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Aliases for KLHL1 Gene

Aliases for KLHL1 Gene

  • Kelch-Like Family Member 1 2 3
  • 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

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. GO annotations related to this gene include actin binding. An important paralog of this gene is KLHL10.

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

Genomic Location for KLHL1 Gene

Start:
69,700,593 bp from pter
End:
70,108,493 bp from pter
Size:
407,901 bases
Orientation:
Minus strand

Genomic View for KLHL1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KLHL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KLHL1 Gene

Regulatory Elements for KLHL1 Gene

Proteins for KLHL1 Gene

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

    Protein Symbol:
    Q9NR64-KLHL1_HUMAN
    Recommended name:
    Kelch-like protein 1
    Protein Accession:
    Q9NR64
    Secondary Accessions:
    • A8K5X0
    • Q5VZ64
    • Q9H4X4
    • Q9NR65
    • Q9P238

    Protein attributes for KLHL1 Gene

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

neXtProt entry for KLHL1 Gene

Proteomics data for KLHL1 Gene at MOPED

Post-translational modifications for KLHL1 Gene

No Post-translational modifications

Other Protein References for KLHL1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KLHL1 Gene

Domains for KLHL1 Gene

Gene Families for KLHL1 Gene

HGNC:
  • BTBD :BTB/POZ domain containing
  • KLHL :Kelch-like

UniProtKB/Swiss-Prot:

KLHL1_HUMAN
Domain:
  • Contains 1 BTB (POZ) domain.:
    • Q9NR64
Similarity:
  • Contains 6 Kelch repeats.:
    • Q9NR64
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:0005515 protein binding --
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:

miRNA for KLHL1 Gene

miRTarBase miRNAs that target KLHL1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for KLHL1 Gene

Localization for KLHL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KLHL1 Gene

Cytoplasm, cytoskeleton.

Subcellular locations from

COMPARTMENTS
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 IDA 10888605
GO:0005856 cytoskeleton IEA --
GO:0030425 dendrite IEA --
GO:0043025 neuronal cell body IEA --
genes like me logo Genes that share ontologies with KLHL1: view

Pathways for KLHL1 Gene

SuperPathways for KLHL1 Gene

No Data Available

Interacting Proteins for KLHL1 Gene

Gene Ontology (GO) - Biological Process for KLHL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007626 locomotory behavior --
GO:0007628 adult walking behavior IEA --
GO:0016358 dendrite development IEA --
GO:0021680 cerebellar Purkinje cell layer development IEA --
GO:0030036 actin cytoskeleton organization NAS 10888605
genes like me logo Genes that share ontologies with KLHL1: view

No data available for Pathways by source for KLHL1 Gene

Transcripts for KLHL1 Gene

mRNA/cDNA for KLHL1 Gene

(2) 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:

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: -
SP2:
SP3: -

Relevant External Links for KLHL1 Gene

GeneLoc Exon Structure for
KLHL1
ECgene alternative splicing isoforms for
KLHL1

Expression for KLHL1 Gene

mRNA expression in normal human tissues 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 (18.2) and Brain - Hypothalamus (12.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for KLHL1 Gene

SOURCE GeneReport for Unigene cluster for KLHL1 Gene Hs.508201

mRNA Expression by UniProt/SwissProt for KLHL1 Gene

Q9NR64-KLHL1_HUMAN
Tissue specificity: Highly expressed in brain
genes like me logo Genes that share expressions with KLHL1: view

Orthologs for KLHL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for KLHL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KLHL1 36
  • 99.38 (n)
  • 99.33 (a)
KLHL1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KLHL1 36
  • 91.53 (n)
  • 95.99 (a)
KLHL1 37
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KLHL1 36
  • 92.07 (n)
  • 97.15 (a)
KLHL1 37
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Klhl1 36
  • 89.26 (n)
  • 95.59 (a)
Klhl1 16
Klhl1 37
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KLHL1 37
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Klhl1 36
  • 87.46 (n)
  • 92.23 (a)
chicken
(Gallus gallus)
Aves KLHL1 36
  • 82.43 (n)
  • 90.49 (a)
KLHL1 37
  • 87 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KLHL1 37
  • 88 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG17754 37
  • 50 (a)
OneToMany
CG15097 38
  • 37 (a)
CG17754 38
  • 58 (a)
CG3571 38
  • 39 (a)
worm
(Caenorhabditis elegans)
Secernentea T27E9.4b 38
  • 34 (a)
T27E9.4a 38
  • 34 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 61 (a)
OneToMany
Species with no ortholog for KLHL1:
  • 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

ENSEMBL:
Gene Tree for KLHL1 (if available)
TreeFam:
Gene Tree for KLHL1 (if available)

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 Sequence Context AA Info Type MAF
rs2756 -- 69,700,663(+) ACATT(C/G)TGTAA utr-variant-3-prime
rs2757 -- 69,700,689(+) TTAAA(C/T)AATTA utr-variant-3-prime
rs159918 -- 70,101,330(+) TTATA(C/T)ATAAG intron-variant
rs159919 -- 70,071,564(+) acatc(A/C/G)cattg intron-variant
rs299524 -- 70,077,056(+) ggaag(A/C)acatt intron-variant

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

Variant ID Type Subtype PubMed ID
nsv900481 CNV Loss 21882294
nsv900482 CNV Loss 21882294
nsv900483 CNV Loss 21882294
dgv1674n71 CNV Loss 21882294
nsv900486 CNV Loss 21882294
nsv832643 CNV Gain 17160897
nsv900487 CNV Loss 21882294
nsv826692 CNV Gain 20364138
nsv436166 CNV Deletion 17901297
esv2564277 CNV Deletion 19546169
esv2405237 CNV Deletion 18987734
esv2659407 CNV Deletion 23128226
esv27552 CNV Loss 19812545
nsv510347 CNV Loss 20534489
esv2747588 CNV Deletion 23290073
dgv1675n71 CNV Loss 21882294
dgv1676n71 CNV Loss 21882294
nsv900494 CNV Gain 21882294
esv2422425 CNV Deletion 17116639
nsv900495 CNV Gain 21882294
nsv455967 CNV Loss 19166990
esv2678945 CNV Deletion 23128226
nsv519463 CNV Loss 19592680

Relevant External Links for KLHL1 Gene

HapMap Linkage Disequilibrium report
KLHL1
Human Gene Mutation Database (HGMD)
KLHL1

Disorders for KLHL1 Gene

(1) University of Copenhagen DISEASES for KLHL1 Gene

Relevant External Links for KLHL1

Genetic Association Database (GAD)
KLHL1
Human Genome Epidemiology (HuGE) Navigator
KLHL1
genes like me logo Genes that share disorders with KLHL1: view

No data available for UniProtKB/Swiss-Prot 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 23
  2. 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 23
  3. Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10819331) Nagase T. … Ohara O. (DNA Res. 2000) 3 4
  4. 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 49
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4

Products for KLHL1 Gene

Sources for KLHL1 Gene

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