2024-04-26 02:30:13, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001256192 1569 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens programmed cell death 6 interacting protein (PDCD6IP), transcript variant 4, mRNA. ACCESSION NM_001256192 NR_027868 VERSION NM_001256192.1 GI:371875426 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 1569) AUTHORS Dowlatshahi,D.P., Sandrin,V., Vivona,S., Shaler,T.A., Kaiser,S.E., Melandri,F., Sundquist,W.I. and Kopito,R.R. TITLE ALIX is a Lys63-specific polyubiquitin binding protein that functions in retrovirus budding JOURNAL Dev. Cell 23 (6), 1247-1254 (2012) PUBMED 23201121 REMARK GeneRIF: study reports that the V domain of ALIX binds directly and selectively to K63-linked polyubiquitin chains, exhibiting a strong preference for chains composed of more than three ubiquitins REFERENCE 2 (bases 1 to 1569) AUTHORS Lee,C.P., Liu,P.T., Kung,H.N., Su,M.T., Chua,H.H., Chang,Y.H., Chang,C.W., Tsai,C.H., Liu,F.T. and Chen,M.R. TITLE The ESCRT machinery is recruited by the viral BFRF1 protein to the nucleus-associated membrane for the maturation of Epstein-Barr Virus JOURNAL PLoS Pathog. 8 (9), E1002904 (2012) PUBMED 22969426 REMARK GeneRIF: BFRF1 recruits the ESCRT components to modulate nuclear envelope for the nuclear egress of Epstein Barr virus. REFERENCE 3 (bases 1 to 1569) AUTHORS Dores,M.R., Paing,M.M., Lin,H., Montagne,W.A., Marchese,A. and Trejo,J. TITLE AP-3 regulates PAR1 ubiquitin-independent MVB/lysosomal sorting via an ALIX-mediated pathway JOURNAL Mol. Biol. Cell 23 (18), 3612-3623 (2012) PUBMED 22833563 REMARK GeneRIF: Data indicate that AP-3 facilitates PAR1 interaction with ALIX. REFERENCE 4 (bases 1 to 1569) AUTHORS Mondal,G., Rowley,M., Guidugli,L., Wu,J., Pankratz,V.S. and Couch,F.J. TITLE BRCA2 localization to the midbody by filamin A regulates cep55 signaling and completion of cytokinesis JOURNAL Dev. Cell 23 (1), 137-152 (2012) PUBMED 22771033 REMARK GeneRIF: At the midbody, BRCA2 influences the recruitment of endosomal sorting complex required for transport (ESCRT)-associated proteins, Alix and Tsg101, and formation of CEP55-Alix and CEP55-Tsg101 complexes during abscission. REFERENCE 5 (bases 1 to 1569) AUTHORS Maki,M., Suzuki,H. and Shibata,H. TITLE Structure and function of ALG-2, a penta-EF-hand calcium-dependent adaptor protein JOURNAL Sci China Life Sci 54 (8), 770-779 (2011) PUBMED 21786200 REMARK Review article REFERENCE 6 (bases 1 to 1569) AUTHORS Chatellard-Causse,C., Blot,B., Cristina,N., Torch,S., Missotten,M. and Sadoul,R. TITLE Alix (ALG-2-interacting protein X), a protein involved in apoptosis, binds to endophilins and induces cytoplasmic vacuolization JOURNAL J. Biol. Chem. 277 (32), 29108-29115 (2002) PUBMED 12034747 REFERENCE 7 (bases 1 to 1569) AUTHORS Wu,Y., Pan,S., Che,S., He,G., Nelman-Gonzalez,M., Weil,M.M. and Kuang,J. TITLE Overexpression of Hp95 induces G1 phase arrest in confluent HeLa cells JOURNAL Differentiation 67 (4-5), 139-153 (2001) PUBMED 11683497 REFERENCE 8 (bases 1 to 1569) AUTHORS Missotten,M., Nichols,A., Rieger,K. and Sadoul,R. TITLE Alix, a novel mouse protein undergoing calcium-dependent interaction with the apoptosis-linked-gene 2 (ALG-2) protein JOURNAL Cell Death Differ. 