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Tetraspanin-7 (Tspan-7) (Cell surface glycoprotein A15) (Membrane component chromosome X surface marker 1) (T-cell acute lymphoblastic leukemia-associated antigen 1) (TALLA-1) (Transmembrane 4 superfamily member 2) (CD antigen CD231)

 TSN7_HUMAN              Reviewed;         249 AA.
P41732; B2R5W7; D3DWB1; Q8WVG5; Q9UEY9;
01-NOV-1995, integrated into UniProtKB/Swiss-Prot.
16-NOV-2001, sequence version 2.
20-JUN-2018, entry version 172.
RecName: Full=Tetraspanin-7;
Short=Tspan-7;
AltName: Full=Cell surface glycoprotein A15;
AltName: Full=Membrane component chromosome X surface marker 1;
AltName: Full=T-cell acute lymphoblastic leukemia-associated antigen 1;
Short=TALLA-1;
AltName: Full=Transmembrane 4 superfamily member 2;
AltName: CD_antigen=CD231;
Name=TSPAN7; Synonyms=A15, DXS1692E, MXS1, TM4SF2;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Peripheral blood lymphocyte;
PubMed=8420826; DOI=10.1007/BF00191884;
Emi N., Kitaori K., Seto M., Ueda R., Saito H., Takahashi T.;
"Isolation of a novel cDNA clone showing marked similarity to
ME491/CD63 superfamily.";
Immunogenetics 37:193-198(1993).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Brain cortex;
PubMed=14702039; DOI=10.1038/ng1285;
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.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
Venter J.C.;
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
[4]
NUCLEOTIDE SEQUENCE [MRNA] OF 4-249.
TISSUE=Peripheral blood;
PubMed=7768645; DOI=10.1002/ijc.2910610519;
Takagi S., Fujikawa K., Imai T., Fukuhara N., Fukudome K.,
Minegishi M., Tsuchiya S., Konno T., Hinuma Y., Yoshie O.;
"Identification of a highly specific surface marker of T-cell acute
lymphoblastic leukemia and neuroblastoma as a new member of the
transmembrane 4 superfamily.";
Int. J. Cancer 61:706-715(1995).
[5]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT MRX58 HIS-172.
PubMed=10655063; DOI=10.1038/72829;
Zemni R., Bienvenu T., Vinet M.C., Sefiani A., Carrie A., Billuart P.,
McDonell N., Couvert P., Francis F., Chafey P., Fauchereau F.,
Friocourt G., desPortes V., Cardona A., Frints S., Meindl A.,
Brandau O., Ronce N., Moraine C., Bokhoven H.V., Ropers H.-H.,
Sudbrak R., Kahn A., Fryns J.-P., Beldjord C., Chelly J.;
"A new gene involved in X-linked mental retardation identified by
analysis of an X;2 balanced translocation.";
Nat. Genet. 24:167-170(2000).
[6]
NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Brain;
Wang H., Gao X., Huang Y., Han J.;
"Homo sapiens transmembrane 4 superfamily member 2 (TM4SF2,
tetraspanins), mRNA.";
Submitted (MAY-2001) to the EMBL/GenBank/DDBJ databases.
[7]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS LYS-53 AND
THR-127.
TISSUE=Brain;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[8]
INTERACTION WITH HHV-1 UL35.
PubMed=20630051; DOI=10.1186/1743-422X-7-156;
Wang L., Liu L., Che Y., Wang L., Jiang L., Dong C., Zhang Y., Li Q.;
"Egress of HSV-1 capsid requires the interaction of VP26 and a
cellular tetraspanin membrane protein.";
Virol. J. 7:156-156(2010).
-!- FUNCTION: May be involved in cell proliferation and cell motility.
-!- SUBUNIT: Interacts with herpes simplex virus 1 (HHV-1) UL35.
{ECO:0000269|PubMed:20630051}.
-!- SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
-!- TISSUE SPECIFICITY: Not solely expressed in T-cells. Expressed in
acute myelocytic leukemia cells of some patients.
