TSN7_HUMAN
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 03-AUG-2022, entry version 194.
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_004615.3.
DR AlphaFoldDB; P41732; -.
DR SMR; P41732; -.
DR BioGRID; 112957; 25.
DR IntAct; P41732; 20.
DR MINT; P41732; -.
DR STRING; 9606.ENSP00000367743; -.
DR TCDB; 8.A.40.1.2; the tetraspanin (tetraspanin) family.
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 MaxQB; P41732; -.
DR PaxDb; P41732; -.
DR PeptideAtlas; P41732; -.
DR PRIDE; P41732; -.
DR ProteomicsDB; 55476; -.
DR Antibodypedia; 530; 298 antibodies from 28 providers.
DR DNASU; 7102; -.
DR Ensembl; ENST00000378482.7; ENSP00000367743.2; ENSG00000156298.13.
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 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 neXtProt; NX_P41732; -.
DR OpenTargets; ENSG00000156298; -.
DR Orphanet; 777; X-linked non-syndromic intellectual disability.
DR PharmGKB; PA36555; -.
DR VEuPathDB; HostDB:ENSG00000156298; -.
DR eggNOG; KOG3882; Eukaryota.
DR GeneTree; ENSGT00940000156153; -.
DR HOGENOM; CLU_055524_3_0_1; -.
DR InParanoid; P41732; -.
DR OMA; NWNTSPY; -.
DR OrthoDB; 1145558at2759; -.
DR PhylomeDB; P41732; -.
DR TreeFam; TF352891; -.
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 BioGRID-ORCS; 7102; 10 hits in 698 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 196 other tissues.
DR ExpressionAtlas; P41732; baseline and differential.
DR Genevisible; P41732; HS.
DR GO; GO:0005887; C:integral component of plasma membrane; IBA:GO_Central.
DR Gene3D; 1.10.1450.10; -; 1.
DR InterPro; IPR018499; Tetraspanin/Peripherin.
DR InterPro; IPR000301; Tetraspanin_animals.
DR InterPro; IPR018503; Tetraspanin_CS.
DR InterPro; IPR008952; Tetraspanin_EC2_sf.
DR PANTHER; PTHR19282; PTHR19282; 1.
DR Pfam; PF00335; Tetraspanin; 1.
DR PIRSF; PIRSF002419; Tetraspanin; 1.
DR SUPFAM; SSF48652; SSF48652; 1.
DR PROSITE; PS00421; TM4_1; 1.
PE 1: Evidence at protein level;
KW Disease variant; Glycoprotein; Host-virus interaction;
KW Intellectual disability; Membrane; Reference proteome; Transmembrane;
KW 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