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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
//

Annotations:

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

by @meso_cacase at DBCLS
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