Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
4199
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Malic enzyme 1 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
ME1 |
Synonyms (NCBI Gene)
Gene synonyms aliases
|
HUMNDME, MES |
Chromosome
Chromosome number
|
6 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
6q14.2 |
Summary
Summary of gene provided in NCBI Entrez Gene.
|
This gene encodes a cytosolic, NADP-dependent enzyme that generates NADPH for fatty acid biosynthesis. The activity of this enzyme, the reversible oxidative decarboxylation of malate, links the glycolytic and citric acid cycles. The regulation of expressi |
UniProt ID |
P48163
|
Protein name |
NADP-dependent malic enzyme (NADP-ME) (EC 1.1.1.40) (Malic enzyme 1) |
Protein function |
Catalyzes the oxidative decarboxylation of (S)-malate in the presence of NADP(+) and divalent metal ions, and decarboxylation of oxaloacetate. {ECO:0000269|PubMed:7622060, ECO:0000269|PubMed:7757881, ECO:0000269|PubMed:8187880, ECO:0000269|PubMe |
PDB |
2AW5
,
3WJA
,
7X11
,
7X12
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00390
|
malic |
79 → 260 |
Malic enzyme, N-terminal domain |
Domain |
PF03949
|
Malic_M |
270 → 522 |
Malic enzyme, NAD binding domain |
Domain |
|
Tissue specificity |
TISSUE SPECIFICITY: Expressed in all tissues tested including liver, placenta and white adipose tissue. {ECO:0000269|PubMed:7622060, ECO:0000269|PubMed:8187880}. |
Sequence |
|
Sequence length |
572 |
Interactions |
View interactions
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Obesity |
Obesity |
rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs193922650, rs193922685, rs193922687, rs751160202, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829 View all (27 more) |
19270708 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Schizophrenia |
Schizophrenia |
|
|
GWAS |
Metabolic Syndrome |
Metabolic Syndrome |
|
|
GWAS |
Bipolar Disorder |
Bipolar Disorder |
|
|
GWAS |
Sarcoidosis |
Sarcoidosis |
|
|
GWAS |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Arthritis Reactive |
Associate
|
9169732 |
Breast Neoplasms |
Stimulate
|
30425310 |
Carcinoma Hepatocellular |
Associate
|
25753478, 33579192, 36456877, 38025761, 39354059 |
Carcinoma Non Small Cell Lung |
Associate
|
37410361 |
Carcinoma Pancreatic Ductal |
Associate
|
27840030 |
Carcinoma Renal Cell |
Associate
|
35798876 |
Carotid Artery Diseases |
Associate
|
20536609 |
Cell Transformation Neoplastic |
Inhibit
|
30425310 |
Chemical and Drug Induced Liver Injury |
Associate
|
36840630 |
Colitis Ulcerative |
Associate
|
39596612 |
Colorectal Neoplasms |
Associate
|
26948869 |
Diabetes Mellitus Type 2 |
Associate
|
33469094 |
Glioblastoma |
Associate
|
21156036 |
Hypoxia |
Stimulate
|
32998265 |
Hypoxia Brain |
Associate
|
32998265 |
Liver Failure |
Associate
|
36840630 |
Lung Neoplasms |
Associate
|
34334381 |
Melanoma |
Associate
|
9182820 |
Neoplasm Metastasis |
Associate
|
25753478 |
Neoplasms |
Associate
|
10477256, 12121650, 24853546, 25753478, 26008970, 28263970, 28848047, 32998265, 37967193 |
Peripheral Nervous System Diseases |
Associate
|
37248406 |
Reperfusion Injury |
Associate
|
36840630 |
Squamous Cell Carcinoma of Head and Neck |
Associate
|
29601126, 32998265 |
Urinary Bladder Neoplasms |
Associate
|
34964002 |
|