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2024-04-20 17:49:40, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_000415 1992 bp mRNA linear PRI 07-JUL-2013
DEFINITION Homo sapiens islet amyloid polypeptide (IAPP), mRNA.
ACCESSION NM_000415
VERSION NM_000415.2 GI:223718173
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 1992)
AUTHORS Nath,A. and Rhoades,E.
TITLE A flash in the pan: dissecting dynamic amyloid intermediates using
fluorescence
JOURNAL FEBS Lett. 587 (8), 1096-1105 (2013)
PUBMED 23458258
REMARK GeneRIF: Studies indicate residue-specific information about
amyloid intermediate states of IAPP, alpha-synuclein, and tau were
characerized with Forster resonance energy transfer (FRET).
Review article
REFERENCE 2 (bases 1 to 1992)
AUTHORS Cao,P., Marek,P., Noor,H., Patsalo,V., Tu,L.H., Wang,H., Abedini,A.
and Raleigh,D.P.
TITLE Islet amyloid: from fundamental biophysics to mechanisms of
cytotoxicity
JOURNAL FEBS Lett. 587 (8), 1106-1118 (2013)
PUBMED 23380070
REMARK GeneRIF: Studies indicate that mutations in the putative helical
region alter the rate of amyloid formation.
Review article
REFERENCE 3 (bases 1 to 1992)
AUTHORS Abedini,A. and Schmidt,A.M.
TITLE Mechanisms of islet amyloidosis toxicity in type 2 diabetes
JOURNAL FEBS Lett. 587 (8), 1119-1127 (2013)
PUBMED 23337872
REMARK GeneRIF: Studies indicate that IAPP is one of the most
amyloidogenic sequences known.
Review article
REFERENCE 4 (bases 1 to 1992)
AUTHORS Tu,L.H. and Raleigh,D.P.
TITLE Role of aromatic interactions in amyloid formation by islet amyloid
polypeptide
JOURNAL Biochemistry 52 (2), 333-342 (2013)
PUBMED 23256729
REMARK GeneRIF: The ability of all single aromatic to leucine mutants, all
double aromatic to leucine mutants, and the triple leucine mutant
to form amyloid were examined.[IAPP]
REFERENCE 5 (bases 1 to 1992)
AUTHORS Sciacca,M.F., Milardi,D., Messina,G.M., Marletta,G., Brender,J.R.,
Ramamoorthy,A. and La Rosa,C.
TITLE Cations as switches of amyloid-mediated membrane disruption
mechanisms: calcium and IAPP
JOURNAL Biophys. J. 104 (1), 173-184 (2013)
PUBMED 23332070
REMARK GeneRIF: the presence of Ca(2+) ions inhibits membrane damage
occurring immediately after the interaction of freshly dissolved
hIAPP with the membrane.
REFERENCE 6 (bases 1 to 1992)
AUTHORS Hoppener,J.W., Oosterwijk,C., Visser-Vernooy,H.J., Lips,C.J. and
Jansz,H.S.
TITLE Characterization of the human islet amyloid polypeptide/amylin gene
transcripts: identification of a new polyadenylation site
JOURNAL Biochem. Biophys. Res. Commun. 189 (3), 1569-1577 (1992)
PUBMED 1282806
REFERENCE 7 (bases 1 to 1992)
AUTHORS Hubbard,J.A., Martin,S.R., Chaplin,L.C., Bose,C., Kelly,S.M. and
Price,N.C.
TITLE Solution structures of calcitonin-gene-related-peptide analogues of
calcitonin-gene-related peptide and amylin
JOURNAL Biochem. J. 275 (PT 3), 785-788 (1991)
PUBMED 2039456
REFERENCE 8 (bases 1 to 1992)
AUTHORS van Mansfeld,A.D., Mosselman,S., Hoppener,J.W., Zandberg,J., van
Teeffelen,H.A., Baas,P.D., Lips,C.J. and Jansz,H.S.
TITLE Islet amyloid polypeptide: structure and upstream sequences of the
IAPP gene in rat and man
JOURNAL Biochim. Biophys. Acta 1087 (2), 235-240 (1990)
PUBMED 2223885
REFERENCE 9 (bases 1 to 1992)
AUTHORS Christmanson,L., Rorsman,F., Stenman,G., Westermark,P. and
Betsholtz,C.
