POMC - proopiomelanocortin Gene
Also Known as LPH; MSH; NPP; POC; ACTH; CLIP; OBAIRH
Species: Homo sapiens
About POMC
This gene has 5 transcripts (splice variants), 286 orthologues and is associated with 3 phenotypes. Broad expression in testis (RPKM 2.4), pancreas (RPKM 2.0) and 19 other tissues.
Summary
This gene encodes a preproprotein that undergoes extensive, tissue-specific, post-translational processing via cleavage by subtilisin-like Enzymes known as prohormone convertases. There are eight potential cleavage sites within the preproprotein and, depending on tissue type and the available convertases, processing may yield as many as ten biologically active peptides involved in diverse cellular functions. The encoded protein is synthesized mainly in corticotroph cells of the anterior pituitary where four cleavage sites are used; adrenocorticotrophin, essential for normal steroidogenesis and the maintenance of normal adrenal weight, and lipotropin beta are the major end products. In Other tissues, including the hypothalamus, placenta, and epithelium, all cleavage sites may be used, giving rise to peptides with roles in pain and energy homeostasis, melanocyte stimulation, and immune modulation. These include several distinct melanotropins, lipotropins, and endorphins that are contained within the adrenocorticotrophin and beta-lipotropin peptides. The antimicrobial melanotropin alpha peptide exhibits Antibacterial and Antifungal activity. Mutations in this gene have been associated with early onset obesity, adrenal insufficiency, and red hair pigmentation. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jan 2016]
POMC Products (4)
| mRNA | Protein | Name |
|---|---|---|
| NM_000939.4 | NP_000930.1 | pro-opiomelanocortin preproprotein |
| NM_001035256.3 | NP_001030333.1 | pro-opiomelanocortin preproprotein |
| NM_001319204.2 | NP_001306133.1 | pro-opiomelanocortin preproprotein |
| NM_001319205.2 | NP_001306134.1 | pro-opiomelanocortin preproprotein |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables G protein-coupled receptor binding |
IDA
IDA: Inferred from direct assay
|
19452503 | GOA |
| enables hormone activity |
IMP
IMP: Inferred from mutant phenotype
|
9620771 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
32296183 | GOA |
| enables signaling receptor binding |
IMP
IMP: Inferred from mutant phenotype
|
9620771 | GOA |
| enables type 1 melanocortin receptor binding |
IDA
IDA: Inferred from direct assay
|
18292087 | GOA |
| enables type 1 melanocortin receptor binding |
IPI
IPI: Inferred from physical interaction
|
19743876 | GOA |
| enables type 3 melanocortin receptor binding |
IPI
IPI: Inferred from physical interaction
|
19743876 | GOA |
| enables type 4 melanocortin receptor binding |
IPI
IPI: Inferred from physical interaction
|
19743876 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in extracellular space |
IDA
IDA: Inferred from direct assay
