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2024-04-26 18:31:35, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_014061 1475 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens melanoma antigen family H, 1 (MAGEH1), mRNA.
ACCESSION NM_014061
VERSION NM_014061.3 GI:18105051
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 1475)
AUTHORS Selimovic,D., Sprenger,A., Hannig,M., Haikel,Y. and Hassan,M.
TITLE Apoptosis related protein-1 triggers melanoma cell death via
interaction with the juxtamembrane region of p75 neurotrophin
receptor
JOURNAL J. Cell. Mol. Med. 16 (2), 349-361 (2012)
PUBMED 21418516
REMARK GeneRIF: The induction of APR-1 expression caused apoptosis of
melanoma cells via the interaction with the juxtamembrane region of
p75 neurotrophin receptor.
REFERENCE 2 (bases 1 to 1475)
AUTHORS Fu,H., Yang,G., Lu,F., Wang,R., Yao,L. and Lu,Z.
TITLE Transcriptional up-regulation of restin by all-trans retinoic acid
through STAT1 in cancer cell differentiation process
JOURNAL Biochem. Biophys. Res. Commun. 343 (4), 1009-1016 (2006)
PUBMED 16574066
REFERENCE 3 (bases 1 to 1475)
AUTHORS Ross,M.T., Grafham,D.V., Coffey,A.J., Scherer,S., McLay,K.,
Muzny,D., Platzer,M., Howell,G.R., Burrows,C., Bird,C.P.,
Frankish,A., Lovell,F.L., Howe,K.L., Ashurst,J.L., Fulton,R.S.,
Sudbrak,R., Wen,G., Jones,M.C., Hurles,M.E., Andrews,T.D.,
Scott,C.E., Searle,S., Ramser,J., Whittaker,A., Deadman,R.,
Carter,N.P., Hunt,S.E., Chen,R., Cree,A., Gunaratne,P., Havlak,P.,
Hodgson,A., Metzker,M.L., Richards,S., Scott,G., Steffen,D.,
Sodergren,E., Wheeler,D.A., Worley,K.C., Ainscough,R.,
Ambrose,K.D., Ansari-Lari,M.A., Aradhya,S., Ashwell,R.I.,
Babbage,A.K., Bagguley,C.L., Ballabio,A., Banerjee,R., Barker,G.E.,
Barlow,K.F., Barrett,I.P., Bates,K.N., Beare,D.M., Beasley,H.,
Beasley,O., Beck,A., Bethel,G., Blechschmidt,K., Brady,N.,
Bray-Allen,S., Bridgeman,A.M., Brown,A.J., Brown,M.J., Bonnin,D.,
Bruford,E.A., Buhay,C., Burch,P., Burford,D., Burgess,J.,
Burrill,W., Burton,J., Bye,J.M., Carder,C., Carrel,L., Chako,J.,
Chapman,J.C., Chavez,D., Chen,E., Chen,G., Chen,Y., Chen,Z.,
Chinault,C., Ciccodicola,A., Clark,S.Y., Clarke,G., Clee,C.M.,
Clegg,S., Clerc-Blankenburg,K., Clifford,K., Cobley,V., Cole,C.G.,
Conquer,J.S., Corby,N., Connor,R.E., David,R., Davies,J., Davis,C.,
Davis,J., Delgado,O., Deshazo,D., Dhami,P., Ding,Y., Dinh,H.,
Dodsworth,S., Draper,H., Dugan-Rocha,S., Dunham,A., Dunn,M.,
Durbin,K.J., Dutta,I., Eades,T., Ellwood,M., Emery-Cohen,A.,
Errington,H., Evans,K.L., Faulkner,L., Francis,F., Frankland,J.,
Fraser,A.E., Galgoczy,P., Gilbert,J., Gill,R., Glockner,G.,
Gregory,S.G., Gribble,S., Griffiths,C., Grocock,R., Gu,Y.,
Gwilliam,R., Hamilton,C., Hart,E.A., Hawes,A., Heath,P.D.,