TITLE The human islet amyloid polypeptide (IAPP) gene. Organization,
chromosomal localization and functional identification of a
promoter region
JOURNAL FEBS Lett. 267 (1), 160-166 (1990)
PUBMED 2365085
REFERENCE 10 (bases 1 to 1992)
AUTHORS Butler,P.C., Chou,J., Carter,W.B., Wang,Y.N., Bu,B.H., Chang,D.,
Chang,J.K. and Rizza,R.A.
TITLE Effects of meal ingestion on plasma amylin concentration in NIDDM
and nondiabetic humans
JOURNAL Diabetes 39 (6), 752-756 (1990)
PUBMED 2189768
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from CK905016.1, J04422.1, X14905.1
and BQ548699.1.
On Feb 19, 2009 this sequence version replaced gi:4557654.
Summary: Islet, or insulinoma, amyloid polypeptide is commonly
found in pancreatic islets of patients suffering diabetes mellitus
type II, or harboring an insulinoma. While the association of
amylin with the development of type II diabetes has been known for
some time, a direct causative role for amylin has been harder to
establish. Studies suggest that amylin, like the related
beta-amyloid (Abeta) associated with Alzheimer's disease, can
induce apoptotic cell-death in particular cultured cells, an effect
that may be relevant to the development of type II diabetes.
[provided by RefSeq, Apr 2011].
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 :: AW582904.1, J04422.1 [ECO:0000332]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-16 CK905016.1 25-40
17-817 J04422.1 1-801
818-1069 X14905.1 454-705
1070-1478 J04422.1 1054-1462
1479-1992 BQ548699.1 1-514 c
FEATURES Location/Qualifiers
source 1..1992
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="12"
/map="12p12.1"
gene 1..1992
/gene="IAPP"
/gene_synonym="DAP; IAP"
/note="islet amyloid polypeptide"
/db_xref="GeneID:3375"
/db_xref="HGNC:5329"
/db_xref="HPRD:01005"
/db_xref="MIM:147940"
exon 1..137
/gene="IAPP"
/gene_synonym="DAP; IAP"
/inference="alignment:Splign:1.39.8"
variation 31
/gene="IAPP"
/gene_synonym="DAP; IAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:185132853"
variation 34
/gene="IAPP"
/gene_synonym="DAP; IAP"
/replace="a"
/replace="t"
/db_xref="dbSNP:63160660"
STS 50..534
/gene="IAPP"
/gene_synonym="DAP; IAP"
/db_xref="UniSTS:480711"
variation 72
/gene="IAPP"
/gene_synonym="DAP; IAP"
/replace="a"
/replace="c"
/db_xref="dbSNP:372824285"
STS 96..507
/gene="IAPP"
/gene_synonym="DAP; IAP"
/db_xref="UniSTS:485595"
variation 125
/gene="IAPP"
/gene_synonym="DAP; IAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:190919458"
exon 138..232
/gene="IAPP"
/gene_synonym="DAP; IAP"
/inference="alignment:Splign:1.39.8"
misc_feature 144..146
/gene="IAPP"
/gene_synonym="DAP; IAP"
/note="upstream in-frame stop codon"
variation 149
/gene="IAPP"
/gene_synonym="DAP; IAP"
/replace="a"
/replace="t"
/db_xref="dbSNP:112357636"
CDS 153..422
/gene="IAPP"
/gene_synonym="DAP; IAP"
/note="Islet amyloid polypeptide (diabetes-associated
peptide; amylin); insulinoma amyloid peptide"
/codon_start=1
/product="islet amyloid polypeptide precursor"
/protein_id="NP_000406.1"
/db_xref="GI:4557655"
/db_xref="CCDS:CCDS8688.1"
/db_xref="GeneID:3375"
/db_xref="HGNC:5329"
/db_xref="HPRD:01005"
/db_xref="MIM:147940"
/translation="
MGILKLQVFLIVLSVALNHLKATPIESHQVEKRKCNTATCATQRLANFLVHSSNNFGAILSSTNVGSNTYGKRNAVEVLKREPLNYLPL
"
misc_feature 153..371
/gene="IAPP"
/gene_synonym="DAP; IAP"
/note="Calcitonin / CGRP / IAPP family; Region:
Calc_CGRP_IAPP; pfam00214"
/db_xref="CDD:143971"
sig_peptide 153..218
/gene="IAPP"
/gene_synonym="DAP; IAP"
