Format

Send to:

Choose Destination

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

Gene ID: 23676, updated on 13-Feb-2019

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:300066; MIM:300226
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
DFN6; DFNX4
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

Genomic context

See SMPX in Genome Data Viewer
Location:
Xp22.12
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) X NC_000023.11 (21705972..21758160, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (21724090..21776278, 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 kelch like family member 34 Neighboring gene membrane bound transcription factor peptidase, site 2 Neighboring gene YY2 transcription factor Neighboring gene cytohesin 1 pseudogene

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

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
striated muscle contraction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
M band IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
costamere IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
muscle tendon junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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)

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
    Q9UHP9
    UniProtKB/TrEMBL
    A0A024RBY1
    Related
    ENSP00000368808.3, ENST00000379494.3
    Conserved Domains (1) summary
    pfam15355
    Location:385
    Chisel; Stretch-responsive small skeletal muscle X protein, Chisel

RNA

  1. NR_045617.1 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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

    Range
    21705972..21758160 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center