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Protein

Pro-opiomelanocortin

Gene

POMC

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Corticotropin: Stimulates the adrenal glands to release cortisol.
Melanocyte-stimulating hormone alpha: Anorexigenic peptide. Increases the pigmentation of skin by increasing melanin production in melanocytes.
Melanocyte-stimulating hormone beta: Increases the pigmentation of skin by increasing melanin production in melanocytes.
Beta-endorphin: Endogenous orexigenic opiate.
Met-enkephalin: Endogenous opiate.

GO - Molecular functioni

  • G protein-coupled receptor binding Source: BHF-UCL
  • hormone activity Source: UniProtKB
  • signaling receptor binding Source: UniProtKB
  • type 1 melanocortin receptor binding Source: BHF-UCL
  • type 3 melanocortin receptor binding Source: BHF-UCL
  • type 4 melanocortin receptor binding Source: BHF-UCL

GO - Biological processi

Keywordsi

Molecular functionEndorphin, Hormone

Enzyme and pathway databases

ReactomeiR-HSA-111885 Opioid Signalling
R-HSA-193048 Androgen biosynthesis
R-HSA-194002 Glucocorticoid biosynthesis
R-HSA-202040 G-protein activation
R-HSA-209952 Peptide hormone biosynthesis
R-HSA-211976 Endogenous sterols
R-HSA-375276 Peptide ligand-binding receptors
R-HSA-418555 G alpha (s) signalling events
R-HSA-418594 G alpha (i) signalling events
R-HSA-5579031 Defective ACTH causes Obesity and Pro-opiomelanocortinin deficiency (POMCD)
R-HSA-6785807 Interleukin-4 and Interleukin-13 signaling
SIGNORiP01189

Names & Taxonomyi

Protein namesi
Recommended name:
Pro-opiomelanocortin
Short name:
POMC
Alternative name(s):
Corticotropin-lipotropin
Cleaved into the following 11 chains:
Alternative name(s):
Gamma-MSH
Alternative name(s):
Adrenocorticotropic hormone
Short name:
ACTH
Alternative name(s):
Melanotropin alpha
Alternative name(s):
Beta-LPH
Alternative name(s):
Gamma-LPH
Alternative name(s):
Melanotropin beta
Gene namesi
Name:POMC
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000115138.10
HGNCiHGNC:9201 POMC
MIMi176830 gene
neXtProtiNX_P01189

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

Obesity (OBESITY)1 Publication
Disease susceptibility may be associated with variations affecting the gene represented in this entry.
Disease descriptionA condition characterized by an increase of body weight beyond the limitation of skeletal and physical requirements, as the result of excessive accumulation of body fat.
See also OMIM:601665
Obesity, early-onset, with adrenal insufficiency and red hair (OBAIRH)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by early-onset obesity due to severe hyperphagia, pigmentary abnormalities, mainly pale skin and red hair, and secondary hypocortisolism.
See also OMIM:609734

Keywords - Diseasei

Obesity

Organism-specific databases

DisGeNETi5443
GeneReviewsiPOMC
MalaCardsiPOMC
MIMi601665 phenotype
609734 phenotype
OpenTargetsiENSG00000115138
Orphaneti71526 Obesity due to pro-opiomelanocortin deficiency
PharmGKBiPA33526

Chemistry databases

DrugBankiDB01565 Dihydromorphine
DB01497 Etorphine
DB00836 Loperamide

Polymorphism and mutation databases

BioMutaiPOMC
DMDMi116880

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 263 PublicationsAdd BLAST26
PeptideiPRO_000002496627 – 102NPPAdd BLAST76
PeptideiPRO_000002496777 – 87Melanotropin gamma1 PublicationAdd BLAST11
PeptideiPRO_0000024968105 – 134Potential peptideAdd BLAST30
PeptideiPRO_0000024969138 – 176CorticotropinAdd BLAST39
PeptideiPRO_0000024970138 – 150Melanocyte-stimulating hormone alphaAdd BLAST13
PeptideiPRO_0000024971156 – 176Corticotropin-like intermediary peptideAdd BLAST21
PeptideiPRO_0000024972179 – 267Lipotropin betaAdd BLAST89
PeptideiPRO_0000024973179 – 234Lipotropin gammaAdd BLAST56
PeptideiPRO_0000024974217 – 234Melanocyte-stimulating hormone betaAdd BLAST18
PeptideiPRO_0000024975237 – 267Beta-endorphinAdd BLAST31
PeptideiPRO_0000024976237 – 241Met-enkephalin5

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi28 ↔ 50By similarity
Glycosylationi71O-linked (HexNAc...) threonine1 Publication1
Modified residuei87Phenylalanine amideBy similarity1
Glycosylationi91N-linked (GlcNAc...) asparagine1
Modified residuei134Glutamic acid 1-amide1 Publication1
Modified residuei138N-acetylserine; in CorticotropinBy similarity1
Modified residuei150Valine amideBy similarity1
Modified residuei168PhosphoserineCombined sources1

Post-translational modificationi

Specific enzymatic cleavages at paired basic residues yield the different active peptides.1 Publication
O-glycosylated; reducing sugar is probably N-acetylgalactosamine.

