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2024-04-26 00:54:24, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001168480 2918 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens armadillo repeat containing, X-linked 5 (ARMCX5),
transcript variant 4, mRNA.
ACCESSION NM_001168480
VERSION NM_001168480.1 GI:274318368
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 2918)
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
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
AK096692.1 and BC000792.1.
Transcript Variant: This variant (4) differs in the 5' UTR compared
to variant 1. Variants 1-6 all encode the same protein.
##Evidence-Data-START##
Transcript exon combination :: AK096692.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025084, ERS025088 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-2895 AK096692.1 1-2895
2896-2918 BC000792.1 1192-1214
FEATURES Location/Qualifiers
source 1..2918
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="X"
/map="Xq22.1-q22.3"
gene 1..2918
/gene="ARMCX5"
/note="armadillo repeat containing, X-linked 5"
/db_xref="GeneID:64860"
/db_xref="HGNC:25772"
exon 1..99
/gene="ARMCX5"
/inference="alignment:Splign:1.39.8"
variation 95
/gene="ARMCX5"
/replace="a"
/replace="g"
/db_xref="dbSNP:186923749"
exon 100..324
/gene="ARMCX5"
/inference="alignment:Splign:1.39.8"
variation 219
/gene="ARMCX5"
/replace="a"
/replace="g"
/db_xref="dbSNP:143986897"
variation 233
/gene="ARMCX5"
/replace="a"
/replace="g"
/db_xref="dbSNP:191379211"
exon 325..460
/gene="ARMCX5"
/inference="alignment:Splign:1.39.8"
variation 423
/gene="ARMCX5"
/replace="a"
/replace="t"
/db_xref="dbSNP:113654543"
exon 461..573
/gene="ARMCX5"
/inference="alignment:Splign:1.39.8"
exon 574..619
/gene="ARMCX5"
/inference="alignment:Splign:1.39.8"
exon 620..2899
/gene="ARMCX5"
/inference="alignment:Splign:1.39.8"
variation 659
/gene="ARMCX5"
/replace="c"
/replace="t"
/db_xref="dbSNP:180686160"
variation 742
/gene="ARMCX5"
/replace="a"
/replace="g"
/db_xref="dbSNP:187431863"
variation 748
/gene="ARMCX5"
/replace="c"
/replace="t"
/db_xref="dbSNP:150456888"
variation 840
/gene="ARMCX5"
/replace="c"
/replace="t"
/db_xref="dbSNP:371888083"
misc_feature 870..872
/gene="ARMCX5"
/note="upstream in-frame stop codon"
CDS 882..2558
/gene="ARMCX5"
/codon_start=1
/product="armadillo repeat-containing X-linked protein 5"
/protein_id="NP_001161952.1"
/db_xref="GI:274318369"
/db_xref="CCDS:CCDS14500.1"
/db_xref="GeneID:64860"
/db_xref="HGNC:25772"
/translation="
MVDSGTEARARGKAEAGLQDGISGPATARVNGKTQAEAVAEAELKTESVTQAKAGDGAMTRTHTVTYREAMAVTREVIKVEDTTKTRVMVETKTKPLAERSIVPQTKSKAMPMSRVSTVTKSEVKVVAVIEANIRSYAKSHDKANTGSRPDRREETSIGMKSSDEDEENICSWFWTGEEPSVGSWFWPEEETSLQVYKPLPKIQEKPKPTHKPTLTIKQKVIAWSRARYIVLVPVEGGEQSLPPEGNWTLVETLIETPLGIRPLTKIPPYHGPYYQTLAEIKKQIRQREKYGPNPKACHCKSRGFSLEPKEFDKLVALLKLTKDPFIHEIATMIMGISPAYPFTQDIIHDVGITVMIENLVNNPNVKEHPGALSMVDDSSESSEEPKSGESYIHQVCKGIISCPLNSPVQLAGLKLLGHLSIKFEDHYVITSYIPDFLTLLNKGSVKTKFYVLKVFSCLSKNHANTRELISAKVLSSLVAPFNKNESKANILNIIEIFENINFQFKTKAKLFTKEKFTKSELISIFQEAKQFGQKLQDLAEHSDPEVRDKVIRLILKL
"
misc_feature 1773..2537
/gene="ARMCX5"
/note="Armadillo-like; Region: Arm_2; pfam04826"
/db_xref="CDD:191105"
misc_feature 1779..1898
/gene="ARMCX5"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q6P1M9.1);
Region: ARM 1"
misc_feature 2145..2264
/gene="ARMCX5"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q6P1M9.1);
Region: ARM 2"
misc_feature 2268..2390
/gene="ARMCX5"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q6P1M9.1);
