Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
7416
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Voltage dependent anion channel 1 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
VDAC1 |
Synonyms (NCBI Gene)
Gene synonyms aliases
|
PORIN, VDAC-1 |
Chromosome
Chromosome number
|
5 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
5q31.1 |
Summary
Summary of gene provided in NCBI Entrez Gene.
|
This gene encodes a voltage-dependent anion channel protein that is a major component of the outer mitochondrial membrane. The encoded protein facilitates the exchange of metabolites and ions across the outer mitochondrial membrane and may regulate mitoch |
UniProt ID |
P21796
|
Protein name |
Non-selective voltage-gated ion channel VDAC1 (Outer mitochondrial membrane protein porin 1) (Plasmalemmal porin) (Porin 31HL) (Porin 31HM) (Voltage-dependent anion-selective channel protein 1) (VDAC-1) (hVDAC1) |
Protein function |
Non-selective voltage-gated ion channel that mediates the transport of anions and cations through the mitochondrion outer membrane and plasma membrane (PubMed:10661876, PubMed:11845315, PubMed:18755977, PubMed:30061676, PubMed:8420959). The chan |
PDB |
2JK4
,
2K4T
,
5JDP
,
5XDN
,
5XDO
,
6G6U
,
6G73
,
6TIQ
,
6TIR
,
7QI2
,
8J0O
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF01459
|
Porin_3 |
3 → 276 |
Eukaryotic porin |
Family |
|
Tissue specificity |
TISSUE SPECIFICITY: Expressed in erythrocytes (at protein level) (PubMed:27641616). Expressed in heart, liver and skeletal muscle (PubMed:8420959). {ECO:0000269|PubMed:27641616, ECO:0000269|PubMed:8420959}. |
Sequence |
|
Sequence length |
283 |
Interactions |
View interactions
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Epilepsy |
Epilepsy, Epilepsy, Cryptogenic, Awakening Epilepsy |
rs113994140, rs28937874, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs387906420, rs121917752, rs121918622, rs281865564, rs387907313, rs397514670, rs768241563, rs587776973, rs587776974, rs587776975, rs879255234, rs587776976, rs587776977, rs121917993, rs398123588, rs13306758, rs587777458, rs587777459, rs541024038, rs797044545, rs730882240, rs786205703, rs794726859, rs796053126, rs796053035, rs796053216, rs796052839, rs869025201, rs797044999, rs797044998, rs797045045, rs794726762, rs869312971, rs869312972, rs879255652, rs886037938, rs886037958, rs886037959, rs886037960, rs886037961, rs886037962, rs886037965, rs886037966, rs886039245, rs886039246, rs886039251, rs886039252, rs772872014, rs886039253, rs886039256, rs757511744, rs886039261, rs886039263, rs578185749, rs886039266, rs886039268, rs886039269, rs886039273, rs368820286, rs1057518801, rs1057518688, rs1057519107, rs1057519273, rs752753379, rs767795673, rs1057519424, rs755946598, rs760609867, rs1057521066, rs1057524233, rs1060501488, rs1060501487, rs755127868, rs751533302, rs771373457, rs1475605360, rs1555401942, rs1553567864, rs200661329, rs766667249, rs1556607762, rs1555882921, rs1555882867, rs1555900914, rs1553546836, rs77216276, rs755595256, rs747661902, rs2105890565, rs1021001959, rs1555441032, rs1555439541, rs1556526609, rs1315483224, rs759952667, rs1555885023, rs1553456695, rs1555942720, rs1569083500, rs1559127505, rs1206309859, rs1567139896, rs1567134495, rs1431914212, rs1569166925, rs1569255443, rs1568955379, rs1567152003, rs374158137, rs1567129567, rs1569523728, rs1568991466, rs1569186093, rs1569254004, rs1372605067, rs1569067939, rs1568963062, rs1563959514, rs1569012755, rs1559118914, rs1602338615, rs1596522356, rs1364913665, rs1596522300, rs1596526976, rs1229740428, rs1596385588, rs1596500172, rs1596505517, rs1601925213, rs1601970168, rs1602010382, rs1602903591, rs1603014297, rs1603014708, rs1601875057, rs1601970824, rs1601755632, rs1587393982, rs1592977444, rs1575562076, rs1570998206, rs1588057922, rs1596528731, rs1602349641, rs1587401875, rs2065899210, rs1596526915, rs2093486364, rs2056165149, rs2056100951, rs781482552, rs1899868619, rs1900088045, rs1898675878, rs1898686157, rs1898837245, rs1898844513, rs2082841677, rs2085727988, rs2092933941, rs2091657024, rs1899864955, rs1898844907, rs2083056830, rs2084070588, rs1899713412, rs2082695884, rs1977106116, rs1977105425, rs1443687532 View all (165 more) |
