3235n54 CNV loss 21841781
dgv3236n54 CNV loss 21841781
esv2405237 CNV deletion 18987734
esv2422425 CNV deletion 17116639
esv2564277 CNV deletion 19546169
esv2659407 CNV deletion 23128226
esv2678945 CNV deletion 23128226
esv2747588 CNV deletion 23290073
esv27552 CNV loss 19812545
esv2763039 CNV loss 21179565
esv3550656 CNV deletion 23714750
esv3580741 CNV loss 25503493
esv3580742 CNV loss 25503493
esv3580743 CNV loss 25503493
esv3580744 CNV loss 25503493
esv3632631 CNV loss 21293372
esv3632633 CNV loss 21293372
esv3632634 CNV loss 21293372
esv3632635 CNV loss 21293372
esv3892386 CNV loss 25118596
nsv1038695 CNV loss 25217958
nsv1045844 CNV gain 25217958
nsv1049684 CNV gain 25217958
nsv1051815 CNV gain 25217958
nsv1053979 CNV loss 25217958
nsv1144687 CNV deletion 24896259
nsv436166 CNV deletion 17901297
nsv455967 CNV loss 19166990
nsv474492 CNV novel sequence insertion 20440878
nsv510347 OTHER sequence alteration 20534489
nsv519463 CNV loss 19592680
nsv562207 CNV loss 21841781
nsv562208 CNV loss 21841781
nsv562219 CNV loss 21841781
nsv562220 CNV loss 21841781
nsv826692 CNV gain 20364138
nsv832643 CNV gain 17160897

Variation tolerance for KLHL1 Gene

Residual Variation Intolerance Score: 22.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.05; 37.58% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KLHL1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KLHL1 Gene

Disorders for KLHL1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KLHL1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
spinocerebellar ataxia 8
  • spinocerebellar ataxia type 8
- elite association - COSMIC cancer census association via MalaCards
Search KLHL1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for KLHL1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with KLHL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KLHL1 Gene

Publications for KLHL1 Gene

  1. The SCA8 transcript is an antisense RNA to a brain-specific transcript encoding a novel actin-binding protein (KLHL1). (PMID: 10888605) Koob M.D. … Benzow K.A. (Hum. Mol. Genet. 2000) 2 3 4 22 64
  2. UGT1A1 is a major locus influencing bilirubin levels in African Americans. (PMID: 22085899) Chen G. … Rotimi C.N. (Eur. J. Hum. Genet. 2012) 3 46 64
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  4. The Kelch-like protein 1 modulates P/Q-type calcium current density. (PMID: 17289272) Aromolaran K.A. … Piedras-RenterA-a E.S. (Neuroscience 2007) 3 22 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for KLHL1 Gene

Sources for KLHL1 Gene

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