P01286
PR
Gene name |
GHRH (GHRF) |
Protein name |
Somatoliberin |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2691 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
4 structures for P01286
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 5BQM | X-ray | 310 A | B/D | 34-73 | PDB |
| 7CZ5 | EM | 260 A | P | 32-75 | PDB |
| 7V9M | EM | 329 A | P | 32-75 | PDB |
| AF-P01286-F1 | Predicted | AlphaFoldDB |
87 variants for P01286
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1173835258 CA408927235 |
3 | L>F | No |
ClinGen gnomAD |
|
|
rs773662707 CA408927216 |
4 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA9847532 rs773662707 |
4 | W>L | No |
ClinGen ExAC gnomAD |
|
|
CA314376797 rs978431658 |
5 | V>A | No |
ClinGen Ensembl |
|
|
rs769882784 CA9847531 |
5 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1249330712 CA408927164 |
6 | F>L | No |
ClinGen TOPMed |
|
|
rs762180006 CA9847528 |
11 | L>I | Variant assessed as Somatic; 4.787e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA408927065 rs1600873564 |
12 | T>P | No |
ClinGen Ensembl |
|
|
CA408926947 rs747112650 |
16 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA408926918 rs1211791568 |
18 | H>R | No |
ClinGen gnomAD |
|
|
rs1254550906 CA408926827 |
23 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1376950547 CA408926839 |
23 | P>T | No |
ClinGen TOPMed |
|
|
CA9847524 rs368337505 |
24 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772089954 CA9847523 |
26 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs989362238 CA314376737 |
27 | L>F | No |
ClinGen Ensembl |
|
|
rs981258896 CA314376286 |
29 | M>T | No |
ClinGen TOPMed |
|
|
CA408926662 rs778720800 |
30 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9847503 rs778720800 |
30 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408926663 COSM1026505 rs1268560247 |
30 | R>W | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA9847502 COSM3840929 rs770654030 |
31 | R>Q | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
VAR_049185 rs17787698 CA314376271 |
32 | Y>C | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA408926644 rs1600873204 |
32 | Y>D | No |
ClinGen Ensembl |
|
|
CA9847500 rs777362452 |
33 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA314376256 rs28932185 |
36 | I>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9847498 rs28932185 |
36 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA314376257 rs28932185 |
36 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9847496 rs758823653 |
40 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750872486 CA9847495 |
41 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs990835110 CA314376227 |
42 | R>Q | No |
ClinGen TOPMed |
|
|
CA9847494 rs765871814 |
42 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA408926465 COSM70893 rs1600873150 |
44 | V>G | ovary [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA408926475 rs1283102203 |
44 | V>L | No |
ClinGen gnomAD |
|
|
rs1337155174 CA408926443 |
46 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs371047125 CA9847491 |
48 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9847488 rs566092278 |
50 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9847487 rs759549389 |
51 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA9847486 rs368475481 COSM3785389 |
51 | R>H | pancreas [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA408926333 rs1302355642 |
55 | Q>P | No |
ClinGen TOPMed |
|
|
rs749049523 CA9847484 |
57 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA314376121 rs772701000 CA408926307 |
58 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA314376119 rs1015216356 |
59 | S>N | No |
ClinGen Ensembl |
|
|
CA408926297 rs1288719280 |
60 | R>K | No |
ClinGen TOPMed |
|
|
CA408926290 rs1439426952 |
61 | Q>* | No |
ClinGen gnomAD |
|
|
rs769420800 CA9847482 |
62 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1216036464 CA408926274 |
63 | G>E | No |
ClinGen gnomAD |
|
|
CA9847470 rs767653599 |
64 | E>D | No |
ClinGen ExAC |
|
|
COSM311441 COSM1533400 CA9847468 rs759618578 |
66 | N>K | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1432832092 CA408926218 |
68 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs766281633 CA9847466 |
68 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs377413593 CA9847465 |
69 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9847464 rs772982296 |
69 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs267605922 CA314374511 |
70 | G>E | No |
ClinGen Ensembl |
|
|
CA408926206 rs1178560057 |
71 | A>E | No |
ClinGen gnomAD |
|
|
rs1376273289 CA408926209 |
71 | A>P | No |
ClinGen gnomAD |
|
|
CA408926198 rs1413088763 |
72 | R>S | No |
ClinGen gnomAD |
|
|
rs141746104 CA9847462 |
73 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs201379161 CA9847460 |
74 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9847461 rs571463652 |
74 | R>W | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs4988492 VAR_024328 CA9847459 |
75 | L>F | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA9847458 rs779771848 |
76 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1030583384 CA314374470 |
77 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs201960344 CA9847457 |
77 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408926163 rs1207638279 |
79 | V>A | No |
ClinGen gnomAD |
|
|
CA408926162 rs1207638279 |
79 | V>G | No |
ClinGen gnomAD |
|
|
CA408926155 rs1172772693 |
80 | D>V | No |
ClinGen TOPMed |
|
|
rs1273459002 CA408926141 |
82 | M>K | No |
ClinGen gnomAD |
|
|