Heitmann,K., Hennig,S., Hernandez,J., Hinzmann,B., Ho,S., Hoffs,M.,
Howden,P.J., Huckle,E.J., Hume,J., Hunt,P.J., Hunt,A.R.,
Isherwood,J., Jacob,L., Johnson,D., Jones,S., de Jong,P.J.,
Joseph,S.S., Keenan,S., Kelly,S., Kershaw,J.K., Khan,Z.,
Kioschis,P., Klages,S., Knights,A.J., Kosiura,A., Kovar-Smith,C.,
Laird,G.K., Langford,C., Lawlor,S., Leversha,M., Lewis,L., Liu,W.,
Lloyd,C., Lloyd,D.M., Loulseged,H., Loveland,J.E., Lovell,J.D.,
Lozado,R., Lu,J., Lyne,R., Ma,J., Maheshwari,M., Matthews,L.H.,
McDowall,J., McLaren,S., McMurray,A., Meidl,P., Meitinger,T.,
Milne,S., Miner,G., Mistry,S.L., Morgan,M., Morris,S., Muller,I.,
Mullikin,J.C., Nguyen,N., Nordsiek,G., Nyakatura,G., O'Dell,C.N.,
Okwuonu,G., Palmer,S., Pandian,R., Parker,D., Parrish,J.,
Pasternak,S., Patel,D., Pearce,A.V., Pearson,D.M., Pelan,S.E.,
Perez,L., Porter,K.M., Ramsey,Y., Reichwald,K., Rhodes,S.,
Ridler,K.A., Schlessinger,D., Schueler,M.G., Sehra,H.K.,
Shaw-Smith,C., Shen,H., Sheridan,E.M., Shownkeen,R., Skuce,C.D.,
Smith,M.L., Sotheran,E.C., Steingruber,H.E., Steward,C.A.,
Storey,R., Swann,R.M., Swarbreck,D., Tabor,P.E., Taudien,S.,
Taylor,T., Teague,B., Thomas,K., Thorpe,A., Timms,K., Tracey,A.,
Trevanion,S., Tromans,A.C., d'Urso,M., Verduzco,D., Villasana,D.,
Waldron,L., Wall,M., Wang,Q., Warren,J., Warry,G.L., Wei,X.,
West,A., Whitehead,S.L., Whiteley,M.N., Wilkinson,J.E.,
Willey,D.L., Williams,G., Williams,L., Williamson,A.,
Williamson,H., Wilming,L., Woodmansey,R.L., Wray,P.W., Yen,J.,
Zhang,J., Zhou,J., Zoghbi,H., Zorilla,S., Buck,D., Reinhardt,R.,
Poustka,A., Rosenthal,A., Lehrach,H., Meindl,A., Minx,P.J.,
Hillier,L.W., Willard,H.F., Wilson,R.K., Waterston,R.H., Rice,C.M.,
Vaudin,M., Coulson,A., Nelson,D.L., Weinstock,G., Sulston,J.E.,
Durbin,R., Hubbard,T., Gibbs,R.A., Beck,S., Rogers,J. and
Bentley,D.R.
TITLE The DNA sequence of the human X chromosome
JOURNAL Nature 434 (7031), 325-337 (2005)
PUBMED 15772651
REFERENCE 4 (bases 1 to 1475)
AUTHORS Goehler,H., Lalowski,M., Stelzl,U., Waelter,S., Stroedicke,M.,
Worm,U., Droege,A., Lindenberg,K.S., Knoblich,M., Haenig,C.,
Herbst,M., Suopanki,J., Scherzinger,E., Abraham,C., Bauer,B.,
Hasenbank,R., Fritzsche,A., Ludewig,A.H., Bussow,K., Coleman,S.H.,
Gutekunst,C.A., Landwehrmeyer,B.G., Lehrach,H. and Wanker,E.E.
TITLE A protein interaction network links GIT1, an enhancer of huntingtin
aggregation, to Huntington's disease
JOURNAL Mol. Cell 15 (6), 853-865 (2004)
PUBMED 15383276
REMARK Erratum:[Mol Cell. 2005 Jul 22;19(2):287. Buessow, Konrad
[corrected to Bussow, Konrad]]
REFERENCE 5 (bases 1 to 1475)
AUTHORS Tcherpakov,M., Bronfman,F.C., Conticello,S.G., Vaskovsky,A.,
Levy,Z., Niinobe,M., Yoshikawa,K., Arenas,E. and Fainzilber,M.
