SSPN_HUMAN
ID SSPN_HUMAN Reviewed; 243 AA.
AC Q14714; B3KS67;
DT 27-APR-2001, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2000, sequence version 3.
DT 03-AUG-2022, entry version 165.
DE RecName: Full=Sarcospan;
DE AltName: Full=K-ras oncogene-associated protein;
DE AltName: Full=Kirsten-ras-associated protein;
GN Name=SSPN; Synonyms=KRAG;
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] (ISOFORM 2).
RC TISSUE=Skeletal muscle;
RX PubMed=9395445; DOI=10.1074/jbc.272.50.31221;
RA Crosbie R.H., Heighway J., Venzke D.P., Lee J.C., Campbell K.P.;
RT "Sarcospan, the 25-kDa transmembrane component of the dystrophin-
RT glycoprotein complex.";
RL J. Biol. Chem. 272:31221-31224(1997).
RN [2]
RP SEQUENCE REVISION.
RA Crosbie R.H., Heighway J., Venzke D.P., Campbell K.P.;
RL Submitted (APR-2000) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=Spleen;
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=16541075; DOI=10.1038/nature04569;
RA Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y.,
RA Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C.,
RA Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C.,
RA Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R.,
RA Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E.,
RA Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y.,
RA Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G.,
RA Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H.,
RA Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S.,
RA Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M.,
RA Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H.,
RA Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q.,
RA Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V.,
RA Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E.,
RA Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K.,
RA Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D.,
RA Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R.,
RA David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E.,
RA D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N.,
RA Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N.,
RA Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R.,
RA Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S.,
RA LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H.,
RA Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P.,
RA Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G.,
RA Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E.,
RA Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S.,
RA Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O.,
RA Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J.,
RA Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A.,
RA Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M.,
RA Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I.,
RA Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A.,
RA Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y.,
RA Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A.,
RA Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F.,
RA Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L.,
RA Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G.,
RA Gibbs R.A.;
RT "The finished DNA sequence of human chromosome 12.";
RL Nature 440:346-351(2006).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Testis;
RX PubMed=11230166; DOI=10.1101/gr.gr1547r;
RA Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S.,
RA Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J.,
RA Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W.,
RA Ottenwaelder B., Obermaier B., Tampe J., Heubner D., Wambutt R., Korn B.,
RA Klein M., Poustka A.;
RT "Towards a catalog of human genes and proteins: sequencing and analysis of
RT 500 novel complete protein coding human cDNAs.";
RL Genome Res. 11:422-435(2001).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Eye;
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 NUCLEOTIDE SEQUENCE [MRNA] OF 27-243 (ISOFORM 1).
RC TISSUE=Brain, and Lung;
RX PubMed=8661122; DOI=10.1006/geno.1996.0340;
RA Heighway J., Betticher D.C., Hoban P.R., Altermatt H.J., Cowen R.;
RT "Coamplification in tumors of KRAS2, type 2 inositol 1,4,5 triphosphate
RT receptor gene, and a novel human gene, KRAG.";
RL Genomics 35:207-214(1996).
CC -!- FUNCTION: Component of the dystrophin-glycoprotein complex (DGC), a
CC complex that spans the muscle plasma membrane and forms a link between
CC the F-actin cytoskeleton and the extracellular matrix. Preferentially
CC associates with the sarcoglycan subcomplex of the DGC.
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Multi-pass membrane
CC protein {ECO:0000250}. Cell membrane, sarcolemma {ECO:0000250}.
CC Postsynaptic cell membrane {ECO:0000250}; Multi-pass membrane protein
CC {ECO:0000250}. Note=Also found in myotendinous junctions and in the
CC postsynaptic membrane of neuromuscular junctions. {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1; Synonyms=SPN1;
CC IsoId=Q14714-1; Sequence=Displayed;
CC Name=2; Synonyms=SPN2;
CC IsoId=Q14714-2; Sequence=VSP_004431;
CC Name=3;
CC IsoId=Q14714-3; Sequence=VSP_046351;
CC -!- TISSUE SPECIFICITY: Isoform 1 is expressed exclusively in heart and
CC skeletal muscle. Isoform 2 is expressed in heart, skeletal muscle,
CC thymus, prostate, testis, ovary, small intestine, colon and spleen.
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DR EMBL; AF016028; AAC61660.2; -; mRNA.
DR EMBL; AL136756; CAB66690.1; -; mRNA.
DR EMBL; AK092925; BAG52629.1; -; mRNA.
DR EMBL; AC022509; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC055720; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC062299; AAH62299.1; -; mRNA.
DR EMBL; X89105; CAA61479.1; -; mRNA.
DR CCDS; CCDS44850.1; -. [Q14714-3]
DR CCDS; CCDS8707.1; -. [Q14714-1]
DR PIR; S57712; S57712.
DR RefSeq; NP_001129295.1; NM_001135823.1. [Q14714-3]
DR RefSeq; NP_005077.2; NM_005086.4. [Q14714-1]
DR RefSeq; XP_011519155.1; XM_011520853.2. [Q14714-3]
DR RefSeq; XP_011519156.1; XM_011520854.2. [Q14714-3]
DR RefSeq; XP_011519157.1; XM_011520855.2. [Q14714-3]
DR AlphaFoldDB; Q14714; -.
DR BioGRID; 113755; 3.
DR CORUM; Q14714; -.
DR IntAct; Q14714; 2.
DR MINT; Q14714; -.
DR STRING; 9606.ENSP00000242729; -.
