MALD1_HUMAN
ID MALD1_HUMAN Reviewed; 173 AA.
AC Q9BSK0;
DT 09-JAN-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2001, sequence version 1.
DT 03-AUG-2022, entry version 134.
DE RecName: Full=MARVEL domain-containing protein 1;
GN Name=MARVELD1; Synonyms=MRVLDC1;
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 GENOMIC DNA].
RX PubMed=15164054; DOI=10.1038/nature02462;
RA Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N.,
RA Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A.,
RA Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C.,
RA Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D.,
RA Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C.,
RA Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K.,
RA Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A.,
RA Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S.,
RA McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S.,
RA Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V.,
RA Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A.,
RA Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A.,
RA Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P.,
RA Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y.,
RA Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D.,
RA Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 10.";
RL Nature 429:375-381(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain, and Kidney;
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 [3]
RP SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
RX PubMed=19364627; DOI=10.1016/j.canlet.2009.03.008;
RA Wang S., Li Y., Han F., Hu J., Yue L., Yu Y., Zhang Y., He J., Zheng H.,
RA Shi S., Fu X., Wu H.;
RT "Identification and characterization of MARVELD1, a novel nuclear protein
RT that is down-regulated in multiple cancers and silenced by DNA
RT methylation.";
RL Cancer Lett. 282:77-86(2009).
RN [4]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, AND IDENTIFICATION BY MASS
RP SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=22223895; DOI=10.1074/mcp.m111.015131;
RA Bienvenut W.V., Sumpton D., Martinez A., Lilla S., Espagne C., Meinnel T.,
RA Giglione C.;
RT "Comparative large-scale characterisation of plant vs. mammal proteins
RT reveals similar and idiosyncratic N-alpha acetylation features.";
RL Mol. Cell. Proteomics 11:M111.015131-M111.015131(2012).
CC -!- FUNCTION: Microtubule-associated protein that exhibits cell cycle-
CC dependent localization and can inhibit cell proliferation and
CC migration. {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Multi-pass membrane
CC protein {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250}. Nucleus
CC {ECO:0000269|PubMed:19364627}. Note=Observed in the nucleus and at the
CC perinuclear region during interphase, but localizes at the mitotic
CC spindle and midbody at metaphase. A significant fraction of MARVELD1
CC translocates to the plasma membrane during anaphase or upon microtubule
CC depolymerization (By similarity). {ECO:0000250}.
CC -!- TISSUE SPECIFICITY: Widely expressed in normal tissues. Down-regulated
CC in multiple primary tumors. {ECO:0000269|PubMed:19364627}.
CC -!- MISCELLANEOUS: Down-regulated in primary multiple tumors derived from
CC ovary, vulva, uterus, cervix, breast, testis, kidney bladder and liver.
CC The reduced expression is owing to DNA methylation and could be
CC reversed by pharmacologic demethylation (PubMed:19364627).
CC {ECO:0000305|PubMed:19364627}.
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DR EMBL; AL355315; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC004995; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; BC062544; -; NOT_ANNOTATED_CDS; mRNA.
DR RefSeq; NP_113672.1; NM_031484.3.
DR AlphaFoldDB; Q9BSK0; -.
DR BioGRID; 123750; 1.
DR STRING; 9606.ENSP00000441365; -.
DR iPTMnet; Q9BSK0; -.
DR PhosphoSitePlus; Q9BSK0; -.
DR SwissPalm; Q9BSK0; -.
DR BioMuta; MARVELD1; -.
DR DMDM; 74752303; -.
DR MassIVE; Q9BSK0; -.
DR PaxDb; Q9BSK0; -.
DR PeptideAtlas; Q9BSK0; -.
DR PRIDE; Q9BSK0; -.
DR ProteomicsDB; 78908; -.
DR Antibodypedia; 56528; 74 antibodies from 19 providers.
DR DNASU; 83742; -.
DR Ensembl; ENST00000285605.8; ENSP00000441365.1; ENSG00000155254.13.
DR GeneID; 83742; -.
DR KEGG; hsa:83742; -.
DR MANE-Select; ENST00000285605.8; ENSP00000441365.1; NM_031484.4; NP_113672.1.
DR UCSC; uc001koj.5; human.
DR CTD; 83742; -.
DR DisGeNET; 83742; -.
DR GeneCards; MARVELD1; -.
DR HGNC; HGNC:28674; MARVELD1.
DR HPA; ENSG00000155254; Low tissue specificity.
DR neXtProt; NX_Q9BSK0; -.
DR OpenTargets; ENSG00000155254; -.
DR PharmGKB; PA134937190; -.
DR VEuPathDB; HostDB:ENSG00000155254; -.
DR eggNOG; KOG4788; Eukaryota.
DR GeneTree; ENSGT00510000049375; -.
DR HOGENOM; CLU_138621_0_0_1; -.
DR InParanoid; Q9BSK0; -.
DR OMA; RWLCTNL; -.
DR OrthoDB; 1449334at2759; -.
DR PhylomeDB; Q9BSK0; -.
DR TreeFam; TF316174; -.
DR PathwayCommons; Q9BSK0; -.
DR SignaLink; Q9BSK0; -.
DR BioGRID-ORCS; 83742; 6 hits in 257 CRISPR screens.
DR GenomeRNAi; 83742; -.
DR Pharos; Q9BSK0; Tbio.
DR PRO; PR:Q9BSK0; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; Q9BSK0; protein.
DR Bgee; ENSG00000155254; Expressed in upper arm skin and 182 other tissues.
DR Genevisible; Q9BSK0; HS.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-KW.
DR GO; GO:0005856; C:cytoskeleton; IEA:UniProtKB-SubCell.
DR GO; GO:0016021; C:integral component of membrane; IBA:GO_Central.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0005886; C:plasma membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0019911; F:structural constituent of myelin sheath; IBA:GO_Central.
DR GO; GO:0007049; P:cell cycle; IEA:UniProtKB-KW.
DR GO; GO:0042552; P:myelination; IBA:GO_Central.
DR InterPro; IPR008253; Marvel.
DR Pfam; PF01284; MARVEL; 1.
DR PROSITE; PS51225; MARVEL; 1.
PE 1: Evidence at protein level;
KW Acetylation; Cell cycle; Cell membrane; Cytoplasm; Cytoskeleton; Membrane;
KW Nucleus; Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1..173
FT /note="MARVEL domain-containing protein 1"
FT /id="PRO_0000271522"
FT TOPO_DOM 1..29
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 30..50
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 51..59
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 60..80
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 81..94
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 95..115
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 116..138
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 139..159
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 160..173
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT DOMAIN 26..166
FT /note="MARVEL"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00581"
FT MOD_RES 1
FT /note="N-acetylmethionine"
FT /evidence="ECO:0007744|PubMed:22223895"
SQ SEQUENCE 173 AA; 18914 MW; D39B3DBF06EB32EA CRC64;
MLPPPPRQPP PQARAARGAV RLQRPFLRSP LGVLRLLQLL AGAAFWITIA TSKYQGPVHF
ALFVSVLFWL LTLGLYFLTL LGKHELVPVL GSRWLMVNVA HDVLAAALYG AATGIMSDQM
QRHSYCNLKD YPLPCAYHAF LAAAVCGGVC HGLYLLSALY GCGRRCQGKQ EVA