TITLE The p75 neurotrophin receptor interacts with multiple MAGE proteins
JOURNAL J. Biol. Chem. 277 (51), 49101-49104 (2002)
PUBMED 12414813
REFERENCE 6 (bases 1 to 1475)
AUTHORS Zhao,Z., Lu,F., Zhu,F., Yang,H., Chai,Y. and Chen,S.
TITLE Cloning and biological comparison of Restin, novel member of Mage
superfamily
JOURNAL Sci. China, C, Life Sci. 45 (4), 412-420 (2002)
PUBMED 18759029
REFERENCE 7 (bases 1 to 1475)
AUTHORS Chomez,P., De Backer,O., Bertrand,M., De Plaen,E., Boon,T. and
Lucas,S.
TITLE An overview of the MAGE gene family with the identification of all
human members of the family
JOURNAL Cancer Res. 61 (14), 5544-5551 (2001)
PUBMED 11454705
REFERENCE 8 (bases 1 to 1475)
AUTHORS Zhu,F., Yan,W., Zhao,Z.L., Chai,Y.B., Lu,F., Wang,Q., Peng,W.D.,
Yang,A.G. and Wang,C.J.
TITLE Improved PCR-based subtractive hybridization strategy for cloning
differentially expressed genes
JOURNAL BioTechniques 29 (2), 310-313 (2000)
PUBMED 10948432
REFERENCE 9 (bases 1 to 1475)
AUTHORS Lucas,S., De Smet,C., Arden,K.C., Viars,C.S., Lethe,B., Lurquin,C.
and Boon,T.
TITLE Identification of a new MAGE gene with tumor-specific expression by
representational difference analysis
JOURNAL Cancer Res. 58 (4), 743-752 (1998)
PUBMED 9485030
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AF143235.4 and AF320912.1.
This sequence is a reference standard in the RefSeqGene project.
On Jan 10, 2002 this sequence version replaced gi:15042940.
Summary: This gene is thought to be involved in apoptosis. Multiple
polyadenylation sites have been found for this gene. [provided by
RefSeq, Jul 2008].
##Evidence-Data-START##
Transcript exon combination :: AF143235.4 [ECO:0000332]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
FEATURES Location/Qualifiers
source 1..1475
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="X"
/map="Xp11.21"
gene 1..1475
/gene="MAGEH1"
/gene_synonym="APR-1; APR1; MAGEH"
/note="melanoma antigen family H, 1"
/db_xref="GeneID:28986"
/db_xref="HGNC:24092"
/db_xref="HPRD:06633"
/db_xref="MIM:300548"
exon 1..1462
/gene="MAGEH1"
/gene_synonym="APR-1; APR1; MAGEH"
/inference="alignment:Splign:1.39.8"
variation 58
/gene="MAGEH1"
/gene_synonym="APR-1; APR1; MAGEH"
/replace="g"
/replace="t"
/db_xref="dbSNP:375259256"
misc_feature 193..195
/gene="MAGEH1"
/gene_synonym="APR-1; APR1; MAGEH"
/note="upstream in-frame stop codon"
variation 207
/gene="MAGEH1"
/gene_synonym="APR-1; APR1; MAGEH"
/replace="c"
/replace="t"
/db_xref="dbSNP:191481220"
variation 211
/gene="MAGEH1"
/gene_synonym="APR-1; APR1; MAGEH"
/replace="a"
/replace="g"
/db_xref="dbSNP:182118210"
variation 256
/gene="MAGEH1"
/gene_synonym="APR-1; APR1; MAGEH"
/replace="a"
/replace="c"
/db_xref="dbSNP:200123910"
variation 260
/gene="MAGEH1"
/gene_synonym="APR-1; APR1; MAGEH"
/replace="c"
/replace="t"
/db_xref="dbSNP:367688659"
CDS 271..930
/gene="MAGEH1"
/gene_synonym="APR-1; APR1; MAGEH"
/note="restin; apoptosis-related protein 1"
