2024-04-25 23:54:22, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_181507 4880 bp mRNA linear PRI 07-JUL-2013 DEFINITION Homo sapiens Hermansky-Pudlak syndrome 5 (HPS5), transcript variant 1, mRNA. ACCESSION NM_181507 VERSION NM_181507.1 GI:31657122 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 4880) AUTHORS Carmona-Rivera,C., Golas,G., Hess,R.A., Cardillo,N.D., Martin,E.H., O'Brien,K., Tsilou,E., Gochuico,B.R., White,J.G., Huizing,M. and Gahl,W.A. TITLE Clinical, molecular, and cellular features of non-Puerto Rican Hermansky-Pudlak syndrome patients of Hispanic descent JOURNAL J. Invest. Dermatol. 131 (12), 2394-2400 (2011) PUBMED 21833017 REMARK GeneRIF: Seven mutations (six previously unreported) were described in the HPS1, HPS4, and HPS5 genes among Hermansky-Pudlak Syndrome patients of Mexican, Uruguayan, Honduran, Cuban, Venezuelan, and Salvadoran ancestries. REFERENCE 2 (bases 1 to 4880) AUTHORS Suhre K, Shin SY, Petersen AK, Mohney RP, Meredith D, Wagele B, Altmaier E, Deloukas P, Erdmann J, Grundberg E, Hammond CJ, de Angelis MH, Kastenmuller G, Kottgen A, Kronenberg F, Mangino M, Meisinger C, Meitinger T, Mewes HW, Milburn MV, Prehn C, Raffler J, Ried JS, Romisch-Margl W, Samani NJ, Small KS, Wichmann HE, Zhai G, Illig T, Spector TD, Adamski J, Soranzo N and Gieger C. CONSRTM CARDIoGRAM TITLE Human metabolic individuality in biomedical and pharmaceutical research JOURNAL Nature 477 (7362), 54-60 (2011) PUBMED 21886157 REMARK Publication Status: Online-Only REFERENCE 3 (bases 1 to 4880) AUTHORS Marzi,C., Albrecht,E., Hysi,P.G., Lagou,V., Waldenberger,M., Tonjes,A., Prokopenko,I., Heim,K., Blackburn,H., Ried,J.S., Kleber,M.E., Mangino,M., Thorand,B., Peters,A., Hammond,C.J., Grallert,H., Boehm,B.O., Kovacs,P., Geistlinger,L., Prokisch,H., Winkelmann,B.R., Spector,T.D., Wichmann,H.E., Stumvoll,M., Soranzo,N., Marz,W., Koenig,W., Illig,T. and Gieger,C. TITLE Genome-wide association study identifies two novel regions at 11p15.5-p13 and 1p31 with major impact on acute-phase serum amyloid A JOURNAL PLoS Genet. 6 (11), E1001213 (2010) PUBMED 21124955 REMARK Publication Status: Online-Only REFERENCE 4 (bases 1 to 4880) AUTHORS Helip-Wooley,A., Westbroek,W., Dorward,H.M., Koshoffer,A., Huizing,M., Boissy,R.E. and Gahl,W.A. TITLE Improper trafficking of melanocyte-specific proteins in Hermansky-Pudlak syndrome type-5 JOURNAL J. Invest. Dermatol. 127 (6), 1471-1478 (2007) PUBMED 17301833 REMARK GeneRIF: Tyrosinase and TYRP1 are mistrafficked, however, and fail to be efficiently delivered to melanosomes of HPS-5 melanocytes REFERENCE 5 (bases 1 to 4880) AUTHORS Huizing,M., Parkes,J.M., Helip-Wooley,A., White,J.G. and Gahl,W.A. TITLE Platelet alpha granules in BLOC-2 and BLOC-3 subtypes of Hermansky-Pudlak syndrome JOURNAL Platelets 18 (2), 150-157 (2007) PUBMED 17365864 REFERENCE 6 (bases 1 to 4880) AUTHORS Huizing,M., Hess,R., Dorward,H., Claassen,D.A., Helip-Wooley,A., Kleta,R., Kaiser-Kupfer,M.I., White,J.G. and Gahl,W.A. TITLE Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5 JOURNAL Traffic 5 (9), 711-722 (2004) PUBMED 15296495 REMARK GeneRIF: LAMP-3 distribution was restricted to the perinuclear region in HPS-5 fibroblasts, instead of extending to the periphery REFERENCE 7 (bases 1 to 4880) AUTHORS Di Pietro,S.M., Falcon-Perez,J.M. and Dell'Angelica,E.C. TITLE Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6 JOURNAL Traffic 5 (4), 276-283 (2004) PUBMED 15030569 REMARK GeneRIF: Component of BLOC-2. Results suggest a common biological basis underlying the pathogenesis of HPS-3, -5 and -6 disease. REFERENCE 8 (bases 1 to 4880) AUTHORS Zhang,Q., Zhao,B., Li,W., Oiso,N., Novak,E.K., Rusiniak,M.E., Gautam,R., Chintala,S., O'Brien,E.P., Zhang,Y., Roe,B.A., Elliott,R.W., Eicher,E.M., Liang,P., Kratz,C., Legius,E., Spritz,R.A., O'Sullivan,T.N., Copeland,N.G., Jenkins,N.A. and Swank,R.T. TITLE Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6 JOURNAL Nat. Genet. 33 (2), 145-153 (2003) PUBMED 12548288 REFERENCE 9 (bases 1 to 4880) AUTHORS Wixler,V., Laplantine,E., Geerts,D., Sonnenberg,A., Petersohn,D., Eckes,B., Paulsson,M. and Aumailley,M. TITLE Identification of novel interaction partners for the conserved membrane proximal region of alpha-integrin cytoplasmic domains JOURNAL FEBS Lett. 445 (2-3), 351-355 (1999) PUBMED 10094488 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AF534401.1 and AA886415.1. This sequence is a reference standard in the RefSeqGene project. Summary: This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 6 protein and may interact with the cytoplasmic domain of integrin, alpha-3. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]. Transcript Variant: This variant (1) represents the longest transcript, and encodes the longer isoform (a). ##Evidence-Data-START## Transcript exon combination :: AF534401.1, AK291663.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support ERS025081, ERS025082 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. FEATURES Location/Qualifiers source 1..4880 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="11" /map="11p14" gene 1..4880 /gene="HPS5" /gene_synonym="AIBP63" /note="Hermansky-Pudlak syndrome 5" /db_xref="GeneID:11234" /db_xref="HGNC:17022" /db_xref="HPRD:07395" /db_xref="MIM:607521" exon 1..229 /gene="HPS5" /gene_synonym="AIBP63" /inference="alignment:Splign:1.39.8" exon 230..386 /gene="HPS5" /gene_synonym="AIBP63" /inference="alignment:Splign:1.39.8" misc_feature 276..278 /gene="HPS5" /gene_synonym="AIBP63" /note="upstream in-frame stop codon" CDS 279..3668 /gene="HPS5" /gene_synonym="AIBP63" /note="isoform a is encoded by transcript variant 1; alpha integrin binding protein 63; ruby-eye protein 2 homolog; alpha-integrin-binding protein 63; Hermansky-Pudlak syndrome 5 protein" /codon_start=1 /product="Hermansky-Pudlak syndrome 5 protein isoform a" /protein_id="NP_852608.1" /db_xref="GI:31657123" /db_xref="CCDS:CCDS7836.1" /db_xref="GeneID:11234" /db_xref="HGNC:17022" /db_xref="HPRD:07395" /db_xref="MIM:607521" /translation="