-!- DISEASE: Mental retardation, X-linked 58 (MRX58) [MIM:300210]: A
disorder characterized by significantly below average general
intellectual functioning associated with impairments in adaptive
behavior and manifested during the developmental period.
Intellectual deficiency is the only primary symptom of non-
syndromic X-linked mental retardation, while syndromic mental
retardation presents with associated physical, neurological and/or
psychiatric manifestations. {ECO:0000269|PubMed:10655063}.
Note=The disease is caused by mutations affecting the gene
represented in this entry.
-!- SIMILARITY: Belongs to the tetraspanin (TM4SF) family.
{ECO:0000305}.
-!- SEQUENCE CAUTION:
Sequence=BAA01501.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Sequence=BAA06191.1; Type=Erroneous initiation; Evidence={ECO:0000305};
-----------------------------------------------------------------------
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EMBL; D10653; BAA01501.1; ALT_INIT; mRNA.
EMBL; AK312343; BAG35264.1; -; mRNA.
EMBL; CH471141; EAW59437.1; -; Genomic_DNA.
EMBL; D29808; BAA06191.1; ALT_INIT; mRNA.
EMBL; AJ250562; CAB65594.1; -; Genomic_DNA.
EMBL; AJ250563; CAB65594.1; JOINED; Genomic_DNA.
EMBL; AJ250564; CAB65594.1; JOINED; Genomic_DNA.
EMBL; AJ250565; CAB65594.1; JOINED; Genomic_DNA.
EMBL; AJ250566; CAB65594.1; JOINED; Genomic_DNA.
EMBL; AJ250567; CAB65594.1; JOINED; Genomic_DNA.
EMBL; AJ250568; CAB65594.1; JOINED; Genomic_DNA.
EMBL; AB062057; BAB55825.1; -; mRNA.
EMBL; AB062057; BAB55824.1; -; mRNA.
EMBL; CH471141; EAW59438.1; -; Genomic_DNA.
EMBL; BC018036; AAH18036.1; -; mRNA.
CCDS; CCDS14248.1; -.
PIR; I39368; I39368.
RefSeq; NP_004606.2; NM_004615.3.
UniGene; Hs.441664; -.
ProteinModelPortal; P41732; -.
SMR; P41732; -.
BioGrid; 112957; 7.
IntAct; P41732; 3.
MINT; P41732; -.
STRING; 9606.ENSP00000367743; -.
TCDB; 8.A.40.1.2; the tetraspanin (tetraspanin) family.
iPTMnet; P41732; -.
PhosphoSitePlus; P41732; -.
SwissPalm; P41732; -.
BioMuta; TSPAN7; -.
DMDM; 17380550; -.
MaxQB; P41732; -.
PaxDb; P41732; -.
PeptideAtlas; P41732; -.
PRIDE; P41732; -.
ProteomicsDB; 55476; -.
DNASU; 7102; -.
Ensembl; ENST00000378482; ENSP00000367743; ENSG00000156298.
GeneID; 7102; -.
KEGG; hsa:7102; -.
UCSC; uc004deg.5; human.
CTD; 7102; -.
DisGeNET; 7102; -.
EuPathDB; HostDB:ENSG00000156298.12; -.
GeneCards; TSPAN7; -.
HGNC; HGNC:11854; TSPAN7.
HPA; CAB062566; -.
HPA; CAB068245; -.
HPA; HPA003140; -.
MalaCards; TSPAN7; -.
MIM; 300096; gene.
MIM; 300210; phenotype.
neXtProt; NX_P41732; -.
OpenTargets; ENSG00000156298; -.
Orphanet; 777; X-linked non-syndromic intellectual disability.
PharmGKB; PA36555; -.
eggNOG; KOG3882; Eukaryota.
eggNOG; ENOG4111IRY; LUCA.
GeneTree; ENSGT00880000137851; -.
HOGENOM; HOG000230656; -.