/codon_start=1
/product="melanoma-associated antigen H1"
/protein_id="NP_054780.2"
/db_xref="GI:15042941"
/db_xref="CCDS:CCDS14369.1"
/db_xref="GeneID:28986"
/db_xref="HGNC:24092"
/db_xref="HPRD:06633"
/db_xref="MIM:300548"
/translation="
MPRGRKSRRRRNARAAEENRNNRKIQASEASETPMAASVVASTPEDDLSGPEEDPSTPEEASTTPEEASSTAQAQKPSVPRSNFQGTKKSLLMSILALIFIMGNSAKEALVWKVLGKLGMQPGRQHSIFGDPKKIVTEEFVRRGYLIYKPVPRSSPVEYEFFWGPRAHVESSKLKVMHFVARVRNRCSKDWPCNYDWDSDDDAEVEAILNSGARGYSAP
"
misc_feature <532..798
/gene="MAGEH1"
/gene_synonym="APR-1; APR1; MAGEH"
/note="MAGE family; Region: MAGE; pfam01454"
/db_xref="CDD:201804"
variation 301
/gene="MAGEH1"
/gene_synonym="APR-1; APR1; MAGEH"
/replace="c"
/replace="t"
/db_xref="dbSNP:370434311"
variation 332
/gene="MAGEH1"
/gene_synonym="APR-1; APR1; MAGEH"
/replace="a"
/replace="c"
/db_xref="dbSNP:148527152"
variation 357
/gene="MAGEH1"
/gene_synonym="APR-1; APR1; MAGEH"
/replace="a"
/replace="g"
/db_xref="dbSNP:186314015"
variation 360
/gene="MAGEH1"
/gene_synonym="APR-1; APR1; MAGEH"
/replace="c"
/replace="t"
/db_xref="dbSNP:142873199"
variation 423
/gene="MAGEH1"
/gene_synonym="APR-1; APR1; MAGEH"
/replace="c"
/replace="t"
/db_xref="dbSNP:147296374"
variation 546
/gene="MAGEH1"
/gene_synonym="APR-1; APR1; MAGEH"
/replace="a"
/replace="g"
/db_xref="dbSNP:191607578"
variation 578
/gene="MAGEH1"
/gene_synonym="APR-1; APR1; MAGEH"
/replace="a"
/replace="g"
/db_xref="dbSNP:182047410"
variation 624
/gene="MAGEH1"
/gene_synonym="APR-1; APR1; MAGEH"
/replace="a"
/replace="g"
/db_xref="dbSNP:140966823"
variation 636
/gene="MAGEH1"
/gene_synonym="APR-1; APR1; MAGEH"
/replace="c"
/replace="t"
/db_xref="dbSNP:375199093"
variation 676
/gene="MAGEH1"
/gene_synonym="APR-1; APR1; MAGEH"
/replace="a"
/replace="g"
/db_xref="dbSNP:368079731"
variation 695
/gene="MAGEH1"
/gene_synonym="APR-1; APR1; MAGEH"
/replace="c"
/replace="g"
/db_xref="dbSNP:199598585"
STS 711..908
/gene="MAGEH1"
/gene_synonym="APR-1; APR1; MAGEH"
/standard_name="MAGEH1"
/db_xref="UniSTS:498189"
variation 749
/gene="MAGEH1"
/gene_synonym="APR-1; APR1; MAGEH"
/replace="a"
/replace="c"
/db_xref="dbSNP:200891712"
variation 762
/gene="MAGEH1"
/gene_synonym="APR-1; APR1; MAGEH"
/replace="a"
/replace="g"
/db_xref="dbSNP:11545211"
variation 782
/gene="MAGEH1"
/gene_synonym="APR-1; APR1; MAGEH"
/replace="c"
/replace="t"
/db_xref="dbSNP:147576211"
variation 804
/gene="MAGEH1"
/gene_synonym="APR-1; APR1; MAGEH"
/replace="a"
/replace="t"
/db_xref="dbSNP:186691048"
variation 821
/gene="MAGEH1"
/gene_synonym="APR-1; APR1; MAGEH"
/replace="c"
/replace="g"
/db_xref="dbSNP:372274274"
variation 867
/gene="MAGEH1"
/gene_synonym="APR-1; APR1; MAGEH"
/replace="c"
/replace="g"
/db_xref="dbSNP:376513651"
variation 909
/gene="MAGEH1"
/gene_synonym="APR-1; APR1; MAGEH"
/replace="c"
/replace="t"
/db_xref="dbSNP:199925431"
variation 1002
/gene="MAGEH1"
/gene_synonym="APR-1; APR1; MAGEH"
/replace="c"
/replace="t"