MAFVPVIPESYSHVLAEFESLDPLLSALRLDSSRLKCTSIAVSRKWLALGSSGGGLHLIQKEGWKHRLFLSHREGAISQVACCLHDDDYVAVATSQGLVVVWELNQERRGKPEQMYVSSEHKGRRVTALCWDTAILRVFVGDHAGKVSAIKLNTSKQAKAAAAFVMFPVQTITTVDSCVVQLDYLDGRLLISSLTRSFLCDTEREKFWKIGNKERDGEYGACFFPGRCSGGQQPLIYCARPGSRMWEVNFDGEVISTHQFKKLLSLPPLPVITLRSEPQYDHTAGSSQSLSFPKLLHLSEHCVLTWTERGIYIFIPQNVQVLLWSEVKDIQDVAVCRNELFCLHLNGKVSHLSLISVERCVERLLRRGLWNLAARTCCLFQNSVIASRARKTLTADKLEHLKSQLDHGTYNDLISQLEELILKFEPLDSACSSRRSSISSHESFSILDSGIYRIISSRRGSQSDEDSCSLHSQTLSEDERFKEFTSQQEEDLPDQCCGSHGNEDNVSHAPVMFETDKNETFLPFGIPLPFRSPSPLVSLQAVKESVSSFVRKTTEKIGTLHTSPDLKVRPELRGDEQSCEEDVSSDTCPKEEDTEEEKEVTSPPPEEDRFQELKVATAEAMTKLQDPLVLFESESLRMVLQEWLSHLEKTFAMKDFSGVSDTDNSSMKLNQDVLLVNESKKGILDEDNEKEKRDSLGNEESVDKTACECVRSPRESLDDLFQICSPCAIASGLRNDLAELTTLCLELNVLNSKIKSTSGHVDHTLQQYSPEILACQFLKKYFFLLNLKRAKESIKLSYSNSPSVWDTFIEGLKEMASSNPVYMEMEKGDLPTRLKLLDDEVPFDSPLLVVYATRLYEKFGESALRSLIKFFPSILPSDIIQLCHHHPAEFLAYLDSLVKSRPEDQRSSFLESLLQPESLRLDWLLLAVSLDAPPSTSTMDDEGYPRPHSHLLSWGYSQLILHLIKLPADFITKEKMTDICRSCGFWPGYLILCLELERRREAFTNIVYLNDMSLMEGDNGWIPETVEEWKLLLHLIQSKSTRPAPQESLNGSLSDGPSPINVENVALLLAKAMGPDRAWSLLQECGLALELSEKFTRTCDILRIAEKRQRALIQSMLEKCDRFLWSQQA
" misc_feature 1659..1661 /gene="HPS5" /gene_synonym="AIBP63" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" misc_feature 1872..1874 /gene="HPS5" /gene_synonym="AIBP63" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (Q9UPZ3.2); phosphorylation site" exon 387..497 /gene="HPS5" /gene_synonym="AIBP63" /inference="alignment:Splign:1.39.8" exon 498..562 /gene="HPS5" /gene_synonym="AIBP63" /inference="alignment:Splign:1.39.8" exon 563..755 /gene="HPS5" /gene_synonym="AIBP63" /inference="alignment:Splign:1.39.8" exon 756..889 /gene="HPS5" /gene_synonym="AIBP63" /inference="alignment:Splign:1.39.8" exon 890..1102 /gene="HPS5" /gene_synonym="AIBP63" /inference="alignment:Splign:1.39.8" variation 1100 /gene="HPS5" /gene_synonym="AIBP63" /replace="a" /replace="c" /db_xref="dbSNP:1140047" exon 1103..1174 /gene="HPS5" /gene_synonym="AIBP63" /inference="alignment:Splign:1.39.8" exon 1175..1263 /gene="HPS5" /gene_synonym="AIBP63" /inference="alignment:Splign:1.39.8" exon 1264..1442 /gene="HPS5" /gene_synonym="AIBP63" /inference="alignment:Splign:1.39.8" exon 1443..1601 /gene="HPS5" /gene_synonym="AIBP63" /inference="alignment:Splign:1.39.8" exon 1602..1788 /gene="HPS5" /gene_synonym="AIBP63" /inference="alignment:Splign:1.39.8" exon 1789..1912 /gene="HPS5" /gene_synonym="AIBP63" /inference="alignment:Splign:1.39.8" exon 1913..2062 /gene="HPS5" /gene_synonym="AIBP63" /inference="alignment:Splign:1.39.8" exon 2063..2140 /gene="HPS5" /gene_synonym="AIBP63" /inference="alignment:Splign:1.39.8" exon 2141..2718 /gene="HPS5" /gene_synonym="AIBP63" /inference="alignment:Splign:1.39.8" exon 2719..2839 /gene="HPS5" /gene_synonym="AIBP63" /inference="alignment:Splign:1.39.8" exon 2840..2995 /gene="HPS5" /gene_synonym="AIBP63" /inference="alignment:Splign:1.39.8" exon 2996..3115 /gene="HPS5" /gene_synonym="AIBP63" /inference="alignment:Splign:1.39.8" exon 3116..3229 /gene="HPS5" /gene_synonym="AIBP63" /inference="alignment:Splign:1.39.8" exon 3230..3336 /gene="HPS5" /gene_synonym="AIBP63" /inference="alignment:Splign:1.39.8" exon 3337..3607 /gene="HPS5" /gene_synonym="AIBP63" /inference="alignment:Splign:1.39.8" exon 3608..4880 /gene="HPS5" /gene_synonym="AIBP63" /inference="alignment:Splign:1.39.8" STS 3741..4559 /gene="HPS5" /gene_synonym="AIBP63" /standard_name="HPS5__6585" /db_xref="UniSTS:463988" variation 4132 /gene="HPS5" /gene_synonym="AIBP63" /replace="a" /replace="c" /db_xref="dbSNP:1046611" variation 4143 /gene="HPS5" /gene_synonym="AIBP63" /replace="c" /replace="t" /db_xref="dbSNP:1046615" variation 4472 /gene="HPS5" /gene_synonym="AIBP63" /replace="c" /replace="t" /db_xref="dbSNP:1046628" STS 4602..4732 /gene="HPS5" /gene_synonym="AIBP63" /standard_name="STS-W46391" /db_xref="UniSTS:44452" polyA_signal 4763..4768 /gene="HPS5" /gene_synonym="AIBP63" polyA_site 4798 /gene="HPS5" /gene_synonym="AIBP63" misc_feature 4880 /gene="HPS5" /gene_synonym="AIBP63" /note="the 3' most polyA site is unknown" ORIGIN
cgcgaggggagactgaagttcacgttccgctcttagtgcgcggtgagttccccggcgctaagccgggagacaagatccgatctactgagagctgcgaggtactgccctggatgtggtggagctgggctgggacctccgggctgctggtctgtgagcctggctttgaaaattggttactgggtctcctctcaagaaatctcaagatattaaagttactgctgttaaaaaggtgaggaatactgtatctatcattcaacaagtttcagctttctggctaaatggcttttgtgccagtgataccagagtcctacagccatgttcttgcagagtttgaatctctggatccattactctcagccctgcggctggactccagtcgtctaaagtgcacgagcatagctgtgtctcggaaatggttggctttgggcagttcaggaggaggactccatctcattcagaaagaaggctggaagcacaggctttttctttcacacagggaaggtgcaatttctcaagtcgcctgttgtttacatgatgatgattatgttgctgtagctaccagtcaaggtcttgtggttgtttgggaattaaatcaagagcgtcgtgggaaaccggaacaaatgtatgtgtcttcagaacacaaaggccgaagagtcacagctctctgctgggatacagctattcttagagtttttgtaggtgatcatgctgggaaggtttctgctatcaaactcaatacttctaaacaagcaaaggcagctgctgcttttgtgatgtttcctgttcagacaatcacaactgttgactcctgtgttgtacagttagattatttggatggaaggctacttatatcttcacttactcgatccttcttgtgtgacactgagagagaaaagttttggaaaattggaaacaaggaaagagatggagaatatggagcttgtttctttcctggaagatgttctgggggccagcaacctctgatatattgtgctcgcccaggctctaggatgtgggaagtgaactttgatggagaagttataagtacacatcagttcaagaaactcctctcgttgccacctctccctgtgattactctcagatcagaacctcagtatgatcatacagctggatcctcccagtctttgtctttccccaaactcttacatcttagtgagcattgtgtgctgacttggacagaaagaggaatttatattttcattcctcagaatgttcaagttcttctttggagtgaagtcaaagatattcaggatgtggctgtctgtaggaatgaattgttctgtttgcacctaaatgggaaagtctcacatctctccctgatatctgtggagcgctgtgtggaacgcctgctaagaagaggcctatggaacttggctgctcgtacatgctgtcttttccaaaattctgtcattgccagcagagcaagaaaaactttgactgcagataaattggagcatttgaaatctcagctggaccatggcacctacaatgatctaatttctcaactggaagaattgatcttaaaatttgaacctttggattcagcttgtagcagtagaagaagctccatttcatcacatgaaagtttcagcatcttggactctggtatttatcgtatcattagtagtagaagaggcagtcagtcagatgaagactcttgctcccttcacagccaaaccctctcagaagatgagagatttaaagaattcacctcacagcaggaagaggacctgccagatcagtgttgtggctcacacggaaatgaagacaatgtttctcatgctccagtgatgtttgagacagataagaatgaaacttttctcccgttcggcattccattaccatttcgttctccatctcctcttgtgtctcttcaggctgtcaaagaaagtgtttctagctttgtgcgtaaaactactgagaagattggcacccttcacacgagccctgatctgaaagtgagaccagagctcaggggtgatgagcaatcatgtgaagaggatgtgagttcagatacctgcccaaaggaggaagacactgaggaggaaaaagaggtaactagtccacctccagaagaagacaggttccaggagcttaaagtagcaacagcagaagcaatgaccaagctacaggaccctctggttttatttgaatccgagtctctgagaatggttttacaggagtggctttcacatttagaaaaaacatttgccatgaaggacttttcaggtgtttcagatactgacaactcatccatgaaattgaaccaggatgtgctattagttaatgaatcaaaaaagggaatattagatgaagataatgaaaaagaaaaaagggactctttaggcaatgaagaatctgttgataaaacagcatgtgaatgtgtaaggagtccaagggagtctttggatgacctgtttcaaatatgttctccatgcgccattgcaagtggtcttcggaacgacctggctgaattgacaacattatgtttggagttgaatgtattgaattctaagatcaaaagcaccagtggacatgtggaccacactttgcaacagtactctcctgaaattctggcttgccagttcctgaagaagtacttttttctcctgaacttgaaaagagcgaaggagagtatcaagcttagttacagtaatagcccttctgtttgggatacttttattgaaggattgaaagaaatggcaagttccaatcctgtgtatatggagatggaaaaaggagatctaccaacaaggttaaagttactagatgacgaggttccttttgatagtccgttgttggttgtttatgctacccggttgtatgaaaagtttggggagtctgctcttcgatccttaatcaagttctttccatccattttgccatcggatatcatacaactttgtcatcatcatcctgctgagtttttggcctatttagacagtctggtgaaatcaaggcctgaagatcagcggtcatcttttcttgagtcccttctgcaaccagagtctttaaggttggattggctgcttttggcagtgtcccttgatgctccaccaagcaccagcacaatggatgatgaaggttatcccaggcctcattcacacttgctttcctggggttacagtcagctgatccttcatctaattaaacttcctgcagattttataaccaaagagaaaatgacagacatctgcaggtcttgtggtttctggcctggatatctaattctctgtttggagctggagagaagaagagaggccttcaccaatattgtgtatctgaatgatatgagcctgatggaaggggacaatggttggatcccagagaccgtggaggaatggaagcttctccttcatctcatacagagcaagagcacgaggccagccccccaggagtcactaaatgggagcctcagtgatgggccttcccccatcaatgtggagaatgtggcacttctgttagctaaggccatgggcccagatcgggcttggtcactgctacaggaatgtggtctggcccttgagttgtcagagaagtttaccagaacctgcgatatcctgaggattgctgagaaaaggcagagggccttgatacaaagcatgcttgaaaaatgcgatcggtttctctggtcccagcaggcctagtgggagaagattcagcaggatgtcatgacattttgagaaaaactaaatcatgctcctgaaccttctgaacgcatttgttattgaaggaaagacaccacccccaaatcctgccatcttattggggctacttttgtcagtgtctgtacccttggcatcggcatctgtgactctttatccatgacctcagtgtttcttaaccaaagttgtactcagcatttcttaaccaaagttgaattttgaaaagagtcagtccttgtttgctggaattagaatgttaatgtcctagtattattccgaactacagtattaactgcttgttgctagtggattagacagattcttttcttactgtggcttccatgttgggagcagaagcttttcatcctggtcacatgaagacagatggtattattgactggagttgaattatttttatatcttgtctggcacaatatggaaattactgaaataagacggtgtataatggaattaacacccaaaataagtagaacactgaagatttgaatttgatatttaagtaaaatgggactgggtgcagtggctcaggcctgtaatcccaaccctttggaaggtaaagacgggaggatcacttgaggccaggagttcaagaccagcctgggcaacatagtgagaatgcatctctacaaaaaataaaaaaaattagctaggcatagtacctgaggccaggaggtccaggccgcaatgagatgtgtttgtgccattgcacaccagtctgggtgacagagaaagaccctgtctcaaaaacaaattaaataaaatatcttcatatataaattaagctaattaaaaatatttttccctgtatttatttaatattttctaatctgaacccatatacagctgactaattcattcttagaaatgtgttatctgtaatctttcctaaacagagtagcccacaagaatcatgcactttttaaaattatttctaagaagccataacaaagctgtgtactaataaagactgcagcaagcacttgtgttatttaaattatgtaagtagattgtcatttgtcaggctcctgtacatttacatagcatgttatattaataataaatgtaaaatatgactaaagttttcattggaacacaatgtagacaggaggtttattatgagcattttgcagaaaggtgtggagtaagtaaagtgttggatgcactgaacaattc
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:11234 -> Biological process: GO:0006996 [organelle organization] evidence: IEA GeneID:11234 -> Biological process: GO:0007596 [blood coagulation] evidence: IEA GeneID:11234 -> Biological process: GO:0043473 [pigmentation] evidence: IEA GeneID:11234 -> Cellular component: GO:0005829 [cytosol] evidence: IEA
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