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2024-03-29 18:23:49, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_015957               1266 bp    mRNA    linear   PRI 07-JUL-2013
DEFINITION  Homo sapiens APAF1 interacting protein (APIP), mRNA.
ACCESSION   NM_015957
VERSION     NM_015957.2  GI:166235185
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 1266)
  AUTHORS   Kim DK, Cho MH, Hersh CP, Lomas DA, Miller BE, Kong X, Bakke P,
            Gulsvik A, Agusti A, Wouters E, Celli B, Coxson H, Vestbo J, MacNee
            W, Yates JC, Rennard S, Litonjua A, Qiu W, Beaty TH, Crapo JD,
            Riley JH, Tal-Singer R and Silverman EK.
  CONSRTM   ECLIPSE, ICGN, and COPDGene Investigators
  TITLE     Genome-wide association analysis of blood biomarkers in chronic
            obstructive pulmonary disease
  JOURNAL   Am. J. Respir. Crit. Care Med. 186 (12), 1238-1247 (2012)
   PUBMED   23144326
REFERENCE   2  (bases 1 to 1266)
  AUTHORS   Kang,W. and Yang,J.K.
  TITLE     Crystallization and preliminary X-ray crystallographic analysis of
            human Apaf-1-interacting protein
  JOURNAL   Acta Crystallogr. Sect. F Struct. Biol. Cryst. Commun. 68 (PT 12),
            1518-1520 (2012)
   PUBMED   23192037
  REMARK    GeneRIF: human APIP was overproduced in Escherichia coli, purified
            and crystallized. An X-ray diffraction data set was collected to
            2.40 A resolution
REFERENCE   3  (bases 1 to 1266)
  AUTHORS   Ko,D.C., Gamazon,E.R., Shukla,K.P., Pfuetzner,R.A., Whittington,D.,
            Holden,T.D., Brittnacher,M.J., Fong,C., Radey,M., Ogohara,C.,
            Stark,A.L., Akey,J.M., Dolan,M.E., Wurfel,M.M. and Miller,S.I.
  TITLE     Functional genetic screen of human diversity reveals that a
            methionine salvage enzyme regulates inflammatory cell death
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 109 (35), E2343-E2352 (2012)
   PUBMED   22837397
  REMARK    GeneRIF: A polymorphism associated with reduced expression of a
            putative methionine salvage pathway dehydratase, apoptotic protease
            activating factor 1 (APAF1)-interacting protein (APIP), was
            associated with increased caspase-1-mediated cell death in
            Salmonella.
REFERENCE   4  (bases 1 to 1266)
  AUTHORS   Moravcikova,E., Krepela,E., Prochazka,J., Rousalova,I., Cermak,J.
            and Benkova,K.
  TITLE     Down-regulated expression of apoptosis-associated genes APIP and
            UACA in non-small cell lung carcinoma
  JOURNAL   Int. J. Oncol. 40 (6), 2111-2121 (2012)
   PUBMED   22407486
  REMARK    GeneRIF: The down-regulation of APIP and UACA expression suggests
            that the threshold to activate the apoptosome apparatus may be
            decreased in non-small cell lung cancer cells.
REFERENCE   5  (bases 1 to 1266)
  AUTHORS   Wright,F.A., Strug,L.J., Doshi,V.K., Commander,C.W., Blackman,S.M.,
            Sun,L., Berthiaume,Y., Cutler,D., Cojocaru,A., Collaco,J.M.,
            Corey,M., Dorfman,R., Goddard,K., Green,D., Kent,J.W. Jr.,
            Lange,E.M., Lee,S., Li,W., Luo,J., Mayhew,G.M., Naughton,K.M.,
            Pace,R.G., Pare,P., Rommens,J.M., Sandford,A., Stonebraker,J.R.,
            Sun,W., Taylor,C., Vanscoy,L.L., Zou,F., Blangero,J., Zielenski,J.,
            O'Neal,W.K., Drumm,M.L., Durie,P.R., Knowles,M.R. and Cutting,G.R.
  TITLE     Genome-wide association and linkage identify modifier loci of lung
            disease severity in cystic fibrosis at 11p13 and 20q13.2
  JOURNAL   Nat. Genet. 43 (6), 539-546 (2011)
   PUBMED   21602797
REFERENCE   6  (bases 1 to 1266)
  AUTHORS   Flachsbart,F., Franke,A., Kleindorp,R., Caliebe,A., Blanche,H.,
            Schreiber,S. and Nebel,A.
