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KLHL31 kelch like family member 31 [ Homo sapiens (human) ]

Gene ID: 401265, updated on 25-Jan-2022

Summary

Official Symbol
KLHL31provided by HGNC
Official Full Name
kelch like family member 31provided by HGNC
Primary source
HGNC:HGNC:21353
See related
Ensembl:ENSG00000124743 MIM:610749; AllianceGenome:HGNC:21353
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
KLHL; BKLHD6; KBTBD1; bA345L23.2
Summary
Involved in negative regulation of JNK cascade and negative regulation of protein phosphorylation. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Nov 2021]
Expression
Biased expression in heart (RPKM 15.6), fat (RPKM 6.5) and 1 other tissue See more
Orthologs
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Genomic context

See KLHL31 in Genome Data Viewer
Location:
6p12.1
Exon count:
4
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (53647916..53665854, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (53512714..53530554, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1564 Neighboring gene Sharpr-MPRA regulatory region 10125 Neighboring gene Sharpr-MPRA regulatory region 11274 Neighboring gene leucine rich repeat containing 1

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Phenotypes

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in negative regulation of JNK cascade IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of protein phosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
kelch-like protein 31
Names
BTB and kelch domain-containing protein 6
kelch repeat and BTB (POZ) domain containing 1
kelch repeat and BTB domain-containing protein 1
kelch-like protein KLHL

NCBI Reference Sequences (RefSeq)

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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_001003760.5NP_001003760.2  kelch-like protein 31

    See identical proteins and their annotated locations for NP_001003760.2

    Status: VALIDATED

    Source sequence(s)
    AL157773, EF633513
    Consensus CDS
    CCDS34478.1
    UniProtKB/Swiss-Prot
    Q9H511
    Related
    ENSP00000359942.3, ENST00000370905.4
    Conserved Domains (6) summary
    smart00612
    Location:420466
    Kelch; Kelch domain
    PHA03098
    Location:73601
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:356405
    Kelch; KELCH repeat [structural motif]
    pfam00651
    Location:63164
    BTB; BTB/POZ domain
    pfam01344
    Location:455500
    Kelch_1; Kelch motif
    pfam07707
    Location:172273
    BACK; BTB And C-terminal Kelch

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    53647916..53665854 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005249107.4XP_005249164.1  kelch-like protein 31 isoform X1

    See identical proteins and their annotated locations for XP_005249164.1

    UniProtKB/Swiss-Prot
    Q9H511
    Related
    ENSP00000384644.1, ENST00000407079.1
    Conserved Domains (6) summary
    smart00612
    Location:420466
    Kelch; Kelch domain
    PHA03098
    Location:73601
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:356405
    Kelch; KELCH repeat [structural motif]
    pfam00651
    Location:63164
    BTB; BTB/POZ domain
    pfam01344
    Location:455500
    Kelch_1; Kelch motif
    pfam07707
    Location:172273
    BACK; BTB And C-terminal Kelch
  2. XM_017010858.1XP_016866347.1  kelch-like protein 31 isoform X1

    UniProtKB/Swiss-Prot
    Q9H511
    Conserved Domains (6) summary
    smart00612
    Location:420466
    Kelch; Kelch domain
    PHA03098
    Location:73601
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:356405
    Kelch; KELCH repeat [structural motif]
    pfam00651
    Location:63164
    BTB; BTB/POZ domain
    pfam01344
    Location:455500
    Kelch_1; Kelch motif
    pfam07707
    Location:172273
    BACK; BTB And C-terminal Kelch
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