SMPX_HUMAN
ID SMPX_HUMAN Reviewed; 88 AA.
AC Q9UHP9; B1AWX2;
DT 01-DEC-2000, integrated into UniProtKB/Swiss-Prot.
DT 16-JUN-2009, sequence version 3.
DT 03-AUG-2022, entry version 140.
DE RecName: Full=Small muscular protein;
DE AltName: Full=Stretch-responsive skeletal muscle protein;
GN Name=SMPX; Synonyms=SRMX;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA].
RX PubMed=10598820; DOI=10.1007/s004390051138;
RA Patzak D., Zhuchenko O., Lee C.-C., Wehnert M.;
RT "Identification, mapping, and genomic structure of a novel X-chromosomal
RT human gene (SMPX) encoding a small muscular protein.";
RL Hum. Genet. 105:506-512(1999).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Skeletal muscle;
RX PubMed=11401441; DOI=10.1006/geno.2000.6461;
RA Kemp T.J., Sadusky T.J., Simon M., Brown R., Eastwood M., Sassoon D.A.,
RA Coulton G.R.;
RT "Identification of a novel stretch-responsive skeletal muscle gene
RT (Smpx).";
RL Genomics 72:260-271(2001).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Cerebellum;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15772651; DOI=10.1038/nature03440;
RA Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D.,
RA Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L.,
RA Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.,
RA Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A.,
RA Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P.,
RA Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D.,
RA Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D.,
RA Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L.,
RA Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P.,
RA Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G.,
RA Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J.,
RA Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D.,
RA Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L.,
RA Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z.,
RA Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
RA Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S.,
RA Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O.,
RA Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H.,
RA Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T.,
RA Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L.,
RA Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R.,
RA Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y.,
RA Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K.,
RA Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J.,
RA Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L.,
RA Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S.,
RA Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A.,
RA Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L.,
RA Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D.,
RA Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H.,
RA McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S.,
RA Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C.,
RA Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S.,
RA Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V.,
RA Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K.,
RA Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K.,
RA Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D.,
RA Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R.,
RA Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B.,
RA Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C.,
RA d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q.,
RA Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N.,
RA Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A.,
RA Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J.,
RA Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A.,
RA Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F.,
RA Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L.,
RA Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S.,
RA Rogers J., Bentley D.R.;
RT "The DNA sequence of the human X chromosome.";
RL Nature 434:325-337(2005).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Skeletal muscle;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [7]
RP INVOLVEMENT IN DFNX4.
RX PubMed=21549336; DOI=10.1016/j.ajhg.2011.04.007;
RA Huebner A.K., Gandia M., Frommolt P., Maak A., Wicklein E.M., Thiele H.,
RA Altmuller J., Wagner F., Vinuela A., Aguirre L.A., Moreno F., Maier H.,
RA Rau I., Giesselmann S., Nurnberg G., Gal A., Nurnberg P., Hubner C.A.,
RA del Castillo I., Kurth I.;
RT "Nonsense mutations in SMPX, encoding a protein responsive to physical
RT force, result in X-chromosomal hearing loss.";
RL Am. J. Hum. Genet. 88:621-627(2011).
RN [8]
RP INVOLVEMENT IN DFNX4.
RX PubMed=21549342; DOI=10.1016/j.ajhg.2011.04.012;
RA Schraders M., Haas S.A., Weegerink N.J., Oostrik J., Hu H., Hoefsloot L.H.,
RA Kannan S., Huygen P.L., Pennings R.J., Admiraal R.J., Kalscheuer V.M.,
RA Kunst H.P., Kremer H.;
RT "Next-generation sequencing identifies mutations of SMPX, which encodes the
RT small muscle protein, X-linked, as a cause of progressive hearing
RT impairment.";
RL Am. J. Hum. Genet. 88:628-634(2011).
RN [9]
RP INVOLVEMENT IN DFNX4.
RX PubMed=22911656; DOI=10.1002/humu.22205;
RA Abdelfatah N., Merner N., Houston J., Benteau T., Griffin A., Doucette L.,
RA Stockley T., Lauzon J.L., Young T.L.;
RT "A novel deletion in SMPX causes a rare form of X-linked progressive
RT hearing loss in two families due to a founder effect.";
RL Hum. Mutat. 34:66-69(2013).
CC -!- FUNCTION: Plays a role in the regulatory network through which muscle
CC cells coordinate their structural and functional states during growth,
CC adaptation, and repair. {ECO:0000250}.
CC -!- TISSUE SPECIFICITY: Preferentially and abundantly expressed in heart
CC and skeletal muscle.
CC -!- DISEASE: Deafness, X-linked, 4 (DFNX4) [MIM:300066]: A non-syndromic
CC form of sensorineural, progressive hearing loss with postlingual onset.
CC In affected males, the auditory impairment affects initially high-
CC frequency hearing. It later evolves to become severe to profound and
CC affects all frequencies. Carrier females manifest moderate hearing
CC impairment in the high frequencies. {ECO:0000269|PubMed:21549336,
CC ECO:0000269|PubMed:21549342, ECO:0000269|PubMed:22911656}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- SIMILARITY: Belongs to the SMPX family. {ECO:0000305}.
