MAEL_HUMAN
ID MAEL_HUMAN Reviewed; 434 AA.
AC Q96JY0; B4DY43; E9JVC3; Q49AP9; Q5VZP8; Q9UIW6;
DT 18-APR-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2001, sequence version 1.
DT 03-AUG-2022, entry version 158.
DE RecName: Full=Protein maelstrom homolog;
GN Name=MAEL;
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), AND TISSUE SPECIFICITY.
RC TISSUE=Testis;
RA Zhou J., Zhang J.;
RT "MAEL, a gene expressed specifically in testis.";
RL Submitted (MAY-2005) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
RC TISSUE=Testis;
RA Zhou J., Xiao L., Sun W., Wang L., Wu Y., Qiao X., Zhang J.;
RT "Identification of alternative splicing variants of MAEL gene.";
RL Submitted (JAN-2010) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Placenta, and Testis;
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=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3).
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 NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 59-434 (ISOFORM 1).
RC TISSUE=Testis;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [7]
RP TISSUE SPECIFICITY.
RX PubMed=19693694; DOI=10.1007/s11033-009-9741-x;
RA Xiao L., Wang Y., Zhou Y., Sun Y., Sun W., Wang L., Zhou C., Zhou J.,
RA Zhang J.;
RT "Identification of a novel human cancer/testis gene MAEL that is regulated
RT by DNA methylation.";
RL Mol. Biol. Rep. 37:2355-2360(2010).
RN [8]
RP STRUCTURE BY NMR OF 1-80.
RG RIKEN structural genomics initiative (RSGI);
RT "Solution structure of the HMG box-like domain from human hypothetical
RT protein FLJ14904.";
RL Submitted (NOV-2005) to the PDB data bank.
CC -!- FUNCTION: Plays a central role during spermatogenesis by repressing
CC transposable elements and preventing their mobilization, which is
CC essential for the germline integrity. Acts via the piRNA metabolic
CC process, which mediates the repression of transposable elements during
CC meiosis by forming complexes composed of piRNAs and Piwi proteins and
CC governs the methylation and subsequent repression of transposons. Its
CC association with piP-bodies suggests a participation in the secondary
CC piRNAs metabolic process. Required for the localization of germ-cell
CC factors to the meiotic nuage (By similarity).
CC {ECO:0000250|UniProtKB:Q8BVN9}.
CC -!- SUBUNIT: Interacts with SMARCB1, SIN3B and DDX4. Interacts with piRNA-
CC associated proteins TDRD1, PIWIL1 and PIWIL2 (By similarity). Interacts
CC with TEX19 (By similarity). {ECO:0000250|UniProtKB:Q8BVN9}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q8BVN9}. Nucleus
CC {ECO:0000250|UniProtKB:Q8BVN9}. Note=Component of the meiotic nuage,
CC also named P granule, a germ-cell-specific organelle required to
CC repress transposon activity during meiosis. Specifically localizes to
CC piP-bodies, a subset of the nuage which contains secondary piRNAs (By
CC similarity). {ECO:0000250|UniProtKB:Q8BVN9}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q96JY0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96JY0-2; Sequence=VSP_036661;
CC Name=3;
CC IsoId=Q96JY0-3; Sequence=VSP_036660, VSP_036662;
CC -!- TISSUE SPECIFICITY: Testis-specific. Expressed in various cancer cell
CC lines, probably due to demethylation of its promoter.
CC {ECO:0000269|PubMed:19693694, ECO:0000269|Ref.1}.
CC -!- SIMILARITY: Belongs to the maelstrom family. {ECO:0000305}.
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DR EMBL; DQ076156; AAY82463.1; -; mRNA.
DR EMBL; GU383113; ADU33235.1; -; mRNA.
DR EMBL; AK027810; BAB55385.1; -; mRNA.
DR EMBL; AK302253; BAG63605.1; -; mRNA.
DR EMBL; AL158837; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC028595; AAH28595.1; -; mRNA.
DR EMBL; BC034310; AAH34310.1; -; mRNA.
DR EMBL; AL133073; CAB61396.1; -; mRNA.
DR CCDS; CCDS1257.1; -. [Q96JY0-1]
DR CCDS; CCDS65712.1; -. [Q96JY0-2]
DR PIR; T42673; T42673.
DR RefSeq; NP_001273306.1; NM_001286377.1. [Q96JY0-2]
DR RefSeq; NP_001273307.1; NM_001286378.1.
