LOCUS NP_000609 153 aa linear PRI 12-OCT-2008
DEFINITION insulin-like growth factor 1 isoform 4 preproprotein [Homo
sapiens].
ACCESSION NP_000609
VERSION NP_000609.1 GI:11024682
DBSOURCE REFSEQ: accession NM_000618.3
KEYWORDS .
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (residues 1 to 153)
AUTHORS Fehringer,G., Ozcelik,H., Knight,J.A., Paterson,A.D. and Boyd,N.F.
TITLE Association between IGF1 CA microsatellites and mammographic
density, anthropometric measures, and circulating IGF-I levels in
premenopausal Caucasian women
JOURNAL Breast Cancer Res. Treat. (2008) In press
PUBMED 18785005
REMARK GeneRIF: Observational study of gene-disease association and
gene-environment interaction. (HuGE Navigator)
Publication Status: Available-Online prior to print
REFERENCE 2 (residues 1 to 153)
AUTHORS Creighton,C.J., Casa,A., Lazard,Z., Huang,S., Tsimelzon,A.,
Hilsenbeck,S.G., Osborne,C.K. and Lee,A.V.
TITLE Insulin-like growth factor-I activates gene transcription programs
strongly associated with poor breast cancer prognosis
JOURNAL J. Clin. Oncol. 26 (25), 4078-4085 (2008)
PUBMED 18757322
REMARK GeneRIF: Insulin-like growth factor-I activates gene transcription
programs strongly associated with poor breast cancer prognosis
REFERENCE 3 (residues 1 to 153)
AUTHORS Xie,L., Gong,Y.Y., Lian,S.G., Yang,J., Yang,Y., Gao,S.J., Xu,L.Y.
and Zhang,Y.P.
TITLE Absence of association between SNPs in the promoter region of the
insulin-like growth factor 1 (IGF-1) gene and longevity in the Han
Chinese population
JOURNAL Exp. Gerontol. (2008) In press
PUBMED 18761080
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
Publication Status: Available-Online prior to print
REFERENCE 4 (residues 1 to 153)
AUTHORS Velez,D.R., Fortunato,S.J., Thorsen,P., Lombardi,S.J.,
Williams,S.M. and Menon,R.
TITLE Preterm birth in Caucasians is associated with coagulation and
inflammation pathway gene variants
JOURNAL PLoS ONE 3 (9), E3283 (2008)
PUBMED 18818748
REMARK GeneRIF: Observational study of gene-disease association and
gene-gene interaction. (HuGE Navigator)
Publication Status: Online-Only
REFERENCE 5 (residues 1 to 153)
AUTHORS Tang,N.L., Yeung,H.Y., Lee,K.M., Qiu,X., Qiu,Y. and Cheng,J.C.
TITLE A genetic model for studying the etiopathogenesis of late-onset
idiopathic scoliosis
JOURNAL Stud Health Technol Inform 140, 330 (2008)
PUBMED 18810053
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 6 (sites)
AUTHORS Authier,F., Kouach,M. and Briand,G.
TITLE Endosomal proteolysis of insulin-like growth factor-I at its
C-terminal D-domain by cathepsin B
JOURNAL FEBS Lett. 579 (20), 4309-4316 (2005)
PUBMED 16051222
REFERENCE 7 (residues 1 to 153)
AUTHORS Sato,A., Nishimura,S., Ohkubo,T., Kyogoku,Y., Koyama,S.,
Kobayashi,M., Yasuda,T. and Kobayashi,Y.
TITLE 1H-NMR assignment and secondary structure of human insulin-like
growth factor-I (IGF-I) in solution
JOURNAL J. Biochem. 111 (4), 529-536 (1992)
PUBMED 1319992
REFERENCE 8 (residues 1 to 153)
AUTHORS Ding,L., Becker,A.B., Suzuki,A. and Roth,R.A.
TITLE Comparison of the enzymatic and biochemical properties of human
insulin-degrading enzyme and Escherichia coli protease III
JOURNAL J. Biol. Chem. 267 (4), 2414-2420 (1992)
PUBMED 1733942
REFERENCE 9 (residues 1 to 153)
AUTHORS Antoniades,H.N., Galanopoulos,T., Neville-Golden,J. and Maxwell,M.
TITLE Expression of insulin-like growth factors I and II and their
receptor mRNAs in primary human astrocytomas and meningiomas; in
vivo studies using in situ hybridization and immunocytochemistry
JOURNAL Int. J. Cancer 50 (2), 215-222 (1992)
PUBMED 1370435
REFERENCE 10 (residues 1 to 153)
AUTHORS Sandberg-Nordqvist,A.C., Stahlbom,P.A., Lake,M. and Sara,V.R.