/inference="COORDINATES: ab initio prediction:SignalP:4.0"
misc_feature 246..371
/gene="IAPP"
/gene_synonym="DAP; IAP"
/note="calcitonin; Region: CALCITONIN; smart00113"
/db_xref="CDD:128423"
misc_feature 249..251
/gene="IAPP"
/gene_synonym="DAP; IAP"
/experiment="experimental evidence, no additional details
recorded"
/note="proteolytic cleavage site; modified site"
/db_xref="HPRD:01202"
mat_peptide 252..362
/gene="IAPP"
/gene_synonym="DAP; IAP"
/product="islet amyloid polypeptide"
misc_feature 360..362
/gene="IAPP"
/gene_synonym="DAP; IAP"
/experiment="experimental evidence, no additional details
recorded"
/note="Tyrosine amide; propagated from
UniProtKB/Swiss-Prot (P10997.1); amidation site"
misc_feature 369..371
/gene="IAPP"
/gene_synonym="DAP; IAP"
/experiment="experimental evidence, no additional details
recorded"
/note="proteolytic cleavage site; modified site"
/db_xref="HPRD:01201"
variation 161
/gene="IAPP"
/gene_synonym="DAP; IAP"
/replace="c"
/replace="t"
/db_xref="dbSNP:145555931"
variation 164
/gene="IAPP"
/gene_synonym="DAP; IAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:202231303"
variation 169
/gene="IAPP"
/gene_synonym="DAP; IAP"
/replace="a"
/replace="t"
/db_xref="dbSNP:374152437"
variation 172
/gene="IAPP"
/gene_synonym="DAP; IAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:200933325"
variation 189
/gene="IAPP"
/gene_synonym="DAP; IAP"
/replace="c"
/replace="t"
/db_xref="dbSNP:373616376"
variation 218
/gene="IAPP"
/gene_synonym="DAP; IAP"
/replace="c"
/replace="t"
/db_xref="dbSNP:62871062"
exon 233..1976
/gene="IAPP"
/gene_synonym="DAP; IAP"
/inference="alignment:Splign:1.39.8"
variation 250
/gene="IAPP"
/gene_synonym="DAP; IAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:200996235"
variation 258
/gene="IAPP"
/gene_synonym="DAP; IAP"
/replace="a"
/replace="t"
/db_xref="dbSNP:142526620"
variation 261
/gene="IAPP"
/gene_synonym="DAP; IAP"
/replace="a"
/replace="c"
/db_xref="dbSNP:78822118"
variation 278
/gene="IAPP"
/gene_synonym="DAP; IAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:141057868"
variation 293
/gene="IAPP"
/gene_synonym="DAP; IAP"
/replace="c"
/replace="t"
/db_xref="dbSNP:138539884"
variation 303
/gene="IAPP"
/gene_synonym="DAP; IAP"
/replace="c"
/replace="g"
/db_xref="dbSNP:369714240"
variation 309
/gene="IAPP"
/gene_synonym="DAP; IAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:1800203"
variation 313
/gene="IAPP"
/gene_synonym="DAP; IAP"
/replace="a"
/replace="t"
/db_xref="dbSNP:149268012"
variation 320
/gene="IAPP"
/gene_synonym="DAP; IAP"
/replace="c"
/replace="t"
/db_xref="dbSNP:144465370"
variation 344
/gene="IAPP"
/gene_synonym="DAP; IAP"
/replace="c"
/replace="t"
/db_xref="dbSNP:142695483"
variation 345
/gene="IAPP"
/gene_synonym="DAP; IAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:143322681"
variation 348
/gene="IAPP"
/gene_synonym="DAP; IAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:200376097"
variation 353
/gene="IAPP"
/gene_synonym="DAP; IAP"
/replace="a"
/replace="c"
/db_xref="dbSNP:372245942"
variation 375
/gene="IAPP"
/gene_synonym="DAP; IAP"
/replace="c"
/replace="g"
/db_xref="dbSNP:11558904"
variation 406
/gene="IAPP"
/gene_synonym="DAP; IAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:147525401"
variation 471
/gene="IAPP"
/gene_synonym="DAP; IAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:373545779"
STS 479..695
/gene="IAPP"
/gene_synonym="DAP; IAP"
/standard_name="SGC35306"
/db_xref="UniSTS:60443"
variation 491
/gene="IAPP"