DR iPTMnet; Q14714; -.
DR PhosphoSitePlus; Q14714; -.
DR SwissPalm; Q14714; -.
DR BioMuta; SSPN; -.
DR DMDM; 13431900; -.
DR jPOST; Q14714; -.
DR MassIVE; Q14714; -.
DR PaxDb; Q14714; -.
DR PeptideAtlas; Q14714; -.
DR PRIDE; Q14714; -.
DR ProteomicsDB; 3623; -.
DR ProteomicsDB; 60142; -. [Q14714-1]
DR ProteomicsDB; 60143; -. [Q14714-2]
DR Antibodypedia; 24301; 67 antibodies from 20 providers.
DR DNASU; 8082; -.
DR Ensembl; ENST00000242729.7; ENSP00000242729.2; ENSG00000123096.12. [Q14714-1]
DR Ensembl; ENST00000422622.3; ENSP00000396087.2; ENSG00000123096.12. [Q14714-3]
DR Ensembl; ENST00000540266.5; ENSP00000442893.1; ENSG00000123096.12. [Q14714-3]
DR GeneID; 8082; -.
DR KEGG; hsa:8082; -.
DR MANE-Select; ENST00000242729.7; ENSP00000242729.2; NM_005086.5; NP_005077.2.
DR UCSC; uc001rhd.4; human. [Q14714-1]
DR CTD; 8082; -.
DR DisGeNET; 8082; -.
DR GeneCards; SSPN; -.
DR HGNC; HGNC:11322; SSPN.
DR HPA; ENSG00000123096; Tissue enhanced (tongue).
DR MIM; 601599; gene.
DR neXtProt; NX_Q14714; -.
DR OpenTargets; ENSG00000123096; -.
DR PharmGKB; PA36146; -.
DR VEuPathDB; HostDB:ENSG00000123096; -.
DR eggNOG; ENOG502RYPH; Eukaryota.
DR GeneTree; ENSGT00390000007747; -.
DR HOGENOM; CLU_1271931_0_0_1; -.
DR InParanoid; Q14714; -.
DR OMA; ALDSCQC; -.
DR OrthoDB; 1462432at2759; -.
DR PhylomeDB; Q14714; -.
DR TreeFam; TF332100; -.
DR PathwayCommons; Q14714; -.
DR SignaLink; Q14714; -.
DR SIGNOR; Q14714; -.
DR BioGRID-ORCS; 8082; 11 hits in 1071 CRISPR screens.
DR ChiTaRS; SSPN; human.
DR GenomeRNAi; 8082; -.
DR Pharos; Q14714; Tbio.
DR PRO; PR:Q14714; -.
DR Proteomes; UP000005640; Chromosome 12.
DR RNAct; Q14714; protein.
DR Bgee; ENSG00000123096; Expressed in synovial joint and 208 other tissues.
DR ExpressionAtlas; Q14714; baseline and differential.
DR Genevisible; Q14714; HS.
DR GO; GO:0070161; C:anchoring junction; IEA:UniProtKB-KW.
DR GO; GO:0016010; C:dystrophin-associated glycoprotein complex; TAS:ProtInc.
DR GO; GO:0005887; C:integral component of plasma membrane; TAS:ProtInc.
DR GO; GO:0045211; C:postsynaptic membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0042383; C:sarcolemma; IBA:GO_Central.
DR GO; GO:0030133; C:transport vesicle; IDA:LIFEdb.
DR GO; GO:0007155; P:cell adhesion; TAS:ProtInc.
DR GO; GO:0006936; P:muscle contraction; TAS:ProtInc.
DR InterPro; IPR007237; CD20-like.
DR InterPro; IPR030429; Sarcospan.
DR PANTHER; PTHR15260; PTHR15260; 1.
DR Pfam; PF04103; CD20; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Cell membrane; Membrane; Postsynaptic cell membrane;
KW Reference proteome; Synapse; Transmembrane; Transmembrane helix.
FT CHAIN 1..243
FT /note="Sarcospan"
FT /id="PRO_0000072226"
FT TOPO_DOM 1..53
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 54..74
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 75..86
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 87..107
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 108..122
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 123..143
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 144..193
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 194..214
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 215..243
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT REGION 1..43
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 24..43
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..103
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_046351"
FT VAR_SEQ 108..218
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:11230166,
FT ECO:0000303|PubMed:9395445"
FT /id="VSP_004431"
FT VARIANT 186
FT /note="S -> N (in dbSNP:rs12313670)"
FT /id="VAR_051384"
FT VARIANT 228
FT /note="V -> I (in dbSNP:rs12313736)"
FT /id="VAR_051385"
FT CONFLICT 13
FT /note="Missing (in Ref. 1)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 243 AA; 26618 MW; 0D6B24B9848253F9 CRC64;
MGKNKQPRGQ QRQGGPPAAD AAGPDDMEPK KGTGAPKECG EEEPRTCCGC RFPLLLALLQ
LALGIAVTVV GFLMASISSS LLVRDTPFWA GIIVCLVAYL GLFMLCVSYQ VDERTCIQFS
MKLLYFLLSA LGLTVCVLAV AFAAHHYSQL TQFTCETTLD SCQCKLPSSE PLSRTFVYRD
VTDCTSVTGT FKLFLLIQMI LNLVCGLVCL LACFVMWKHR YQVFYVGVRI CSLTASEGPQ
QKI
