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KLHL1 kelch like family member 1 [ Homo sapiens (human) ]

Gene ID: 57626, updated on 5-Nov-2017
Official Symbol
KLHL1provided by HGNC
Official Full Name
kelch like family member 1provided by HGNC
Primary source
HGNC:HGNC:6352
See related
Ensembl:ENSG00000150361 MIM:605332; Vega:OTTHUMG00000017056
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MRP2
Summary
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]
Orthologs
Location:
13q21.33
Exon count:
13
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 13 NC_000013.11 (69700593..70108493, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (70274725..70682625, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 383 Neighboring gene serine and arginine rich splicing factor 1 pseudogene 1 Neighboring gene RNA, Ro-associated Y3 pseudogene 10 Neighboring gene proteasome 26S subunit, ATPase 1 pseudogene 13 Neighboring gene 5',3'-nucleotidase, cytosolic pseudogene 3 Neighboring gene LUC7 like 3 pre-mRNA splicing factor pseudogene 1 Neighboring gene ATXN8 opposite strand (non-protein coding) Neighboring gene RNA, U6 small nuclear 54, pseudogene Neighboring gene uncharacterized LOC105370255

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.
NHGRI GWA Catalog
Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).
NHGRI GWA Catalog
Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog
UGT1A1 is a major locus influencing bilirubin levels in African Americans.
NHGRI GWA Catalog

Replication interactions

Interaction Pubs
Knockdown of kelch-like 1 (KLHL1) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

Go to the HIV-1, Human Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ30047, KIAA1490

Gene Ontology Provided by GOA

Function Evidence Code Pubs
actin binding NAS
Non-traceable Author Statement
more info
PubMed 
contributes_to ubiquitin-protein transferase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
Process Evidence Code Pubs
actin cytoskeleton organization NAS
Non-traceable Author Statement
more info
PubMed 
adult walking behavior IEA
Inferred from Electronic Annotation
more info
 
cerebellar Purkinje cell layer development IEA
Inferred from Electronic Annotation
more info
 
dendrite development IBA
Inferred from Biological aspect of Ancestor
more info
 
protein ubiquitination IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Cul3-RING ubiquitin ligase complex IBA
Inferred from Biological aspect of Ancestor
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
dendrite IBA
Inferred from Biological aspect of Ancestor
more info
 
neuronal cell body IBA
Inferred from Biological aspect of Ancestor
more info
 
Preferred Names
kelch-like protein 1
Names
Mayven-related protein 2

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001286725.1NP_001273654.1  kelch-like protein 1 isoform 2

    See identical proteins and their annotated locations for NP_001273654.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AF252283, AK291435, AK295939, BC022460
    Consensus CDS
    CCDS73582.1
    UniProtKB/Swiss-Prot
    Q9NR64
    UniProtKB/TrEMBL
    B7Z3I8, F5H1J3, Q8TBJ7
    Related
    ENSP00000439602.2, ENST00000545028.2
    Conserved Domains (6) summary
    smart00612
    Location:494539
    Kelch; Kelch domain
    PHA03098
    Location:164667
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:435478
    Kelch; KELCH repeat [structural motif]
    pfam00651
    Location:165244
    BTB; BTB/POZ domain
    pfam01344
    Location:434479
    Kelch_1; Kelch motif
    pfam07707
    Location:253352
    BACK; BTB And C-terminal Kelch
  2. NM_020866.2NP_065917.1  kelch-like protein 1 isoform 1

    See identical proteins and their annotated locations for NP_065917.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AF252283, AK291435, BC022460
    Consensus CDS
    CCDS9445.1
    UniProtKB/Swiss-Prot
    Q9NR64
    UniProtKB/TrEMBL
    Q8TBJ7
    Related
    ENSP00000367075.4, OTTHUMP00000018492, ENST00000377844.8, OTTHUMT00000045231
    Conserved Domains (6) summary
    smart00612
    Location:555600
    Kelch; Kelch domain
    PHA03098
    Location:206728
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:496539
    Kelch; KELCH repeat [structural motif]
    pfam00651
    Location:202305
    BTB; BTB/POZ domain
    pfam01344
    Location:495540
    Kelch_1; Kelch motif
    pfam07707
    Location:314413
    BACK; BTB And C-terminal Kelch

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p7 Primary Assembly

    Range
    69700593..70108493 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017020678.1XP_016876167.1  kelch-like protein 1 isoform X1

  2. XM_017020679.1XP_016876168.1  kelch-like protein 1 isoform X2

Alternate CHM1_1.1

Genomic

  1. NC_018924.2 Alternate CHM1_1.1

    Range
    70242241..70650179 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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