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2024-05-08 08:41:55, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_018010 3223 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens intraflagellar transport 57 homolog (Chlamydomonas)
(IFT57), mRNA.
ACCESSION NM_018010
VERSION NM_018010.3 GI:187936936
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 3223)
AUTHORS Datta,M. and Bhattacharyya,N.P.
TITLE Regulation of RE1 protein silencing transcription factor (REST)
expression by HIP1 protein interactor (HIPPI)
JOURNAL J. Biol. Chem. 286 (39), 33759-33769 (2011)
PUBMED 21832040
REMARK GeneRIF: novel transcription regulatory mechanism of REST by HIPPI
may contribute to the deregulation of transcription observed in the
cell model of Huntington disease.
REFERENCE 2 (bases 1 to 3223)
AUTHORS Datta,M., Choudhury,A., Lahiri,A. and Bhattacharyya,N.P.
TITLE Genome wide gene expression regulation by HIP1 Protein Interactor,
HIPPI: prediction and validation
JOURNAL BMC Genomics 12, 463 (2011)
PUBMED 21943362
REMARK GeneRIF: HIPPI-P53 interaction was necessary for HIPPI mediated
up-regulation of Caspase1 gene.
Publication Status: Online-Only
REFERENCE 3 (bases 1 to 3223)
AUTHORS Gdynia,G., Lehmann-Koch,J., Sieber,S., Tagscherer,K.E., Fassl,A.,
Zentgraf,H., Matsuzawa,S., Reed,J.C. and Roth,W.
TITLE BLOC1S2 interacts with the HIPPI protein and sensitizes NCH89
glioblastoma cells to apoptosis
JOURNAL Apoptosis 13 (3), 437-447 (2008)
PUBMED 18188704
REMARK GeneRIF: Over-expression of BLOC1S2 in presence or absence of HIPPI
does not induce apoptosis. However, BLOC1S2 & HIPPI sensitize NCH89
glioblastoma cells to pro-apoptotic actions of staurosporine &
death ligand TRAIL.
REFERENCE 4 (bases 1 to 3223)
AUTHORS Majumder,P., Chattopadhyay,B., Sukanya,S., Ray,T., Banerjee,M.,
Mukhopadhyay,D. and Bhattacharyya,N.P.
TITLE Interaction of HIPPI with putative promoter sequence of caspase-1
in vitro and in vivo
JOURNAL Biochem. Biophys. Res. Commun. 353 (1), 80-85 (2007)
PUBMED 17173859
REMARK GeneRIF: In summary, we showed that HIPPI could interact with the
putative promoter sequence of caspase-1 and increased the
expression of the downstream gene suggesting that HIPPI could act
as transcription regulator.
REFERENCE 5 (bases 1 to 3223)
AUTHORS Banerjee,M., Majumder,P., Bhattacharyya,N.P., Dattagupta,J.K. and
Sen,U.
TITLE Cloning, expression, purification, crystallization and preliminary
crystallographic analysis of pseudo death-effector domain of HIPPI,
a molecular partner of Huntingtin-interacting protein HIP-1
JOURNAL Acta Crystallogr. Sect. F Struct. Biol. Cryst. Commun. 62 (PT 12),
1247-1250 (2006)
PUBMED 17142908
REMARK GeneRIF: Crystals of the pDED of HIPPI were grown in space group
P4(1), with unit-cell parameters a = b = 77.42, c = 33.31 A and a
calculated Matthews coefficient of 1.88 A3 Da(-1) (33% solvent
content) with two molecules per asymmetric unit.
REFERENCE 6 (bases 1 to 3223)
AUTHORS Baker,S.A., Freeman,K., Luby-Phelps,K., Pazour,G.J. and
Besharse,J.C.
TITLE IFT20 links kinesin II with a mammalian intraflagellar transport
complex that is conserved in motile flagella and sensory cilia
JOURNAL J. Biol. Chem. 278 (36), 34211-34218 (2003)
PUBMED 12821668
REFERENCE 7 (bases 1 to 3223)
AUTHORS Cheng,C.M., Huang,S.P., Chang,Y.F., Chung,W.Y. and Yuo,C.Y.