HOVERGEN; HBG107306; -.
InParanoid; P41732; -.
KO; K06571; -.
PhylomeDB; P41732; -.
TreeFam; TF352891; -.
Reactome; R-HSA-202733; Cell surface interactions at the vascular wall.
Reactome; R-HSA-416993; Trafficking of GluR2-containing AMPA receptors.
ChiTaRS; TSPAN7; human.
GeneWiki; TSPAN7; -.
GenomeRNAi; 7102; -.
PRO; PR:P41732; -.
Proteomes; UP000005640; Chromosome X.
Bgee; ENSG00000156298; -.
CleanEx; HS_TSPAN7; -.
ExpressionAtlas; P41732; baseline and differential.
Genevisible; P41732; HS.
GO; GO:0005887; C:integral component of plasma membrane; TAS:ProtInc.
GO; GO:0007166; P:cell surface receptor signaling pathway; IBA:GO_Central.
GO; GO:0016032; P:viral process; IEA:UniProtKB-KW.
Gene3D; 1.10.1450.10; -; 1.
InterPro; IPR000301; Tetraspanin.
InterPro; IPR018499; Tetraspanin/Peripherin.
InterPro; IPR018503; Tetraspanin_CS.
InterPro; IPR008952; Tetraspanin_EC2_sf.
Pfam; PF00335; Tetraspannin; 1.
PIRSF; PIRSF002419; Tetraspanin; 1.
PRINTS; PR00259; TMFOUR.
SUPFAM; SSF48652; SSF48652; 1.
PROSITE; PS00421; TM4_1; 1.
1: Evidence at protein level;
Complete proteome; Disease mutation; Glycoprotein;
Host-virus interaction; Membrane; Mental retardation;
Reference proteome; Transmembrane; Transmembrane helix.
CHAIN 1 249 Tetraspanin-7.
/FTId=PRO_0000219248.
TOPO_DOM 1 16 Cytoplasmic. {ECO:0000255}.
TRANSMEM 17 40 Helical. {ECO:0000255}.
TOPO_DOM 41 56 Extracellular. {ECO:0000255}.
TRANSMEM 57 75 Helical. {ECO:0000255}.
TOPO_DOM 76 86 Cytoplasmic. {ECO:0000255}.
TRANSMEM 87 112 Helical. {ECO:0000255}.
TOPO_DOM 113 213 Extracellular. {ECO:0000255}.
TRANSMEM 214 234 Helical. {ECO:0000255}.
TOPO_DOM 235 249 Cytoplasmic. {ECO:0000255}.
CARBOHYD 54 54 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 155 155 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 158 158 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 177 177 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 188 188 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
VARIANT 53 53 E -> K (in dbSNP:rs17851592).
{ECO:0000269|PubMed:15489334}.
/FTId=VAR_037905.
VARIANT 127 127 A -> T (in dbSNP:rs17851593).
{ECO:0000269|PubMed:15489334}.
/FTId=VAR_037906.
VARIANT 172 172 P -> H (in MRX58; dbSNP:rs104894951).
{ECO:0000269|PubMed:10655063}.
/FTId=VAR_009259.
CONFLICT 136 136 E -> K (in Ref. 5; CAB65594).
{ECO:0000305}.
SEQUENCE 249 AA; 27574 MW; F2CF4517DB388173 CRC64;
MASRRMETKP VITCLKTLLI IYSFVFWITG VILLAVGVWG KLTLGTYISL IAENSTNAPY
VLIGTGTTIV VFGLFGCFAT CRGSPWMLKL YAMFLSLVFL AELVAGISGF VFRHEIKDTF
LRTYTDAMQT YNGNDERSRA VDHVQRSLSC CGVQNYTNWS TSPYFLEHGI PPSCCMNETD
CNPQDLHNLT VAATKVNQKG CYDLVTSFME TNMGIIAGVA FGIAFSQLIG MLLACCLSRF
ITANQYEMV


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