ID TSN7_HUMAN Reviewed; 249 AA. AC P41732; B2R5W7; D3DWB1; Q8WVG5; Q9UEY9; DT 01-NOV-1995, integrated into UniProtKB/Swiss-Prot. DT 16-NOV-2001, sequence version 2. DT 02-SEP-2026, entry version 211. DE RecName: Full=Tetraspanin-7; DE Short=Tspan-7; DE AltName: Full=Cell surface glycoprotein A15; DE AltName: Full=Membrane component chromosome X surface marker 1; DE AltName: Full=T-cell acute lymphoblastic leukemia-associated antigen 1; DE Short=TALLA-1; DE AltName: Full=Transmembrane 4 superfamily member 2; DE AltName: CD_antigen=CD231; GN Name=TSPAN7; Synonyms=A15, DXS1692E, MXS1, TM4SF2; 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]. RC TISSUE=Peripheral blood lymphocyte; RX PubMed=8420826; DOI=10.1007/bf00191884; RA Emi N., Kitaori K., Seto M., Ueda R., Saito H., Takahashi T.; RT "Isolation of a novel cDNA clone showing marked similarity to ME491/CD63 RT superfamily."; RL Immunogenetics 37:193-198(1993). RN [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. RC TISSUE=Brain cortex; 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 [3] 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 (SEP-2005) to the EMBL/GenBank/DDBJ databases. RN [4] RP NUCLEOTIDE SEQUENCE [MRNA] OF 4-249. RC TISSUE=Peripheral blood; RX PubMed=7768645; DOI=10.1002/ijc.2910610519; RA Takagi S., Fujikawa K., Imai T., Fukuhara N., Fukudome K., Minegishi M., RA Tsuchiya S., Konno T., Hinuma Y., Yoshie O.; RT "Identification of a highly specific surface marker of T-cell acute RT lymphoblastic leukemia and neuroblastoma as a new member of the RT transmembrane 4 superfamily."; RL Int. J. Cancer 61:706-715(1995). RN [5] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT XLID58 HIS-172. RX PubMed=10655063; DOI=10.1038/72829; RA Zemni R., Bienvenu T., Vinet M.C., Sefiani A., Carrie A., Billuart P., RA McDonell N., Couvert P., Francis F., Chafey P., Fauchereau F., RA Friocourt G., desPortes V., Cardona A., Frints S., Meindl A., Brandau O., RA Ronce N., Moraine C., Bokhoven H.V., Ropers H.-H., Sudbrak R., Kahn A., RA Fryns J.-P., Beldjord C., Chelly J.; RT "A new gene involved in X-linked mental retardation identified by analysis RT of an X;2 balanced translocation."; RL Nat. Genet. 24:167-170(2000). RN [6] RP NUCLEOTIDE SEQUENCE [MRNA]. RC TISSUE=Brain; RA Wang H., Gao X., Huang Y., Han J.; RT "Homo sapiens transmembrane 4 superfamily member 2 (TM4SF2, tetraspanins), RT mRNA."; RL Submitted (MAY-2001) to the EMBL/GenBank/DDBJ databases. RN [7] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS LYS-53 AND THR-127. RC TISSUE=Brain; 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 [8] RP INTERACTION WITH HHV-1 UL35 (MICROBIAL INFECTION). RX PubMed=20630051; DOI=10.1186/1743-422x-7-156; RA Wang L., Liu L., Che Y., Wang L., Jiang L., Dong C., Zhang Y., Li Q.; RT "Egress of HSV-1 capsid requires the interaction of VP26 and a cellular RT tetraspanin membrane protein."; RL Virol. J. 7:156-156(2010). CC -!- FUNCTION: May be involved in cell proliferation and cell motility. CC -!- SUBUNIT: (Microbial infection) Interacts with herpes simplex virus 1 CC (HHV-1) UL35. {ECO:0000269|PubMed:20630051}. CC -!- INTERACTION: CC P41732; Q5JX71: FAM209A; NbExp=3; IntAct=EBI-1042779, EBI-18304435; CC P41732; Q8TDT2: GPR152; NbExp=3; IntAct=EBI-1042779, EBI-13345167; CC P41732; Q8TAF8: LHFPL5; NbExp=3; IntAct=EBI-1042779, EBI-2820517; CC P41732; Q6FHY5: MEOX2; NbExp=3; IntAct=EBI-1042779, EBI-16439278; CC -!- SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein. CC -!- TISSUE SPECIFICITY: Not solely expressed in T-cells. Expressed in acute CC myelocytic leukemia cells of some patients. CC -!- DISEASE: Intellectual developmental disorder, X-linked 58 (XLID58) CC [MIM:300210]: A disorder characterized by significantly below average CC general intellectual functioning associated with impairments in CC adaptive behavior and manifested during the developmental period. CC Intellectual deficiency is the only primary symptom of non-syndromic X- CC linked intellectual disability, while syndromic intellectual disability CC presents with associated physical, neurological and/or psychiatric CC manifestations. {ECO:0000269|PubMed:10655063}. Note=The disease is CC caused by variants affecting the gene represented in this entry. CC -!- SIMILARITY: Belongs to the tetraspanin (TM4SF) family. {ECO:0000305}. CC -!- SEQUENCE CAUTION: CC Sequence=BAA01501.1; Type=Erroneous initiation; Evidence={ECO:0000305}; CC Sequence=BAA06191.1; Type=Erroneous initiation; Evidence={ECO:0000305}; CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; D10653; BAA01501.1; ALT_INIT; mRNA. DR EMBL; AK312343; BAG35264.1; -; mRNA. DR EMBL; CH471141; EAW59437.1; -; Genomic_DNA. DR EMBL; D29808; BAA06191.1; ALT_INIT; mRNA. DR EMBL; AJ250562; CAB65594.1; -; Genomic_DNA. DR EMBL; AJ250563; CAB65594.1; JOINED; Genomic_DNA. DR EMBL; AJ250564; CAB65594.1; JOINED; Genomic_DNA. DR EMBL; AJ250565; CAB65594.1; JOINED; Genomic_DNA. DR EMBL; AJ250566; CAB65594.1; JOINED; Genomic_DNA. DR EMBL; AJ250567; CAB65594.1; JOINED; Genomic_DNA. DR EMBL; AJ250568; CAB65594.1; JOINED; Genomic_DNA. DR EMBL; AB062057; BAB55825.1; -; mRNA. DR EMBL; AB062057; BAB55824.1; -; mRNA. DR EMBL; CH471141; EAW59438.1; -; Genomic_DNA. DR EMBL; BC018036; AAH18036.1; -; mRNA. DR CCDS; CCDS14248.1; -. DR PIR; I39368; I39368. DR RefSeq; NP_004606.2; NM_004615.4. DR AlphaFoldDB; P41732; -. DR SMR; P41732; -. DR BioGRID; 112957; 37. DR FunCoup; P41732; 473. DR IntAct; P41732; 23. DR MINT; P41732; -. DR STRING; 9606.ENSP00000367743; -. DR TCDB; 8.A.40.1.2; the tetraspanin (tetraspanin) family. DR GlyCosmos; P41732; 5 sites, No reported glycans. DR GlyGen; P41732; 5 sites. DR iPTMnet; P41732; -. DR PhosphoSitePlus; P41732; -. DR SwissPalm; P41732; -. DR BioMuta; TSPAN7; -. DR DMDM; 17380550; -. DR jPOST; P41732; -. DR MassIVE; P41732; -. DR PaxDb; 9606-ENSP00000367743; -. DR PeptideAtlas; P41732; -. DR ProteomicsDB; 55476; -. DR Pumba; P41732; -. DR Antibodypedia; 530; 303 antibodies from 30 providers. DR DNASU; 7102; -. DR Ensembl; ENST00000378482.7; ENSP00000367743.2; ENSG00000156298.14. DR Ensembl; ENST00000899436.1; ENSP00000569495.1; ENSG00000156298.14. DR Ensembl; ENST00000899437.1; ENSP00000569496.1; ENSG00000156298.14. DR Ensembl; ENST00000899441.1; ENSP00000569500.1; ENSG00000156298.14. DR Ensembl; ENST00000899442.1; ENSP00000569501.1; ENSG00000156298.14. DR GeneID; 7102; -. DR KEGG; hsa:7102; -. DR MANE-Select; ENST00000378482.7; ENSP00000367743.2; NM_004615.4; NP_004606.2. DR UCSC; uc004deg.5; human. DR AGR; HGNC:11854; -. DR ClinPGx; PA36555; -. DR CTD; 7102; -. DR DisGeNET; 7102; -. DR GeneCards; TSPAN7; -. DR HGNC; HGNC:11854; TSPAN7. DR HPA; ENSG00000156298; Tissue enhanced (brain). DR MalaCards; TSPAN7; -. DR MIM; 300096; gene. DR MIM; 300210; phenotype. DR OpenTargets; ENSG00000156298; -. DR