Region: ARM 3"
variation 891
/gene="ARMCX5"
/replace="c"
/replace="t"
/db_xref="dbSNP:376521671"
variation 907
/gene="ARMCX5"
/replace="a"
/replace="g"
/db_xref="dbSNP:147081834"
variation 1037
/gene="ARMCX5"
/replace="a"
/replace="c"
/db_xref="dbSNP:17854978"
variation 1076
/gene="ARMCX5"
/replace="a"
/replace="g"
/db_xref="dbSNP:369765869"
variation 1132
/gene="ARMCX5"
/replace="c"
/replace="t"
/db_xref="dbSNP:138502487"
variation 1139
/gene="ARMCX5"
/replace="c"
/replace="t"
/db_xref="dbSNP:142005126"
variation 1179
/gene="ARMCX5"
/replace="c"
/replace="t"
/db_xref="dbSNP:12013441"
variation 1180
/gene="ARMCX5"
/replace="a"
/replace="g"
/db_xref="dbSNP:112989637"
variation 1186
/gene="ARMCX5"
/replace="g"
/replace="t"
/db_xref="dbSNP:374726828"
variation 1190
/gene="ARMCX5"
/replace="g"
/replace="t"
/db_xref="dbSNP:191839863"
variation 1230
/gene="ARMCX5"
/replace="a"
/replace="g"
/db_xref="dbSNP:112318694"
variation 1236
/gene="ARMCX5"
/replace="g"
/replace="t"
/db_xref="dbSNP:41307379"
variation 1337
/gene="ARMCX5"
/replace="a"
/replace="g"
/db_xref="dbSNP:150705414"
variation 1347
/gene="ARMCX5"
/replace="c"
/replace="t"
/db_xref="dbSNP:35450554"
variation 1353
/gene="ARMCX5"
/replace="a"
/replace="g"
/db_xref="dbSNP:369047406"
variation 1358
/gene="ARMCX5"
/replace="a"
/replace="g"
/db_xref="dbSNP:149447145"
variation 1370
/gene="ARMCX5"
/replace="g"
/replace="t"
/db_xref="dbSNP:201641747"
variation 1389
/gene="ARMCX5"
/replace="a"
/replace="t"
/db_xref="dbSNP:375887903"
variation 1471
/gene="ARMCX5"
/replace="a"
/replace="g"
/db_xref="dbSNP:370774795"
variation 1490
/gene="ARMCX5"
/replace="c"
/replace="t"
/db_xref="dbSNP:55673173"
variation 1562
/gene="ARMCX5"
/replace="c"
/replace="g"
/db_xref="dbSNP:146343503"
variation 1570
/gene="ARMCX5"
/replace="c"
/replace="t"
/db_xref="dbSNP:373013040"
variation 1609
/gene="ARMCX5"
/replace="c"
/replace="t"
/db_xref="dbSNP:139851001"
variation 1627
/gene="ARMCX5"
/replace="c"
/replace="t"
/db_xref="dbSNP:377411016"
variation 1635
/gene="ARMCX5"
/replace="a"
/replace="g"
/db_xref="dbSNP:375842205"
variation 1658
/gene="ARMCX5"
/replace="a"
/replace="g"
/db_xref="dbSNP:371062313"
variation 1680
/gene="ARMCX5"
/replace="a"
/replace="t"
/db_xref="dbSNP:143305512"
variation 1710
/gene="ARMCX5"
/replace="a"
/replace="g"
/db_xref="dbSNP:139067925"
variation 1765
/gene="ARMCX5"
/replace="c"
/replace="t"
/db_xref="dbSNP:376270648"
variation 1798
/gene="ARMCX5"
/replace="a"
/replace="g"
/db_xref="dbSNP:377359903"
variation 1813
/gene="ARMCX5"
/replace="a"
/replace="g"
/db_xref="dbSNP:113918916"
variation 1879
/gene="ARMCX5"
/replace="c"
/replace="t"
/db_xref="dbSNP:370182133"
variation 2015
/gene="ARMCX5"
/replace="c"
/replace="g"
/db_xref="dbSNP:200145435"
variation 2030
/gene="ARMCX5"
/replace="c"
/replace="t"
/db_xref="dbSNP:374899022"
variation 2051
/gene="ARMCX5"
/replace="a"
/replace="g"
/db_xref="dbSNP:149355875"
variation 2066
/gene="ARMCX5"
/replace="a"
/replace="g"
/db_xref="dbSNP:148467545"
variation 2107
/gene="ARMCX5"
/replace="g"
/replace="t"
/db_xref="dbSNP:142617709"
variation 2120
/gene="ARMCX5"
/replace="c"
/replace="t"
/db_xref="dbSNP:35168882"
variation 2229
/gene="ARMCX5"
/replace="c"
/replace="t"
/db_xref="dbSNP:201473675"
variation 2244
/gene="ARMCX5"
/replace="a"
/replace="g"
/db_xref="dbSNP:186882890"
variation 2269
/gene="ARMCX5"
/replace="a"
/replace="g"
/db_xref="dbSNP:140890801"
variation 2282
/gene="ARMCX5"
/replace="a"
/replace="g"
/db_xref="dbSNP:148274740"