/gene_synonym="DAP; IAP"
/replace="c"
/replace="t"
/db_xref="dbSNP:376943595"
variation 499
/gene="IAPP"
/gene_synonym="DAP; IAP"
/replace="c"
/replace="t"
/db_xref="dbSNP:5484"
STS 732..1534
/gene="IAPP"
/gene_synonym="DAP; IAP"
/standard_name="IAPP_3999"
/db_xref="UniSTS:462261"
variation 818
/gene="IAPP"
/gene_synonym="DAP; IAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:1134382"
variation 823
/gene="IAPP"
/gene_synonym="DAP; IAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:1134385"
variation 831
/gene="IAPP"
/gene_synonym="DAP; IAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:63303360"
STS 864..991
/gene="IAPP"
/gene_synonym="DAP; IAP"
/standard_name="D15S1477"
/db_xref="UniSTS:474482"
STS 878..996
/gene="IAPP"
/gene_synonym="DAP; IAP"
/standard_name="D11S2560"
/db_xref="UniSTS:37928"
variation 896
/gene="IAPP"
/gene_synonym="DAP; IAP"
/replace="c"
/replace="g"
/db_xref="dbSNP:192460276"
STS 897..985
/gene="IAPP"
/gene_synonym="DAP; IAP"
/standard_name="D8S2279"
/db_xref="UniSTS:473907"
variation 909
/gene="IAPP"
/gene_synonym="DAP; IAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:1134399"
variation 910
/gene="IAPP"
/gene_synonym="DAP; IAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:1134401"
variation 917
/gene="IAPP"
/gene_synonym="DAP; IAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:1134403"
variation 918
/gene="IAPP"
/gene_synonym="DAP; IAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:1134407"
variation 932
/gene="IAPP"
/gene_synonym="DAP; IAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:41275210"
variation 990
/gene="IAPP"
/gene_synonym="DAP; IAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:1134432"
variation 1051
/gene="IAPP"
/gene_synonym="DAP; IAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:5485"
variation 1065
/gene="IAPP"
/gene_synonym="DAP; IAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:184536800"
variation 1151
/gene="IAPP"
/gene_synonym="DAP; IAP"
/replace="a"
/replace="c"
/db_xref="dbSNP:189065028"
variation 1162
/gene="IAPP"
/gene_synonym="DAP; IAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:5486"
variation 1200
/gene="IAPP"
/gene_synonym="DAP; IAP"
/replace="g"
/replace="t"
/db_xref="dbSNP:1056007"
variation 1224
/gene="IAPP"
/gene_synonym="DAP; IAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:139517462"
STS 1249..1428
/gene="IAPP"
/gene_synonym="DAP; IAP"
/standard_name="SHGC-57392"
/db_xref="UniSTS:76018"
variation 1253
/gene="IAPP"
/gene_synonym="DAP; IAP"
/replace="c"
/replace="t"
/db_xref="dbSNP:5487"
variation 1279
/gene="IAPP"
/gene_synonym="DAP; IAP"
/replace="a"
/replace="t"
/db_xref="dbSNP:5488"
variation 1379
/gene="IAPP"
/gene_synonym="DAP; IAP"
/replace="c"
/replace="t"
/db_xref="dbSNP:181934880"
variation 1387
/gene="IAPP"
/gene_synonym="DAP; IAP"
/replace="a"
/replace="c"
/db_xref="dbSNP:5489"
variation 1416
/gene="IAPP"
/gene_synonym="DAP; IAP"
/replace="g"
/replace="t"
/db_xref="dbSNP:377514165"
variation 1446
/gene="IAPP"
/gene_synonym="DAP; IAP"
/replace="c"
/replace="t"
/db_xref="dbSNP:149908803"
variation 1521
/gene="IAPP"
/gene_synonym="DAP; IAP"
/replace="g"
/replace="t"
/db_xref="dbSNP:3213208"
variation 1566
/gene="IAPP"
/gene_synonym="DAP; IAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:367680653"
variation 1609
/gene="IAPP"
/gene_synonym="DAP; IAP"
/replace="c"
/replace="g"
/db_xref="dbSNP:12826421"
variation 1723
/gene="IAPP"
/gene_synonym="DAP; IAP"
/replace="c"
/replace="t"
/db_xref="dbSNP:144984914"