|
9620771 | GOA |
| located in peroxisomal matrix |
IDA
IDA: Inferred from direct assay
|
20810565 | GOA |
| NOT located in peroxisome |
IDA
IDA: Inferred from direct assay
|
20810565 | GOA |
POMC Protein Structure
NPP: Pro-opiomelanocortin, N-terminal region (27 - 70)
ACTH_domain: Corticotropin ACTH domain (138 - 176)
Op_neuropeptide: Opioids neuropeptide (237 - 265)
- 0
- 100
- 200
- 267 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
pro-opiomelanocortin |
|
POMC Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
POMC | P01189 | CCDC102B | Homo sapiens | Q68D86 | 32296183 | |
|
Intra
|
POMC | P01189 | NFKBID | Homo sapiens | Q8NI38 | 32296183 | |
|
Intra
|
POMC | P01189 | ABI2 | Homo sapiens | Q9NYB9-2 | 32296183 | |
|
Intra
|
POMC | P01189 | ESRRG | Homo sapiens | P62508-3 | 32296183 | |
|
Intra
|
POMC | P01189 | OAZ3 | Homo sapiens | Q9UMX2-2 | 32296183 | |
|
Intra
|
POMC | P01189 | OAZ3 | Homo sapiens | Q9UMX2-2 | 32296183 | |
|
Intra
|
POMC | P01189 | BHLHA9 | Homo sapiens | Q7RTU4 | 32296183 | |
|
Intra
|
POMC | P01189 | MKRN3 | Homo sapiens | Q13064 | 32296183 | |
|
Intra
|
POMC | P01189 | TXN2 | Homo sapiens | Q99757 | 32296183 | |
|
Intra
|
POMC | P01189 | SUOX | Homo sapiens | P51687 | 32296183 | |
|
Intra
|
POMC | P01189 | ATP6V0D2 | Homo sapiens | Q8N8Y2 | 32296183 | |
|
Intra
|
POMC | P01189 | HDDC2 | Homo sapiens | Q7Z4H3 | 32296183 | |
|
Intra
|
POMC | P01189 | HSF2BP | Homo sapiens | O75031 | 32296183 | |
|
Intra
|
POMC | P01189 | HSF2BP | Homo sapiens | O75031 | 32296183 | |
|
Intra
|
POMC | P01189 | KLHL42 | Homo sapiens | Q9P2K6 | 32296183 | |
|
Intra
|
POMC | P01189 | NTAQ1 | Homo sapiens | Q96HA8 | 32296183 | |
|
Intra
|
POMC | P01189 | GLYCTK | Homo sapiens | Q8IVS8 | 32296183 | |
|
Intra
|
POMC | P01189 | AIRIM | Homo sapiens | Q9NX04 | 32296183 |
POMC Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P81874 | POMC Antibody (YA1619) | WB, IHC-P, IP | Human, Mouse, Rat |
| HY-P83901 | POMC Antibody (YA3598) | ICC/IF, FC, ELISA | Human |
| HY-P83901A | POMC Antibody (YA3598)(PBS only) | ICC/IF, FC, ELISA | Human |
| HY-P85972 | POMC Antibod (YA5664) | IHC-P, ICC/IF, ELISA | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
|
| Body Mass Index Quantitative Trait Locus 11 |
|
|
| Conn'S Syndrome |
|
|
| Nelson Syndrome |
|
|
| Pituitary-Dependent Cushing'S Disease |
|
|
| Adrenal Adenoma |
|
|
| Chronic Fatigue Syndrome |
|
|
| Sheehan Syndrome |
|
|
| Anxiety |
|
|
| Central Diabetes Insipidus |
|
|
| Pituitary Apoplexy |
|
|
| Hyperandrogenism |
|
|
| Empty Sella Syndrome |
|
|
| Pituitary Gland Disease |
|
|
| Bronchial Adenomas/Carcinoids Childhood |
|
|
| Sick Building Syndrome |
|
|
| Ectopic Cushing Syndrome |
|
|
| Hypopituitarism |
|
|
| Hyperprolactinemia |
|
|
| Pituitary Infarct |
|
|
| Pituitary Cancer |
|
|
| Adrenal Gland Disease |
|
|
| Hypokalemia |
|
|
| Adrenal Carcinoma |
|
|
| Functioning Pituitary Adenoma |
|
