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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. Gene Ontology (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

Additional gene information for KLHL1 Gene

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

Genomics for KLHL1 Gene

GeneHancer (GH) Regulatory Elements for KLHL1 Gene

Promoters and enhancers for KLHL1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH13J070108 Promoter 0.5 EPDnew 650.7 +0.0 21 0.1 KLHL1 ATXN8OS
GH13J070248 Enhancer 0.7 ENCODE 11.1 -141.0 -141005 1.2 ELF3 SOX13 FOXA2 ZNF792 SAP130 ZNF644 RARA NR2F6 FOS SOX5 ATXN8OS KLHL1 GC13P070460
GH13J069987 Enhancer 0.2 FANTOM5 3.5 +120.6 120622 0.3 KLHL1 GC13P069967 LUC7L3P1
GH13J070042 Enhancer 0.6 ENCODE 0.2 +66.1 66078 0.6 TRIM22 JUNB MEF2B DPF2 ATF2 ZNF217 BCL11A TARDBP IKZF1 NBN LUC7L3P1 KLHL1 GC13P069967
GH13J070097 Enhancer 0.2 FANTOM5 0.4 +11.2 11212 0.3 ATXN8OS LUC7L3P1 KLHL1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KLHL1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KLHL1 gene promoter:
  • TBP
  • Nkx2-5
  • Pax-5
  • NF-AT2
  • NF-AT

Genomic Locations for KLHL1 Gene

Genomic Locations for KLHL1 Gene
407,901 bases
Minus strand
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

No data available for DME Specific Peptides for KLHL1 Gene

Domains & Families for KLHL1 Gene

Gene Families for KLHL1 Gene

Protein Domains for KLHL1 Gene

Suggested Antigen Peptide Sequences for KLHL1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with KLHL1: view

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

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.

Phenotypes From GWAS Catalog for KLHL1 Gene

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 --
GO:0005515 protein binding IEA --
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

Clone 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

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 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 IDA,IEA 10888605
GO:0005856 cytoskeleton IEA --
GO:0030425 dendrite IBA,IEA --
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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for KLHL1 Gene

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 IBA,IEA --
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

Drugs & Compounds for KLHL1 Gene

No Compound Related Data Available

Transcripts for KLHL1 Gene

mRNA/cDNA for KLHL1 Gene

(4) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(15) 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:

Clone 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 CGAP 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 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.

Evidence on tissue expression from TISSUES for KLHL1 Gene

  • Nervous system(4.8)
genes like me logo Genes that share expression patterns with KLHL1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for KLHL1 Gene

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 33
  • 99.38 (n)
(Monodelphis domestica)
Mammalia KLHL1 34
  • 94 (a)
(Canis familiaris)
Mammalia KLHL1 34 33
  • 92.07 (n)
(Bos Taurus)
Mammalia KLHL1 34 33
  • 91.53 (n)
(Mus musculus)
Mammalia Klhl1 16 34 33
  • 89.26 (n)
(Rattus norvegicus)
Mammalia Klhl1 33
  • 87.46 (n)
(Gallus gallus)
Aves KLHL1 34 33
  • 82.43 (n)
(Anolis carolinensis)
Reptilia KLHL1 34
  • 88 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG17754 34 35
  • 50 (a)
CG3571 35
  • 39 (a)
CG15097 35
  • 37 (a)
(Caenorhabditis elegans)
Secernentea T27E9.4b 35
  • 34 (a)
T27E9.4a 35
  • 34 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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)
Evolutionary constrained regions (ECRs) for KLHL1: view image

Paralogs for KLHL1 Gene

genes like me logo Genes that share paralogs with KLHL1: view

Variants for KLHL1 Gene

Sequence variations from dbSNP and Humsavar for KLHL1 Gene

SNP ID Clin Chr 13 pos Variation AA Info Type
rs1000004502 -- 69,867,951(-) A/G intron_variant
rs1000008022 -- 69,708,585(-) A/T intron_variant
rs1000018997 -- 69,979,339(-) T/G genic_upstream_transcript_variant, intron_variant
rs1000041566 -- 69,902,547(-) A/G intron_variant
rs1000047300 -- 69,882,062(-) T/A 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)

Additional Variant Information for KLHL1 Gene

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

SNP Genotyping and Copy Number Assay Products

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: HGMD and DISEASES

Disorder Aliases PubMed IDs
spinocerebellar ataxia 8
  • sca8
- elite association - COSMIC cancer census association via MalaCards
Search KLHL1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for KLHL1

Genetic Association Database
Human Genome Epidemiology 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) Nemes JP … Koob MD (Human molecular genetics 2000) 2 3 4 22 58
  2. UGT1A1 is a major locus influencing bilirubin levels in African Americans. (PMID: 22085899) Chen G … Rotimi CN (European journal of human genetics : EJHG 2012) 3 44 58
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  4. The Kelch-like protein 1 modulates P/Q-type calcium current density. (PMID: 17289272) Aromolaran KA … Piedras-Rentería ES (Neuroscience 2007) 3 22 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for KLHL1 Gene

Sources for KLHL1 Gene

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