  TITLE     Investigation of genetic susceptibility factors for human longevity
            - a targeted nonsynonymous SNP study
  JOURNAL   Mutat. Res. 694 (1-2), 13-19 (2010)
   PUBMED   20800603
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 1266)
  AUTHORS   Venkatesan,K., Rual,J.F., Vazquez,A., Stelzl,U., Lemmens,I.,
            Hirozane-Kishikawa,T., Hao,T., Zenkner,M., Xin,X., Goh,K.I.,
            Yildirim,M.A., Simonis,N., Heinzmann,K., Gebreab,F., Sahalie,J.M.,
            Cevik,S., Simon,C., de Smet,A.S., Dann,E., Smolyar,A.,
            Vinayagam,A., Yu,H., Szeto,D., Borick,H., Dricot,A., Klitgord,N.,
            Murray,R.R., Lin,C., Lalowski,M., Timm,J., Rau,K., Boone,C.,
            Braun,P., Cusick,M.E., Roth,F.P., Hill,D.E., Tavernier,J.,
            Wanker,E.E., Barabasi,A.L. and Vidal,M.
  TITLE     An empirical framework for binary interactome mapping
  JOURNAL   Nat. Methods 6 (1), 83-90 (2009)
   PUBMED   19060904
REFERENCE   8  (bases 1 to 1266)
  AUTHORS   Lamesch,P., Li,N., Milstein,S., Fan,C., Hao,T., Szabo,G., Hu,Z.,
            Venkatesan,K., Bethel,G., Martin,P., Rogers,J., Lawlor,S.,
            McLaren,S., Dricot,A., Borick,H., Cusick,M.E., Vandenhaute,J.,
            Dunham,I., Hill,D.E. and Vidal,M.
  TITLE     hORFeome v3.1: a resource of human open reading frames representing
            over 10,000 human genes
  JOURNAL   Genomics 89 (3), 307-315 (2007)
   PUBMED   17207965
REFERENCE   9  (bases 1 to 1266)
  AUTHORS   Cho,D.H., Hong,Y.M., Lee,H.J., Woo,H.N., Pyo,J.O., Mak,T.W. and
            Jung,Y.K.
  TITLE     Induced inhibition of ischemic/hypoxic injury by APIP, a novel
            Apaf-1-interacting protein
  JOURNAL   J. Biol. Chem. 279 (38), 39942-39950 (2004)
   PUBMED   15262985
  REMARK    GeneRIF: APIP functions to inhibit muscle ischemic damage by
            binding to Apaf-1 in the Apaf-1/caspase-9 apoptosis pathway.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA729016.1, BC009077.1 and AF088034.1.
            On Jan 30, 2008 this sequence version replaced gi:7705723.
            
            Summary: APIP is an APAF1 (MIM 602233)-interacting protein that
            acts as a negative regulator of ischemic/hypoxic injury (Cho et
            al., 2004 [PubMed 15262985]).[supplied by OMIM, Dec 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: DA729016.1, AF132963.1 [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
            1-67                DA729016.1         1-67
            68-1184             BC009077.1         1-1117
            1185-1266           AF088034.1         561-642
FEATURES             Location/Qualifiers
     source          1..1266
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p13"
     gene            1..1266
                     /gene="APIP"
                     /gene_synonym="APIP2; CGI-29; CGI29; dJ179L10.2; hAPIP;
                     MMRP19"
                     /note="APAF1 interacting protein"
                     /db_xref="GeneID:51074"
                     /db_xref="HGNC:17581"
                     /db_xref="MIM:612491"
     exon            1..165
                     /gene="APIP"
                     /gene_synonym="APIP2; CGI-29; CGI29; dJ179L10.2; hAPIP;
                     MMRP19"
                     /inference="alignment:Splign:1.39.8"
     variation       9
                     /gene="APIP"
                     /gene_synonym="APIP2; CGI-29; CGI29; dJ179L10.2; hAPIP;
                     MMRP19"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:2956111"
     variation       39
                     /gene="APIP"
                     /gene_synonym="APIP2; CGI-29; CGI29; dJ179L10.2; hAPIP;
                     MMRP19"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:2956112"
     misc_feature    49..51
                     /gene="APIP"
                     /gene_synonym="APIP2; CGI-29; CGI29; dJ179L10.2; hAPIP;
                     MMRP19"