DR RefSeq; NP_116247.1; NM_032858.2. [Q96JY0-1]
DR PDB; 2CTO; NMR; -; A=1-80.
DR PDBsum; 2CTO; -.
DR AlphaFoldDB; Q96JY0; -.
DR BMRB; Q96JY0; -.
DR SMR; Q96JY0; -.
DR BioGRID; 124377; 20.
DR IntAct; Q96JY0; 2.
DR STRING; 9606.ENSP00000356846; -.
DR iPTMnet; Q96JY0; -.
DR PhosphoSitePlus; Q96JY0; -.
DR BioMuta; MAEL; -.
DR DMDM; 74760900; -.
DR MassIVE; Q96JY0; -.
DR PaxDb; Q96JY0; -.
DR PeptideAtlas; Q96JY0; -.
DR PRIDE; Q96JY0; -.
DR ProteomicsDB; 77014; -. [Q96JY0-1]
DR ProteomicsDB; 77015; -. [Q96JY0-2]
DR ProteomicsDB; 77016; -. [Q96JY0-3]
DR Antibodypedia; 34338; 69 antibodies from 21 providers.
DR DNASU; 84944; -.
DR Ensembl; ENST00000367870.6; ENSP00000356844.2; ENSG00000143194.13. [Q96JY0-2]
DR Ensembl; ENST00000367872.9; ENSP00000356846.4; ENSG00000143194.13. [Q96JY0-1]
DR GeneID; 84944; -.
DR KEGG; hsa:84944; -.
DR MANE-Select; ENST00000367872.9; ENSP00000356846.4; NM_032858.3; NP_116247.1.
DR UCSC; uc001gdy.3; human. [Q96JY0-1]
DR CTD; 84944; -.
DR DisGeNET; 84944; -.
DR GeneCards; MAEL; -.
DR HGNC; HGNC:25929; MAEL.
DR HPA; ENSG00000143194; Tissue enriched (testis).
DR MIM; 611368; gene.
DR neXtProt; NX_Q96JY0; -.
DR OpenTargets; ENSG00000143194; -.
DR PharmGKB; PA142671488; -.
DR VEuPathDB; HostDB:ENSG00000143194; -.
DR eggNOG; ENOG502QTQB; Eukaryota.
DR GeneTree; ENSGT00390000003645; -.
DR InParanoid; Q96JY0; -.
DR OMA; GARNAYY; -.
DR OrthoDB; 457764at2759; -.
DR PhylomeDB; Q96JY0; -.
DR TreeFam; TF323573; -.
DR PathwayCommons; Q96JY0; -.
DR Reactome; R-HSA-5601884; PIWI-interacting RNA (piRNA) biogenesis.
DR SignaLink; Q96JY0; -.
DR BioGRID-ORCS; 84944; 10 hits in 1071 CRISPR screens.
DR ChiTaRS; MAEL; human.
DR EvolutionaryTrace; Q96JY0; -.
DR GenomeRNAi; 84944; -.
DR Pharos; Q96JY0; Tbio.
DR PRO; PR:Q96JY0; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q96JY0; protein.
DR Bgee; ENSG00000143194; Expressed in secondary oocyte and 114 other tissues.
DR ExpressionAtlas; Q96JY0; baseline and differential.
DR Genevisible; Q96JY0; HS.
DR GO; GO:0030849; C:autosome; IEA:Ensembl.
DR GO; GO:0000785; C:chromatin; IEA:Ensembl.
DR GO; GO:0033391; C:chromatoid body; IEA:Ensembl.
DR GO; GO:0005737; C:cytoplasm; ISS:UniProtKB.
DR GO; GO:0001673; C:male germ cell nucleus; IEA:Ensembl.
DR GO; GO:0005634; C:nucleus; ISS:UniProtKB.
DR GO; GO:0043186; C:P granule; ISS:UniProtKB.
DR GO; GO:0048471; C:perinuclear region of cytoplasm; IEA:Ensembl.
DR GO; GO:0071547; C:piP-body; ISS:UniProtKB.
DR GO; GO:0001741; C:XY body; IEA:Ensembl.
DR GO; GO:0043565; F:sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:0000902; P:cell morphogenesis; IEA:Ensembl.
DR GO; GO:0043046; P:DNA methylation involved in gamete generation; ISS:UniProtKB.
DR GO; GO:0035234; P:ectopic germ cell programmed cell death; IEA:Ensembl.
