MANS1_HUMAN
ID MANS1_HUMAN Reviewed; 431 AA.
AC Q9H8J5; Q8NEC1; Q9NW60;
DT 07-JUN-2004, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2001, sequence version 1.
DT 03-AUG-2022, entry version 135.
DE RecName: Full=MANSC domain-containing protein 1;
DE AltName: Full=Loss of heterozygosity 12 chromosomal region 3 protein;
DE Flags: Precursor;
GN Name=MANSC1; Synonyms=LOH12CR3; ORFNames=UNQ316/PRO361;
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] (ISOFORM 1).
RX PubMed=12975309; DOI=10.1101/gr.1293003;
RA Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S., Huang A.,
RA Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D.,
RA Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L.,
RA Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C.,
RA Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J.,
RA Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.;
RT "The secreted protein discovery initiative (SPDI), a large-scale effort to
RT identify novel human secreted and transmembrane proteins: a bioinformatics
RT assessment.";
RL Genome Res. 13:2265-2270(2003).
RN [2]
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16541075; DOI=10.1038/nature04569;
RA Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y.,
RA Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C.,
RA Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C.,
RA Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R.,
RA Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E.,
RA Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y.,
RA Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G.,
RA Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H.,
RA Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S.,
RA Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M.,
RA Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H.,
RA Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q.,
RA Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V.,
RA Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E.,
RA Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K.,
RA Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D.,
RA Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R.,
RA David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E.,
RA D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N.,
RA Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N.,
RA Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R.,
RA Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S.,
RA LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H.,
RA Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P.,
RA Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G.,
RA Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E.,
RA Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S.,
RA Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O.,
RA Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J.,
RA Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A.,
RA Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M.,
RA Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I.,
RA Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A.,
RA Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y.,
RA Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A.,
RA Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F.,
RA Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L.,
RA Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G.,
RA Gibbs R.A.;
RT "The finished DNA sequence of human chromosome 12.";
RL Nature 440:346-351(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton 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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT ILE-55.
RC TISSUE=Testis;
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 [6]
RP TISSUE SPECIFICITY.
RX PubMed=11896457; DOI=10.1038/sj.ejhg.5200766;
RA Montpetit A., Boily G., Sinnett D.;
RT "A detailed transcriptional map of the chromosome 12p12 tumour suppressor
RT locus.";
RL Eur. J. Hum. Genet. 10:62-71(2002).
CC -!- INTERACTION:
CC Q9H8J5; Q6UX27-3: VSTM1; NbExp=3; IntAct=EBI-2830042, EBI-12190699;
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I
CC membrane protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9H8J5-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9H8J5-2; Sequence=VSP_055927;
CC -!- TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:11896457}.
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DR EMBL; AY358563; AAQ88926.1; -; mRNA.
DR EMBL; AK001160; BAA91526.1; -; mRNA.
DR EMBL; AK023622; BAB14621.1; -; mRNA.
DR EMBL; AC007621; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471094; EAW96254.1; -; Genomic_DNA.
DR EMBL; BC032998; AAH32998.1; -; mRNA.
DR CCDS; CCDS86284.1; -. [Q9H8J5-2]
DR CCDS; CCDS8648.1; -. [Q9H8J5-1]
DR RefSeq; NP_060520.2; NM_018050.2. [Q9H8J5-1]
DR RefSeq; XP_016875020.1; XM_017019531.1.
DR AlphaFoldDB; Q9H8J5; -.
DR SMR; Q9H8J5; -.
DR BioGRID; 120101; 102.
DR IntAct; Q9H8J5; 90.
DR STRING; 9606.ENSP00000438205; -.
DR GlyGen; Q9H8J5; 7 sites, 1 O-linked glycan (1 site).
DR iPTMnet; Q9H8J5; -.
DR PhosphoSitePlus; Q9H8J5; -.
DR BioMuta; MANSC1; -.
DR DMDM; 48428493; -.
DR EPD; Q9H8J5; -.
DR jPOST; Q9H8J5; -.
DR MassIVE; Q9H8J5; -.
DR MaxQB; Q9H8J5; -.
DR PaxDb; Q9H8J5; -.
DR PeptideAtlas; Q9H8J5; -.
DR PRIDE; Q9H8J5; -.
DR ProteomicsDB; 81214; -. [Q9H8J5-1]
DR Antibodypedia; 2339; 119 antibodies from 24 providers.
DR DNASU; 54682; -.
