LOCUS NP_001278826 110 aa linear PRI 25-DEC-2023
DEFINITION insulin preproprotein [Homo sapiens].
ACCESSION NP_001278826
VERSION NP_001278826.1
DBSOURCE REFSEQ: accession NM_001291897.2
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 (residues 1 to 110)
AUTHORS Lubenia PVN, Mendoza ER and Lao AR.
TITLE Comparative analysis of kinetic realizations of insulin signaling
JOURNAL J Theor Biol 577, 111672 (2024)
PUBMED 37984585
REMARK GeneRIF: Comparative analysis of kinetic realizations of insulin
signaling.
REFERENCE 2 (residues 1 to 110)
AUTHORS Reim PK, Engelbrechtsen L, Gybel-Brask D, Schnurr TM, Kelstrup L,
Hogdall EV and Hansen T.
TITLE The influence of insulin-related genetic variants on fetal growth,
fetal blood flow, and placental weight in a prospective pregnancy
cohort
JOURNAL Sci Rep 13 (1), 19638 (2023)
PUBMED 37949941
REMARK GeneRIF: The influence of insulin-related genetic variants on fetal
growth, fetal blood flow, and placental weight in a prospective
pregnancy cohort.
Publication Status: Online-Only
REFERENCE 3 (residues 1 to 110)
AUTHORS Kralovicova J and Vorechovsky I.
TITLE Allele-specific recognition of the 3' splice site of INS intron 1
JOURNAL Hum Genet 128 (4), 383-400 (2010)
PUBMED 20628762
REMARK GeneRIF: Findings reveal critical interactions underlying the
allele-dependent INS expression and INS-mediated risk of T1D
REFERENCE 4 (residues 1 to 110)
AUTHORS Stead JD, Hurles ME and Jeffreys AJ.
TITLE Global haplotype diversity in the human insulin gene region
JOURNAL Genome Res 13 (9), 2101-2111 (2003)
PUBMED 12952878
REFERENCE 5 (residues 1 to 110)
AUTHORS Naylor,R., Knight Johnson,A. and del Gaudio,D.
TITLE Maturity-Onset Diabetes of the Young Overview
JOURNAL (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH,
Gripp KW and Amemiya A (Eds.);
GENEREVIEWS(R);
(1993)
PUBMED 29792621
REFERENCE 6 (residues 1 to 110)
AUTHORS De Leon,D.D. and Stanley,C.A.
TITLE Permanent Neonatal Diabetes Mellitus
JOURNAL (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH,
Gripp KW and Amemiya A (Eds.);
GENEREVIEWS(R);
(1993)
PUBMED 20301620
REFERENCE 7 (residues 1 to 110)
AUTHORS Bell,G.I., Swain,W.F., Pictet,R., Cordell,B., Goodman,H.M. and
Rutter,W.J.
TITLE Nucleotide sequence of a cDNA clone encoding human preproinsulin
JOURNAL Nature 282 (5738), 525-527 (1979)
PUBMED 503234
REFERENCE 8 (residues 1 to 110)
AUTHORS Tager,H., Given,B., Baldwin,D., Mako,M., Markese,J., Rubenstein,A.,
Olefsky,J., Kobayashi,M., Kolterman,O. and Poucher,R.
TITLE A structurally abnormal insulin causing human diabetes
JOURNAL Nature 281 (5727), 122-125 (1979)
PUBMED 381941
REFERENCE 9 (residues 1 to 110)
AUTHORS Flynn,T.J., Deshmukh,D.S. and Pieringer,R.A.
TITLE Effects of altered thyroid function on galactosyl diacylglycerol
metabolism in myelinating rat brain
JOURNAL J Biol Chem 252 (16), 5864-5870 (1977)
PUBMED 195962
REFERENCE 10 (residues 1 to 110)
AUTHORS SANGER,F.
TITLE Chemistry of insulin; determination of the structure of insulin
opens the way to greater understanding of life processes
JOURNAL Science 129 (3359), 1340-1344 (1959)
PUBMED 13658959
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AC132217.15 and BM510347.1.
Summary: This gene encodes insulin, a peptide hormone that plays a
vital role in the regulation of carbohydrate and lipid metabolism.
After removal of the precursor signal peptide, proinsulin is
post-translationally cleaved into three peptides: the B chain and A
chain peptides, which are covalently linked via two disulfide bonds
to form insulin, and C-peptide. Binding of insulin to the insulin
receptor (INSR) stimulates glucose uptake. A multitude of mutant
alleles with phenotypic effects have been identified, including
insulin-dependent diabetes mellitus, permanent neonatal diabetes
diabetes mellitus, maturity-onset diabetes of the young type 10 and
hyperproinsulinemia. There is a read-through gene, INS-IGF2, which
overlaps with this gene at the 5' region and with the IGF2 gene at
the 3' region. [provided by RefSeq, May 2020].
Transcript Variant: This variant (4) differs in the 5' UTR,
compared to variant 1. All variants encode the same protein.
Sequence Note: This RefSeq record was created from transcript and
genomic sequence data to make the sequence consistent with the
reference genome assembly. The genomic coordinates used for the
transcript record were based on transcript alignments.
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 :: MT335691.1 [ECO:0000332]
RNAseq introns :: partial sample support SAMEA2146236,
SAMEA2151405 [ECO:0000350]
##Evidence-Data-END##
FEATURES Location/Qualifiers
source 1..110
/organism="Homo sapiens"
/db_xref="taxon:9606"
/chromosome="11"
/map="11p15.5"
Protein 1..110
/product="insulin preproprotein"
/note="proinsulin; preproinsulin"
/calculated_mol_wt=9395
sig_peptide 1..24
/inference="COORDINATES: ab initio prediction:SignalP:4.0"
/calculated_mol_wt=2604
proprotein 25..110
/product="proinsulin"
/calculated_mol_wt=9395
mat_peptide 25..54
/product="insulin B chain"
/calculated_mol_wt=3430
Region 26..110
/region_name="IlGF_insulin_like"
/note="IlGF_like family, insulin_like subgroup, specific
to vertebrates. Members include a number of peptides
including insulin and insulin-like growth factors I and
II, which play a variety of roles in controlling processes
such as metabolism, growth and...; cd04367"
/db_xref="CDD:239833"
Site order(32,35,37,108)
/site_type="active"
/note="putative receptor binding surface [active]"
/db_xref="CDD:239833"
mat_peptide 57..87
/product="C-peptide"
/calculated_mol_wt=3020
mat_peptide 90..110
/product="insulin A chain"
/calculated_mol_wt=2384
CDS 1..110
/gene="INS"
/gene_synonym="IDDM; IDDM1; IDDM2; ILPR; IRDN; MODY10;
PNDM4"
/coded_by="NM_001291897.2:120..452"
/db_xref="CCDS:CCDS7729.1"
/db_xref="GeneID:3630"
/db_xref="HGNC:HGNC:6081"
/db_xref="MIM:176730"
ORIGIN
1 malwmrllpl lallalwgpd paaafvnqhl cgshlvealy lvcgergffy tpktrreaed
61 lqvgqvelgg gpgagslqpl alegslqkrg iveqcctsic slyqlenycn
//