Keywords - PTMi

Acetylation, Amidation, Cleavage on pair of basic residues, Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiP01189
PeptideAtlasiP01189
PRIDEiP01189
ProteomicsDBi51343

PTM databases

iPTMnetiP01189
PhosphoSitePlusiP01189

Miscellaneous databases

PMAP-CutDBiP01189

Expressioni

Tissue specificityi

ACTH and MSH are produced by the pituitary gland.

Gene expression databases

BgeeiENSG00000115138 Expressed in 93 organ(s), highest expression level in pituitary gland
CleanExiHS_POMC
ExpressionAtlasiP01189 baseline and differential
GenevisibleiP01189 HS

Organism-specific databases

HPAiCAB002762
HPA046135
HPA063644

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
HSF2BPO750314EBI-12219503,EBI-7116203

GO - Molecular functioni

Protein-protein interaction databases

BioGridi111439, 14 interactors
IntActiP01189, 16 interactors
STRINGi9606.ENSP00000264708

Structurei

3D structure databases

ProteinModelPortaliP01189
SMRiP01189
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the POMC family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiENOG410IKR5 Eukaryota
ENOG410Z5R4 LUCA
GeneTreeiENSGT00390000016811
HOVERGENiHBG004341
InParanoidiP01189
KOiK05228
OMAiVMSHFRW
OrthoDBiEOG091G0V3J
PhylomeDBiP01189
TreeFamiTF333215

Family and domain databases

InterProiView protein in InterPro
IPR013531 Mcrtin_ACTH_cent
IPR013593 Melanocortin_N
IPR013532 Opioid_neuropept
IPR001941 PMOC
PfamiView protein in Pfam
PF00976 ACTH_domain, 3 hits
PF08384 NPP, 1 hit
PF08035 Op_neuropeptide, 1 hit
PRINTSiPR00383 MELANOCORTIN
SMARTiView protein in SMART
SM01363 ACTH_domain, 2 hits
SM01364 NPP, 1 hit
SM01365 Op_neuropeptide, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

P01189-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MPRSCCSRSG ALLLALLLQA SMEVRGWCLE SSQCQDLTTE SNLLECIRAC
60 70 80 90 100
KPDLSAETPM FPGNGDEQPL TENPRKYVMG HFRWDRFGRR NSSSSGSSGA
110 120 130 140 150
GQKREDVSAG EDCGPLPEGG PEPRSDGAKP GPREGKRSYS MEHFRWGKPV
160 170 180 190 200
GKKRRPVKVY PNGAEDESAE AFPLEFKREL TGQRLREGDG PDGPADDGAG
210 220 230 240 250
AQADLEHSLL VAAEKKDEGP YRMEHFRWGS PPKDKRYGGF MTSEKSQTPL
260
VTLFKNAIIK NAYKKGE
Length:267
Mass (Da):29,424
Last modified:February 1, 1991 - v2
Checksum:iB927323474A67536
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PHK5E9PHK5_HUMAN
Pro-opiomelanocortin
POMC
246Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti48R → G (PubMed:6254047).Curated1
Sequence conflicti115P → T (PubMed:6299668).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0106997S → T1 Publication1
Natural variantiVAR_0107009S → L1 PublicationCorresponds to variant dbSNP:rs139750421Ensembl.1
Natural variantiVAR_02976262P → L. Corresponds to variant dbSNP:rs28932471Ensembl.1
Natural variantiVAR_01071497 – 99Missing 3 Publications3
Natural variantiVAR_010715106D → N1 PublicationCorresponds to variant dbSNP:rs750136455Ensembl.1
Natural variantiVAR_029314132P → A. Corresponds to variant dbSNP:rs8192606Ensembl.1
Natural variantiVAR_010716214E → G1 PublicationCorresponds to variant dbSNP:rs80326661EnsemblClinVar.1
Natural variantiVAR_010701236R → G May confer susceptibility to obesity; reduces the ability to activate melanocortin receptor 4. 2 PublicationsCorresponds to variant dbSNP:rs28932472EnsemblClinVar.1
Natural variantiVAR_012201236R → Q1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M38297 mRNA Translation: AAA60140.1
J00292, J00291 Genomic DNA Translation: AAB59621.1
V01510 Genomic DNA Translation: CAA24754.1
AC012457 Genomic DNA Translation: AAY24354.1
CH471053 Genomic DNA Translation: EAX00729.1
CH471053 Genomic DNA Translation: EAX00730.1
BC065832 mRNA Translation: AAH65832.1
M25896 mRNA Translation: AAA35799.1
CCDSiCCDS1717.1
PIRiA17229 CTHUP
RefSeqiNP_000930.1, NM_000939.3
NP_001030333.1, NM_001035256.2
NP_001306133.1, NM_001319204.1
NP_001306134.1, NM_001319205.1
UniGeneiHs.1897

