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    SMPX small muscle protein X-linked [ Homo sapiens (human) ]

    Gene ID: 23676, updated on 2-Nov-2024

    Summary

    Official Symbol
    SMPXprovided by HGNC
    Official Full Name
    small muscle protein X-linkedprovided by HGNC
    Primary source
    HGNC:HGNC:11122
    See related
    Ensembl:ENSG00000091482 MIM:300226; AllianceGenome:HGNC:11122
    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
    Csl; DFN6; MPD7; DFNX4; Chisel
    Summary
    This gene encodes a small protein that has no known functional domains. Mutations in this gene are a cause of X-linked deafness-4, and the encoded protein may play a role in the maintenance of inner ear cells subjected to mechanical stress. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2011]
    Expression
    Restricted expression toward heart (RPKM 174.8) See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SMPX in Genome Data Viewer
    Location:
    Xp22.12
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (21705978..21758116, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (21289285..21341420, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (21724096..21776234, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene connector enhancer of kinase suppressor of Ras 2 Neighboring gene retinoic acid receptor responder 2 pseudogene 3 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chrX:21704726-21705925 Neighboring gene kelch like family member 34 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29485 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29486 Neighboring gene Sharpr-MPRA regulatory region 3899 Neighboring gene membrane bound transcription factor peptidase, site 2 Neighboring gene uncharacterized LOC124905259 Neighboring gene YY2 transcription factor

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in striated muscle contraction TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in M band IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in costamere IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in muscle tendon junction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    small muscular protein
    Names
    deafness, X-linked 6, sensorineural
    stretch-responsive skeletal 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_031916.1 RefSeqGene

      Range
      5045..57183
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1358

    mRNA and Protein(s)

    1. NM_014332.3NP_055147.1  small muscular protein

      See identical proteins and their annotated locations for NP_055147.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the predominant transcript and is protein-coding.
      Source sequence(s)
      AF129505, AK312134
      Consensus CDS
      CCDS14200.1
      UniProtKB/Swiss-Prot
      B1AWX2, Q9UHP9
      Related
      ENSP00000368808.3, ENST00000379494.4
      Conserved Domains (1) summary
      pfam15355
      Location:387
      Chisel; Stretch-responsive small skeletal muscle X protein, Chisel

    RNA

    1. NR_045617.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK312134, AL772370, BF126275, BM674432

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      21705978..21758116 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047441939.1XP_047297895.1  small muscular protein isoform X1

      UniProtKB/Swiss-Prot
      B1AWX2, Q9UHP9
    2. XM_047441940.1XP_047297896.1  small muscular protein isoform X1

      UniProtKB/Swiss-Prot
      B1AWX2, Q9UHP9
      Related
      ENSP00000493671.1, ENST00000646008.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      21289285..21341420 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054326733.1XP_054182708.1  small muscular protein isoform X1

      UniProtKB/Swiss-Prot
      B1AWX2, Q9UHP9