MALD3_HUMAN
ID MALD3_HUMAN Reviewed; 401 AA.
AC Q96A59; A8K820; H3BQM5; Q96MJ4;
DT 09-JAN-2007, integrated into UniProtKB/Swiss-Prot.
DT 14-OCT-2008, sequence version 3.
DT 03-AUG-2022, entry version 134.
DE RecName: Full=MARVEL domain-containing protein 3;
GN Name=MARVELD3; Synonyms=MRVLDC3;
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 2 AND 3), AND VARIANT
RP LYS-60.
RC TISSUE=Mammary gland, Prostate, and Teratocarcinoma;
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].
RX PubMed=15616553; DOI=10.1038/nature03187;
RA Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G.,
RA Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E.,
RA Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J., Buckingham J.M.,
RA Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C.,
RA Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M.,
RA Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M.,
RA Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D.,
RA Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L.,
RA Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E.,
RA Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H.,
RA Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y.,
RA Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J.,
RA Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D.,
RA Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S.,
RA Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A.,
RA Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M.,
RA Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H.,
RA Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A.,
RA Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J.,
RA DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J.,
RA Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M.,
RA Myers R.M., Rubin E.M., Pennacchio L.A.;
RT "The sequence and analysis of duplication-rich human chromosome 16.";
RL Nature 432:988-994(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT LYS-60.
RC TISSUE=Lung;
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 [4]
RP FUNCTION, AND SUBCELLULAR LOCATION.
RX PubMed=20028514; DOI=10.1186/1471-2121-10-95;
RA Steed E., Rodrigues N.T., Balda M.S., Matter K.;
RT "Identification of MarvelD3 as a tight junction-associated transmembrane
RT protein of the occludin family.";
RL BMC Cell Biol. 10:95-95(2009).
CC -!- FUNCTION: As a component of tight junctions, plays a role in
CC paracellular ion conductivity. {ECO:0000269|PubMed:20028514}.
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000305}. Cell junction, tight junction
CC {ECO:0000269|PubMed:20028514}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q96A59-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96A59-2; Sequence=VSP_022322;
CC Name=3;
CC IsoId=Q96A59-3; Sequence=VSP_047541, VSP_047542;
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DR EMBL; AK056842; BAB71294.1; -; mRNA.
DR EMBL; AK292185; BAF84874.1; -; mRNA.
DR EMBL; AK307585; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AC009097; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC011893; AAH11893.1; -; mRNA.
DR EMBL; BC013376; AAH13376.1; -; mRNA.
DR CCDS; CCDS10904.1; -. [Q96A59-1]
DR CCDS; CCDS32478.1; -. [Q96A59-2]
DR CCDS; CCDS59270.1; -. [Q96A59-3]
DR RefSeq; NP_001017967.2; NM_001017967.3. [Q96A59-2]
DR RefSeq; NP_001258258.1; NM_001271329.1. [Q96A59-3]
DR RefSeq; NP_443090.4; NM_052858.5. [Q96A59-1]
DR AlphaFoldDB; Q96A59; -.
DR BioGRID; 124887; 1.
DR TCDB; 1.A.64.6.1; the plasmolipin (plasmolipin) family.
DR CarbonylDB; Q96A59; -.
DR iPTMnet; Q96A59; -.
DR PhosphoSitePlus; Q96A59; -.
DR BioMuta; MARVELD3; -.
DR DMDM; 209572737; -.
DR EPD; Q96A59; -.
DR jPOST; Q96A59; -.
DR MassIVE; Q96A59; -.
DR MaxQB; Q96A59; -.
DR PeptideAtlas; Q96A59; -.
DR PRIDE; Q96A59; -.
DR ProteomicsDB; 41824; -.
DR ProteomicsDB; 75920; -. [Q96A59-1]
DR ProteomicsDB; 75921; -. [Q96A59-2]
DR Antibodypedia; 30100; 67 antibodies from 20 providers.
DR DNASU; 91862; -.
DR Ensembl; ENST00000268485.8; ENSP00000268485.3; ENSG00000140832.11. [Q96A59-1]
DR Ensembl; ENST00000299952.4; ENSP00000299952.4; ENSG00000140832.11. [Q96A59-2]
DR Ensembl; ENST00000565261.1; ENSP00000455845.1; ENSG00000140832.11. [Q96A59-3]
DR GeneID; 91862; -.
DR KEGG; hsa:91862; -.
DR MANE-Select; ENST00000268485.8; ENSP00000268485.3; NM_052858.6; NP_443090.4.
DR UCSC; uc002fat.5; human. [Q96A59-1]
DR CTD; 91862; -.
DR DisGeNET; 91862; -.
DR GeneCards; MARVELD3; -.
DR HGNC; HGNC:30525; MARVELD3.
DR HPA; ENSG00000140832; Tissue enhanced (intestine).
DR MIM; 614094; gene.
DR neXtProt; NX_Q96A59; -.
DR OpenTargets; ENSG00000140832; -.
DR PharmGKB; PA134986126; -.
DR VEuPathDB; HostDB:ENSG00000140832; -.
DR GeneTree; ENSGT00950000183102; -.
