TMM40_HUMAN
ID TMM40_HUMAN Reviewed; 233 AA.
AC Q8WWA1; C9JID5; Q8NAL4; Q9NUZ4;
DT 20-MAR-2007, integrated into UniProtKB/Swiss-Prot.
DT 20-MAR-2007, sequence version 2.
DT 03-AUG-2022, entry version 124.
DE RecName: Full=Transmembrane protein 40;
GN Name=TMEM40;
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 [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Placenta;
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 [2]
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16641997; DOI=10.1038/nature04728;
RA Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J.,
RA Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P.,
RA Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A.,
RA Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L.,
RA Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G.,
RA Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W.,
RA Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M.,
RA Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P.,
RA Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H.,
RA Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J.,
RA Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W.,
RA Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B.,
RA Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O.,
RA Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B.,
RA Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H.,
RA Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J.,
RA Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X.,
RA Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R.,
RA Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.;
RT "The DNA sequence, annotation and analysis of human chromosome 3.";
RL Nature 440:1194-1198(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Placenta;
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 [5]
RP PROTEIN SEQUENCE OF 1-18, AND ACETYLATION AT MET-1.
RX PubMed=12665801; DOI=10.1038/nbt810;
RA Gevaert K., Goethals M., Martens L., Van Damme J., Staes A., Thomas G.R.,
RA Vandekerckhove J.;
RT "Exploring proteomes and analyzing protein processing by mass spectrometric
RT identification of sorted N-terminal peptides.";
RL Nat. Biotechnol. 21:566-569(2003).
RN [6]
RP PROTEIN SEQUENCE OF 1-18 AND 210-223, ACETYLATION AT MET-1, SUBCELLULAR
RP LOCATION, AND IDENTIFICATION BY MASS SPECTROMETRY.
RC TISSUE=Platelet;
RA Bienvenut W.V., Claeys D.;
RL Submitted (NOV-2005) to UniProtKB.
RN [7]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-137, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=T-cell;
RX PubMed=19367720; DOI=10.1021/pr800500r;
RA Carrascal M., Ovelleiro D., Casas V., Gay M., Abian J.;
RT "Phosphorylation analysis of primary human T lymphocytes using sequential
RT IMAC and titanium oxide enrichment.";
RL J. Proteome Res. 7:5167-5176(2008).
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000269|Ref.6}; Multi-pass membrane
CC protein {ECO:0000269|Ref.6}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q8WWA1-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8WWA1-2; Sequence=VSP_023643;
CC Name=3;
CC IsoId=Q8WWA1-3; Sequence=VSP_055682;
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DR EMBL; AK001898; BAA91967.1; -; mRNA.
DR EMBL; AK092470; BAC03898.1; -; mRNA.
DR EMBL; AC034198; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471055; EAW64138.1; -; Genomic_DNA.
DR EMBL; BC020658; AAH20658.1; -; mRNA.
DR CCDS; CCDS2613.1; -. [Q8WWA1-1]
DR CCDS; CCDS68347.1; -. [Q8WWA1-3]
DR CCDS; CCDS68348.1; -. [Q8WWA1-2]
DR RefSeq; NP_001271335.1; NM_001284406.1.
DR RefSeq; NP_001271336.1; NM_001284407.1. [Q8WWA1-2]
DR RefSeq; NP_001271337.1; NM_001284408.1. [Q8WWA1-3]
DR RefSeq; NP_060776.2; NM_018306.3. [Q8WWA1-1]
DR RefSeq; XP_011532239.1; XM_011533937.2. [Q8WWA1-1]
DR AlphaFoldDB; Q8WWA1; -.
DR SMR; Q8WWA1; -.
DR BioGRID; 120575; 15.
DR IntAct; Q8WWA1; 1.
DR STRING; 9606.ENSP00000322837; -.
DR iPTMnet; Q8WWA1; -.
DR MetOSite; Q8WWA1; -.
DR PhosphoSitePlus; Q8WWA1; -.
DR BioMuta; TMEM40; -.
DR DMDM; 134035046; -.
DR EPD; Q8WWA1; -.
DR jPOST; Q8WWA1; -.
DR MassIVE; Q8WWA1; -.
DR MaxQB; Q8WWA1; -.
DR PaxDb; Q8WWA1; -.
DR PeptideAtlas; Q8WWA1; -.
DR PRIDE; Q8WWA1; -.
DR ProteomicsDB; 10321; -.
