KLHL41 kelch like family member 41 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KLHL41provided by HGNC
Official Full Name: kelch like family member 41provided by HGNC
Primary source: HGNC:HGNC:16905
See related: Ensembl:ENSG00000239474 MIM:607701; AllianceGenome:HGNC:16905
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: Krp1; KBTBD10; SARCOSIN
Summary: This gene is a member of the kelch-like family. The encoded protein contains a BACK domain, a BTB/POZ domain, and 5 Kelch repeats. This protein is thought to function in skeletal muscle development and maintenance. Mutations in this gene have been associated with nemaline myopathy (NM), a rare congenital muscle disorder. [provided by RefSeq, Mar 2015]
Expression: Biased expression in prostate (RPKM 65.0), esophagus (RPKM 43.9) and 2 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q31.1

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (169509702..169526258)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (169986941..170003489)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (170366212..170382768)

Chromosome 2 - NC_000002.12 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?

Mutations in KLHL41 showed phenotype-genotype correlation: Frameshift mutations resulted in severe phenotypes with neonatal death, whereas missense changes resulted in impaired motor function with survival into late childhood and/or early adulthood.
Title: Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy.

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

Associated conditions

Description	Tests
Nemaline myopathy 9 MedGen: C3810384 OMIM: 615731 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	Microarray analysis indicates HIV-1 Tat-induced downregulation of kelch-like family member 41 (KLHL41; KBTBD10) in primary human brain microvascular endothelial cells	PubMed

Go to the HIV-1, Human Interaction Database

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 protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in myofibril assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in pseudopodium assembly	IEA Inferred from Electronic Annotation more info
involved_in regulation of myoblast differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of myoblast differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of myoblast proliferation	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of myoblast proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of skeletal muscle cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in skeletal muscle cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in striated muscle contraction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of Cul3-RING ubiquitin ligase complex	IDA Inferred from Direct Assay more info	PubMed
is_active_in M band	IBA Inferred from Biological aspect of Ancestor more info
located_in M band	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoskeleton	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in pseudopodium	IEA Inferred from Electronic Annotation more info
located_in ruffle	IEA Inferred from Electronic Annotation more info
is_active_in sarcoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in sarcoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: kelch-like protein 41

Names: kel-like protein 23; kelch repeat and BTB (POZ) domain containing 10; kelch-related protein 1; sarcomeric muscle protein

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.

Genomic

NG_042051.1 RefSeqGene

Range

5001..21557

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_006063.3 → NP_006054.2 kelch-like protein 41

See identical proteins and their annotated locations for NP_006054.2

Status: REVIEWED

Source sequence(s)

AA194290, AF056929, AF333387, BC006534

Consensus CDS

CCDS2234.1

UniProtKB/Swiss-Prot

O60662, Q53R42

UniProtKB/TrEMBL

B2RE63

Related

ENSP00000284669.1, ENST00000284669.2

Conserved Domains (3) summary

PHA03098
Location:39 → 578

PHA03098; kelch-like protein; Provisional

sd00038
Location:388 → 433

Kelch; KELCH repeat [structural motif]

cd18341
Location:6 → 135

BTB_POZ_KLHL41_KBTBD10; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch-like protein 41 (KLHL41)