2024-03-29 23:08:38, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_007216 4723 bp mRNA linear PRI 07-JUL-2013 DEFINITION Homo sapiens Hermansky-Pudlak syndrome 5 (HPS5), transcript variant 2, mRNA. ACCESSION NM_007216 VERSION NM_007216.3 GI:31657126 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 4723) 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 4723) 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 4723) 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 4723) 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 4723) 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 4723) 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 4723) 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 4723) 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 4723) 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 BC033640.1, AA886415.1 and AF534402.1. On Jun 12, 2003 this sequence version replaced gi:22095344. 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 (2) lacks an in-frame segment of the coding region, compared to variant 1. These differences cause translation initiation at a downstream ATG and an isoform (b) with a shorter N-terminus compared to isoform a. ##Evidence-Data-START## Transcript exon combination :: AF534402.1, BC033640.1 [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..4723 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="11" /map="11p14" gene 1..4723 /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" misc_feature 164..166 /gene="HPS5" /gene_synonym="AIBP63" /note="upstream in-frame stop codon" exon 230..340 /gene="HPS5" /gene_synonym="AIBP63" /inference="alignment:Splign:1.39.8" exon 341..405 /gene="HPS5" /gene_synonym="AIBP63" /inference="alignment:Splign:1.39.8" exon 406..598 /gene="HPS5" /gene_synonym="AIBP63" /inference="alignment:Splign:1.39.8" CDS 464..3511 /gene="HPS5" /gene_synonym="AIBP63" /note="isoform b is encoded by transcript variant 2; 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 b" /protein_id="NP_009147.3" /db_xref="GI:31657127" /db_xref="CCDS:CCDS7837.1" /db_xref="GeneID:11234" /db_xref="HGNC:17022" /db_xref="HPRD:07395" /db_xref="MIM:607521" /translation="
MYVSSEHKGRRVTALCWDTAILRVFVGDHAGKVSAIKLNTSKQAKAAAAFVMFPVQTITTVDSCVVQLDYLDGRLLISSLTRSFLCDTEREKFWKIGNKERDGEYGACFFPGRCSGGQQPLIYCARPGSRMWEVNFDGEVISTHQFKKLLSLPPLPVITLRSEPQYDHTAGSSQSLSFPKLLHLSEHCVLTWTERGIYIFIPQNVQVLLWSEVKDIQDVAVCRNELFCLHLNGKVSHLSLISVERCVERLLRRGLWNLAARTCCLFQNSVIASRARKTLTADKLEHLKSQLDHGTYNDLISQLEELILKFEPLDSACSSRRSSISSHESFSILDSGIYRIISSRRGSQSDEDSCSLHSQTLSEDERFKEFTSQQEEDLPDQCCGSHGNEDNVSHAPVMFETDKNETFLPFGIPLPFRSPSPLVSLQAVKESVSSFVRKTTEKIGTLHTSPDLKVRPELRGDEQSCEEDVSSDTCPKEEDTEEEKEVTSPPPEEDRFQELKVATAEAMTKLQDPLVLFESESLRMVLQEWLSHLEKTFAMKDFSGVSDTDNSSMKLNQDVLLVNESKKGILDEDNEKEKRDSLGNEESVDKTACECVRSPRESLDDLFQICSPCAIASGLRNDLAELTTLCLELNVLNSKIKSTSGHVDHTLQQYSPEILACQFLKKYFFLLNLKRAKESIKLSYSNSPSVWDTFIEGLKEMASSNPVYMEMEKGDLPTRLKLLDDEVPFDSPLLVVYATRLYEKFGESALRSLIKFFPSILPSDIIQLCHHHPAEFLAYLDSLVKSRPEDQRSSFLESLLQPESLRLDWLLLAVSLDAPPSTSTMDDEGYPRPHSHLLSWGYSQLILHLIKLPADFITKEKMTDICRSCGFWPGYLILCLELERRREAFTNIVYLNDMSLMEGDNGWIPETVEEWKLLLHLIQSKSTRPAPQESLNGSLSDGPSPINVENVALLLAKAMGPDRAWSLLQECGLALELSEKFTRTCDILRIAEKRQRALIQSMLEKCDRFLWSQQA