TITLE The viral death protein Apoptin interacts with Hippi, the protein
interactor of Huntingtin-interacting protein 1
JOURNAL Biochem. Biophys. Res. Commun. 305 (2), 359-364 (2003)
PUBMED 12745083
REMARK GeneRIF: Hippi interacts with the viral death protein Apoptin.
REFERENCE 8 (bases 1 to 3223)
AUTHORS Gervais,F.G., Singaraja,R., Xanthoudakis,S., Gutekunst,C.A.,
Leavitt,B.R., Metzler,M., Hackam,A.S., Tam,J., Vaillancourt,J.P.,
Houtzager,V., Rasper,D.M., Roy,S., Hayden,M.R. and Nicholson,D.W.
TITLE Recruitment and activation of caspase-8 by the
Huntingtin-interacting protein Hip-1 and a novel partner Hippi
JOURNAL Nat. Cell Biol. 4 (2), 95-105 (2002)
PUBMED 11788820
REMARK GeneRIF: Results show that pro-apoptotic Hippi-Hip-1 heterodimers
can recruit procaspase-8 into a complex of Hippi, Hip-1 and
procaspase-8, and launch apoptosis through components of the
'extrinsic' cell-death pathway.
REFERENCE 9 (bases 1 to 3223)
AUTHORS Mattson,M.P.
TITLE Accomplices to neuronal death
JOURNAL Nature 415 (6870), 377-379 (2002)
PUBMED 11807533
REMARK GeneRIF: critical for the death-promoting effects of mutant
huntingtin protein in cultured cells
REFERENCE 10 (bases 1 to 3223)
AUTHORS Kalchman,M.A., Koide,H.B., McCutcheon,K., Graham,R.K., Nichol,K.,
Nishiyama,K., Kazemi-Esfarjani,P., Lynn,F.C., Wellington,C.,
Metzler,M., Goldberg,Y.P., Kanazawa,I., Gietz,R.D. and Hayden,M.R.
TITLE HIP1, a human homologue of S. cerevisiae Sla2p, interacts with
membrane-associated huntingtin in the brain
JOURNAL Nat. Genet. 16 (1), 44-53 (1997)
PUBMED 9140394
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
DA362330.1, BC011899.2, AC012020.17 and AF139576.1.
On May 10, 2008 this sequence version replaced gi:19923513.
Sequence Note: This RefSeq record was created from transcript and
genomic sequence data because no single transcript was available
for the full length of the gene. The extent of this transcript is
supported by transcript alignments and orthologous data.
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 :: AF139576.1, BC011899.2 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025084 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-151 DA362330.1 1-151
152-1744 BC011899.2 1-1593
1745-2876 AC012020.17 150618-151749 c
2877-3223 AF139576.1 2706-3052
FEATURES Location/Qualifiers
source 1..3223
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="3"
/map="3q13.13"
gene 1..3223
/gene="IFT57"
/gene_synonym="ESRRBL1; HIPPI; MHS4R2"
/note="intraflagellar transport 57 homolog
(Chlamydomonas)"
/db_xref="GeneID:55081"
/db_xref="HGNC:17367"
/db_xref="HPRD:09430"
/db_xref="MIM:606621"
exon 1..460
/gene="IFT57"
/gene_synonym="ESRRBL1; HIPPI; MHS4R2"
/inference="alignment:Splign:1.39.8"
variation 77..78
/gene="IFT57"
/gene_synonym="ESRRBL1; HIPPI; MHS4R2"
/replace="a"
/replace="g"
/db_xref="dbSNP:11556403"