|
| Achalasia-Addisonianism-Alacrima Syndrome |
|
|
| Steroid Inherited Metabolic Disorder |
|
|
| Adrenal Cortex Disease |
|
|
| Hypoadrenocorticism, Familial |
|
|
| Premature Ovarian Failure 7 |
|
|
| Hyperaldosteronism, Familial, Type I |
|
|
| Adrenal Cortical Hypofunction |
|
|
| Anorexia Nervosa |
|
|
| Basophil Adenoma |
|
|
| Waterhouse-Friderichsen Syndrome |
|
|
| Acromegaly |
|
|
| Diabetes Insipidus |
|
|
| Adenoma |
|
|
| Glucocorticoid Deficiency 1 |
|
|
| Endocrine Organ Benign Neoplasm |
|
|
| Cocaine Dependence |
|
|
| Major Depressive Disorder |
|
|
| Chiasmal Syndrome |
|
|
| Tuberculum Sellae Meningioma |
|
|
| Sella Turcica Neoplasm |
|
|
| Pituitary Adenoma |
|
|
| Adrenal Cortical Adenoma |
|
|
| Inappropriate Adh Syndrome |
|
|
| Rhinitis |
|
|
| Pituitary Hormone Deficiency, Combined, 2 |
|
|
| Basophilic Adenocarcinoma |
|
|
| Antley-Bixler Syndrome |
|
|
| Acth-Secreting Pituitary Adenoma |
|
|
| Lipoid Congenital Adrenal Hyperplasia |
|
|
| Hypoglycemia |
|
|
| Aromatase Excess Syndrome |
|
|
| Adrenal Rest Tumor |
|
|
| Panic Disorder |
|
|
| Cranial Nerve Palsy |
|
|
| Sebaceous Gland Disease |
|
|
| Amenorrhea |
|
|
| Acute Adrenal Insufficiency |
|
|
| Hypothyroidism, Congenital, Nongoitrous, 4 |
|
|
| Gynecomastia |
|
|
| Drug Dependence |
|
|
| Post-Traumatic Stress Disorder |
|
|
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
|
| Fibromyalgia |
|
|
| Chromophobe Adenoma |
|
|
| Acth Deficiency, Isolated |
|
|
| Gastrinoma |
|
|
| Hyperpituitarism |
|
|
| Polycystic Ovary Syndrome |
|
|
| West Syndrome |
|
|
| Corticosteroid-Binding Globulin Deficiency |
|
|
| Mediastinal Lipomatosis |
|
|
| Conduct Disorder |
|
|
| Acidophil Adenoma |
|
|
| Acth-Independent Macronodular Adrenal Hyperplasia 1 |
|
|
| Hypogonadism |
|
|
| Primary Pigmented Nodular Adrenocortical Disease |
|
|
| Pain Agnosia |
|
|
| Prolactinoma |
|
|
| Alcohol Dependence |
|
|
| Leptin Deficiency Or Dysfunction |
|
|
| Exophthalmic Ophthalmoplegia |
|
|
| Infancy Electroclinical Syndrome |
|
|
| Acne |
|
|
| Pheochromocytoma |
|
|
| Developmental And Epileptic Encephalopathy 91 |
|
|
| Asthma |
|
|
| Dowling-Degos Disease 1 |
|
|
| Wissler-Fanconi Syndrome |
|
|
| Subacute Glomerulonephritis |
|
|
| Melancholia |
|
|
| Prolactin Producing Pituitary Tumor |
|
|
| Hypothyroidism |
|
|
| Hypothalamic Disease |
|
|
| Agnosia |
|
|
| Prostate Adenoid Cystic Carcinoma |
|
|
| Medulloadrenal Hyperfunction |
|
|
| Factitious Disorder |
|
|
| Atypical Depressive Disorder |
|
|
| Multiple Endocrine Neoplasia |
|
|
| Familial Glucocorticoid Deficiency |
|
|
| Neuroendocrine Tumor |
|
|
| Hyperthyroidism |
|
|
| Obsessive-Compulsive Disorder |
|
|
| Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 |
|
|
| Small Cell Cancer Of The Lung |
|
|
| Irritable Bowel Syndrome |
|
|
| Glucose Intolerance |
|
|
| Diabetes Insipidus, Neurohypophyseal |
|
|
| Retrograde Amnesia |
|
|
