Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
253430
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Inositol polyphosphate multikinase |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
IPMK |
Synonyms (NCBI Gene)
Gene synonyms aliases
|
- |
Chromosome
Chromosome number
|
10 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
10q21.1 |
Summary
Summary of gene provided in NCBI Entrez Gene.
|
This gene encodes a member of the inositol phosphokinase family. The encoded protein has 3-kinase, 5-kinase and 6-kinase activities on phosphorylated inositol substrates. The encoded protein plays an important role in the biosynthesis of inositol 1,3,4,5, |
UniProt ID |
Q8NFU5
|
Protein name |
Inositol polyphosphate multikinase (EC 2.7.1.140) (EC 2.7.1.151) (EC 2.7.1.153) (Inositol 1,3,4,6-tetrakisphosphate 5-kinase) |
Protein function |
Inositol phosphate kinase with a broad substrate specificity (PubMed:12027805, PubMed:12223481, PubMed:28882892, PubMed:30420721, PubMed:30624931). Phosphorylates inositol 1,4,5-trisphosphate (Ins(1,4,5)P3) first to inositol 1,3,4,5-tetrakisphos |
PDB |
5W2G
,
5W2H
,
5W2I
,
6E7F
,
6M88
,
6M89
,
6M8A
,
6M8B
,
6M8C
,
6M8D
,
6M8E
,
8V6W
,
8V6X
,
8V6Y
,
8V6Z
,
8V70
,
8V71
,
8V72
,
8V73
,
8V74
,
8V75
,
8V76
,
8V77
,
8V78
,
8V79
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF03770
|
IPK |
127 → 411 |
Inositol polyphosphate kinase |
Family |
|
Tissue specificity |
TISSUE SPECIFICITY: Ubiquitous, with the highest expression in skeletal muscle, liver, placenta, lung, peripheral blood leukocytes, kidney, spleen and colon. {ECO:0000269|PubMed:12223481}. |
Sequence |
|
Sequence length |
416 |
Interactions |
View interactions
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Inflammatory bowel disease |
Inflammatory Bowel Diseases |
rs137853579, rs137853580, rs121909601, rs149491038, rs368287711, rs387907326, rs587777338, rs758439420, rs1329427406, rs1264862631, rs1192830343, rs1373354533, rs1419560997, rs1591263883, rs1989014468 |
23128233, 26192919 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Hereditary Neuroendocrine Tumor Of Small Intestine |
hereditary neuroendocrine tumor of small intestine |
|
|
GenCC |
Crohn Disease |
Crohn Disease |
|
|
GWAS |
Metabolic Syndrome |
Metabolic Syndrome |
|
|
GWAS |
Inflammatory Bowel Disease |
Inflammatory Bowel Disease |
|
|
GWAS |
Oligodendroglioma |
Oligodendroglioma |
|
|
GWAS |
Ulcerative colitis |
Ulcerative colitis |
|
|
GWAS |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Autoimmune Diseases |
Associate
|
34143178 |
Breast Neoplasms |
Associate
|
35864548 |
Carcinogenesis |
Associate
|
25865046 |
Carcinoid Tumor |
Associate
|
25865046 |
Carcinoid Tumors Intestinal |
Associate
|
25865046 |
CD59 Deficiency |
Associate
|
27088644 |
Colonic Neoplasms |
Associate
|
39333335 |
Gaucher Disease |
Associate
|
34143178 |
Graves Disease |
Associate
|
34143178 |
Hashimoto Disease |
Associate
|
34143178 |
Hypertension |
Associate
|
34143178 |
Neoplasms |
Associate
|
38565949 |
Thyroiditis Autoimmune |
Associate
|
34143178 |
|