Gene: [03q28/SST] somatostatin (preprosomatostatin); growth hormone release-inhibiting hormone (somatostatin);
FUN |
Somatostatin is a polyfunctional inhibitor of secretion of other peptide hormones (ACTH, TSH, FSH, growth hormone, insulin, glucagon, prolactin, renin, gastrin, calcitonin, etc.). Its effect is expressed in inhibition of many metabolic and physiological processes, e.g., secretion of a number of gastrointestinal and pancreatic enzymes; ion (in particular, calcium) absorbtion; the transport of low-molecular substances, such as glucose, amino acids, and triglycerides; and motor activity of smooth muscle sphincters (Thus, somatostatin inhibits the evacuation of stomach, bladder, and bile cyst). Somatostatin also inhibits spontaneous neuronal activity, acting as an opiate receptor agonist." |
GEN |
[1] Shen-1984 reported data on the functional anatomy of the
gene: the gene length is about 1.5 kb, the gene has two exons (138 and
210 bp, or 46 and 70 amino acids) and one intron (877 bp), which is
located in the propeptide part of the coding region. Both flanks are
short (the 5'-region contains 123 bp, including the main part of the
promoter, gTTTAAAAc; the following 21 bp between it and the capping
site; and further nontranslated 95 bp before the initiating codon,
ATG; the 3'-region contains 150 bp, including the stop codon). The
processed transcript contains 593 nucleotide residues (95 bp of 5'-utl
+ 348 bp of coding region + 150 bp of 3'-utl); with 100-150 bp of the
poly(A) tail this gives the length of the mature mRNA of about 750 bp.
[2] Somatostatin is primarily synthesized as a prepropeptide, 116 amino acid residues in length (MM = 12.727 kD). Of these, the first 24 N-terminal amino acids form the leader or signal prepeptide; the following 64 amino acids, the propeptide; the C-terminal peptide of 28 amino acids exhibits the hormonal effects that are specific for somatostatin II; and a 14-amino acid peptide within the latter peptide is somatostatin I itself. Its function was first revealed in: Brazeau-1973. It is assumed that the function of the 88-amino acid prepropeptide region consists in the transport through the membranes of endoplasmic reticulum (this requires usually 80 amino acids) and the modulation of posttranslational processing of somatostatins I and II in Golgi complex. Somatostatin 28/14 (II/I) is an oligopeptide, 28 amino acid residues in length, with cyclic tetradecapeptide C-terminal region: SST(28)-II: NH-Ser-Ala-Asn-Ser-Asn-Pro-Ala-Met-Ala-Pro-Arg-Lys- SST(14)-I: -Ala-Gly-Cys-Lys-Asn-Phe-Phe-Trp-Lys-Thr-Ser-Cys-OH і і АДДДДДДДДДДДДДДДДДДДДДДДДДДДДДДДДДДДЩ" |
POL |
[1] Gene-specific DNA probe pgHS7-2.7 (a 2.667 kb fragment) has been
cloned at EcoRI/HindIII sites in the plasmid pBR322.
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RFLP systems:
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RFLP name (Reference; Probe [number]):
Alleles in kb/(Popul Freq) Const Bands (kb)
----------------------------------------------------------------------
[1] EcoRI A-RFLP (Naylor-1983; Zabel-1983; Lucarelli-1988; Probe [1]): A1= 12.0/(0.91); A2= 6.4/(0.09); CBs= no; [2] BamHI B-RFLP (Naylor-1983; Zabel-1983; Lucarelli-1988; Probe [1]): B1= 14.5/(0.93); B2= duple 7.8/6.7 (0.07); CBs= no; [3] PCRamp C-RFLP (Weber-1989a/b; Probe [2]): C1= 0.175/(0.02); C2= 0.173/(0.06); C3= 0.171/(0.13); C4= 0.169/(0.70); C5= 0.167/(0.01); C6= 0.163/(0.08); [4] PCRamp ?-RFLP (Lucarelli-1988; Probe [?]): 4 haplotypes (with frequencies 0.002-0.83) detected by AC-dinucleotide repeat" |
MOP |
Somatostatin belongs to the group of neuroendocrinal peptides. |
TIS |
Somatostatin is secreted by the neuroendocrinal cells of the central nervous system and many other organs as a hormone." |
REL |
See GEM:14q13/SSTR1. |
REF |
PEP,SEQ,EVO "Argos &: JBC, 258, N14, 8788-8793, 1983 PEP,SEQ,EVO "Benoit &: Brain Res, 311, 23-29, 1984 IDN,FUN "Brazeau &: Science, 179, 77-79, 1973 REV,FUN,STR "Fenoglio, King: Hum Pathol, 14, N6, 475-479, 1983 POL,PRO "Lucarelli P &: Hum Genet, 78, 291-292, 1988 LOC,POL,LIN "Naylor SL &: PNAS, 80, 2686-2689, 1983 POL,POP "Palamarino R &: Hum Hered, 38, N3, 151-155, 1988 CLO,GEN,MOP "Shen L-P, Rutter: Science, 224, (13 Apr), 168-171, 1984 CLO,SEQ,EXP "Shen L-P &: PNAS, 79, (Aug), 4575-4579, 1982 POL,PRO "Weber JL &: AJHG, 44, 388-396, 1989a POL,PRO "Weber JL &: CCG, 51, (HGM10), 1103, 1989b LOC,POL,LIN "Zabel BU &: PNAS, 80, 6932-6936, 1983 |
KEY |
horm, neu |
CLA |
coding, basic |
LOC |
03 q28 |
MIM |
MIM: 182450 |
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