Orphanet; 777; X-linked non-syndromic intellectual disability. DR VEuPathDB; HostDB:ENSG00000156298; -. DR eggNOG; KOG3882; Eukaryota. DR GeneTree; ENSGT00940000156153; -. DR HOGENOM; CLU_055524_3_0_1; -. DR InParanoid; P41732; -. DR OMA; VYRQGCY; -. DR OrthoDB; 9972904at2759; -. DR PAN-GO; P41732; 1 GO annotation based on evolutionary models. DR PhylomeDB; P41732; -. DR PathwayCommons; P41732; -. DR Reactome; R-HSA-202733; Cell surface interactions at the vascular wall. DR Reactome; R-HSA-416993; Trafficking of GluR2-containing AMPA receptors. DR SignaLink; P41732; -. DR SIGNOR; P41732; -. DR Agora; ENSG00000156298; Agora Nominated Target for Alzheimer's Disease. DR BioGRID-ORCS; 7102; 10 hits in 772 CRISPR screens. DR ChiTaRS; TSPAN7; human. DR GeneWiki; TSPAN7; -. DR GenomeRNAi; 7102; -. DR Pharos; P41732; Tbio. DR PRO; PR:P41732; -. DR Proteomes; UP000005640; Chromosome X. DR RNAct; P41732; protein. DR Bgee; ENSG00000156298; Expressed in caudate nucleus and 198 other cell types or tissues. DR ExpressionAtlas; P41732; baseline and differential. DR GO; GO:0005886; C:plasma membrane; IBA:GO_Central. DR CDD; cd03161; TM4SF2_6_like_LEL; 1. DR FunFam; 1.10.1450.10:FF:000003; Tetraspanin; 1. DR Gene3D; 1.10.1450.10; Tetraspanin; 1. DR InterPro; IPR018499; Tetraspanin/Peripherin. DR InterPro; IPR000301; Tetraspanin_animals. DR InterPro; IPR018503; Tetraspanin_CS. DR InterPro; IPR008952; Tetraspanin_EC2_sf. DR InterPro; IPR048232; TSN6/7_LEL. DR PANTHER; PTHR19282; TETRASPANIN; 1. DR PANTHER; PTHR19282:SF257; TETRASPANIN-7; 1. DR Pfam; PF00335; Tetraspanin; 1. DR PIRSF; PIRSF002419; Tetraspanin; 1. DR PRINTS; PR00259; TMFOUR. DR SUPFAM; SSF48652; Tetraspanin; 1. DR PROSITE; PS00421; TM4_1; 1. PE 1: Evidence at protein level; KW Disease variant; Glycoprotein; Host-virus interaction; KW Intellectual disability; Membrane; Proteomics identification; KW Reference proteome; Transmembrane; Transmembrane helix. FT CHAIN 1..249 FT /note="Tetraspanin-7" FT /id="PRO_0000219248" FT TOPO_DOM 1..16 FT /note="Cytoplasmic" FT /evidence="ECO:0000255" FT TRANSMEM 17..40 FT /note="Helical" FT /evidence="ECO:0000255" FT TOPO_DOM 41..56 FT /note="Extracellular" FT /evidence="ECO:0000255" FT TRANSMEM 57..75 FT /note="Helical" FT /evidence="ECO:0000255" FT TOPO_DOM 76..86 FT /note="Cytoplasmic" FT /evidence="ECO:0000255" FT TRANSMEM 87..112 FT /note="Helical" FT /evidence="ECO:0000255" FT TOPO_DOM 113..213 FT /note="Extracellular" FT /evidence="ECO:0000255" FT TRANSMEM 214..234 FT /note="Helical" FT /evidence="ECO:0000255" FT TOPO_DOM 235..249 FT /note="Cytoplasmic" FT /evidence="ECO:0000255" FT CARBOHYD 54 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 155 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 158 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 177 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 188 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT VARIANT 53 FT /note="E -> K (in dbSNP:rs17851592)" FT /evidence="ECO:0000269|PubMed:15489334" FT /id="VAR_037905" FT VARIANT 127 FT /note="A -> T (in dbSNP:rs17851593)" FT /evidence="ECO:0000269|PubMed:15489334" FT /id="VAR_037906" FT VARIANT 172 FT /note="P -> H (in XLID58; dbSNP:rs104894951)" FT /evidence="ECO:0000269|PubMed:10655063" FT /id="VAR_009259" FT CONFLICT 136 FT /note="E -> K (in Ref. 5; CAB65594)" FT /evidence="ECO:0000305" SQ 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 //