KLHL40 kelch like family member 40 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KLHL40provided by HGNC
Official Full Name: kelch like family member 40provided by HGNC
Primary source: HGNC:HGNC:30372
See related: Ensembl:ENSG00000157119 MIM:615340; AllianceGenome:HGNC:30372
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: NEM8; SRYP; SYRP; KBTBD5
Summary: This gene encodes a protein containing a BACK domain, a BTB/POZ domain, and 5 Kelch repeats, however, its exact function is not known. The gene and the multi-domain protein structure are conserved across different taxa, including primates, rodents, chicken and zebrafish. [provided by RefSeq, Dec 2012]
Expression: Biased expression in prostate (RPKM 4.0), esophagus (RPKM 2.3) and 2 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3p22.1

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (42685537..42692544)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (42703548..42710555)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (42727029..42734036)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Clinical and molecular analysis of four unrelated Chinese families with pathogenic KLHL40 variants causing nemaline myopathy 8.
Title: Clinical and molecular analysis of four unrelated Chinese families with pathogenic KLHL40 variants causing nemaline myopathy 8.
A novel and recurrent KLHL40 pathogenic variants in a Chinese family of multiple affected neonates with nemaline myopathy 8.
Title: A novel and recurrent KLHL40 pathogenic variants in a Chinese family of multiple affected neonates with nemaline myopathy 8.
The KLHL40 c.1516A>C is a Chinese-specific founder mutation causing nemaline myopathy 8: Report of six patients with pre- and postnatal phenotypes.
Title: The KLHL40 c.1516A>C is a Chinese-specific founder mutation causing nemaline myopathy 8: Report of six patients with pre- and postnatal phenotypes.
Two compound heterozygous mutations; c.602G > A(p.W201*) and c.1516A > C(p.T506P), in the Kelch-like 40 (KLHL40) gene were discovered in a family with 3 fetuses affected by fetal akinesia deformation sequence.
Title: Identification of KLHL40 mutations by targeted next-generation sequencing facilitated a prenatal diagnosis in a family with three consecutive affected fetuses with fetal akinesia deformation sequence.
NEB and LMOD3 were reduced in skeletal muscle of KLHL40-deficient patients, providing a potential basis for the development of nemaline myopathy.
Title: KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy.
KLHL40 mutations as a frequent cause of severe autosomal-recessive nemaline myopathy. It plays a key role in muscle development and function.
Title: Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.

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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 8 MedGen: C3809209 OMIM: 615348 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D3S2783E (e-PCR)
- UniSTS:17697

KBTBD5_8141 (e-PCR)
- UniSTS:471471

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin-like ligase-substrate adaptor activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in negative regulation of proteasomal ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of protein ubiquitination	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of proteasomal ubiquitin-dependent protein catabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of protein ubiquitination	ISS Inferred from Sequence or Structural Similarity more info
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in skeletal muscle fiber development	IBA Inferred from Biological aspect of Ancestor more info
involved_in skeletal muscle fiber development	ISS Inferred from Sequence or Structural Similarity more info
involved_in skeletal muscle fiber differentiation	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in A band	IBA Inferred from Biological aspect of Ancestor more info
part_of Cul3-RING ubiquitin ligase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of Cul3-RING ubiquitin ligase complex	ISS Inferred from Sequence or Structural Similarity more info
is_active_in I band	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: kelch-like protein 40

Names: kelch repeat and BTB (POZ) domain containing 5; kelch repeat and BTB domain-containing protein 5; nemaline myopathy type 8; sarcosynapsin

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_033035.1 RefSeqGene

Range

5019..12026

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_152393.4 → NP_689606.2 kelch-like protein 40

See identical proteins and their annotated locations for NP_689606.2

Status: VALIDATED

Source sequence(s)

AI274020, AK291294, AW445105, AY177390, KC876887

Consensus CDS

CCDS2703.1

UniProtKB/Swiss-Prot

Q2TBA0, Q86SI1, Q96MR2

UniProtKB/TrEMBL

A8K5H9

Related

ENSP00000287777.4, ENST00000287777.5

Conserved Domains (6) summary

smart00612
Location:463 → 510

Kelch; Kelch domain

PHA03098
Location:47 → 551

PHA03098; kelch-like protein; Provisional

sd00038
Location:402 → 448

Kelch; KELCH repeat [structural motif]

pfam00651
Location:23 → 125

BTB; BTB/POZ domain

pfam01344
Location:499 → 537

Kelch_1; Kelch motif

pfam07707
Location:133 → 239

BACK; BTB And C-terminal Kelch