" misc_feature 1502..1504 /gene="HPS5" /gene_synonym="AIBP63" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" exon 599..732 /gene="HPS5" /gene_synonym="AIBP63" /inference="alignment:Splign:1.39.8" exon 733..945 /gene="HPS5" /gene_synonym="AIBP63" /inference="alignment:Splign:1.39.8" variation 943 /gene="HPS5" /gene_synonym="AIBP63" /replace="a" /replace="c" /db_xref="dbSNP:1140047" exon 946..1017 /gene="HPS5" /gene_synonym="AIBP63" /inference="alignment:Splign:1.39.8" exon 1018..1106 /gene="HPS5" /gene_synonym="AIBP63" /inference="alignment:Splign:1.39.8" exon 1107..1285 /gene="HPS5" /gene_synonym="AIBP63" /inference="alignment:Splign:1.39.8" exon 1286..1444 /gene="HPS5" /gene_synonym="AIBP63" /inference="alignment:Splign:1.39.8" exon 1445..1631 /gene="HPS5" /gene_synonym="AIBP63" /inference="alignment:Splign:1.39.8" exon 1632..1755 /gene="HPS5" /gene_synonym="AIBP63" /inference="alignment:Splign:1.39.8" exon 1756..1905 /gene="HPS5" /gene_synonym="AIBP63" /inference="alignment:Splign:1.39.8" exon 1906..1983 /gene="HPS5" /gene_synonym="AIBP63" /inference="alignment:Splign:1.39.8" exon 1984..2561 /gene="HPS5" /gene_synonym="AIBP63" /inference="alignment:Splign:1.39.8" exon 2562..2682 /gene="HPS5" /gene_synonym="AIBP63" /inference="alignment:Splign:1.39.8" exon 2683..2838 /gene="HPS5" /gene_synonym="AIBP63" /inference="alignment:Splign:1.39.8" exon 2839..2958 /gene="HPS5" /gene_synonym="AIBP63" /inference="alignment:Splign:1.39.8" exon 2959..3072 /gene="HPS5" /gene_synonym="AIBP63" /inference="alignment:Splign:1.39.8" exon 3073..3179 /gene="HPS5" /gene_synonym="AIBP63" /inference="alignment:Splign:1.39.8" exon 3180..3450 /gene="HPS5" /gene_synonym="AIBP63" /inference="alignment:Splign:1.39.8" exon 3451..4723 /gene="HPS5" /gene_synonym="AIBP63" /inference="alignment:Splign:1.39.8" STS 3584..4402 /gene="HPS5" /gene_synonym="AIBP63" /standard_name="HPS5__6585" /db_xref="UniSTS:463988" variation 3975 /gene="HPS5" /gene_synonym="AIBP63" /replace="a" /replace="c" /db_xref="dbSNP:1046611" variation 3986 /gene="HPS5" /gene_synonym="AIBP63" /replace="c" /replace="t" /db_xref="dbSNP:1046615" variation 4315 /gene="HPS5" /gene_synonym="AIBP63" /replace="c" /replace="t" /db_xref="dbSNP:1046628" STS 4445..4575 /gene="HPS5" /gene_synonym="AIBP63" /standard_name="STS-W46391" /db_xref="UniSTS:44452" polyA_signal 4606..4611 /gene="HPS5" /gene_synonym="AIBP63" polyA_site 4641 /gene="HPS5" /gene_synonym="AIBP63" misc_feature 4723 /gene="HPS5" /gene_synonym="AIBP63" /note="the 3' most polyA site is unknown" ORIGIN
cgcgaggggagactgaagttcacgttccgctcttagtgcgcggtgagttccccggcgctaagccgggagacaagatccgatctactgagagctgcgaggtactgccctggatgtggtggagctgggctgggacctccgggctgctggtctgtgagcctggctttgaaaattggttactgggtctcctctcaagaaatctcaagatattaaagttactgctgttaaaaagtgcacgagcatagctgtgtctcggaaatggttggctttgggcagttcaggaggaggactccatctcattcagaaagaaggctggaagcacaggctttttctttcacacagggaaggtgcaatttctcaagtcgcctgttgtttacatgatgatgattatgttgctgtagctaccagtcaaggtcttgtggttgtttgggaattaaatcaagagcgtcgtgggaaaccggaacaaatgtatgtgtcttcagaacacaaaggccgaagagtcacagctctctgctgggatacagctattcttagagtttttgtaggtgatcatgctgggaaggtttctgctatcaaactcaatacttctaaacaagcaaaggcagctgctgcttttgtgatgtttcctgttcagacaatcacaactgttgactcctgtgttgtacagttagattatttggatggaaggctacttatatcttcacttactcgatccttcttgtgtgacactgagagagaaaagttttggaaaattggaaacaaggaaagagatggagaatatggagcttgtttctttcctggaagatgttctgggggccagcaacctctgatatattgtgctcgcccaggctctaggatgtgggaagtgaactttgatggagaagttataagtacacatcagttcaagaaactcctctcgttgccacctctccctgtgattactctcagatcagaacctcagtatgatcatacagctggatcctcccagtctttgtctttccccaaactcttacatcttagtgagcattgtgtgctgacttggacagaaagaggaatttatattttcattcctcagaatgttcaagttcttctttggagtgaagtcaaagatattcaggatgtggctgtctgtaggaatgaattgttctgtttgcacctaaatgggaaagtctcacatctctccctgatatctgtggagcgctgtgtggaacgcctgctaagaagaggcctatggaacttggctgctcgtacatgctgtcttttccaaaattctgtcattgccagcagagcaagaaaaactttgactgcagataaattggagcatttgaaatctcagctggaccatggcacctacaatgatctaatttctcaactggaagaattgatcttaaaatttgaacctttggattcagcttgtagcagtagaagaagctccatttcatcacatgaaagtttcagcatcttggactctggtatttatcgtatcattagtagtagaagaggcagtcagtcagatgaagactcttgctcccttcacagccaaaccctctcagaagatgagagatttaaagaattcacctcacagcaggaagaggacctgccagatcagtgttgtggctcacacggaaatgaagacaatgtttctcatgctccagtgatgtttgagacagataagaatgaaacttttctcccgttcggcattccattaccatttcgttctccatctcctcttgtgtctcttcaggctgtcaaagaaagtgtttctagctttgtgcgtaaaactactgagaagattggcacccttcacacgagccctgatctgaaagtgagaccagagctcaggggtgatgagcaatcatgtgaagaggatgtgagttcagatacctgcccaaaggaggaagacactgaggaggaaaaagaggtaactagtccacctccagaagaagacaggttccaggagcttaaagtagcaacagcagaagcaatgaccaagctacaggaccctctggttttatttgaatccgagtctctgagaatggttttacaggagtggctttcacatttagaaaaaacatttgccatgaaggacttttcaggtgtttcagatactgacaactcatccatgaaattgaaccaggatgtgctattagttaatgaatcaaaaaagggaatattagatgaagataatgaaaaagaaaaaagggactctttaggcaatgaagaatctgttgataaaacagcatgtgaatgtgtaaggagtccaagggagtctttggatgacctgtttcaaatatgttctccatgcgccattgcaagtggtcttcggaacgacctggctgaattgacaacattatgtttggagttgaatgtattgaattctaagatcaaaagcaccagtggacatgtggaccacactttgcaacagtactctcctgaaattctggcttgccagttcctgaagaagtacttttttctcctgaacttgaaaagagcgaaggagagtatcaagcttagttacagtaatagcccttctgtttgggatacttttattgaaggattgaaagaaatggcaagttccaatcctgtgtatatggagatggaaaaaggagatctaccaacaaggttaaagttactagatgacgaggttccttttgatagtccgttgttggttgtttatgctacccggttgtatgaaaagtttggggagtctgctcttcgatccttaatcaagttctttccatccattttgccatcggatatcatacaactttgtcatcatcatcctgctgagtttttggcctatttagacagtctggtgaaatcaaggcctgaagatcagcggtcatcttttcttgagtcccttctgcaaccagagtctttaaggttggattggctgcttttggcagtgtcccttgatgctccaccaagcaccagcacaatggatgatgaaggttatcccaggcctcattcacacttgctttcctggggttacagtcagctgatccttcatctaattaaacttcctgcagattttataaccaaagagaaaatgacagacatctgcaggtcttgtggtttctggcctggatatctaattctctgtttggagctggagagaagaagagaggccttcaccaatattgtgtatctgaatgatatgagcctgatggaaggggacaatggttggatcccagagaccgtggaggaatggaagcttctccttcatctcatacagagcaagagcacgaggccagccccccaggagtcactaaatgggagcctcagtgatgggccttcccccatcaatgtggagaatgtggcacttctgttagctaaggccatgggcccagatcgggcttggtcactgctacaggaatgtggtctggcccttgagttgtcagagaagtttaccagaacctgcgatatcctgaggattgctgagaaaaggcagagggccttgatacaaagcatgcttgaaaaatgcgatcggtttctctggtcccagcaggcctagtgggagaagattcagcaggatgtcatgacattttgagaaaaactaaatcatgctcctgaaccttctgaacgcatttgttattgaaggaaagacaccacccccaaatcctgccatcttattggggctacttttgtcagtgtctgtacccttggcatcggcatctgtgactctttatccatgacctcagtgtttcttaaccaaagttgtactcagcatttcttaaccaaagttgaattttgaaaagagtcagtccttgtttgctggaattagaatgttaatgtcctagtattattccgaactacagtattaactgcttgttgctagtggattagacagattcttttcttactgtggcttccatgttgggagcagaagcttttcatcctggtcacatgaagacagatggtattattgactggagttgaattatttttatatcttgtctggcacaatatggaaattactgaaataagacggtgtataatggaattaacacccaaaataagtagaacactgaagatttgaatttgatatttaagtaaaatgggactgggtgcagtggctcaggcctgtaatcccaaccctttggaaggtaaagacgggaggatcacttgaggccaggagttcaagaccagcctgggcaacatagtgagaatgcatctctacaaaaaataaaaaaaattagctaggcatagtacctgaggccaggaggtccaggccgcaatgagatgtgtttgtgccattgcacaccagtctgggtgacagagaaagaccctgtctcaaaaacaaattaaataaaatatcttcatatataaattaagctaattaaaaatatttttccctgtatttatttaatattttctaatctgaacccatatacagctgactaattcattcttagaaatgtgttatctgtaatctttcctaaacagagtagcccacaagaatcatgcactttttaaaattatttctaagaagccataacaaagctgtgtactaataaagactgcagcaagcacttgtgttatttaaattatgtaagtagattgtcatttgtcaggctcctgtacatttacatagcatgttatattaataataaatgtaaaatatgactaaagttttcattggaacacaatgtagacaggaggtttattatgagcattttgcagaaaggtgtggagtaagtaaagtgttggatgcactgaacaattc
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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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