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

Gene ID: 23676, updated on 26-Aug-2014
Official Symbol
SMPXprovided by HGNC
Official Full Name
small muscle protein, X-linkedprovided by HGNC
Primary source
HGNC:11122
See related
Ensembl:ENSG00000091482; HPRD:02204; MIM:300066; MIM:300226; Vega:OTTHUMG00000021235
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]
See SMPX in Epigenomics, MapViewer
Location:
Xp22.1
Exon count:
6
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 kelch-like family member 34 Neighboring gene membrane-bound transcription factor peptidase, site 2 Neighboring gene YY2 transcription factor Neighboring gene cytohesin 1 pseudogene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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 IEA
Inferred from Electronic Annotation
more info
 
costamere IEA
Inferred from Electronic Annotation
more info
 
muscle tendon junction IEA
Inferred from Electronic Annotation
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
small muscular protein
Names
small muscular protein
deafness, X-linked 6, sensorineural
stretch-responsive skeletal muscle protein

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 

    Range
    5001..57189
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_014332.2NP_055147.1  small muscular protein

    See proteins identical to NP_055147.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the predominant transcript and is protein-coding.
    Source sequence(s)
    AF129505, AK312134, BM674432
    Consensus CDS
    CCDS14200.1
    UniProtKB/Swiss-Prot
    Q9UHP9
    Related
    ENSP00000368808, OTTHUMP00000023044, ENST00000379494, OTTHUMT00000056023
    Conserved Domains (1) summary
    pfam15355
    Location:388
    Blast Score: 289
    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 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000023.11 

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

Alternate HuRef

Genomic

  1. AC_000155.1 

    Range
    19465725..19517905
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 

    Range
    21754516..21806704
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)