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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
Complete GO annotation...

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

HGNCiHGNC:11122. SMPX.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

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

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

Polymorphism and mutation databases

BioMutaiSMPX.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 8888Small muscular proteinPRO_0000071978Add
BLAST

Proteomic databases

PaxDbiQ9UHP9.
PRIDEiQ9UHP9.

PTM databases

PhosphoSiteiQ9UHP9.

Expressioni

Tissue specificityi

Preferentially and abundantly expressed in heart and skeletal muscle.

Gene expression databases

BgeeiQ9UHP9.
CleanExiHS_SMPX.
ExpressionAtlasiQ9UHP9. baseline and differential.
GenevisibleiQ9UHP9. HS.

Interactioni

Protein-protein interaction databases

BioGridi117193. 3 interactions.
STRINGi9606.ENSP00000368808.

Structurei

3D structure databases

ProteinModelPortaliQ9UHP9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the SMPX family.Curated

Phylogenomic databases

eggNOGiENOG410J0I7. Eukaryota.
ENOG411286D. LUCA.
GeneTreeiENSGT00390000017542.
HOGENOMiHOG000120124.
HOVERGENiHBG059051.
InParanoidiQ9UHP9.
OMAiELRWVTK.
OrthoDBiEOG7M6DB6.
PhylomeDBiQ9UHP9.
TreeFamiTF338181.

Family and domain databases

InterProiIPR029268. Chisel.
[Graphical view]
PANTHERiPTHR17416. PTHR17416. 1 hit.
PfamiPF15355. Chisel. 1 hit.
[Graphical view]
ProDomiPD352676. PD352676. 1 hit.
[Graphical view] [Entries sharing at least one domain]

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. Translation: CAH71012.1.
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.

Cross-referencesi

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. Translation: CAH71012.1.
CH471074 Genomic DNA. Translation: EAW98980.1.
BC005948 mRNA. Translation: AAH05948.1.
CCDSiCCDS14200.1.
RefSeqiNP_055147.1. NM_014332.2.
UniGeneiHs.734084.
Hs.86492.

3D structure databases

ProteinModelPortaliQ9UHP9.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117193. 3 interactions.
STRINGi9606.ENSP00000368808.

PTM databases

PhosphoSiteiQ9UHP9.

Polymorphism and mutation databases

BioMutaiSMPX.

Proteomic databases

PaxDbiQ9UHP9.
PRIDEiQ9UHP9.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi23676.
GeneCardsiSMPX.
GeneReviewsiSMPX.
HGNCiHGNC:11122. SMPX.
MalaCardsiSMPX.
MIMi300066. phenotype.
300226. gene.
neXtProtiNX_Q9UHP9.
Orphaneti90625. X-linked non-syndromic sensorineural deafness type DFN.
PharmGKBiPA35971.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410J0I7. Eukaryota.
ENOG411286D. LUCA.
GeneTreeiENSGT00390000017542.
HOGENOMiHOG000120124.
HOVERGENiHBG059051.
InParanoidiQ9UHP9.
OMAiELRWVTK.
OrthoDBiEOG7M6DB6.
PhylomeDBiQ9UHP9.
TreeFamiTF338181.

Miscellaneous databases

GenomeRNAii23676.
PROiQ9UHP9.
SOURCEiSearch...

Gene expression databases

BgeeiQ9UHP9.
CleanExiHS_SMPX.
ExpressionAtlasiQ9UHP9. baseline and differential.
GenevisibleiQ9UHP9. HS.

Family and domain databases

InterProiIPR029268. Chisel.
[Graphical view]
PANTHERiPTHR17416. PTHR17416. 1 hit.
PfamiPF15355. Chisel. 1 hit.
[Graphical view]
ProDomiPD352676. PD352676. 1 hit.
[Graphical view] [Entries sharing at least one domain]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Identification, mapping, and genomic structure of a novel X-chromosomal human gene (SMPX) encoding a small muscular protein."
    Patzak D., Zhuchenko O., Lee C.-C., Wehnert M.
    Hum. Genet. 105:506-512(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  2. "Identification of a novel stretch-responsive skeletal muscle gene (Smpx)."
    Kemp T.J., Sadusky T.J., Simon M., Brown R., Eastwood M., Sassoon D.A., Coulton G.R.
    Genomics 72:260-271(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Skeletal muscle.
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Cerebellum.
  4. "The DNA sequence of the human X chromosome."
    Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
    , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
    Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Skeletal muscle.
  7. Cited for: INVOLVEMENT IN DFNX4.
  8. "Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment."
    Schraders M., Haas S.A., Weegerink N.J., Oostrik J., Hu H., Hoefsloot L.H., Kannan S., Huygen P.L., Pennings R.J., Admiraal R.J., Kalscheuer V.M., Kunst H.P., Kremer H.
    Am. J. Hum. Genet. 88:628-634(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN DFNX4.
  9. "A novel deletion in SMPX causes a rare form of X-linked progressive hearing loss in two families due to a founder effect."
    Abdelfatah N., Merner N., Houston J., Benteau T., Griffin A., Doucette L., Stockley T., Lauzon J.L., Young T.L.
    Hum. Mutat. 34:66-69(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN DFNX4.

Entry informationi

Entry nameiSMPX_HUMAN
AccessioniPrimary (citable) accession number: Q9UHP9
Secondary accession number(s): B1AWX2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: June 16, 2009
Last modified: June 8, 2016
This is version 109 of the entry and version 3 of the sequence. [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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.