| Withdrawal Disorder |
|
|
| Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
|
| Gangliocytoma |
|
|
| Mediastinum Teratoma |
|
|
| Hypoaldosteronism |
|
|
| Paraganglioma |
|
|
| Premenstrual Tension |
|
|
| Sphenoid Sinusitis |
|
|
| Arachnoiditis |
|
|
| Lung Oat Cell Carcinoma |
|
|
| Adrenal Hypoplasia, Congenital |
|
|
| Endogenous Depression |
|
|
| Prader-Willi Syndrome |
|
|
| Mood Disorder |
|
|
| Adrenal Cortical Carcinoma |
|
|
| Speech And Communication Disorders |
|
|
| Central Precocious Puberty |
|
|
| Apparent Mineralocorticoid Excess |
|
|
| Restless Legs Syndrome |
|
|
| Cortisone Reductase Deficiency |
|
|
| Benign Shuddering Attacks |
|
|
| Mineral Metabolism Disease |
|
|
| Carney Complex Variant |
|
|
| Euthyroid Sick Syndrome |
|
|
| Cell Type Benign Neoplasm |
|
|
| Tsh Producing Pituitary Tumor |
|
|
| Postpartum Depression |
|
|
| Abducens Palsy |
|
|
| Cortisone Reductase Deficiency 2 |
|
|
| Specific Developmental Disorder |
|
|
| Melanotic Neurilemmoma |
|
|
| Skin Carcinoma |
|
|
| Acquired Immunodeficiency Syndrome |
|
|
| Thyroid Gland Disease |
|
|
| Neurotic Disorder |
|
|
| Graves Disease 1 |
|
|
| Myxedema |
|
|
| Hypogonadotropic Hypogonadism |
|
|
| Suprasellar Meningioma |
|
|
| Pituitary Hypoplasia |
|
|
| 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency |
|
|
| Hormone Producing Pituitary Cancer |
|
|
| Mental Depression |
|
|
| Alzheimer Disease 16 |
|
|
| Dysthymic Disorder |
|
|
| Hypochondriasis |
|
|
| Central Pontine Myelinolysis |
|
|
| Opiate Dependence |
|
|
| Corticosterone Methyloxidase Type I Deficiency |
|
|
| Malignant Olfactory Nerve Neoplasm |
|
|
| Phobic Disorder |
|
|
| Thyroid Crisis |
|
|
| Growth Hormone Secreting Pituitary Adenoma |
|
|
| Trichinosis |
|
|
| Septooptic Dysplasia |
|
|
| Bardet-Biedl Syndrome |
|
|
| Ovarian Disease |
|
|
| Motion Sickness |
|
|
| Basal Ganglia Cerebrovascular Disease |
|
|
| Functionless Pituitary Adenoma |
|
|
| Cranial Nerve Malignant Neoplasm |
|
|
| Adult Syndrome |
|
|
| Intracranial Hypertension, Idiopathic |
|
|
| Tuberculous Epididymitis |
|
|
| Temporal Arteritis |
|
|
| Acute Stress Disorder |
|
|
| Developmental And Epileptic Encephalopathy 30 |
|
|
| Persistent Fetal Circulation Syndrome |
|
|
| Generalized Anxiety Disorder |
|
|
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
|
| Thyroid Gland Cancer |
|
|
| Hirata Disease |
|
|
| Mccune-Albright Syndrome |
|
|
| Hypertension, Essential |
|
|
| Pancreatic Endocrine Carcinoma |
|
|
| Lennox-Gastaut Syndrome |
|
|
| Angelman Syndrome |
|
|
| Precocious Puberty, Male-Limited |
|
|
| Microphthalmia |
|
|
| Cavernous Sinus Thrombosis |
|
|
| Sexual Sadism |
|
|
| Ovarian Serous Adenofibroma |
|
|
| Neurodermatitis |
|
|
| Substance Dependence |
|
|
| Islet Cell Tumor |
|
|
| Landau-Kleffner Syndrome |
|
|
| Somatization Disorder |
|
|
| Rett Syndrome |
|
|
| Hair Disease |
|
|
| Hypoglycemic Coma |
|