DR HOGENOM; CLU_1758195_0_0_1; -.
DR InParanoid; Q96A59; -.
DR OMA; ERNGDHR; -.
DR OrthoDB; 1155000at2759; -.
DR PhylomeDB; Q96A59; -.
DR TreeFam; TF332526; -.
DR PathwayCommons; Q96A59; -.
DR BioGRID-ORCS; 91862; 17 hits in 1058 CRISPR screens.
DR ChiTaRS; MARVELD3; human.
DR GenomeRNAi; 91862; -.
DR Pharos; Q96A59; Tbio.
DR PRO; PR:Q96A59; -.
DR Proteomes; UP000005640; Chromosome 16.
DR RNAct; Q96A59; protein.
DR Bgee; ENSG00000140832; Expressed in ileal mucosa and 133 other tissues.
DR ExpressionAtlas; Q96A59; baseline and differential.
DR Genevisible; Q96A59; HS.
DR GO; GO:0005923; C:bicellular tight junction; IDA:BHF-UCL.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0031410; C:cytoplasmic vesicle; IDA:UniProtKB.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0031435; F:mitogen-activated protein kinase kinase kinase binding; IDA:MGI.
DR GO; GO:0070830; P:bicellular tight junction assembly; IMP:UniProtKB.
DR GO; GO:0045216; P:cell-cell junction organization; IMP:MGI.
DR GO; GO:0010633; P:negative regulation of epithelial cell migration; IMP:MGI.
DR GO; GO:0050680; P:negative regulation of epithelial cell proliferation; IMP:MGI.
DR GO; GO:0046329; P:negative regulation of JNK cascade; IMP:MGI.
DR GO; GO:1902414; P:protein localization to cell junction; IMP:MGI.
DR GO; GO:0006970; P:response to osmotic stress; IMP:MGI.
DR InterPro; IPR008253; Marvel.
DR PROSITE; PS51225; MARVEL; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Cell junction; Membrane; Reference proteome;
KW Tight junction; Transmembrane; Transmembrane helix.
FT CHAIN 1..401
FT /note="MARVEL domain-containing protein 3"
FT /id="PRO_0000271529"
FT TOPO_DOM 1..226
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 227..247
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 248..271
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 272..292
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 293..300
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 301..321
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 322..360
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 361..381
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 382..401
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT DOMAIN 193..386
FT /note="MARVEL"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00581"
FT REGION 1..173
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1..118
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 145..159
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 102..148
FT /note="GEHGVWEKPRQSRTRDGARGLTWDAAAPPGPAPWEAPEPPQPQRKGD -> V
FT NPLRRDICPRPPGLDERRWNITSQRRKDSWNATNANTCALGEVWCR (in isoform
FT 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_047541"
FT VAR_SEQ 149..401
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_047542"
FT VAR_SEQ 199..401
FT /note="ACCQMLEVLLNLLILACSSVSYSSTGGYTGITSLGGIYYYQFGGAYSGFDGA
FT DGEKAQQLDVQFYQLKLPMVTVAMACSGALTALCCLFVAMGVLRVPWHCPLLLVTEGLL
FT DMLIAGGYIPALYFYFHYLSAAYGSPVCKERQALYQSKGYSGFGCSFHGADIGAGIFAA
FT LGIVVFALGAVLAIKGYRKVRKLKEKPAEMFEF -> GVVQIVEVVLNGMVLICIVASY
FT FVLAGFSASFSSGGGFGNNYYSPFEGTELEQVRQLDQQYTILRSPLIYGGVAVSLGLGV
FT LTMGVLLQGAKSRTMLSGKWLLTEAAFSLLAAVGYCTGIGVYLHVALQINSTDTCKTRE
FT RLYARKGLTWMDCQLAGTDGAAATFACLLVIMYGASVVLALRSYREQKRYKGSREQPGS
FT YSDAPEYLWSGTL (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_022322"
FT VARIANT 60
FT /note="E -> K (in dbSNP:rs4788821)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_029893"
FT CONFLICT Q96A59-2:388
FT /note="Y -> H (in Ref. 1; BAB71294)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 401 AA; 44911 MW; 2E90E20665A9EAD8 CRC64;
MEDPSGAREP RARPRERDPG RRPHPDQGRT HDRPRDRPGD PRRKRSSDGN RRRDGDRDPE
RDQERDGNRD RNRDRERERE RERDPDRGPR RDTHRDAGPR AGEHGVWEKP RQSRTRDGAR
GLTWDAAAPP GPAPWEAPEP PQPQRKGDPG RRRPESEPPS ERYLPSTPRP GREEVEYYQS
EAEGLLECHK CKYLCTGRAC CQMLEVLLNL LILACSSVSY SSTGGYTGIT SLGGIYYYQF
GGAYSGFDGA DGEKAQQLDV QFYQLKLPMV TVAMACSGAL TALCCLFVAM GVLRVPWHCP
LLLVTEGLLD MLIAGGYIPA LYFYFHYLSA AYGSPVCKER QALYQSKGYS GFGCSFHGAD
IGAGIFAALG IVVFALGAVL AIKGYRKVRK LKEKPAEMFE F