misc_feature 195..197
/gene="IFT57"
/gene_synonym="ESRRBL1; HIPPI; MHS4R2"
/note="upstream in-frame stop codon"
CDS 249..1538
/gene="IFT57"
/gene_synonym="ESRRBL1; HIPPI; MHS4R2"
/note="HIP1 protein interactor; estrogen-related receptor
beta like 1; huntingtin interacting protein-1 interacting
protein; HIP1-interacting protein; dermal papilla-derived
protein 8; estrogen-related receptor beta-like protein 1"
/codon_start=1
/product="intraflagellar transport protein 57 homolog"
/protein_id="NP_060480.1"
/db_xref="GI:8922256"
/db_xref="CCDS:CCDS2951.1"
/db_xref="GeneID:55081"
/db_xref="HGNC:17367"
/db_xref="HPRD:09430"
/db_xref="MIM:606621"
/translation="
MTAALAVVTTSGLEDGVPRSRGEGTGEVVLERGPGAAYHMFVVMEDLVEKLKLLRYEEEFLRKSNLKAPSRHYFALPTNPGEQFYMFCTLAAWLINKAGRPFEQPQEYDDPNATISNILSELRSFGRTADFPPSKLKSGYGEHVCYVLDCFAEEALKYIGFTWKRPIYPVEELEEESVAEDDAELTLNKVDEEFVEEETDNEENFIDLNVLKAQTYHLDMNETAKQEDILESTTDAAEWSLEVERVLPQLKVTIRTDNKDWRIHVDQMHQHRSGIESALKETKGFLDKLHNEITRTLEKISSREKYINNQLENLVQEYRAAQAQLSEAKERYQQGNGGVTERTRLLSEVMEELEKVKQEMEEKGSSMTDGAPLVKIKQSLTKLKQETVEMDIRIGIVEHTLLQSKLKEKSNMTRNMHATVIPEPATGFY
"
misc_feature 378..1454
/gene="IFT57"
/gene_synonym="ESRRBL1; HIPPI; MHS4R2"
/note="Intra-flagellar transport protein 57; Region:
IFT57; pfam10498"
/db_xref="CDD:151058"
misc_feature 1251..1526
/gene="IFT57"
/gene_synonym="ESRRBL1; HIPPI; MHS4R2"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9NWB7.1);
Region: pDED"
variation 429
/gene="IFT57"
/gene_synonym="ESRRBL1; HIPPI; MHS4R2"
/replace="c"
/replace="g"
/db_xref="dbSNP:11556406"
variation 449
/gene="IFT57"
/gene_synonym="ESRRBL1; HIPPI; MHS4R2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:11556404"
exon 461..623
/gene="IFT57"
/gene_synonym="ESRRBL1; HIPPI; MHS4R2"
/inference="alignment:Splign:1.39.8"
STS 505..678
/gene="IFT57"
/gene_synonym="ESRRBL1; HIPPI; MHS4R2"
/standard_name="MARC_15991-15992:1016824593:1"
/db_xref="UniSTS:267926"
exon 624..742
/gene="IFT57"
/gene_synonym="ESRRBL1; HIPPI; MHS4R2"
/inference="alignment:Splign:1.39.8"
variation 692
/gene="IFT57"
/gene_synonym="ESRRBL1; HIPPI; MHS4R2"
/replace="c"
/replace="t"
/db_xref="dbSNP:34760675"
variation 716
/gene="IFT57"
/gene_synonym="ESRRBL1; HIPPI; MHS4R2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1135897"
exon 743..833
/gene="IFT57"
/gene_synonym="ESRRBL1; HIPPI; MHS4R2"
/inference="alignment:Splign:1.39.8"
exon 834..902
/gene="IFT57"
/gene_synonym="ESRRBL1; HIPPI; MHS4R2"
/inference="alignment:Splign:1.39.8"
exon 903..1025
/gene="IFT57"
/gene_synonym="ESRRBL1; HIPPI; MHS4R2"
/inference="alignment:Splign:1.39.8"
exon 1026..1097
/gene="IFT57"
/gene_synonym="ESRRBL1; HIPPI; MHS4R2"
/inference="alignment:Splign:1.39.8"
exon 1098..1229
/gene="IFT57"
/gene_synonym="ESRRBL1; HIPPI; MHS4R2"
/inference="alignment:Splign:1.39.8"
exon 1230..1292
/gene="IFT57"
/gene_synonym="ESRRBL1; HIPPI; MHS4R2"