DR GO; GO:0009566; P:fertilization; IEA:Ensembl.
DR GO; GO:0010467; P:gene expression; IEA:Ensembl.
DR GO; GO:0031047; P:gene silencing by RNA; ISS:UniProtKB.
DR GO; GO:0007129; P:homologous chromosome pairing at meiosis; IEA:Ensembl.
DR GO; GO:0008630; P:intrinsic apoptotic signaling pathway in response to DNA damage; IEA:Ensembl.
DR GO; GO:0007140; P:male meiotic nuclear division; IBA:GO_Central.
DR GO; GO:0043066; P:negative regulation of apoptotic process; IEA:Ensembl.
DR GO; GO:0051093; P:negative regulation of developmental process; IEA:Ensembl.
DR GO; GO:2000242; P:negative regulation of reproductive process; IEA:Ensembl.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; IEA:Ensembl.
DR GO; GO:0045892; P:negative regulation of transcription, DNA-templated; IBA:GO_Central.
DR GO; GO:0034587; P:piRNA metabolic process; ISS:UniProtKB.
DR GO; GO:0060964; P:regulation of miRNA-mediated gene silencing; IEA:InterPro.
DR GO; GO:0046620; P:regulation of organ growth; IEA:Ensembl.
DR GO; GO:0007283; P:spermatogenesis; ISS:UniProtKB.
DR Gene3D; 1.10.30.10; -; 1.
DR InterPro; IPR009071; HMG_box_dom.
DR InterPro; IPR036910; HMG_box_dom_sf.
DR InterPro; IPR024970; Maelstrom.
DR InterPro; IPR039259; Protein_maelstrom.
DR PANTHER; PTHR21358; PTHR21358; 1.
DR Pfam; PF09011; HMG_box_2; 1.
DR Pfam; PF13017; Maelstrom; 1.
DR SUPFAM; SSF47095; SSF47095; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; Cytoplasm; Developmental protein;
KW Differentiation; DNA-binding; Meiosis; Nucleus; Reference proteome;
KW RNA-mediated gene silencing; Spermatogenesis.
FT CHAIN 1..434
FT /note="Protein maelstrom homolog"
FT /id="PRO_0000232501"
FT DNA_BIND 4..73
FT /note="HMG box"
FT REGION 357..385
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..278
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334, ECO:0000303|Ref.2"
FT /id="VSP_036660"
FT VAR_SEQ 45..75
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000305"
FT /id="VSP_036661"
FT VAR_SEQ 279..281
FT /note="SNT -> MIQ (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334, ECO:0000303|Ref.2"
FT /id="VSP_036662"
FT VARIANT 41
FT /note="S -> A (in dbSNP:rs11578336)"
FT /id="VAR_034103"
FT HELIX 10..16
FT /evidence="ECO:0007829|PDB:2CTO"
FT HELIX 19..25
FT /evidence="ECO:0007829|PDB:2CTO"
FT HELIX 32..35
FT /evidence="ECO:0007829|PDB:2CTO"
FT HELIX 37..39
FT /evidence="ECO:0007829|PDB:2CTO"
FT HELIX 40..45
FT /evidence="ECO:0007829|PDB:2CTO"
FT HELIX 48..67
FT /evidence="ECO:0007829|PDB:2CTO"
SQ SEQUENCE 434 AA; 49219 MW; BBC8319985857A4E CRC64;
MPNRKASRNA YYFFVQEKIP ELRRRGLPVA RVADAIPYCS SDWALLREEE KEKYAEMARE
WRAAQGKDPG PSEKQKPVFT PLRRPGMLVP KQNVSPPDMS ALSLKGDQAL LGGIFYFLNI
FSHGELPPHC EQRFLPCEIG CVKYSLQEGI MADFHSFINP GEIPRGFRFH CQAASDSSHK
IPISNFERGH NQATVLQNLY RFIHPNPGNW PPIYCKSDDR TRVNWCLKHM AKASEIRQDL
QLLTVEDLVV GIYQQKFLKE PSKTWIRSLL DVAMWDYSSN TRCKWHEEND ILFCALAVCK
KIAYCISNSL ATLFGIQLTE AHVPLQDYEA SNSVTPKMVV LDAGRYQKLR VGSSGFSHFN
SSNEEQRSNT PIGDYPSRAK ISGQNSSVRG RGITRLLESI SNSSSNIHKF SNCDTSLSPY
MSQKDGYKSF SSLS