17893921 |
Mitochondrial myopathy |
Mitochondrial Myopathies |
rs121434454 |
8726225 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Myocardial infarction |
Myocardial Infarction |
|
25488258 |
ClinVar |
Alopecia Areata |
Alopecia Areata |
|
|
GWAS |
Eczema |
Eczema |
|
|
GWAS |
Hypothyroidism |
Hypothyroidism |
|
|
GWAS |
Systemic lupus erythematosus |
Systemic lupus erythematosus |
|
|
GWAS |
Multiple Sclerosis |
Multiple Sclerosis |
|
|
GWAS |
Rheumatoid arthritis |
Rheumatoid arthritis |
|
|
GWAS |
Asthma |
Asthma |
|
|
GWAS |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Adenocarcinoma of Lung |
Associate
|
37714937 |
Allan Herndon Dudley syndrome |
Associate
|
8733041 |
Alzheimer Disease |
Associate
|
24063855 |
Alzheimer Disease |
Stimulate
|
26542804 |
Astrocytoma |
Associate
|
36350974 |
Autism Spectrum Disorder |
Associate
|
23333625 |
Breast Neoplasms |
Associate
|
33680287, 35729567, 36042412, 36750173, 37834358 |
Carcinogenesis |
Associate
|
26831666, 27069917, 32436862 |
Carcinoma Hepatocellular |
Associate
|
26831666, 27069917, 37717471 |
Carcinoma Non Small Cell Lung |
Associate
|
20646307, 27304056 |
Carcinoma Renal Cell |
Associate
|
24970796, 32194829 |
Carcinoma Squamous Cell |
Associate
|
32436862 |
Cardiomyopathy Dilated |
Associate
|
36056063 |
Cardiomyopathy Hypertrophic |
Associate
|
11583900 |
Cholangiocarcinoma |
Associate
|
31167495 |
Colitis Ulcerative |
Inhibit
|
35035669 |
Colorectal Neoplasms |
Associate
|
36333388 |
COVID 19 |
Associate
|
33691089, 37834358 |
Dementia |
Associate
|
37834358 |
Diabetes Mellitus Type 2 |
Inhibit
|
28742858 |
Diabetic Retinopathy |
Associate
|
39181068 |
Disease |
Associate
|
24880043 |
Drug Related Side Effects and Adverse Reactions |
Associate
|
20646307, 24063855, 26542804, 26716410 |
Endometrial Neoplasms |
Associate
|
32829673 |
Esophageal Neoplasms |
Associate
|
19360286 |
Esophageal Squamous Cell Carcinoma |
Associate
|
39837946 |
Glucose Intolerance |
Stimulate
|
19504086 |
Haemophilus Infections |
Associate
|
9119489 |
Hereditary pancreatitis |
Associate
|
25333947 |
Hyperglycemia |
Associate
|
31168903 |
Hypoxia |
Stimulate
|
29596470, 32810507 |
Hypoxia |
Associate
|
32194829, 36803235 |
Hypoxia Brain |
Associate
|
32194829 |
Ichthyosis X Linked |
Associate
|
19094960 |
Immune System Diseases |
Associate
|
35729567 |
Inflammation |
Associate
|
33493135 |
Inflammation |
Stimulate
|
39181068 |
Insulinoma |
Associate
|
24947143 |
Leukemia Lymphocytic Chronic B Cell |
Associate
|
24052077, 27078856 |
Leukemia Myeloid Acute |
Associate
|
37344914, 38179723 |
Lung Neoplasms |
Associate
|
25333947 |
Melanoma |
Associate
|
19383853 |
Mitochondrial Complex III Deficiency |
Associate
|
28431142 |
Mitochondrial Diseases |
Associate
|
20028813, 24880043, 33691089, 37717471 |
Multiple Myeloma |
Associate
|
37700273 |
Myopathy with Giant Abnormal Mitochondria |
Associate
|
29596470 |
Neoplasm Metastasis |
Associate
|
26831666 |
Neoplasms |
Associate
|
19094960, 22589539, 23902561, 24947143, 25333947, 26716410, 27304056, 27383047, 27419626, 29596470, 30248940, 31167495, 31542392, 31914854, 32810507 |
Neoplasms |
Stimulate
|
26831666, 32829673 |
Neurodegenerative Diseases |
Associate
|
27064145, 32810507 |
Neurodegenerative Diseases |
Stimulate
|
35258800 |
Osteosarcoma |
Associate
|
36871636 |
Ovarian Neoplasms |
Associate
|
33802591 |
Patterned dystrophy of retinal pigment epithelium |
Associate
|
39181068 |
Polycystic Ovary Syndrome |
Associate
|
34480296 |
Prostatic Neoplasms |
Associate
|
31914854 |
Reperfusion Injury |
Associate
|
37800609 |
Stomach Neoplasms |
Associate
|
26646027, 37296105 |
Tertiary Lymphoid Structures |
Inhibit
|
31167495 |
Triple Negative Breast Neoplasms |
Associate
|
33680287 |
Uterine Cervical Dysplasia |
Associate
|
27419626 |
Uterine Cervical Neoplasms |
Associate
|
26472185, 26716410, 27419626, 32436862, 33000213 |
Uterine Cervicitis |
Associate
|
27419626 |
Vascular System Injuries |
Associate
|
33082910 |
|