SMPX

Protein identityUniProt · HPA

UniProt accession

Q9UHP9

Gene

SMPX

Ensembl

ENSG00000091482

Chromosome

X

Canonical length

88 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Plasma membrane

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

88 residues, UniProt reviewed canonical sequence.

>Q9UHP9|SMPX
     1  MNMSKQPVSN VRAIQANINI PMGAFRPGAG QPPRRKECTP EVEEGVPPTS DEEKKPIPGA
    61  KKLPGPAVNL SEIQNIKSEL KYVPKAEQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SMPX can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.69

Highest tissue expression

1,109 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SMPX.

Disease | AllUniProt

Conditions SMPX is implicated in, by any mechanism.

• Deafness, X-linked, 4 (DFNX4) MIM:300066
• Myopathy, distal, 7, adult-onset, X-linked (MPD7) MIM:301075

Disease | GeneticClinVar

23 pathogenic / likely-pathogenic of 102 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Hearing loss, X-linked 4
• Myopathy, distal, 7, adult-onset, X-linked
• X-linked deafness
• Hearing impairment
• SMPX-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.95

gnomAD pLI

0.62

gnomAD missense Z

-0.04

DepMap mean gene effect

0.07

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• striated muscle contraction

Cellular components

• costamere
• M band
• muscle tendon junction
• nucleus

Protein domainsUniProt · Pfam · InterPro

• Small muscular protein Chisel
• Stretch-responsive small skeletal muscle X protein, Chisel

KeywordsUniProt

• Deafness
• Non-syndromic deafness