GenomeNet

Database: UniProt
Entry: X6RGB1_HUMAN
LinkDB: X6RGB1_HUMAN
Original site: X6RGB1_HUMAN 
ID   X6RGB1_HUMAN            Unreviewed;       316 AA.
AC   X6RGB1;
DT   11-JUN-2014, integrated into UniProtKB/TrEMBL.
DT   11-JUN-2014, sequence version 1.
DT   24-JAN-2024, entry version 51.
DE   RecName: Full=Protein maelstrom homolog {ECO:0000256|ARBA:ARBA00021076};
DE   Flags: Fragment;
GN   Name=MAEL {ECO:0000313|Ensembl:ENSP00000402143.1};
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 {ECO:0000313|Ensembl:ENSP00000402143.1, ECO:0000313|Proteomes:UP000005640};
RN   [1] {ECO:0000313|Ensembl:ENSP00000402143.1, ECO:0000313|Proteomes:UP000005640}
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., 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., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H.,
RA   Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D.,
RA   Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C.,
RA   Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R.,
RA   Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A.,
RA   Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.,
RA   Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V.,
RA   Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.,
RA   Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R.,
RA   Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D.,
RA   Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A.,
RA   Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M.,
RA   Loveland J., Lovell J., Lush M.J., Lyne R., Martin S.,
RA   Mashreghi-Mohammadi M., Matthews L., Matthews N.S., McLaren S., Milne S.,
RA   Mistry S., Moore M.J., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A.,
RA   Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S.,
RA   Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G.,
RA   Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S.,
RA   Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A.,
RA   Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L.,
RA   Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z.,
RA   Coulson A., Vaudin M., Sulston J.E., Durbin R., Hubbard T., Wooster R.,
RA   Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V.,
RA   Beck S., Rogers J., Bentley D.R., Banerjee R., Bryant S.P., Burford D.C.,
RA   Burrill W.D., Clegg S.M., Dhami P., Dovey O., Faulkner L.M., Gribble S.M.,
RA   Langford C.F., Pandian R.D., Porter K.M., Prigmore E.;
RT   "The DNA sequence and biological annotation of human chromosome 1.";
RL   Nature 441:315-321(2006).
RN   [2] {ECO:0000313|Ensembl:ENSP00000402143.1}
RP   IDENTIFICATION.
RG   Ensembl;
RL   Submitted (SEP-2023) to UniProtKB.
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. {ECO:0000256|ARBA:ARBA00025698}.
CC   -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000256|ARBA:ARBA00004496}.
CC       Nucleus {ECO:0000256|ARBA:ARBA00004123}.
CC   -!- SIMILARITY: Belongs to the maelstrom family.
CC       {ECO:0000256|ARBA:ARBA00007057}.
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DR   EMBL; AL009182; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AL158837; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   AlphaFoldDB; X6RGB1; -.
DR   SMR; X6RGB1; -.
DR   MassIVE; X6RGB1; -.
DR   PeptideAtlas; X6RGB1; -.
DR   Antibodypedia; 34338; 82 antibodies from 21 providers.
DR   Ensembl; ENST00000447624.1; ENSP00000402143.1; ENSG00000143194.13.
DR   UCSC; uc057nan.1; human.
DR   HGNC; HGNC:25929; MAEL.
DR   VEuPathDB; HostDB:ENSG00000143194; -.
DR   GeneTree; ENSGT00390000003645; -.
DR   HOGENOM; CLU_051692_0_0_1; -.
DR   ChiTaRS; MAEL; human.
DR   Proteomes; UP000005640; Chromosome 1.
DR   Bgee; ENSG00000143194; Expressed in secondary oocyte and 116 other cell types or tissues.
DR   ExpressionAtlas; X6RGB1; baseline and differential.
DR   GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR   GO; GO:0051321; P:meiotic cell cycle; IEA:UniProtKB-KW.
DR   GO; GO:0060964; P:regulation of miRNA-mediated gene silencing; IEA:InterPro.
DR   GO; GO:0031047; P:regulatory ncRNA-mediated gene silencing; IEA:UniProtKB-KW.
DR   Gene3D; 1.10.30.10; High mobility group box domain; 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; PROTEIN MAELSTROM HOMOLOG; 1.
DR   PANTHER; PTHR21358:SF4; PROTEIN MAELSTROM HOMOLOG; 1.
DR   Pfam; PF09011; HMG_box_2; 1.
DR   Pfam; PF13017; Maelstrom; 1.
PE   1: Evidence at protein level;
KW   Cytoplasm {ECO:0000256|ARBA:ARBA00022490};
KW   Developmental protein {ECO:0000256|ARBA:ARBA00022473};
KW   DNA-binding {ECO:0000256|ARBA:ARBA00023125};
KW   Meiosis {ECO:0000256|ARBA:ARBA00023254};
KW   Nucleus {ECO:0000256|ARBA:ARBA00023242};
KW   Proteomics identification {ECO:0007829|PeptideAtlas:X6RGB1,
KW   ECO:0007829|ProteomicsDB:X6RGB1};
KW   Reference proteome {ECO:0000313|Proteomes:UP000005640};
KW   RNA-mediated gene silencing {ECO:0000256|ARBA:ARBA00023158}.
FT   DOMAIN          2..44
FT                   /note="HMG box"
FT                   /evidence="ECO:0000259|Pfam:PF09011"
FT   DOMAIN          99..295
FT                   /note="Maelstrom"
FT                   /evidence="ECO:0000259|Pfam:PF13017"
FT   NON_TER         316
FT                   /evidence="ECO:0000313|Ensembl:ENSP00000402143.1"
SQ   SEQUENCE   316 AA;  36098 MW;  97CF61A4C53B3182 CRC64;
     MPNRKASRNA YYFFVQEKIP ELRRRGLPVA RVADAIPYCS SDWAKPVFTP LRRPGMLVPK
     QNVSPPDMSA LSLKGDQALL GGIFYFLNIF SHGELPPHCE QRFLPCEIGC VKYSLQEGIM
     ADFHSFINPG EIPRGFRFHC QAASDSSHKI PISNFERGHN QATVLQNLYR FIHPNPGNWP
     PIYCKSDDRT RVNWCLKHMA KASEIRQDLQ LLTVEDLVVG IYQQKFLKEP SKTWIRSLLD
     VAMWDYSSNT RCKWHEENDI LFCALAVCKK IAYCISNSLA TLFGIQLTEA HVPLQDYEAS
     NSVTPKMVVL DAGRYQ
//
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