/db_xref="dbSNP:12014852"
variation 1057
/gene="MAGEH1"
/gene_synonym="APR-1; APR1; MAGEH"
/replace="a"
/replace="g"
/db_xref="dbSNP:190760994"
variation 1079
/gene="MAGEH1"
/gene_synonym="APR-1; APR1; MAGEH"
/replace="c"
/replace="t"
/db_xref="dbSNP:183361060"
STS 1129..1385
/gene="MAGEH1"
/gene_synonym="APR-1; APR1; MAGEH"
/standard_name="WI-19776"
/db_xref="UniSTS:22630"
variation 1176
/gene="MAGEH1"
/gene_synonym="APR-1; APR1; MAGEH"
/replace="a"
/replace="t"
/db_xref="dbSNP:187867937"
polyA_site 1181
/gene="MAGEH1"
/gene_synonym="APR-1; APR1; MAGEH"
/experiment="experimental evidence, no additional details
recorded"
STS 1220..1428
/gene="MAGEH1"
/gene_synonym="APR-1; APR1; MAGEH"
/standard_name="STS-N25539"
/db_xref="UniSTS:38318"
variation 1288
/gene="MAGEH1"
/gene_synonym="APR-1; APR1; MAGEH"
/replace="g"
/replace="t"
/db_xref="dbSNP:149252179"
STS 1324..1435
/gene="MAGEH1"
/gene_synonym="APR-1; APR1; MAGEH"
/standard_name="DXS8146"
/db_xref="UniSTS:36256"
polyA_signal 1441..1446
/gene="MAGEH1"
/gene_synonym="APR-1; APR1; MAGEH"
polyA_site 1461
/gene="MAGEH1"
/gene_synonym="APR-1; APR1; MAGEH"
/experiment="experimental evidence, no additional details
recorded"
ORIGIN
gcgtggcaggagaggcggggccaattttgctgagctttctcgcgggcttgcagctgcggcaagtgctggcggcggctgctcgcgcaagtcagctggcgtgggaactaccctttgtagctgagaacggcttgtttattgctacaaagactctattgacattggtagcttcagcggcagcagcttcttacggtataaagctgttgcttcctgaagaggctacaagcatccttccctaggactgctgtaagctttgagcctctagcaggagacatgcctcggggacgaaagagtcggcgccgccgtaatgcgagagccgcagaagagaaccgcaacaatcgcaaaatccaggcctcagaggcctccgagacccctatggccgcctctgtggtagcgagcacccccgaagacgacctgagcggccccgaggaagacccgagcactccagaggaggcctctaccacccctgaagaagcctcgagcactgcccaagcacaaaagccttcagtgccccggagcaattttcagggcaccaagaaaagtctcctgatgtctatattagcgctcatcttcatcatgggcaacagcgccaaggaagctctggtctggaaagtgctggggaagttaggaatgcagcctggacgtcagcacagcatctttggagatccgaagaagatcgtcacagaagagtttgtgcgcagagggtacctgatttataaaccggtgccccgtagcagtccggtggagtatgagttcttctgggggccccgagcacacgtggaatcgagcaaactgaaagtcatgcattttgtggcaagggttcgtaaccgatgctctaaagactggccttgtaattatgactgggattcggacgatgatgcagaggttgaggctatcctcaattcaggtgctaggggttattccgccccttaagtagatctgaggcagacccttgggggtgtaaaagagagtcacaggtaccccaaggagtagatgccagggtcctaagttgaaaatgatgtcgattgggggcgggggacactgtatttgatatttgtgatcagtgatcattgttcaactgcgaaatagagtgtttgcttttgataatggaaaattgtattcgttttaaaattccgtttgttgagaataacaatatgtttaaaaatataattgaacaaatttttttctttgtttcctgtcattgacatttagtataacagttttgctaacgttctaaaatgaagtcgttccatcataatctatgatcttgtacagcacttatagaaataagctgttcttttgaagttgaaatacccagtaaaatgttgaagaaggatggaggatttcttcatatctgacgtttctgaaaccctttgtgtctgctgttgtgtgaagattgacatttaccatgattttccttagttactgcagaacatagagaaaaataaaagcctaacgaatagtaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:28986 -> Biological process: GO:0006915 [apoptotic process] evidence: TAS
GeneID:28986 -> Cellular component: GO:0005737 [cytoplasm] evidence: IEA
by
@meso_cacase at
DBCLS
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