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POMC(138-176) K25* [extracellular region]
Stable Identifier
R-HSA-5623536
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
extracellular region
Synonyms
Corticotropin, ACTH, Adrenocorticotropic hormone
Icon
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Defective ACTH causes obesity and POMCD (Homo sapiens)
Defective ACTH does not bind MCR2 (Homo sapiens)
ACTH mutants [extracellular region] (Homo sapiens)
POMC(138-176) K25* [extracellular region] (Homo sapiens)
External Reference Information
External Reference
UniProt:P01189 POMC
Gene Names
POMC
Chain
signal peptide:1-26, peptide:27-102, peptide:77-87, peptide:105-134, peptide:138-176, peptide:138-150, peptide:156-176, peptide:179-267, peptide:179-234, peptide:217-234, peptide:237-267, peptide:237-241
Reference Genes
BioGPS Gene:5443 POMC
COSMIC (genes):POMC POMC
CTD Gene:5443 POMC
dbSNP Gene:5443 POMC
ENSEMBL:ENSG00000115138 POMC
HGNC:9201 POMC
KEGG:hsa:5443 POMC
Monarch:5443 POMC
NCBI Gene:5443 POMC
OMIM:176830 POMC
UCSC:P01189 POMC
Reference Transcript
RefSeq:NM_001319205.1 POMC
RefSeq:NM_001035256.2 POMC
RefSeq:NM_000939.3 POMC
RefSeq:NM_001319204.1 POMC
Other Identifiers
11716427_a_at
16895337
205720_PM_at
205720_at
2544631
2544632
2544633
2544634
2544635
2544636
2544637
2544638
2544639
2544640
2544641
2544643
2544644
2544647
33711_at
4126575
5443
8050805
A_23_P5875
A_33_P3345036
GE61306
GO:0001664
GO:0005102
GO:0005179
GO:0005515
GO:0005576
GO:0005615
GO:0005737
GO:0006091
GO:0006355
GO:0007165
GO:0007218
GO:0007267
GO:0008217
GO:0019722
GO:0023052
GO:0030141
GO:0031410
GO:0031781
GO:0031782
GO:0032098
GO:0032720
GO:0033059
GO:0034774
GO:0042593
GO:0043226
GO:0045944
GO:0048018
GO:0070873
GO:0070996
GO:0098772
GO:0106071
GO:0140668
GO:1990680
GO:2000852
HMNXSV003041514
ILMN_1672899
ILMN_2403664
PH_hs_0000252
TC02001657.hg
TC02004119.hg
V01510_rna1_at
g4505948_3p_at
Participates
as a member of
ACTH mutants [extracellular region] (Homo sapiens)
Other forms of this molecule
POMC(237-241) [extracellular region]
POMC(237-267) [extracellular region]
POMC(138-176) [extracellular region]
POMC(138-150) [extracellular region]
POMC(217-234) [extracellular region]
POMC(77-87) [extracellular region]
POMC(138-176) [cytosol]
POMC(138-176) E79* [extracellular region]
POMC(138-176) R236G [extracellular region]
POMC(1-241) [secretory granule lumen]
POMC(138-176) [secretory granule lumen]
Modified Residues
Name
Nonsense mutation at L-lysine 25
Coordinate
25
PsiMod
L-lysine removal [MOD:01642]
A protein modification that effectively removes or replaces an L-lysine.
Disease
Name
Identifier
Synonyms
obesity
DOID:9970
Cross References
RefSeq
NP_001306133.1
,
NP_001306134.1
,
NP_000930.1
,
NP_001030333.1
OpenTargets
ENSG00000115138
ENSEMBL
ENST00000395826
,
ENST00000264708
,
ENST00000405623
,
ENSP00000379170
,
ENST00000380794
,
ENSP00000370171
,
ENSP00000264708
,
ENSP00000384092
HPA
ENSG00000115138-POMC
PRO
P01189
Pharos - Targets
P01189
GlyGen
P01189
Orphanet
POMC
HMDB Protein
HMDBP12759
PDB
4XPD
,
8INR
,
4Y49
,
8F7Q
,
8IOC
,
7PIV
,
6TUB
,
7F54
,
4XNH
,
7F53
Interactors (21)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:Q99757 TXN2
2
TXN2 [mitochondrial matrix]
(R-HSA-3323048)
2xHC-TXN2 [mitochondrial matrix]
(R-HSA-3323059)
0.556
3
UniProt:Q8IVS8 GLYCTK
1
GLYCTK [cytosol]
(R-HSA-6799244)
0.556
3
UniProt:Q9NYB9-2 ABI2
0.556
3
UniProt:Q96HA8 NTAQ1
0.556
3
UniProt:Q7RTU4 BHA09
0.556
3
UniProt:P62508-3 ESRRG
0.556
3
UniProt:P51687 SUOX
1
SUOX [mitochondrial matrix]
(R-HSA-1614570)
0.556
3
UniProt:Q68D86 C102B
0.556
3
UniProt:Q7Z4H3 HDDC2
0.556
3
UniProt:Q13064 MKRN3
0.556
3
UniProt:Q8N8Y2 ATP6V0D2
3
ATP6V0D2 [lysosomal membrane]
(R-HSA-9640179)
ATP6V0D2 [phagocytic vesicle membrane]
(R-HSA-1222586)
ATP6V0D2 [endosome membrane]
(R-HSA-912599)
0.556
3
UniProt:Q8NI38 IKBD
0.556
3
UniProt:Q9UMX2-2 OAZ3
0.556
3
UniProt:O75031 HSF2B
0.556
6
UniProt:Q9NX04 AIRIM
0.556
3
UniProt:Q9P2K6 KLHL42
1
KLHL42 [cytosol]
(R-HSA-8863204)
0.556
3
UniProt:Q8NG68 TTL
1
TTL [cytosol]
(R-HSA-8955519)
0.527
2
UniProt:P17707 AMD1
1
AMD1(1-67) [cytosol]
(R-HSA-351223)
0.527
2
UniProt:Q96M94 KLH15
0.527
2
UniProt:A1L157 TSN11
0.527
2
UniProt:Q16254 E2F4
1
E2F4 [nucleoplasm]
(R-HSA-68664)
0.527
2
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