variation 2437
/gene="ARMCX5"
/replace="a"
/replace="g"
/db_xref="dbSNP:367941873"
variation 2460
/gene="ARMCX5"
/replace="c"
/replace="g"
/db_xref="dbSNP:200184974"
variation 2516
/gene="ARMCX5"
/replace="a"
/replace="g"
/db_xref="dbSNP:35897621"
variation 2570
/gene="ARMCX5"
/replace="c"
/replace="t"
/db_xref="dbSNP:374272924"
STS 2683..2826
/gene="ARMCX5"
/standard_name="A002R08"
/db_xref="UniSTS:60223"
polyA_signal 2870..2875
/gene="ARMCX5"
polyA_site 2899
/gene="ARMCX5"
ORIGIN
gaacttcgaaagactggaacacttccgcctgtcaggccagaagagatttcctgacaccacagctggaaacccatgtgcatttcagttcaggaaagaatgcgccgttttccctatatccggaattcgtccctgcgcattccaatacctgaagcggccacagggtacaggacagggagccctccgacagaaaagagtcgcggcgctaaacaaagcctgatatcactccgcttccataagccggatccccataaactacgctctagctcctcccactgccgttgtgggtaacgcggacgtggaagaacctcgtctgcggaggaaaaggtgccgagtcaatccccatacacagccgccgccattgcctcgagtccttgtgtctgactgtctgttcctgctgctgtatgacacagcacctcgaggcaaggaaataagaaaactgcctctgatccaagcagagaaggtagatctgtccccaggtctgtggaactgtcagttgtgaagttttgtaaaatggtcacccaacttaaaactaggaaattacgaagaagagaaaattgccctgtatctgttaaggtctgcctgtagatctgctgtagggcttgtcaccattggaagcaaggtcctacttcagtggcagatctggtggccttggagtggctgaagaccaccaccctccacagggctgggcccatgcacagccatccttccctaccttgagtgagcttcctctgcatgttttctatatcactggcagagcctgtagttggaaaggggacagagtgactactggactttgtgtgaaaacaccaaccgggacaaaacttcagtcaaggctgagacgggtgggggtatataacttgtccttacgttaaacttggaacatggttgactctgggacagaagcaagggctagaggaaaggctgaggctggcctgcaagatggaatcagtggtcctgccactgctagagtgaatggtaaaacccaggccgaggcagtggctgaggcagaactgaaaacagaatcagtgacccaggccaaagctggtgatggagcaatgaccaggacacatacagtgacctacagggaggctatggctgtgacaagggaagtgatcaaggtggaagatacaactaagactagagtcatggttgagactaagacaaaacccctggcagaacgcagtatagtgccacaaaccaagtcaaaggccatgcctatgtctagggtcagtactgtaaccaagtctgaagtcaaggttgttgctgtcattgaggcaaatattaggtcctatgccaagtcacatgataaggccaatactgggtccagacctgacagaagggaagagaccagcattgggatgaaatccagtgatgaggatgaagaaaatatatgctcctggttctggactggagaagagcctagtgtagggtcctggttctggcctgaagaagagacctctcttcaagtttataagcccctacctaagatccaggaaaagcccaagcccacacacaaacccacacttactataaaacaaaaggtaatagcatggtcaagggccaggtatattgtcctagttccagttgaaggaggggagcaatccttgcctccagaaggaaactggaccctggttgagaccttgattgaaactcctctggggattcgacctttgaccaagatcccaccttatcatgggccttattaccagaccttagctgagatcaaaaaacagattaggcaaagggaaaagtatgggcctaatccgaaggcctgccactgcaaatcacgtggctttagtttagagcctaaagagtttgataaacttgttgccctccttaagttaactaaggatcctttcattcatgaaatagctacaatgataatgggcatcagtcctgcttatccatttactcaagatataattcatgatgtaggtattactgttatgattgaaaacttggtcaataatcccaatgttaaagaacaccctggagctttaagtatggtggatgacagctctgagtcttccgaagaaccaaaatcaggggagtcatatatacatcaagtttgtaaaggcataatctcttgccccttgaactcccctgtgcagctggctggactgaaattactagggcacttgagtataaaatttgaagatcactatgtgattaccagttatattccagatttcctcaccttgttaaacaagggaagtgtcaaaaccaagttttatgttttaaaagtgttttcgtgtttgtctaaaaatcacgccaatacaagagaattgatcagtgccaaagtactgtcatcattggttgcaccctttaacaagaatgagtcaaaggccaatattcttaatattattgaaatatttgagaatataaattttcagttcaaaacaaaggcaaagctatttaccaaggaaaagttcactaaatctgagcttatttcaatattccaggaagcaaaacagtttggtcagaaactccaagacttagcagagcacagtgatcccgaagtgagagataaagtcatacgattaatactaaaactctgaatacccctctgttctcataaagcctcaaacagttttttggagttgcaatatgaaaccaatgcatattgtaattataaattcaatacttatgttttccatgttgattgagggaggcaattttatggataccaattaatcttgagatcctgaacatgtgctgatttttattgtgctatatagtatataaattgagatatttttggtatttctgcaacgtgacctgataatgaatctattcatcctgagtaagctatacttctgtgctttatattgatatgtgtattcttttgagattttatttacatgttgttaataaagttgcatgctaaaactggtgaaaaaaaaaaaaaaaaaaaaaaa
//
by
@meso_cacase at
DBCLS
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