                     /note="upstream in-frame stop codon"
     variation       56
                     /gene="APIP"
                     /gene_synonym="APIP2; CGI-29; CGI29; dJ179L10.2; hAPIP;
                     MMRP19"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:2956113"
     CDS             109..837
                     /gene="APIP"
                     /gene_synonym="APIP2; CGI-29; CGI29; dJ179L10.2; hAPIP;
                     MMRP19"
                     /EC_number="4.2.1.109"
                     /note="APAF1-interacting protein; probable
                     methylthioribulose-1-phosphate dehydratase; MTRu-1-P
                     dehydratase"
                     /codon_start=1
                     /product="methylthioribulose-1-phosphate dehydratase"
                     /protein_id="NP_057041.2"
                     /db_xref="GI:166235186"
                     /db_xref="CCDS:CCDS7895.1"
                     /db_xref="GeneID:51074"
                     /db_xref="HGNC:17581"
                     /db_xref="MIM:612491"
                     /translation="
MSGCDAREGDCCSRRCGAQDKEHPRYLIPELCKQFYHLGWVTGTGGGISLKHGDEIYIAPSGVQKERIQPEDMFVCDINEKDISGPSPSKKLKKSQCTPLFMNAYTMRGAGAVIHTHSKAAVMATLLFPGREFKITHQEMIKGIKKCTSGGYYRYDDMLVVPIIENTPEEKDLKDRMAHAMNEYPDSCAVLVRRHGVYVWGETWEKAKTMCECYDYLFDIAVSMKKVGLDPSQLPVGENGIV
"
     misc_feature    190..789
                     /gene="APIP"
                     /gene_synonym="APIP2; CGI-29; CGI29; dJ179L10.2; hAPIP;
                     MMRP19"
                     /note="methylthioribulose-1-phosphate dehydratase; Region:
                     salvage_mtnB; TIGR03328"
                     /db_xref="CDD:163216"
     misc_feature    order(196..198,208..210,232..234,298..300,304..309,
                     457..459,463..468,481..489,514..516,520..525,604..606,
                     688..690,721..723,742..744,754..756,775..777)
                     /gene="APIP"
                     /gene_synonym="APIP2; CGI-29; CGI29; dJ179L10.2; hAPIP;
                     MMRP19"
                     /note="intersubunit interface [polypeptide binding]; other
                     site"
                     /db_xref="CDD:29521"
     misc_feature    order(247..249,289..294,373..378,397..399,451..453,
                     457..459,691..693)
                     /gene="APIP"
                     /gene_synonym="APIP2; CGI-29; CGI29; dJ179L10.2; hAPIP;
                     MMRP19"
                     /note="active site"
                     /db_xref="CDD:29521"
     misc_feature    367..369
                     /gene="APIP"
                     /gene_synonym="APIP2; CGI-29; CGI29; dJ179L10.2; hAPIP;
                     MMRP19"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
                     (Q96GX9.1); phosphorylation site"
     misc_feature    order(451..453,457..459,691..693)
                     /gene="APIP"
                     /gene_synonym="APIP2; CGI-29; CGI29; dJ179L10.2; hAPIP;
                     MMRP19"
                     /note="Zn2+ binding site [ion binding]; other site"
                     /db_xref="CDD:29521"
     variation       127
                     /gene="APIP"
                     /gene_synonym="APIP2; CGI-29; CGI29; dJ179L10.2; hAPIP;
                     MMRP19"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:2956114"
     exon            166..266
                     /gene="APIP"
                     /gene_synonym="APIP2; CGI-29; CGI29; dJ179L10.2; hAPIP;
                     MMRP19"
                     /inference="alignment:Splign:1.39.8"
     exon            267..315
                     /gene="APIP"
                     /gene_synonym="APIP2; CGI-29; CGI29; dJ179L10.2; hAPIP;
                     MMRP19"
                     /inference="alignment:Splign:1.39.8"
     exon            316..433
                     /gene="APIP"
                     /gene_synonym="APIP2; CGI-29; CGI29; dJ179L10.2; hAPIP;
                     MMRP19"
