TM6S1_HUMAN
ID TM6S1_HUMAN Reviewed; 370 AA.
AC Q9BZW5; A8K7T5; H3BU56; Q4U0U5;
DT 27-MAR-2002, integrated into UniProtKB/Swiss-Prot.
DT 14-OCT-2008, sequence version 2.
DT 03-AUG-2022, entry version 133.
DE RecName: Full=Transmembrane 6 superfamily member 1;
GN Name=TM6SF1;
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 1).
RX PubMed=11124529; DOI=10.1159/000056784;
RA Carim-Todd L., Escarceller M., Estivill X., Sumoy L.;
RT "Cloning of the novel gene TM6SF1 reveals conservation of clusters of
RT paralogous genes between human chromosomes 15q24-q26 and 19p13.3-p12.";
RL Cytogenet. Cell Genet. 90:255-260(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
RA Lin L., Nong W., Zhou G., Li H., Ke R., Shen C., Zhong G., Zheng Z.,
RA Liang M., Li M., Yang S.;
RL Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Synovium;
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=16572171; DOI=10.1038/nature04601;
RA Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K.,
RA Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K.,
RA FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N.,
RA Abouelleil A., Arachchi H.M., Baradarani L., Birditt B., Bloom S.,
RA Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K.,
RA DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J.,
RA Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E.,
RA Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B.,
RA Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R.,
RA O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B.,
RA Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S.,
RA Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.;
RT "Analysis of the DNA sequence and duplication history of human chromosome
RT 15.";
RL Nature 440:671-675(2006).
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 POSSIBLE FUNCTION AS STEROL ISOMERASE, AND DOMAIN EXPERA.
RX PubMed=25566323; DOI=10.3389/fgene.2014.00439;
RA Sanchez-Pulido L., Ponting C.P.;
RT "TM6SF2 and MAC30, new enzyme homologs in sterol metabolism and common
RT metabolic disease.";
RL Front. Genet. 5:439-439(2014).
CC -!- FUNCTION: May function as sterol isomerase.
CC {ECO:0000303|PubMed:25566323}.
CC -!- INTERACTION:
CC Q9BZW5-2; P26378-2: ELAVL4; NbExp=3; IntAct=EBI-25852210, EBI-21603100;
CC Q9BZW5-2; P22607: FGFR3; NbExp=3; IntAct=EBI-25852210, EBI-348399;
CC Q9BZW5-2; P06396: GSN; NbExp=3; IntAct=EBI-25852210, EBI-351506;
CC Q9BZW5-2; P42858: HTT; NbExp=3; IntAct=EBI-25852210, EBI-466029;
CC -!- SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000250|UniProtKB:P58749};
CC Multi-pass membrane protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9BZW5-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9BZW5-2; Sequence=VSP_045697;
CC -!- TISSUE SPECIFICITY: Enhanced expression in spleen, testis and
CC peripheral blood leukocytes.
CC -!- SIMILARITY: Belongs to the TM6SF family. {ECO:0000305}.
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DR EMBL; AF255922; AAG59699.1; -; mRNA.
DR EMBL; DQ021909; AAY44754.1; -; mRNA.
DR EMBL; AK292100; BAF84789.1; -; mRNA.
DR EMBL; AC024270; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471188; EAW62428.1; -; Genomic_DNA.
DR CCDS; CCDS10323.1; -. [Q9BZW5-1]
DR CCDS; CCDS45338.1; -. [Q9BZW5-2]
DR RefSeq; NP_001138375.1; NM_001144903.1. [Q9BZW5-2]
DR RefSeq; NP_075379.2; NM_023003.3. [Q9BZW5-1]
DR AlphaFoldDB; Q9BZW5; -.
DR BioGRID; 119747; 2.
DR IntAct; Q9BZW5; 6.
DR STRING; 9606.ENSP00000317000; -.
DR TCDB; 8.A.93.2.4; the sigma2 receptor or tmem97 (s2r) family.
DR iPTMnet; Q9BZW5; -.
DR PhosphoSitePlus; Q9BZW5; -.
DR BioMuta; TM6SF1; -.
DR DMDM; 209572686; -.
DR jPOST; Q9BZW5; -.
DR MassIVE; Q9BZW5; -.
DR MaxQB; Q9BZW5; -.
DR PaxDb; Q9BZW5; -.
DR PeptideAtlas; Q9BZW5; -.
DR PRIDE; Q9BZW5; -.
DR ProteomicsDB; 42833; -.
DR ProteomicsDB; 79911; -. [Q9BZW5-1]
DR Antibodypedia; 15402; 78 antibodies from 14 providers.
DR DNASU; 53346; -.
DR Ensembl; ENST00000322019.14; ENSP00000317000.9; ENSG00000136404.16. [Q9BZW5-1]
DR Ensembl; ENST00000565774.5; ENSP00000457477.1; ENSG00000136404.16. [Q9BZW5-2]
DR GeneID; 53346; -.
DR KEGG; hsa:53346; -.
DR MANE-Select; ENST00000322019.14; ENSP00000317000.9; NM_023003.5; NP_075379.2.
