Details for: SMPX

Gene ID: 23676

Symbol: SMPX

Ensembl ID: ENSG00000091482

Description: small muscle protein X-linked

Associated with

Other Information

Genular Protein ID: 106215528

Symbol: SMPX_HUMAN

Name: Small muscular protein

UniProtKB Accession Codes:

Q9UHP9 B1AWX2

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 DNASU 1 DisGeNET 1 EMBL 6 Ensembl 3 ExpressionAtlas 1 GO 5 GeneCards 1 GeneReviews 1 GeneTree 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 1 KEGG 1 MANE-Select 1 MIM 5 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 RefSeq 1 SAM 1 STRING 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 10598820

Title: Identification, mapping, and genomic structure of a novel X-chromosomal human gene (SMPX) encoding a small muscular protein.

PubMed ID: 10598820

DOI: 10.1007/s004390051138

PubMed ID: 11401441

Title: Identification of a novel stretch-responsive skeletal muscle gene (Smpx).

PubMed ID: 11401441

DOI: 10.1006/geno.2000.6461

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 21549336

Title: Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss.

PubMed ID: 21549336

DOI: 10.1016/j.ajhg.2011.04.007

PubMed ID: 21549342

Title: Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment.

PubMed ID: 21549342

DOI: 10.1016/j.ajhg.2011.04.012

PubMed ID: 22911656

Title: A novel deletion in SMPX causes a rare form of X-linked progressive hearing loss in two families due to a founder effect.

PubMed ID: 22911656

DOI: 10.1002/humu.22205

PubMed ID: 33974137

Title: Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions.

PubMed ID: 33974137

DOI: 10.1007/s00401-021-02319-x

Sequence Information:

  • Length: 88
  • Mass: 9559
  • Checksum: CE33D2839F0F9EB7
  • Sequence:
    • MNMSKQPVSN VRAIQANINI PMGAFRPGAG QPPRRKECTP EVEEGVPPTS DEEKKPIPGA 
KKLPGPAVNL SEIQNIKSEL KYVPKAEQ

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.