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

    Gene ID: 10324, updated on 17-Jun-2024

    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
    NEW
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    Genomic context

    See KLHL41 in Genome Data Viewer
    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_000002.12Genomic Context describing neighboring genes Neighboring gene NANOG hESC enhancer GRCh37_chr2:169992762-169993275 Neighboring gene Sharpr-MPRA regulatory region 15259 Neighboring gene LDL receptor related protein 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:170164967-170165129 Neighboring gene MPRA-validated peak3915 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr2:170213948-170214132 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:170218895-170219528 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:170219529-170220162 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:170308062-170308217 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16737 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16738 Neighboring gene MPRA-validated peak3917 silencer Neighboring gene Bardet-Biedl syndrome 5 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:170393950-170394098 Neighboring gene FAST kinase domains 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:170429982-170430584 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16741 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 Apr 4 07:08:55 2018

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: BBS5

    Clone Names

    • FLJ60989

    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

    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)

    NEW Try the new Transcript table

    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..21557
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_006063.3NP_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:39578
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:388433
      Kelch; KELCH repeat [structural motif]
      cd18341
      Location:6135
      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)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      169509702..169526258
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      169986941..170003489
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)