DR Ensembl; ENST00000396349.3; ENSP00000379638.3; ENSG00000111261.14. [Q9H8J5-2]
DR Ensembl; ENST00000535902.6; ENSP00000438205.1; ENSG00000111261.14. [Q9H8J5-1]
DR Ensembl; ENST00000626912.1; ENSP00000487244.1; ENSG00000281818.3. [Q9H8J5-2]
DR Ensembl; ENST00000629245.3; ENSP00000487587.1; ENSG00000281818.3. [Q9H8J5-1]
DR GeneID; 54682; -.
DR KEGG; hsa:54682; -.
DR MANE-Select; ENST00000535902.6; ENSP00000438205.1; NM_018050.4; NP_060520.2.
DR UCSC; uc001rai.2; human. [Q9H8J5-1]
DR CTD; 54682; -.
DR DisGeNET; 54682; -.
DR GeneCards; MANSC1; -.
DR HGNC; HGNC:25505; MANSC1.
DR HPA; ENSG00000111261; Tissue enhanced (salivary).
DR neXtProt; NX_Q9H8J5; -.
DR OpenTargets; ENSG00000111261; -.
DR PharmGKB; PA134948173; -.
DR VEuPathDB; HostDB:ENSG00000111261; -.
DR eggNOG; ENOG502RZBP; Eukaryota.
DR GeneTree; ENSGT00940000153377; -.
DR HOGENOM; CLU_054219_0_0_1; -.
DR InParanoid; Q9H8J5; -.
DR OMA; SQNCPTK; -.
DR OrthoDB; 778983at2759; -.
DR PhylomeDB; Q9H8J5; -.
DR TreeFam; TF336966; -.
DR PathwayCommons; Q9H8J5; -.
DR SignaLink; Q9H8J5; -.
DR BioGRID-ORCS; 54682; 14 hits in 1079 CRISPR screens.
DR ChiTaRS; MANSC1; human.
DR GenomeRNAi; 54682; -.
DR Pharos; Q9H8J5; Tdark.
DR PRO; PR:Q9H8J5; -.
DR Proteomes; UP000005640; Chromosome 12.
DR RNAct; Q9H8J5; protein.
DR Bgee; ENSG00000111261; Expressed in saliva-secreting gland and 102 other tissues.
DR ExpressionAtlas; Q9H8J5; baseline and differential.
DR Genevisible; Q9H8J5; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR InterPro; IPR013980; MANSC_dom.
DR InterPro; IPR011106; MANSC_N.
DR Pfam; PF07502; MANEC; 1.
DR SMART; SM00765; MANEC; 1.
DR PROSITE; PS50986; MANSC; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Glycoprotein; Membrane; Reference proteome; Signal;
KW Transmembrane; Transmembrane helix.
FT SIGNAL 1..26
FT /evidence="ECO:0000255"
FT CHAIN 27..431
FT /note="MANSC domain-containing protein 1"
FT /id="PRO_0000021636"
FT TOPO_DOM 27..385
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 386..408
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 409..431
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT DOMAIN 33..117
FT /note="MANSC"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00341"
FT REGION 234..277
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 352..372
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 72
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 222
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 251
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 327
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 352
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 14..47
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_055927"
FT VARIANT 55
FT /note="V -> I (in dbSNP:rs3741798)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_021840"
FT VARIANT 141
FT /note="L -> V (in dbSNP:rs34668262)"
FT /id="VAR_061682"
FT VARIANT 165
FT /note="D -> N (in dbSNP:rs17375215)"
FT /id="VAR_051151"
FT VARIANT 375
FT /note="N -> Y (in dbSNP:rs3741803)"
FT /id="VAR_021841"
SQ SEQUENCE 431 AA; 46810 MW; 189136416F0F89AE CRC64;
MFFGGEGSLT YTLVIICFLT LRLSASQNCL KKSLEDVVID IQSSLSKGIR GNEPVYTSTQ
EDCINSCCST KNISGDKACN LMIFDTRKTA RQPNCYLFFC PNEEACPLKP AKGLMSYRII
TDFPSLTRNL PSQELPQEDS LLHGQFSQAV TPLAHHHTDY SKPTDISWRD TLSQKFGSSD
HLEKLFKMDE ASAQLLAYKE KGHSQSSQFS SDQEIAHLLP ENVSALPATV AVASPHTTSA
TPKPATLLPT NASVTPSGTS QPQLATTAPP VTTVTSQPPT TLISTVFTRA AATLQAMATT
AVLTTTFQAP TDSKGSLETI PFTEISNLTL NTGNVYNPTA LSMSNVESST MNKTASWEGR
EASPGSSSQG SVPENQYGLP FEKWLLIGSL LFGVLFLVIG LVLLGRILSE SLRRKRYSRL
DYLINGIYVD I