6 (2), 124-129 (1999) PUBMED 10200558 REFERENCE 9 (bases 1 to 1569) AUTHORS Vito,P., Pellegrini,L., Guiet,C. and D'Adamio,L. TITLE Cloning of AIP1, a novel protein that associates with the apoptosis-linked gene ALG-2 in a Ca2+-dependent reaction JOURNAL J. Biol. Chem. 274 (3), 1533-1540 (1999) PUBMED 9880530 REFERENCE 10 (bases 1 to 1569) AUTHORS Robertson,N.G., Khetarpal,U., Gutierrez-Espeleta,G.A., Bieber,F.R. and Morton,C.C. TITLE Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening JOURNAL Genomics 23 (1), 42-50 (1994) PUBMED 7829101 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA652213.1, GQ131806.1 and AI346371.1. On Jan 11, 2012 this sequence version replaced gi:241982791. Summary: This gene encodes a protein that functions within the ESCRT pathway in the abscission stage of cytokinesis, in intralumenal endosomal vesicle formation, and in enveloped virus budding. Studies using mouse cells have shown that overexpression of this protein can block apoptosis. In addition, the product of this gene binds to the product of the PDCD6 gene, a protein required for apoptosis, in a calcium-dependent manner. This gene product also binds to endophilins, proteins that regulate membrane shape during endocytosis. Overexpression of this gene product and endophilins results in cytoplasmic vacuolization, which may be partly responsible for the protection against cell death. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. Related pseudogenes have been identified on chromosome 15. [provided by RefSeq, Jan 2012]. Transcript Variant: This variant (4) lacks several 3' exons but contains an alternate 3' exon, and it thus differs in the 3' coding region and 3' UTR, compared to variant 2. The encoded isoform (3) has a distinct and significantly shorter C-terminus, compared to isoform 2. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: GQ131806.1, BQ892829.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025081, ERS025082 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-74 DA652213.1 1-74 75-1209 GQ131806.1 1-1135 1210-1569 AI346371.1 1-360 c FEATURES Location/Qualifiers source 1..1569 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="3" /map="3p22.3" gene 1..1569 /gene="PDCD6IP" /gene_synonym="AIP1; ALIX; DRIP4; HP95" /note="programmed cell death 6 interacting protein" /db_xref="GeneID:10015" /db_xref="HGNC:8766" /db_xref="MIM:608074" exon 1..367 /gene="PDCD6IP" /gene_synonym="AIP1; ALIX; DRIP4; HP95" /inference="alignment:Splign:1.39.8" variation 37 /gene="PDCD6IP" /gene_synonym="AIP1; ALIX; DRIP4; HP95" /replace="a" /replace="g" /db_xref="dbSNP:28381976" variation 52 /gene="PDCD6IP" /gene_synonym="AIP1; ALIX; DRIP4; HP95" /replace="c" /replace="t" /db_xref="dbSNP:1141054" variation 65..66 /gene="PDCD6IP" /gene_synonym="AIP1; ALIX; DRIP4; HP95" /replace="" /replace="tccgccag" /db_xref="dbSNP:372627622" variation 80 /gene="PDCD6IP" /gene_synonym="AIP1; ALIX; DRIP4; HP95" /replace="a" /replace="c" /db_xref="dbSNP:368948546" variation 90 /gene="PDCD6IP" /gene_synonym="AIP1; ALIX; DRIP4; HP95" /replace="c" /replace="t" /db_xref="dbSNP:189555154" variation 134 /gene="PDCD6IP" /gene_synonym="AIP1; ALIX; DRIP4; HP95" /replace="c" /replace="t" /db_xref="dbSNP:371387868" variation 151 /gene="PDCD6IP" /gene_synonym="AIP1; ALIX; DRIP4; HP95" /replace="a" /replace="c" /db_xref="dbSNP:376758894" CDS 159..974 /gene="PDCD6IP" /gene_synonym="AIP1; ALIX; DRIP4; HP95" /note="isoform 3 is encoded by transcript variant 4; ALG-2 interacting protein 1; dopamine receptor interacting protein 4; apoptosis-linked gene 2-interacting protein X; PDCD6-interacting protein; ALG-2-interacting protein X" /codon_start=1 /product="programmed cell death 6-interacting protein isoform 3" /protein_id="NP_001243121.1" /db_xref="GI:371875427" /db_xref="GeneID:10015" /db_xref="HGNC:8766" /db_xref="MIM:608074" /translation="
MATFISVQLKKTSEVDLAKPLVKFIQQTYPSGGEEQAQYCRAAEELSKLRRAAVGRPLDKHEGALETLLRYYDQICSIEPKFPFSENQICLTFTWKDAFDKGSLFGGSVKLALASLGYEKSCVLFNCAALASQIAAEQNLDNDEGLKIAAKHYQFASGAFLHIKETVLSALSREPTVDISPDTVGTLSLIMLAQAQEVFFLKATRDKMKDAIIAKLANQAADYFGDAFKQCQYKDTLPKVSYCFYKHLLTLHVKYLDFFVYKKQVETYKEI
" misc_feature 162..>875 /gene="PDCD6IP" /gene_synonym="AIP1; ALIX; DRIP4; HP95" /note="Protein-interacting Bro1-like domain of mammalian Alix and related domains; Region: BRO1_Alix_like; cl14649" /db_xref="CDD:187403" misc_feature 168..>920 /gene="PDCD6IP" /gene_synonym="AIP1; ALIX; DRIP4; HP95" /note="BRO1-like domain; Region: BRO1; smart01041" /db_xref="CDD:198109" misc_feature order(549..551,558..560,597..599,606..611,753..755, 762..767,792..794,801..806) /gene="PDCD6IP" /gene_synonym="AIP1; ALIX; DRIP4; HP95" /note="putative ESCRT-III binding site; other site" /db_xref="CDD:185761" variation 172 /gene="PDCD6IP" /gene_synonym="AIP1; ALIX; DRIP4; HP95" /replace="c" /replace="t" /db_xref="dbSNP:200697599" variation 177 /gene="PDCD6IP" /gene_synonym="AIP1; ALIX; DRIP4; HP95" /replace="a" /replace="g" /db_xref="dbSNP:11554560" variation 198 /gene="PDCD6IP" /gene_synonym="AIP1; ALIX; DRIP4; HP95" /replace="c" /replace="g" /db_xref="dbSNP:199826661" variation 236 /gene="PDCD6IP" /gene_synonym="AIP1; ALIX; DRIP4; HP95" /replace="a" /replace="g" /db_xref="dbSNP:140757943" variation 237 /gene="PDCD6IP" /gene_synonym="AIP1; ALIX; DRIP4; HP95" /replace="c" /replace="g" /db_xref="dbSNP:371329482" variation 273 /gene="PDCD6IP" /gene_synonym="AIP1; ALIX; DRIP4; HP95" /replace="c" /replace="t" /db_xref="dbSNP:373978156" variation 281 /gene="PDCD6IP" /gene_synonym="AIP1; ALIX; DRIP4; HP95" /replace="a" /replace="c" /db_xref="dbSNP:368086022" variation 294 /gene="PDCD6IP" /gene_synonym="AIP1; ALIX; DRIP4; HP95" /replace="c" /replace="g" /db_xref="dbSNP:370244363" variation 303 /gene="PDCD6IP" /gene_synonym="AIP1; ALIX; DRIP4; HP95" /replace="c" /replace="t" /db_xref="dbSNP:374913087" variation 328 /gene="PDCD6IP" /gene_synonym="AIP1; ALIX; DRIP4; HP95" /replace="c" /replace="t" /db_xref="dbSNP:368462021" variation 341 /gene="PDCD6IP" /gene_synonym="AIP1; ALIX; DRIP4; HP95" /replace="a" /replace="c" /db_xref="dbSNP:182203537" variation 351 /gene="PDCD6IP" /gene_synonym="AIP1; ALIX; DRIP4; HP95" /replace="a" /replace="c" /db_xref="dbSNP:374644579" exon 368..422 /gene="PDCD6IP" /gene_synonym="AIP1; ALIX; DRIP4; HP95" /inference="alignment:Splign:1.39.8" variation 401 /gene="PDCD6IP" /gene_synonym="AIP1; ALIX; DRIP4; HP95" /replace="a" /replace="g" /db_xref="dbSNP:138503843" variation 405 /gene="PDCD6IP" /gene_synonym="AIP1; ALIX; DRIP4; HP95" /replace="c" /replace="t" /db_xref="dbSNP:145549670" variation 414 /gene="PDCD6IP" /gene_synonym="AIP1; ALIX; DRIP4; HP95" /replace="a" /replace="g" /db_xref="dbSNP:201762719" exon 423..492 /gene="PDCD6IP" /gene_synonym="AIP1; ALIX; DRIP4; HP95" /inference="alignment:Splign:1.39.8" variation 428 /gene="PDCD6IP" /gene_synonym="AIP1; ALIX; DRIP4; HP95" /replace="c" /replace="t" /db_xref="dbSNP:370717543" variation 455 /gene="PDCD6IP" /gene_synonym="AIP1; ALIX; DRIP4; HP95" /replace="c" /replace="t" /db_xref="dbSNP:149504311" variation 482 /gene="PDCD6IP" /gene_synonym="AIP1; ALIX; DRIP4; HP95" /replace="c" /replace="t" /db_xref="dbSNP:148116117" exon 493..620 /gene="PDCD6IP" /gene_synonym="AIP1; ALIX; DRIP4; HP95" /inference="alignment:Splign:1.39.8" variation 495 /gene="PDCD6IP" /gene_synonym="AIP1; ALIX; DRIP4; HP95" /replace="c" /replace="t" /db_xref="dbSNP:371038293" variation 508 /gene="PDCD6IP" /gene_synonym="AIP1; ALIX; DRIP4; HP95" /replace="g" /replace="t" /db_xref="dbSNP:374162851" variation 602 /gene="PDCD6IP" /gene_synonym="AIP1; ALIX; DRIP4; HP95" /replace="c" /replace="t" /db_xref="dbSNP:112654570" variation 603 /gene="PDCD6IP" /gene_synonym="AIP1; ALIX; DRIP4; HP95" /replace="g" /replace="t" /db_xref="dbSNP:368375025" exon 621..774 /gene="PDCD6IP" /gene_synonym="AIP1; ALIX; DRIP4; HP95" /inference="alignment:Splign:1.39.8" variation 655 /gene="PDCD6IP" /gene_synonym="AIP1; ALIX; DRIP4; HP95" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:202035864" variation 656 /gene="PDCD6IP" /gene_synonym="AIP1; ALIX; DRIP4; HP95" /replace="a" /replace="g" /db_xref="dbSNP:369522029" variation 673 /gene="PDCD6IP" /gene_synonym="AIP1; ALIX; DRIP4; HP95" /replace="a" /replace="g" /db_xref="dbSNP:144962999" variation 686 /gene="PDCD6IP" /gene_synonym="AIP1; ALIX; DRIP4; HP95" /replace="c" /replace="t" /db_xref="dbSNP:150039307" variation 723 /gene="PDCD6IP" /gene_synonym="AIP1; ALIX; DRIP4; HP95" /replace="c" /replace="g" /db_xref="dbSNP:145300590" exon 775..1559 /gene="PDCD6IP" /gene_synonym="AIP1; ALIX; DRIP4; HP95" /inference="alignment:Splign:1.39.8" variation 831 /gene="PDCD6IP" /gene_synonym="AIP1; ALIX; DRIP4; HP95" /replace="a" /replace="g" /db_xref="dbSNP:112770546" variation 837 /gene="PDCD6IP" /gene_synonym="AIP1; ALIX; DRIP4; HP95" /replace="a" /replace="g" /db_xref="dbSNP:143264432" variation 865 /gene="PDCD6IP" /gene_synonym="AIP1; ALIX; DRIP4; HP95" /replace="c" /replace="t" /db_xref="dbSNP:368925669" variation 884 /gene="PDCD6IP" /gene_synonym="AIP1; ALIX; DRIP4; HP95" /replace="c" /replace="t" /db_xref="dbSNP:370773607" variation 907 /gene="PDCD6IP" /gene_synonym="AIP1; ALIX; DRIP4; HP95" /replace="c" /replace="t" /db_xref="dbSNP:189083325" variation 910 /gene="PDCD6IP" /gene_synonym="AIP1; ALIX; DRIP4; HP95" /replace="g" /replace="t" /db_xref="dbSNP:111356602" variation 969 /gene="PDCD6IP" /gene_synonym="AIP1; ALIX; DRIP4; HP95" /replace="a" /replace="g" /db_xref="dbSNP:113593059" variation 971 /gene="PDCD6IP" /gene_synonym="AIP1; ALIX; DRIP4; HP95" /replace="c" /replace="t" /db_xref="dbSNP:368958416" variation 1013..1014 /gene="PDCD6IP" /gene_synonym="AIP1; ALIX; DRIP4; HP95" /replace="" /replace="t" /db_xref="dbSNP:5847793" variation 1014..1015 /gene="PDCD6IP" /gene_synonym="AIP1; ALIX; DRIP4; HP95" /replace="" /replace="t" /db_xref="dbSNP:35254856" variation 1015 /gene="PDCD6IP" /gene_synonym="AIP1; ALIX; DRIP4; HP95" /replace="a" /replace="t" /db_xref="dbSNP:80148260" variation 1026..1028 /gene="PDCD6IP" /gene_synonym="AIP1; ALIX; DRIP4; HP95" /replace="" /replace="ttt" /db_xref="dbSNP:80061840" variation 1091 /gene="PDCD6IP" /gene_synonym="AIP1; ALIX; DRIP4; HP95" /replace="a" /replace="g" /db_xref="dbSNP:74965802" variation 1104 /gene="PDCD6IP" /gene_synonym="AIP1; ALIX; DRIP4; HP95" /replace="c" /replace="t" /db_xref="dbSNP:150347086" variation 1178..1179 /gene="PDCD6IP" /gene_synonym="AIP1; ALIX; DRIP4; HP95" /replace="" /replace="tc" /db_xref="dbSNP:139661014" variation 1212 /gene="PDCD6IP" /gene_synonym="AIP1; ALIX; DRIP4; HP95" /replace="a" /replace="g" /db_xref="dbSNP:62252774" variation 1235 /gene="PDCD6IP" /gene_synonym="AIP1; ALIX; DRIP4; HP95" /replace="a" /replace="g" /db_xref="dbSNP:374437912" variation 1280 /gene="PDCD6IP" /gene_synonym="AIP1; ALIX; DRIP4; HP95" /replace="a" /replace="c" /db_xref="dbSNP:200371377" variation 1446 /gene="PDCD6IP" /gene_synonym="AIP1; ALIX; DRIP4; HP95" /replace="g" /replace="t" /db_xref="dbSNP:142669304" polyA_signal 1537..1542 /gene="PDCD6IP" /gene_synonym="AIP1; ALIX; DRIP4; HP95" polyA_site 1559 /gene="PDCD6IP" /gene_synonym="AIP1; ALIX; DRIP4; HP95" ORIGIN