variation 1854
/gene="IAPP"
/gene_synonym="DAP; IAP"
/replace="c"
/replace="g"
/db_xref="dbSNP:186311130"
variation 1864
/gene="IAPP"
/gene_synonym="DAP; IAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:189239231"
polyA_signal 1949..1954
/gene="IAPP"
/gene_synonym="DAP; IAP"
polyA_site 1976
/gene="IAPP"
/gene_synonym="DAP; IAP"
ORIGIN
gggtatataagagctggattactagttagcaaatgagggggtaaatattccagtggatacaagcttggactcttttcttgaagctttctttctatcagaagcatttgctgatattgctgacattgaaacattaaaagaaaatttgagaagcaatgggcatcctgaagctgcaagtatttctcattgtgctctctgttgcattgaaccatctgaaagctacacccattgaaagtcatcaggtggaaaagcggaaatgcaacactgccacatgtgcaacgcagcgcctggcaaattttttagttcattccagcaacaactttggtgccattctctcatctaccaacgtgggatccaatacatatggcaagaggaatgcagtagaggttttaaagagagagccactgaattacttgcccctttagaggacaatgtaactctatagttattgttttatgttctagtgatttcctgtataatttaacagtgcccttttcatctccagtgtgaatatatggtctgtgtgtctgatgtttgttgctaggacatataccttctcaaaagattgttttatatgtagtactaactaaggtcccataataaaaagatagtatcttttaaaatgaaatgtttttgctatagatttgtattttaaaacataagaacgtcattttgggacctatatctcagtggcacaggtttaagaacgaaggagaaaaaggtagtttgaaccttggtaaattgtaaacagctaataatgaagttattcttgacatgagaaaatcagtaattggaccaggcgcggtggctcttgcctgtaatcccagcactttgggaggccgaggcaggcagatcacaaggtcaggagttcgagaccagcctgaccaacatggtgaaaccctgtctctactaaaaatacaaaaattagccgggggtggtgacatgtgcctgtaatcccagctactcaggaggctaaggcaggagaatcgcttaaacccaggaggcggaggttgcagtgagccgagattgcaccactgcactccagcctgggtggcagagtgagactcgtctcaaaaaaaagaaagaaaattagtaattgtaagtacccctgataagcaaattagtaattgtcaatacccctgttaagcaattcctttttgcagtatatttctgaaatgacagaatgctgttttaaaaacaaagaaataaaatcctgctcctgactcggtcaaaatattttttaaagtctattgtttgttgtgcttgctggtactaagaggctatttaaaagtataaaactgctttgtatccatgagggtttcattgtgtgttagcagcagtgagcttctattaaatgtatatgtcatttattttgtttaagtggctttcagcaaacctcagtcatattcttatgcagggtattgcgaaacaacttgtgttctattaatcgtgtcttcaattaaaagaccacagacttctggaaactctttgctgtataagaattatttcttttgtttaacaaattagacatttctggcagaggttatgtatatgatacactttttttgatagcagctgcaatgttggacagaagatgaaatgctttgctttgagtcagattcttatgaatatctgcttttccctgactttgagttaggtagctttggaagtagcattaattcagataaactgccatcatgctgcgttatgccatttctaaagacactcaacttgtacttttaaaaaaatagaaaaaataagcatttcaatctaagtggaaatttgactcattgacttacatttctaagttaaaatttccctttatgaagtgtgccttaggttaccaaattgtagaggctttcgttggtggtggtaagtggtagcggtagtgagtgtatagaggcagggaaatatatttataataaattctatgtcatgaattacatattgaaataaataggtgaatatacaaatttataaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:3375 -> Molecular function: GO:0005102 [receptor binding] evidence: TAS
GeneID:3375 -> Molecular function: GO:0005179 [hormone activity] evidence: IEA
GeneID:3375 -> Biological process: GO:0006915 [apoptotic process] evidence: TAS
GeneID:3375 -> Biological process: GO:0007165 [signal transduction] evidence: TAS
GeneID:3375 -> Biological process: GO:0007267 [cell-cell signaling] evidence: TAS
GeneID:3375 -> Biological process: GO:0019233 [sensory perception of pain] evidence: IEA
GeneID:3375 -> Biological process: GO:0031018 [endocrine pancreas development] evidence: TAS
GeneID:3375 -> Biological process: GO:0045596 [negative regulation of cell differentiation] evidence: IEA
GeneID:3375 -> Biological process: GO:0045779 [negative regulation of bone resorption] evidence: IEA
GeneID:3375 -> Cellular component: GO:0005576 [extracellular region] evidence: TAS
GeneID:3375 -> Cellular component: GO:0005615 [extracellular space] evidence: IEA
GeneID:3375 -> Cellular component: GO:0043025 [neuronal cell body] evidence: IEA
by
@meso_cacase at
DBCLS
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