                     /inference="alignment:Splign:1.39.8"
     exon            434..569
                     /gene="APIP"
                     /gene_synonym="APIP2; CGI-29; CGI29; dJ179L10.2; hAPIP;
                     MMRP19"
                     /inference="alignment:Splign:1.39.8"
     exon            570..737
                     /gene="APIP"
                     /gene_synonym="APIP2; CGI-29; CGI29; dJ179L10.2; hAPIP;
                     MMRP19"
                     /inference="alignment:Splign:1.39.8"
     exon            738..1259
                     /gene="APIP"
                     /gene_synonym="APIP2; CGI-29; CGI29; dJ179L10.2; hAPIP;
                     MMRP19"
                     /inference="alignment:Splign:1.39.8"
ORIGIN      
ctcagcgccgcctgattgcatttgcggcctcgctgccgtatcccaggctaagcgccgcgcgcaaagccgtgcggagattggaggccgcgcgggtccctggtctgggccatgtctggctgtgatgctcgggagggagactgttgttcccggagatgcggcgcgcaggacaaggagcatccaagatacctgatcccagaactttgcaaacagttttaccatttaggctgggtcactgggactggaggaggaattagcttgaagcatggcgatgaaatctacattgctccttcaggagtgcaaaaggaacgaattcagcctgaagacatgtttgtttgtgatataaatgaaaaggacataagtggaccttcgccatcgaagaagctaaaaaaaagccagtgtactcctcttttcatgaatgcttacacaatgagaggagcaggtgcagtgattcatacccactctaaagctgctgtgatggccacacttctctttccaggacgggagtttaaaattacacatcaagagatgataaaaggaataaagaaatgtacttccggagggtattatagatatgatgatatgttagtggtacccattattgagaatacacctgaggagaaagacctcaaagatagaatggctcatgcaatgaatgaatacccagactcctgtgcagtactggtcagacgtcatggagtatatgtgtggggggaaacatgggagaaggccaaaaccatgtgtgagtgttatgactatttatttgatattgccgtatcaatgaagaaagtaggacttgatccttcacagctcccagttggagaaaatggaattgtctaagccaaaagaaagtctaattatatacagagataaagctaaacgtaattattatttaaatgaaagctatttttttaaatgaattgaaatttttcatgatgctactaatttgccactaaatactgcaaatggtcaccctgaatctcttctgacattggatgttatttgcttatattcttataattttaaatgagggcacagtgaaatgaaaattttatactctatgtttctgtttatttttaaatccttaacagcaaaatatttgcctttaatttcttttttatatatactctcagagaattcctcttaatttttaaagatgctggtgataataaaattcattagaaaatttcctcattgtggaatgagcattctcttgttttaatgttggtgtcagaaaataaatatgaaacattaagtccaaaaaaaaaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:51074 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
            GeneID:51074 -> Molecular function: GO:0008270 [zinc ion binding] evidence: IEA
            GeneID:51074 -> Molecular function: GO:0042802 [identical protein binding] evidence: IPI
            GeneID:51074 -> Molecular function: GO:0046570 [methylthioribulose 1-phosphate dehydratase activity] evidence: TAS
            GeneID:51074 -> Biological process: GO:0000096 [sulfur amino acid metabolic process] evidence: TAS
            GeneID:51074 -> Biological process: GO:0006595 [polyamine metabolic process] evidence: TAS
            GeneID:51074 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA
            GeneID:51074 -> Biological process: GO:0019284 [L-methionine biosynthetic process from S-adenosylmethionine] evidence: IEA
            GeneID:51074 -> Biological process: GO:0019509 [L-methionine salvage from methylthioadenosine] evidence: IEA
            GeneID:51074 -> Biological process: GO:0019509 [L-methionine salvage from methylthioadenosine] evidence: IMP
            GeneID:51074 -> Biological process: GO:0019509 [L-methionine salvage from methylthioadenosine] evidence: TAS
            GeneID:51074 -> Biological process: GO:0034641 [cellular nitrogen compound metabolic process] evidence: TAS
            GeneID:51074 -> Biological process: GO:0043066 [negative regulation of apoptotic process] evidence: IMP
            GeneID:51074 -> Biological process: GO:0044281 [small molecule metabolic process] evidence: TAS
            GeneID:51074 -> Biological process: GO:0070372 [regulation of ERK1 and ERK2 cascade] evidence: ISS
            GeneID:51074 -> Cellular component: GO:0005829 [cytosol] evidence: TAS
ANNOTATIONS from NCBI Entrez Gene (20130726):
            NP_057041 -> EC 4.2.1.109

by @meso_cacase at DBCLS
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