gctggagctcccggaagttgccggacccggaacgcaggcggagcgcaagtctgtcagccagtcagtccgccagtccgccagcccagtacctctctctcctcggccctcgtaagctgtccgcggtctgtttggcccgaacggcggcggaggcgctgatcatggcgacattcatctcggtgcagctgaaaaagacctcagaggtggacctggccaagccgctggtgaagttcatccagcagacttacccaagcggcggggaagagcaggcccagtactgccgcgcggcggaggagctcagcaagctgcgccgcgccgcagtcggtcgtccgctggacaagcacgagggcgcgctcgagacgctcctgagatattatgatcagatttgttctattgaacccaaattcccattttctgaaaatcagatctgcttgacatttacctggaaggatgctttcgataaaggttcactttttggaggctctgtaaaactggctcttgcaagcttaggatatgaaaagagctgtgtgttgttcaattgtgcagccttagctagccaaattgcagcagaacagaacctggataatgatgaaggattgaaaatcgctgctaaacattaccagtttgctagtggtgcctttttacatattaaagagacggttttatctgccttaagtcgagagccgaccgtggacatatctccagatactgttgggaccctcagtcttattatgctggcacaggctcaagaagtattttttttaaaagccacaagagataaaatgaaagatgccatcatagctaaattggctaatcaggctgcagattattttggtgatgctttcaaacagtgtcaatacaaagatactctccccaaggtcagttattgtttttataaacacttgcttactttgcatgtgaaatatttagacttttttgtgtataagaagcaagttgaaacttataaagaaatttgaagttttaatagagttatctgaagtatatagtagaaatagtttttttttttttttaatttaagatgcatgaacaattcttttatgtttaggggatgcctttgtctttaccttttactaaacttgtttttccaagctagaactctttctggaaaatgttgaccatctgttttcaatacttttatcaaatcaaggcattgtgtagttctgaatcattggtgatttggtacaagcatgtatacttgagcatgttgatgattcacacttttaattattgtcctgttttcttaaagatgagccttaaagcgcaaaaacagacataaagaaaaaaggaaaagaaaacttaacaaattcatctgatactttgattagaattcagttttgccaacagggataaaaaattgggctgctaatggacagctaaggaaagcaaccatcttaaaccacatatcacaggaagtataatgttttaatgtaaacctttctgaagtgacaattgtaaagactattcagtgatgatcatttgttaatgacaaagcaaatcactagtaaatttggaatgattaataaagaaaacttaaagattgaaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:10015 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:10015 -> Molecular function: GO:0017124 [SH3 domain binding] evidence: IEA GeneID:10015 -> Molecular function: GO:0046983 [protein dimerization activity] evidence: IEA GeneID:10015 -> Molecular function: GO:0048306 [calcium-dependent protein binding] evidence: IPI GeneID:10015 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA GeneID:10015 -> Biological process: GO:0007049 [cell cycle] evidence: IEA GeneID:10015 -> Biological process: GO:0015031 [protein transport] evidence: IEA GeneID:10015 -> Biological process: GO:0016032 [viral process] evidence: TAS GeneID:10015 -> Biological process: GO:0019048 [modulation by virus of host morphology or physiology] evidence: IEA GeneID:10015 -> Biological process: GO:0019067 [viral assembly, maturation, egress, and release] evidence: TAS GeneID:10015 -> Biological process: GO:0051301 [cell division] evidence: IEA GeneID:10015 -> Cellular component: GO:0005737 [cytoplasm] evidence: IDA GeneID:10015 -> Cellular component: GO:0005815 [microtubule organizing center] evidence: IEA GeneID:10015 -> Cellular component: GO:0005829 [cytosol] evidence: TAS GeneID:10015 -> Cellular component: GO:0042470 [melanosome] evidence: IEA
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