DR UCSC; uc002bjp.4; human. [Q9BZW5-1]
DR CTD; 53346; -.
DR DisGeNET; 53346; -.
DR GeneCards; TM6SF1; -.
DR HGNC; HGNC:11860; TM6SF1.
DR HPA; ENSG00000136404; Tissue enhanced (skeletal).
DR MIM; 606562; gene.
DR neXtProt; NX_Q9BZW5; -.
DR OpenTargets; ENSG00000136404; -.
DR PharmGKB; PA36561; -.
DR VEuPathDB; HostDB:ENSG00000136404; -.
DR eggNOG; ENOG502QRB2; Eukaryota.
DR GeneTree; ENSGT00390000012913; -.
DR HOGENOM; CLU_046717_0_0_1; -.
DR InParanoid; Q9BZW5; -.
DR OMA; FFMKPKQ; -.
DR OrthoDB; 784438at2759; -.
DR PhylomeDB; Q9BZW5; -.
DR TreeFam; TF333088; -.
DR PathwayCommons; Q9BZW5; -.
DR SignaLink; Q9BZW5; -.
DR BioGRID-ORCS; 53346; 5 hits in 1072 CRISPR screens.
DR ChiTaRS; TM6SF1; human.
DR GenomeRNAi; 53346; -.
DR Pharos; Q9BZW5; Tdark.
DR PRO; PR:Q9BZW5; -.
DR Proteomes; UP000005640; Chromosome 15.
DR RNAct; Q9BZW5; protein.
DR Bgee; ENSG00000136404; Expressed in monocyte and 155 other tissues.
DR ExpressionAtlas; Q9BZW5; baseline and differential.
DR Genevisible; Q9BZW5; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005765; C:lysosomal membrane; ISS:UniProtKB.
DR InterPro; IPR033118; EXPERA.
DR PROSITE; PS51751; EXPERA; 2.
PE 1: Evidence at protein level;
KW Alternative splicing; Lysosome; Membrane; Reference proteome; Repeat;
KW Transmembrane; Transmembrane helix.
FT CHAIN 1..370
FT /note="Transmembrane 6 superfamily member 1"
FT /id="PRO_0000181833"
FT TRANSMEM 3..23
FT /note="Helical; Name=1"
FT /evidence="ECO:0000255"
FT TRANSMEM 34..54
FT /note="Helical; Name=2"
FT /evidence="ECO:0000255"
FT TRANSMEM 62..82
FT /note="Helical; Name=3"
FT /evidence="ECO:0000255"
FT TRANSMEM 110..130
FT /note="Helical; Name=4"
FT /evidence="ECO:0000255"
FT TRANSMEM 139..159
FT /note="Helical; Name=5"
FT /evidence="ECO:0000255"
FT TRANSMEM 166..186
FT /note="Helical; Name=6"
FT /evidence="ECO:0000255"
FT TRANSMEM 218..238
FT /note="Helical; Name=7"
FT /evidence="ECO:0000255"
FT TRANSMEM 268..288
FT /note="Helical; Name=8"
FT /evidence="ECO:0000255"
FT TRANSMEM 331..351
FT /note="Helical; Name=9"
FT /evidence="ECO:0000255"
FT DOMAIN 60..185
FT /note="EXPERA 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01087"
FT DOMAIN 216..350
FT /note="EXPERA 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01087"
FT VAR_SEQ 237..267
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|Ref.2"
FT /id="VSP_045697"
FT VARIANT 17
FT /note="I -> T (in dbSNP:rs1062232)"
FT /id="VAR_012844"
FT VARIANT 59
FT /note="P -> S (in dbSNP:rs1989)"
FT /id="VAR_024661"
FT CONFLICT 11
FT /note="V -> M (in Ref. 2; AAY44754)"
FT /evidence="ECO:0000305"
FT CONFLICT 201
FT /note="K -> R (in Ref. 2; AAY44754)"
FT /evidence="ECO:0000305"
FT CONFLICT 341
FT /note="A -> V (in Ref. 1; AAG59699)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 370 AA; 41636 MW; 57E0BC11BBF16D68 CRC64;
MSASAATGVF VLSLSAIPVT YVFNHLAAQH DSWTIVGVAA LILFLVALLA RVLVKRKPPR
DPLFYVYAVF GFTSVVNLII GLEQDGIIDG FMTHYLREGE PYLNTAYGHM ICYWDGSAHY
LMYLVMVAAI AWEETYRTIG LYWVGSIIMS VVVFVPGNIV GKYGTRICPA FFLSIPYTCL
PVWAGFRIYN QPSENYNYPS KVIQEAQAKD LLRRPFDLML VVCLLLATGF CLFRGLIALD
CPSELCRLYT QFQEPYLKDP AAYPKIQMLA YMFYSVPYFV TALYGLVVPG CSWMPDITLI
HAGGLAQAQF SHIGASLHAR TAYVYRVPEE AKILFLALNI AYGVLPQLLA YRCIYKPEFF
IKTKAEEKVE