DR ProteomicsDB; 74870; -. [Q8WWA1-1]
DR ProteomicsDB; 74871; -. [Q8WWA1-2]
DR TopDownProteomics; Q8WWA1-2; -. [Q8WWA1-2]
DR Antibodypedia; 26279; 40 antibodies from 10 providers.
DR DNASU; 55287; -.
DR Ensembl; ENST00000264728.8; ENSP00000264728.8; ENSG00000088726.16. [Q8WWA1-1]
DR Ensembl; ENST00000314124.12; ENSP00000322837.7; ENSG00000088726.16. [Q8WWA1-1]
DR Ensembl; ENST00000435218.6; ENSP00000405740.2; ENSG00000088726.16. [Q8WWA1-2]
DR Ensembl; ENST00000435575.5; ENSP00000396895.1; ENSG00000088726.16. [Q8WWA1-3]
DR GeneID; 55287; -.
DR KEGG; hsa:55287; -.
DR MANE-Select; ENST00000314124.12; ENSP00000322837.7; NM_018306.4; NP_060776.2.
DR UCSC; uc003bxg.3; human. [Q8WWA1-1]
DR CTD; 55287; -.
DR DisGeNET; 55287; -.
DR GeneCards; TMEM40; -.
DR HGNC; HGNC:25620; TMEM40.
DR HPA; ENSG00000088726; Group enriched (esophagus, skin, vagina).
DR neXtProt; NX_Q8WWA1; -.
DR OpenTargets; ENSG00000088726; -.
DR PharmGKB; PA134940002; -.
DR VEuPathDB; HostDB:ENSG00000088726; -.
DR eggNOG; ENOG502SRH1; Eukaryota.
DR GeneTree; ENSGT00390000017530; -.
DR HOGENOM; CLU_104233_0_0_1; -.
DR InParanoid; Q8WWA1; -.
DR OMA; NDEDQHP; -.
DR OrthoDB; 1525669at2759; -.
DR PhylomeDB; Q8WWA1; -.
DR TreeFam; TF336300; -.
DR PathwayCommons; Q8WWA1; -.
DR SignaLink; Q8WWA1; -.
DR BioGRID-ORCS; 55287; 9 hits in 1066 CRISPR screens.
DR ChiTaRS; TMEM40; human.
DR GenomeRNAi; 55287; -.
DR Pharos; Q8WWA1; Tdark.
DR PRO; PR:Q8WWA1; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; Q8WWA1; protein.
DR Bgee; ENSG00000088726; Expressed in lower esophagus mucosa and 134 other tissues.
DR ExpressionAtlas; Q8WWA1; baseline and differential.
DR Genevisible; Q8WWA1; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR InterPro; IPR026181; TMEM40.
DR PANTHER; PTHR16108; PTHR16108; 1.
DR Pfam; PF15817; TMEM40; 1.
PE 1: Evidence at protein level;
KW Acetylation; Alternative splicing; Direct protein sequencing; Membrane;
KW Phosphoprotein; Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1..233
FT /note="Transmembrane protein 40"
FT /id="PRO_0000280358"
FT TRANSMEM 160..180
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 187..207
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 1..143
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 15..36
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 43..76
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 1
FT /note="N-acetylmethionine"
FT /evidence="ECO:0000269|PubMed:12665801, ECO:0000269|Ref.6"
FT MOD_RES 137
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:19367720"
FT VAR_SEQ 25..101
FT /note="YGETDFHKQDGKAGLFSQEQYERNKSSSSSSSSSSSSSSSSSSSSSESNDED
FT QQPRATGKHRRSLGAGYPHGNGSPG -> C (in isoform 3)"
FT /evidence="ECO:0000305"
FT /id="VSP_055682"
FT VAR_SEQ 71..100
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_023643"
FT CONFLICT 55
FT /note="S -> F (in Ref. 1; BAA91967)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 233 AA; 25495 MW; D9EB40E963420CCC CRC64;
METSASSSQP QDNSQVHRET EDVDYGETDF HKQDGKAGLF SQEQYERNKS SSSSSSSSSS
SSSSSSSSSS ESNDEDQQPR ATGKHRRSLG AGYPHGNGSP GPGHGEPDVL KDELQLYGDA
PGEVVPSGES GLRRRGSDPA SGEVEASQLR RLNIKKDDEF FHFVLLCFAI GALLVCYHYY
ADWFMSLGVG LLTFASLETV GIYFGLVYRI HSVLQGFIPL FQKFRLTGFR KTD
