KLHL25 kelch like family member 25 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KLHL25provided by HGNC
Official Full Name: kelch like family member 25provided by HGNC
Primary source: HGNC:HGNC:25732
See related: Ensembl:ENSG00000183655 MIM:619893; AllianceGenome:HGNC:25732
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: ENC2; ENC-2
Summary: Involved in protein ubiquitination; regulation of translational initiation; and ubiquitin-dependent protein catabolic process. Located in cytoplasm. Part of Cul3-RING ubiquitin ligase complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in brain (RPKM 6.7), testis (RPKM 5.6) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q25.3

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (85759326..85794925, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (83511457..83547035, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (86302557..86338156, complement)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

ACLY ubiquitination by CUL3-KLHL25 induces the reprogramming of fatty acid metabolism to facilitate iTreg differentiation.
Title: ACLY ubiquitination by CUL3-KLHL25 induces the reprogramming of fatty acid metabolism to facilitate iTreg differentiation.
CUL3 interacts with ACLY through its adaptor protein, KLHL25 (Kelch-like family member 25), to ubiquitinate and degrade ACLY in cells
Title: Cullin3-KLHL25 ubiquitin ligase targets ACLY for degradation to inhibit lipid synthesis and tumor progression.

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
A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients. EBI GWAS Catalog EBI GWAS CatalogPubMed
Evidence for shared genetic risk between methamphetamine-induced psychosis and schizophrenia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham Study. 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ubiquitin-like ligase-substrate adaptor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in negative regulation of fatty acid biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of fatty acid oxidation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of fatty acid oxidation	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein ubiquitination	IEA Inferred from Electronic Annotation more info
involved_in regulation of translational initiation	IDA Inferred from Direct Assay more info	PubMed
involved_in ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in ubiquitin-dependent protein catabolic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of Cul3-RING ubiquitin ligase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of Cul3-RING ubiquitin ligase complex	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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Preferred Names: kelch-like protein 25

Names: BTB/POZ KELCH domain protein; ectoderm-neural cortex protein 2; ectodermal-neural cortex 2; kelch-like 25

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_022480.4 → NP_071925.2 kelch-like protein 25

See identical proteins and their annotated locations for NP_071925.2

Status: VALIDATED

Source sequence(s)

AY764034, DA337553, DB063745

Consensus CDS

CCDS10339.1

UniProtKB/Swiss-Prot

B2RDH2, B3KRT7, Q9H0H3

UniProtKB/TrEMBL

B3KPR7

Related

ENSP00000336800.5, ENST00000337975.6

Conserved Domains (4) summary

PHA03098
Location:39 → 566

PHA03098; kelch-like protein; Provisional

sd00038
Location:330 → 374

Kelch; KELCH repeat [structural motif]

cd18254
Location:24 → 151

BTB_POZ_KLHL25; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch-like protein 25 (KLHL25)

cd18514
Location:144 → 242

BACK_KLHL25_ENC2; BACK (BTB and C-terminal Kelch) domain found in Kelch-like protein 25 (KLHL25)