CC -!- CAUTION: It is uncertain whether Met-1 or Met-3 is the initiator.
CC {ECO:0000305}.
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DR EMBL; AF129505; AAF19343.1; -; mRNA.
DR EMBL; AJ250584; CAC08492.1; -; mRNA.
DR EMBL; AK312134; BAG35070.1; -; mRNA.
DR EMBL; AL772370; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471074; EAW98980.1; -; Genomic_DNA.
DR EMBL; BC005948; AAH05948.1; -; mRNA.
DR CCDS; CCDS14200.1; -.
DR RefSeq; NP_055147.1; NM_014332.2.
DR AlphaFoldDB; Q9UHP9; -.
DR BioGRID; 117193; 3.
DR IntAct; Q9UHP9; 2.
DR STRING; 9606.ENSP00000368808; -.
DR iPTMnet; Q9UHP9; -.
DR PhosphoSitePlus; Q9UHP9; -.
DR BioMuta; SMPX; -.
DR MassIVE; Q9UHP9; -.
DR PaxDb; Q9UHP9; -.
DR PeptideAtlas; Q9UHP9; -.
DR PRIDE; Q9UHP9; -.
DR ProteomicsDB; 84395; -.
DR Antibodypedia; 24455; 93 antibodies from 22 providers.
DR DNASU; 23676; -.
DR Ensembl; ENST00000379494.4; ENSP00000368808.3; ENSG00000091482.8.
DR Ensembl; ENST00000494525.1; ENSP00000495170.1; ENSG00000091482.8.
DR Ensembl; ENST00000646008.1; ENSP00000493671.1; ENSG00000091482.8.
DR GeneID; 23676; -.
DR KEGG; hsa:23676; -.
DR MANE-Select; ENST00000379494.4; ENSP00000368808.3; NM_014332.3; NP_055147.1.
DR UCSC; uc004daa.4; human.
DR CTD; 23676; -.
DR DisGeNET; 23676; -.
DR GeneCards; SMPX; -.
DR GeneReviews; SMPX; -.
DR HGNC; HGNC:11122; SMPX.
DR HPA; ENSG00000091482; Group enriched (heart muscle, skeletal muscle, tongue).
DR MalaCards; SMPX; -.
DR MIM; 300066; phenotype.
DR MIM; 300226; gene.
DR neXtProt; NX_Q9UHP9; -.
DR OpenTargets; ENSG00000091482; -.
DR Orphanet; 90625; X-linked non-syndromic sensorineural deafness type DFN.
DR PharmGKB; PA35971; -.
DR VEuPathDB; HostDB:ENSG00000091482; -.
DR eggNOG; ENOG502S62J; Eukaryota.
DR GeneTree; ENSGT00390000017542; -.
DR HOGENOM; CLU_2512070_0_0_1; -.
DR InParanoid; Q9UHP9; -.
DR OMA; PPRKKEC; -.
DR OrthoDB; 1588044at2759; -.
DR PhylomeDB; Q9UHP9; -.
DR TreeFam; TF338181; -.
DR PathwayCommons; Q9UHP9; -.
DR SignaLink; Q9UHP9; -.
DR BioGRID-ORCS; 23676; 9 hits in 694 CRISPR screens.
DR GenomeRNAi; 23676; -.
DR Pharos; Q9UHP9; Tbio.
DR PRO; PR:Q9UHP9; -.
DR Proteomes; UP000005640; Chromosome X.
DR RNAct; Q9UHP9; protein.
DR Bgee; ENSG00000091482; Expressed in heart right ventricle and 121 other tissues.
DR ExpressionAtlas; Q9UHP9; baseline and differential.
DR Genevisible; Q9UHP9; HS.
DR GO; GO:0043034; C:costamere; IBA:GO_Central.
DR GO; GO:0031430; C:M band; IBA:GO_Central.
DR GO; GO:0005927; C:muscle tendon junction; IBA:GO_Central.
DR GO; GO:0005634; C:nucleus; IEA:Ensembl.
DR GO; GO:0006941; P:striated muscle contraction; TAS:ProtInc.
DR InterPro; IPR029268; Chisel.
DR PANTHER; PTHR17416; PTHR17416; 1.
DR Pfam; PF15355; Chisel; 1.
PE 2: Evidence at transcript level;
KW Deafness; Non-syndromic deafness; Reference proteome.
FT CHAIN 1..88
FT /note="Small muscular protein"
FT /id="PRO_0000071978"
FT REGION 22..66
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 36..59
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 88 AA; 9559 MW; CE33D2839F0F9EB7 CRC64;
MNMSKQPVSN VRAIQANINI PMGAFRPGAG QPPRRKECTP EVEEGVPPTS DEEKKPIPGA
KKLPGPAVNL SEIQNIKSEL KYVPKAEQ
