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Protein

Small muscular protein

Gene

SMPX

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Functioni

Plays a role in the regulatory network through which muscle cells coordinate their structural and functional states during growth, adaptation, and repair.By similarity

GO - Biological processi

  • striated muscle contraction Source: ProtInc

Names & Taxonomyi

Protein namesi
Recommended name:
Small muscular protein
Alternative name(s):
Stretch-responsive skeletal muscle protein
Gene namesi
Name:SMPX
Synonyms:SRMX
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000091482.5.
HGNCiHGNC:11122. SMPX.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Pathology & Biotechi

Involvement in diseasei

Deafness, X-linked, 4 (DFNX4)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA non-syndromic form of sensorineural, progressive hearing loss with postlingual onset. In affected males, the auditory impairment affects initially high-frequency hearing. It later evolves to become severe to profound and affects all frequencies. Carrier females manifest moderate hearing impairment in the high frequencies.
See also OMIM:300066

Keywords - Diseasei

Deafness, Non-syndromic deafness

Organism-specific databases

DisGeNETi23676.
GeneReviewsiSMPX.
MalaCardsiSMPX.
MIMi300066. phenotype.
OpenTargetsiENSG00000091482.
Orphaneti90625. X-linked non-syndromic sensorineural deafness type DFN.
PharmGKBiPA35971.

Polymorphism and mutation databases

BioMutaiSMPX.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000719781 – 88Small muscular proteinAdd BLAST88

Proteomic databases

PaxDbiQ9UHP9.
PeptideAtlasiQ9UHP9.
PRIDEiQ9UHP9.

PTM databases

PhosphoSitePlusiQ9UHP9.

Expressioni

Tissue specificityi

Preferentially and abundantly expressed in heart and skeletal muscle.

Gene expression databases

BgeeiENSG00000091482.
CleanExiHS_SMPX.
ExpressionAtlasiQ9UHP9. baseline and differential.
GenevisibleiQ9UHP9. HS.

Interactioni

Protein-protein interaction databases

BioGridi117193. 3 interactors.
STRINGi9606.ENSP00000368808.

Structurei

3D structure databases

ProteinModelPortaliQ9UHP9.
SMRiQ9UHP9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the SMPX family.Curated

Phylogenomic databases

eggNOGiENOG410J0I7. Eukaryota.
ENOG411286D. LUCA.
GeneTreeiENSGT00390000017542.
HOGENOMiHOG000120124.
HOVERGENiHBG059051.
InParanoidiQ9UHP9.
OMAiNLNIPMG.
OrthoDBiEOG091G1451.
PhylomeDBiQ9UHP9.
TreeFamiTF338181.

Family and domain databases

InterProiView protein in InterPro
IPR029268. Chisel.
PANTHERiPTHR17416. PTHR17416. 1 hit.
PfamiView protein in Pfam
PF15355. Chisel. 1 hit.
ProDomiView protein in ProDom or Entries sharing at least one domain
PD352676. PD352676. 1 hit.

Sequencei

Sequence statusi: Complete.

Q9UHP9-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MNMSKQPVSN VRAIQANINI PMGAFRPGAG QPPRRKECTP EVEEGVPPTS
60 70 80
DEEKKPIPGA KKLPGPAVNL SEIQNIKSEL KYVPKAEQ
Length:88
Mass (Da):9,559
Last modified:June 16, 2009 - v3
Checksum:iCE33D2839F0F9EB7
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF129505 mRNA. Translation: AAF19343.1.
AJ250584 mRNA. Translation: CAC08492.1.
AK312134 mRNA. Translation: BAG35070.1.
AL772370 Genomic DNA. No translation available.
CH471074 Genomic DNA. Translation: EAW98980.1.
BC005948 mRNA. Translation: AAH05948.1.
CCDSiCCDS14200.1.
RefSeqiNP_055147.1. NM_014332.2.
UniGeneiHs.734084.
Hs.86492.

Genome annotation databases

EnsembliENST00000379494; ENSP00000368808; ENSG00000091482.
GeneIDi23676.
KEGGihsa:23676.
UCSCiuc004daa.4. human.

Similar proteinsi

Entry informationi

Entry nameiSMPX_HUMAN
AccessioniPrimary (citable) accession number: Q9UHP9
Secondary accession number(s): B1AWX2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: June 16, 2009
Last modified: September 27, 2017
This is version 117 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Caution

It is uncertain whether Met-1 or Met-3 is the initiator.Curated

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families