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

Gene ID: 10324, updated on 12-Aug-2018

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; Vega:OTTHUMG00000132205
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

Genomic context

See KLHL41 in Genome Data Viewer
Location:
2q31.1
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (169509702..169526262)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (170366212..170382772)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene LDL receptor related protein 2 Neighboring gene Bardet-Biedl syndrome 5 Neighboring gene FAST kinase domains 1 Neighboring gene peptidylprolyl isomerase G

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

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

Pathways from BioSystems

  • Adaptive Immune System, organism-specific biosystem (from REACTOME)
    Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
  • Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystem (from REACTOME)
    Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystemIntracellular foreign or aberrant host proteins are cleaved into peptide fragments of a precise size, such that they can be loaded on to class I MHC molecules and presented externally to cytotoxic T ...
  • Class I MHC mediated antigen processing & presentation, organism-specific biosystem (from REACTOME)
    Class I MHC mediated antigen processing & presentation, organism-specific biosystemMajor histocompatibility complex (MHC) class I molecules play an important role in cell mediated immunity by reporting on intracellular events such as viral infection, the presence of intracellular b...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: BBS5

Homology

Clone Names

  • FLJ60989

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
myofibril assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
post-translational protein modification TAS
Traceable Author Statement
more info
 
protein ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
regulation of lateral pseudopodium assembly IEA
Inferred from Electronic Annotation
more info
 
regulation of myoblast differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of myoblast differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of myoblast proliferation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of myoblast proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of skeletal muscle cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
skeletal muscle cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
striated muscle contraction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
Cul3-RING ubiquitin ligase complex IDA
Inferred from Direct Assay
more info
PubMed 
M band IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
M band ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoskeleton ISS
Inferred from Sequence or Structural Similarity
more info
 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 
pseudopodium IEA
Inferred from Electronic Annotation
more info
 
ruffle IEA
Inferred from Electronic Annotation
more info
 
sarcoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sarcoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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)

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

  1. NG_042051.1 RefSeqGene

    Range
    5001..21561
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_006063.2NP_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
    Related
    ENSP00000284669.1, OTTHUMP00000163060, ENST00000284669.1, OTTHUMT00000255263
    Conserved Domains (2) summary
    sd00038
    Location:388433
    Kelch; KELCH repeat [structural motif]
    cl28614
    Location:39578
    BTB; Broad-Complex, Tramtrack and Bric a brac

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    169509702..169526262
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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