/inference="alignment:Splign:1.39.8"
exon 1293..1359
/gene="IFT57"
/gene_synonym="ESRRBL1; HIPPI; MHS4R2"
/inference="alignment:Splign:1.39.8"
exon 1360..3203
/gene="IFT57"
/gene_synonym="ESRRBL1; HIPPI; MHS4R2"
/inference="alignment:Splign:1.39.8"
variation 1480
/gene="IFT57"
/gene_synonym="ESRRBL1; HIPPI; MHS4R2"
/replace="a"
/replace="g"
/db_xref="dbSNP:35713185"
STS 1548..1693
/gene="IFT57"
/gene_synonym="ESRRBL1; HIPPI; MHS4R2"
/standard_name="G31059"
/db_xref="UniSTS:40631"
variation 1724
/gene="IFT57"
/gene_synonym="ESRRBL1; HIPPI; MHS4R2"
/replace="a"
/replace="t"
/db_xref="dbSNP:1135937"
STS 1878..2123
/gene="IFT57"
/gene_synonym="ESRRBL1; HIPPI; MHS4R2"
/standard_name="WIAF-2547"
/db_xref="UniSTS:42146"
STS 1983..2112
/gene="IFT57"
/gene_synonym="ESRRBL1; HIPPI; MHS4R2"
/standard_name="SHGC-17270"
/db_xref="UniSTS:31950"
variation 2876
/gene="IFT57"
/gene_synonym="ESRRBL1; HIPPI; MHS4R2"
/replace="a"
/replace="g"
/db_xref="dbSNP:428321"
STS 2954..3156
/gene="IFT57"
/gene_synonym="ESRRBL1; HIPPI; MHS4R2"
/standard_name="D3S2909E"
/db_xref="UniSTS:11982"
STS 2977..3094
/gene="IFT57"
/gene_synonym="ESRRBL1; HIPPI; MHS4R2"
/standard_name="A004O21"
/db_xref="UniSTS:17737"
STS 3068..3193
/gene="IFT57"
/gene_synonym="ESRRBL1; HIPPI; MHS4R2"
/standard_name="WI-12443"
/db_xref="UniSTS:13924"
ORIGIN
atgaggggcggggctgcttcccgaccaccatttccacagaggcagggcaagaagagggccacaggtgacgtcattcaggaaagccgccctgattggagggaaggaggcggagtctagtttccctggtgacggattgtccggtggtcgcctggtaaccggtcgtggctgtactggcggcggcagggctggcggcttaggccgcagaggtctgtgggcctgagcccacgctggactctgtccgttctgcgatgactgctgctctggccgtcgtcacgacgtcgggtttggaagatggggtgcctaggtcccgtggcgaagggaccggggaagtggtcttggagcgggggcccggcgcggcctaccacatgttcgtggtgatggaggacttggtggagaagctgaagctgctccgctacgaggaggagttcctccggaagagcaacctgaaggccccgtccagacactattttgcactgcctaccaaccctggcgaacagttctacatgttttgtactcttgctgcttggttgattaataaagcgggacgtccctttgagcagcctcaagaatatgatgaccctaatgcaacaatatctaacatactatccgagcttcggtcatttggaagaactgcagattttcctccttcaaaattaaagtcaggttatggagaacatgtatgctatgttcttgattgcttcgctgaagaagcattgaaatatattggtttcacctggaaaaggccaatatacccagtagaagaattagaagaagaaagcgttgcagaagatgatgcagaattaacattaaataaagtggatgaagaatttgtggaagaagagacagataatgaagaaaactttattgatctcaacgttttaaaggcccagacatatcacttggatatgaacgagactgccaaacaagaagatattttggaatccacaacagatgctgcagaatggagcctagaagtggaacgtgtactaccgcaactgaaagtcacgattaggactgacaataaggattggagaatccatgttgaccaaatgcaccagcacagaagtggaattgaatctgctctaaaggagaccaagggatttttggacaaactccataatgaaattactaggactttggaaaagatcagcagccgagaaaagtacatcaacaatcagcttgagaatttggttcaagaatatcgtgcagctcaagcccagctgagtgaggcaaaggagcgataccagcagggaaatggaggagtgacggaaagaaccagactcctctctgaggttatggaagaattagaaaaggtaaaacaagaaatggaagaaaagggcagcagcatgactgatggtgctcctttggtgaagattaaacagagcttaacaaaactgaagcaagaaactgtagagatggacattagaattggcattgtggaacacacactactccaatcaaagctgaaggagaagtccaacatgactaggaacatgcatgccacagttattccagaaccagcaacaggcttttattaaaacatactggttttcatgtttctgattagttgggttttttatatcaaactatatttcatgttgcatagatttcaaaacataattttatgttcaatgggtatttttttacatatacatactcacatattatatcatggtgattatgatggttaaagcctttacactgaatgtaatgtttaataaagaaattacaaattctcactttctaagaagctttcactaatcattacctatgttaaagctcccacctggtggctcatttttcatagcattccttgtgtaagccaaggtatatgacctgcgttttctgcagatgctgctgctgtcacaacatgaactgctgacacagtcctttaccttgctccacctctgcagtgatcataagtgctttgtgcccagaggccactgaagatggtaggcaggattctttccaagaacccaaactgcctttgcctcagctttatggttacctaaaattgccactttttttaggttaaaaaaaacttcagtatcctcattaacatttgaagttggtttcttatgaatatttcgtggctaaaatgattttatagggaatctatcttctaggatctaagccactaaataaaaggataaatgaatgatgataagtcagtcactcatgtttgactctgttcttagaatgaagagaaggtgcatatgcatgtctcaatttctacctttttctgtggtatcggctatactagggaaccattttgtagaagaaggaacgatgacaggtcgcatgaagatcagcctctagtactgatgatctttacttatgcatcttcctgagcaactttctaggctaggatttctaaattggtgaaaaaagcagcattagagtgccagaattagcactggggaaaactggccaggggaacacaaagcaggagacagcctgcgttaattttttttttttaataattttcaaaagcagtggtagaaaatttgataagaatgctttatgtttaggacaacaaaaataattttaaaaagttattttttaccctaatacttttctccactgaatattattatttttttcttagctttttctttctagatgtattccccaacatgctcacatacacagatctttccctttccttactagacctctctttagtttaagataagtttagacaggagaaagtgtatgtaaactacctgaaaggatgacaatcaatacaatgacaaatatgccagtttatttaatttgtttaaaaaaaaaaaggcagaaaacccaccatgggaaaataagcattttttaaaatctgaagttgctcttttcctgtgtggtctttgggaggagtctaatacaaaaactgaaaacctttggtcctgggaatttattttcatggctgttgtcatggctgagtagttttttgatgaattcaatcaatgcagagaacgcttttagataaatcagaactctccttaaaatgcatttcaatcagaagcaaagtacacccattatttatgcagacatgtaaaaaatctaaaaattcttgcaatgagtagtataagccacctatttttacttccttctctgaaatattccagttaactcagcttgggttctgtgctcctcctctcttcctatagaacactgtgcataccttgaataaagagcttattatactaaaaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:55081 -> Molecular function: GO:0003677 [DNA binding] evidence: IEA
GeneID:55081 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:55081 -> Biological process: GO:0006351 [transcription, DNA-dependent] evidence: IEA
GeneID:55081 -> Biological process: GO:0006355 [regulation of transcription, DNA-dependent] evidence: IEA
GeneID:55081 -> Biological process: GO:0006915 [apoptotic process] evidence: IDA
GeneID:55081 -> Biological process: GO:0006919 [activation of cysteine-type endopeptidase activity involved in apoptotic process] evidence: IDA
GeneID:55081 -> Biological process: GO:0042981 [regulation of apoptotic process] evidence: IDA
GeneID:55081 -> Cellular component: GO:0005794 [Golgi apparatus] evidence: IEA
GeneID:55081 -> Cellular component: GO:0005932 [microtubule basal body] evidence: ISS
GeneID:55081 -> Cellular component: GO:0032391 [photoreceptor connecting cilium] evidence: IEA
GeneID:55081 -> Cellular component: GO:0044292 [dendrite terminus] evidence: IEA
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@meso_cacase at
DBCLS
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