Genome annotation databases

EnsembliENST00000264708; ENSP00000264708; ENSG00000115138
ENST00000380794; ENSP00000370171; ENSG00000115138
ENST00000395826; ENSP00000379170; ENSG00000115138
ENST00000405623; ENSP00000384092; ENSG00000115138
GeneIDi5443
KEGGihsa:5443
UCSCiuc002rfy.1 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

Wikipedia

Melanocyte-stimulating hormone entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M38297 mRNA Translation: AAA60140.1
J00292, J00291 Genomic DNA Translation: AAB59621.1
V01510 Genomic DNA Translation: CAA24754.1
AC012457 Genomic DNA Translation: AAY24354.1
CH471053 Genomic DNA Translation: EAX00729.1
CH471053 Genomic DNA Translation: EAX00730.1
BC065832 mRNA Translation: AAH65832.1
M25896 mRNA Translation: AAA35799.1
CCDSiCCDS1717.1
PIRiA17229 CTHUP
RefSeqiNP_000930.1, NM_000939.3
NP_001030333.1, NM_001035256.2
NP_001306133.1, NM_001319204.1
NP_001306134.1, NM_001319205.1
UniGeneiHs.1897

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4XNHX-ray2.10F138-145[»]
4XPDX-ray2.81F138-145[»]
4Y49X-ray3.95E/K/Q138-145[»]
ProteinModelPortaliP01189
SMRiP01189
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111439, 14 interactors
IntActiP01189, 16 interactors
STRINGi9606.ENSP00000264708

Chemistry databases

DrugBankiDB01565 Dihydromorphine
DB01497 Etorphine
DB00836 Loperamide

PTM databases

iPTMnetiP01189
PhosphoSitePlusiP01189

Polymorphism and mutation databases

BioMutaiPOMC
DMDMi116880

Proteomic databases

PaxDbiP01189
PeptideAtlasiP01189
PRIDEiP01189
ProteomicsDBi51343

Protocols and materials databases

DNASUi5443
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000264708; ENSP00000264708; ENSG00000115138
ENST00000380794; ENSP00000370171; ENSG00000115138
ENST00000395826; ENSP00000379170; ENSG00000115138
ENST00000405623; ENSP00000384092; ENSG00000115138
GeneIDi5443
KEGGihsa:5443
UCSCiuc002rfy.1 human

Organism-specific databases

CTDi5443
DisGeNETi5443
EuPathDBiHostDB:ENSG00000115138.10
GeneCardsiPOMC
GeneReviewsiPOMC
HGNCiHGNC:9201 POMC
HPAiCAB002762
HPA046135
HPA063644
MalaCardsiPOMC
MIMi176830 gene
601665 phenotype
609734 phenotype
neXtProtiNX_P01189
OpenTargetsiENSG00000115138
Orphaneti71526 Obesity due to pro-opiomelanocortin deficiency
PharmGKBiPA33526
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IKR5 Eukaryota
ENOG410Z5R4 LUCA
GeneTreeiENSGT00390000016811
HOVERGENiHBG004341
InParanoidiP01189
KOiK05228
OMAiVMSHFRW
OrthoDBiEOG091G0V3J
PhylomeDBiP01189
TreeFamiTF333215

Enzyme and pathway databases

ReactomeiR-HSA-111885 Opioid Signalling
R-HSA-193048 Androgen biosynthesis
R-HSA-194002 Glucocorticoid biosynthesis
R-HSA-202040 G-protein activation
R-HSA-209952 Peptide hormone biosynthesis
R-HSA-211976 Endogenous sterols
R-HSA-375276 Peptide ligand-binding receptors
R-HSA-418555 G alpha (s) signalling events
R-HSA-418594 G alpha (i) signalling events
R-HSA-5579031 Defective ACTH causes Obesity and Pro-opiomelanocortinin deficiency (POMCD)
R-HSA-6785807 Interleukin-4 and Interleukin-13 signaling
SIGNORiP01189

Miscellaneous databases

ChiTaRSiPOMC human
GeneWikiiProopiomelanocortin
GenomeRNAii5443
PMAP-CutDBiP01189
PROiPR:P01189
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000115138 Expressed in 93 organ(s), highest expression level in pituitary gland
CleanExiHS_POMC
ExpressionAtlasiP01189 baseline and differential
GenevisibleiP01189 HS

Family and domain databases

InterProiView protein in InterPro
IPR013531 Mcrtin_ACTH_cent
IPR013593 Melanocortin_N
IPR013532 Opioid_neuropept
IPR001941 PMOC
PfamiView protein in Pfam
PF00976 ACTH_domain, 3 hits
PF08384 NPP, 1 hit
PF08035 Op_neuropeptide, 1 hit
PRINTSiPR00383 MELANOCORTIN
SMARTiView protein in SMART
SM01363 ACTH_domain, 2 hits
SM01364 NPP, 1 hit
SM01365 Op_neuropeptide, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiCOLI_HUMAN
AccessioniPrimary (citable) accession number: P01189
Secondary accession number(s): P78442
, Q53T23, Q9UD39, Q9UD40
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: February 1, 1991
Last modified: November 7, 2018
This is version 199 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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