|
| Eating Disorder |
|
|
| Post-Vaccinal Encephalitis |
|
|
| Adjustment Disorder |
|
|
| Social Phobia |
|
|
| Opioid Abuse |
|
|
| Nodular Nonsuppurative Panniculitis |
|
|
| Sleep Disorder |
|
|
| Glycerol Kinase Deficiency |
|
|
| Germinoma |
|
|
| Acquired Metabolic Disease |
|
|
| Basal Cell Carcinoma |
|
|
| Flying Phobia |
|
|
| Intracranial Hypertension |
|
|
| Gaba Aminotransferase Deficiency |
|
|
| Somatoform Disorder |
|
|
| Clivus Meningioma |
|
|
| Disorder Of Sexual Development |
|
|
| Pancreatic Cystadenoma |
|
|
| Fetal Alcohol Spectrum Disorder |
|
|
| Scleredema Adultorum |
|
|
| Disease Of Mental Health |
|
|
| Substance Abuse |
|
|
| Pseudohermaphroditism |
|
|
| Adamantinous Craniopharyngioma |
|
|
| Thyroid Gland Medullary Carcinoma |
|
|
| Pigmentation Disease |
|
|
| Palmoplantar Keratoderma, Punctate Type Iii |
|
|
| Pseudohypoparathyroidism, Type Ia |
|
|
| Childhood Electroclinical Syndrome |
|
|
| Peripheral Nervous System Benign Neoplasm |
|
|
| Autonomic Nervous System Benign Neoplasm |
|
|
| Optic Nerve Hypoplasia, Bilateral |
|
|
| Apnea, Obstructive Sleep |
|
|
| Skin Atrophy |
|
|
| Orthostatic Intolerance |
|
|
| Alcohol Use Disorder |
|
|
| Van Maldergem Syndrome 1 |
|
|
| Overnutrition |
|
|
| Physical Disorder |
|
|
| X-Linked Chondrodysplasia Punctata 1 |
|
|
| 46,Xy Sex Reversal |
|
|
| Diabetes Mellitus |
|
|
| Hyperchlorhidrosis, Isolated |
|
|
| Multiple Endocrine Neoplasia, Type I |
|
|
| Aspiration Pneumonia |
|
|
| Melanoma |
|
|
| Liddle Syndrome 1 |
|
|
| Cranial Nerve Disease |
|
|
| Central Nervous System Benign Neoplasm |
|
|
| Schizophrenia 14 |
|
|
| Premature Menopause |
|
|
| Lipid Metabolism Disorder |
|
|
| Autoimmune Disease Of Endocrine System |
|
|
| Barbiturate Abuse |
|
|
| Paine Syndrome |
|
|
| Epilepsy |
|
|
| Hyperinsulinemic Hypoglycemia |
|
|
| Hypertrichosis |
|
|
| Thyroid Dyshormonogenesis 2a |
|
|
| Cerebral Degeneration |
|
|
| Inguinal Hernia |
|
|
| Retinitis Pigmentosa 18 |
|
|
| Schizophrenia |
|
|
| Cryptorchidism, Unilateral Or Bilateral |
|
|
| Migraine With Or Without Aura 1 |
|
|
| Tobacco Addiction |
|
|
| Early Myoclonic Encephalopathy |
|
|
| Partial Third-Nerve Palsy |
|
|
| Constipation |
|
|
| Childhood Absence Epilepsy |
|
|
| Attention Deficit-Hyperactivity Disorder |
|
|
| Peripheral Nervous System Disease |
|
|
| Early Infantile Epileptic Encephalopathy |
|
|
| Meningioma, Familial |
|
|
| Skin Disease |
|
|
| Kallmann Syndrome |
|
|
| Nervous System Disease |
|
|
| Type 2 Diabetes Mellitus |
|
|
| Eye Disease |
|
|
| Congenital Nervous System Abnormality |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | POMC | MGD | MGI:97742 |
| Rattus norvegicus | POMC | RGD | RGD:3366 |
| Macaca mulatta | POMC | VGNC | VGNC:76218 |
| Felis catus | POMC | VGNC | VGNC:81153 |
| Bos taurus | POMC | VGNC | VGNC:33155 |
| Canis familiaris | POMC | VGNC | VGNC:44808 |
| Others | POMC | NCBI |