CA408926143 rs1441594178 |
82 | M>V | No |
ClinGen gnomAD |
|
|
rs1315983892 CA408926131 |
83 | W>* | No |
ClinGen gnomAD |
|
|
rs1216187726 CA408926135 |
83 | W>R | No |
ClinGen gnomAD |
|
|
rs749745515 CA9847456 |
84 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA408926125 rs1373472880 |
84 | A>P | No |
ClinGen TOPMed |
|
|
CA9847455 rs778439630 |
85 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA9847454 rs202142637 |
86 | Q>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408926111 rs1446122904 |
86 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1358892326 CA408926098 |
88 | Q>E | No |
ClinGen gnomAD |
|
|
rs1358892326 CA408926099 |
88 | Q>K | No |
ClinGen gnomAD |
|
|
CA408926087 rs1329980981 |
89 | M>K | No |
ClinGen gnomAD |
|
|
CA9847453 rs753033187 |
90 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs767746758 CA9847452 |
93 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1415371936 CA408926038 |
96 | V>E | No |
ClinGen gnomAD |
|
|
CA408926039 rs1600871130 |
96 | V>M | No |
ClinGen Ensembl |
|
|
rs368790886 CA9847449 |
97 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408925993 rs750300595 |
103 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA9847447 rs750300595 |
103 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA408925715 rs1219453931 |
107 | Q>* | No |
ClinGen gnomAD |
|
|
rs1000143736 CA314371870 |
108 | G>A | No |
ClinGen TOPMed |
|
|
CA408925701 rs1321249365 |
109 | G>R | No |
ClinGen gnomAD |
No associated diseases with P01286
1 regional properties for P01286
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Glucagon/GIP/secretin/VIP | 32 - 58 | IPR000532 |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| extracellular space | That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. |
| perikaryon | The portion of the cell soma (neuronal cell body) that excludes the nucleus. |
| terminal bouton | Terminal inflated portion of the axon, containing the specialized apparatus necessary to release neurotransmitters. The axon terminus is considered to be the whole region of thickening and the terminal bouton is a specialized region of it. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| growth hormone-releasing hormone activity | The action characteristic of growth hormone-releasing hormone, any of a family of peptide hormones that act on the anterior pituitary to stimulate the secretion of growth hormone and exert a trophic effect on the gland. |
| growth hormone-releasing hormone receptor binding | Binding to a growth hormone-releasing hormone receptor. |
| neuropeptide hormone activity | The action characteristic of a neuropeptide hormone, any peptide hormone that acts in the central nervous system. A neuropeptide is any of several types of molecules found in brain tissue, composed of short chains of amino acids; they include endorphins, enkephalins, vasopressin, and others. They are often localized in axon terminals at synapses and are classified as putative neurotransmitters, although some are also hormones. |
| peptide hormone receptor binding | Binding to a receptor for a peptide hormone. |
10 GO annotations of biological process
| Name | Definition |
|---|---|
| adenohypophysis development | The progression of the adenohypophysis over time from its initial formation until its mature state. The adenohypophysis is the anterior part of the pituitary. It secretes a variety of hormones and its function is regulated by the hypothalamus. |
| adenylate cyclase-activating G protein-coupled receptor signaling pathway | A G protein-coupled receptor signaling pathway in which the signal is transmitted via the activation of adenylyl cyclase activity and a subsequent increase in the intracellular concentration of cyclic AMP (cAMP). |
| cell-cell signaling | Any process that mediates the transfer of information from one cell to another. This process includes signal transduction in the receiving cell and, where applicable, release of a ligand and any processes that actively facilitate its transport and presentation to the receiving cell. Examples include signaling via soluble ligands, via cell adhesion molecules and via gap junctions. |
| growth hormone secretion | The regulated release of growth hormone from secretory granules into the blood. |
| positive regulation of cell population proliferation | Any process that activates or increases the rate or extent of cell proliferation. |
| positive regulation of circadian sleep/wake cycle, REM sleep | Any process that activates or increases the duration or quality of rapid eye movement (REM) sleep. |
| positive regulation of growth hormone secretion | Any process that increases the frequency, rate or extent of the regulated release of growth hormone from a cell. |
| positive regulation of insulin-like growth factor receptor signaling pathway | Any process that increases the frequency, rate or extent of insulin-like growth factor receptor signaling. |
| positive regulation of multicellular organism growth | Any process that activates or increases the frequency, rate or extent of growth of an organism to reach its usual body size. |
| response to food | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a food stimulus; food is anything which, when taken into the body, serves to nourish or build up the tissues or to supply body heat. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPLWVFFFVI | LTLSNSSHCS | PPPPLTLRMR | RYADAIFTNS | YRKVLGQLSA | RKLLQDIMSR |
| 70 | 80 | 90 | 100 | ||
| QQGESNQERG | ARARLGRQVD | SMWAEQKQME | LESILVALLQ | KHSRNSQG |