TITLE Characterization of two cDNAs encoding insulin-like growth factor 1
(IGF-1) in the human fetal brain
JOURNAL Brain Res. Mol. Brain Res. 12 (1-3), 275-277 (1992)
PUBMED 1372070
REFERENCE 11 (sites)
AUTHORS Raschdorf,F., Dahinden,R., Maerki,W., Richter,W.J. and
Merryweather,J.P.
TITLE Location of disulphide bonds in human insulin-like growth factors
(IGFs) synthesized by recombinant DNA technology
JOURNAL Biomed. Environ. Mass Spectrom. 16 (1-12), 3-8 (1988)
PUBMED 3242681
REFERENCE 12 (residues 1 to 153)
AUTHORS Rinderknecht,E. and Humbel,R.E.
TITLE The amino acid sequence of human insulin-like growth factor I and
its structural homology with proinsulin
JOURNAL J. Biol. Chem. 253 (8), 2769-2776 (1978)
PUBMED 632300
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
AC010202.6 and AB209184.1.
Summary: The somatomedins, or insulin-like growth factors (IGFs),
comprise a family of peptides that play important roles in
mammalian growth and development. IGF1 mediates many of the
growth-promoting effects of growth hormone (GH; MIM 139250). Early
studies showed that growth hormone did not directly stimulate the
incorporation of sulfate into cartilage, but rather acted through a
serum factor, termed 'sulfation factor,' which later became known
as 'somatomedin' (Daughaday et al., 1972 [PubMed 4550398]). Three
main somatomedins have been characterized: somatomedin C (IGF1),
somatomedin A (IGF2; MIM 147470), and somatomedin B (MIM 193190)
(Rotwein, 1986 [PubMed 3455760]; Rosenfeld, 2003 [PubMed
14657423]).[supplied by OMIM].
Transcript Variant: This variant (4) lacks an alternate
frame-shifting exon in the 3' coding region, compared to variant 1,
resulting in a protein (isoform 4) with a novel C-terminus,
compared to isoform 1. This isoform is also known as IA.
Sequence Note: This RefSeq was created from transcript and genomic
sequence because transcript sequence consistent with the reference
assembly was not available for all regions of the RefSeq
transcript. The extent of this transcript is supported by
transcript alignments.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the
Entrez Gene record to access additional publications.
FEATURES Location/Qualifiers
source 1..153
/organism="Homo sapiens"
/db_xref="taxon:9606"
/chromosome="12"
/map="12q22-q23"
Protein 1..153
/product="insulin-like growth factor 1 isoform 4
preproprotein"
/note="somatomedin C"
sig_peptide 1..48
/calculated_mol_wt=5353
proprotein 49..153
/product="insulin-like growth factor 1 isoform 4
proprotein"
/calculated_mol_wt=11690
mat_peptide 49..118
/product="insulin-like growth factor 1 isoform 4"
/calculated_mol_wt=7655
Bond bond(54,96)
/bond_type="disulfide"
/experiment="experimental evidence, no additional details
recorded"
/note="disulfide bridge bond"
/citation=[11]
Bond bond(66,109)
/bond_type="disulfide"
/experiment="experimental evidence, no additional details
recorded"
/note="disulfide bridge bond"
/citation=[11]
Bond bond(95,100)
/bond_type="disulfide"
/experiment="experimental evidence, no additional details
recorded"
/note="disulfide bridge bond"
/citation=[11]
Site 113
/site_type="modified"
/experiment="experimental evidence, no additional details
recorded"
/note="proteolytic cleavage site"
/citation=[6]
/db_xref="HPRD:00287"
Site 114
/site_type="modified"
/experiment="experimental evidence, no additional details
recorded"
/note="proteolytic cleavage site"
/citation=[6]
/db_xref="HPRD:00287"
Site 115
/site_type="modified"
/experiment="experimental evidence, no additional details
recorded"
/note="proteolytic cleavage site"
/citation=[6]
/db_xref="HPRD:00287"
Site 116
/site_type="modified"
/experiment="experimental evidence, no additional details
recorded"
/note="proteolytic cleavage site"
/citation=[6]
/db_xref="HPRD:00287"
CDS 1..153
/gene="IGF1"
/gene_synonym="IGFI"
/coded_by="NM_000618.3:220..681"
/note="isoform 4 preproprotein is encoded by transcript
variant 4"
/db_xref="CCDS:CCDS9091.1"
/db_xref="GeneID:3479"
/db_xref="HGNC:5464"
/db_xref="HPRD:00936"
/db_xref="MIM:147440"
ORIGIN
1 mgkisslptq lfkccfcdfl kvkmhtmsss hlfylalcll tftssatagp etlcgaelvd
61 alqfvcgdrg fyfnkptgyg sssrrapqtg ivdeccfrsc dlrrlemyca plkpaksars
121 vraqrhtdmp ktqkevhlkn asrgsagnkn yrm
//