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

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 2024]
Expression: Biased expression in heart (RPKM 15.6), fat (RPKM 6.5) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 6p12.1

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (53647916..53665756, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (53487843..53505696, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (53512714..53530554, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

These results suggest that KLHL31 protein may act as a new transcriptional repressor in MAPK/JNK signaling pathway to regulate cellular functions.
Title: A novel human BTB-kelch protein KLHL31, strongly expressed in muscle and heart, inhibits transcriptional activities of TRE and SRE.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Markers

SHGC-80641 (e-PCR)
- UniSTS:102205

G63292 (e-PCR)
- UniSTS:140405

Gene Ontology Provided by GOA

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

General protein information

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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)

NM_001003760.5 → NP_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

A6N9J2, B2RP49, Q9H511

Related

ENSP00000359942.3, ENST00000370905.4

Conserved Domains (6) summary

smart00612
Location:420 → 466

Kelch; Kelch domain

PHA03098
Location:73 → 601

PHA03098; kelch-like protein; Provisional

sd00038
Location:356 → 405

Kelch; KELCH repeat [structural motif]

pfam00651
Location:63 → 164

BTB; BTB/POZ domain

pfam01344
Location:455 → 500

Kelch_1; Kelch motif

pfam07707
Location:172 → 273

BACK; BTB And C-terminal Kelch