Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
3635
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Inositol polyphosphate-5-phosphatase D |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
INPP5D |
Synonyms (NCBI Gene)
Gene synonyms aliases
|
SHIP, SHIP-1, SHIP1, SIP-145, hp51CN, p150Ship |
Chromosome
Chromosome number
|
2 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
2q37.1 |
Summary
Summary of gene provided in NCBI Entrez Gene.
|
This gene is a member of the inositol polyphosphate-5-phosphatase (INPP5) family and encodes a protein with an N-terminal SH2 domain, an inositol phosphatase domain, and two C-terminal protein interaction domains. Expression of this protein is restricted |
UniProt ID |
Q92835
|
Protein name |
Phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 1 (EC 3.1.3.86) (Inositol polyphosphate-5-phosphatase D) (EC 3.1.3.56) (Inositol polyphosphate-5-phosphatase of 145 kDa) (SIP-145) (Phosphatidylinositol 4,5-bisphosphate 5-phosphatase) (EC 3.1.3.36) ( |
Protein function |
Phosphatidylinositol (PtdIns) phosphatase that specifically hydrolyzes the 5-phosphate of phosphatidylinositol-3,4,5-trisphosphate (PtdIns(3,4,5)P3) to produce PtdIns(3,4)P2, thereby negatively regulating the PI3K (phosphoinositide 3-kinase) pat |
PDB |
2YSX
,
5RW2
,
5RW3
,
5RW4
,
5RW5
,
5RW6
,
5RW7
,
5RW8
,
5RW9
,
5RWA
,
5RWB
,
5RWC
,
5RWD
,
5RWE
,
5RWF
,
5RWG
,
5RWH
,
5RWI
,
5RWJ
,
5RWK
,
5RWL
,
5RWM
,
5RWN
,
5RWO
,
5RWP
,
5RWQ
,
5RWR
,
5RWS
,
5RWT
,
5RWU
,
5RWV
,
5RWW
,
5RWX
,
5RWY
,
5RWZ
,
5RX0
,
5RX1
,
5RX2
,
5RX3
,
5RX4
,
5RX5
,
5RX6
,
5RX7
,
5RX8
,
5RX9
,
5RXA
,
5RXB
,
5RXC
,
5RXD
,
5RXE
,
5RXF
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00017
|
SH2 |
5 → 86 |
SH2 domain |
Domain |
PF03372
|
Exo_endo_phos |
409 → 701 |
Endonuclease/Exonuclease/phosphatase family |
Domain |
|
Tissue specificity |
TISSUE SPECIFICITY: Specifically expressed in immune and hematopoietic cells. Expressed in bone marrow and blood cells. Levels vary considerably within this compartment. Present in at least 74% of immature CD34+ cells, whereas within the more mature popul |
Sequence |
|
Sequence length |
1189 |
Interactions |
View interactions
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Alzheimer disease |
Familial Alzheimer Disease (FAD), Alzheimer Disease, Late Onset, Alzheimer Disease, Early Onset, Alzheimer`s Disease, Alzheimer`s Disease, Focal Onset |
rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039, rs63750973, rs63749810, rs63750643, rs193922916, rs63750306, rs63750590, rs63750526, rs63751235, rs661, rs63751037, rs63749885, rs63750231, rs63751229, rs63751272, rs63751223, rs63750391, rs63751163, rs281875357, rs63751141, rs63750082, rs121917807, rs63751399, rs63750265, rs63751144, rs63750886, rs63751068, rs121917808, rs63749891, rs63750083, rs63749824, rs63750577, rs267606983, rs63750218, rs63751287, rs63750900, rs63751475, rs63750450, rs63749805, rs63751278, rs63751106, rs63750004, rs63749806, rs63751024, rs63750248, rs63750779, rs63751139, rs63750219, rs63750298, rs63750687, rs63750851, rs1553268799, rs1561901881, rs1561905293, rs866101707, rs1566638673, rs63750009, rs1566656702, rs1566657804, rs1567885728, rs1568339995, rs1566630791, rs1555358260, rs63750964, rs1594998354, rs63751316 View all (65 more) |
30320580, 24162737, 30617256, 29777097 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Chronic obstructive pulmonary disease |
Chronic Obstructive Airway Disease |
|
26503814 |
ClinVar |
Eczema |
Eczema |
|
|
GWAS |
Coronary Heart Disease |
Coronary Heart Disease |
|
|
GWAS |
Dementia |
Dementia |
|
|
GWAS |
Dermatitis |
Dermatitis |
|
|
GWAS |
Psoriasis |
Psoriasis |
|
|
GWAS |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Acute Coronary Syndrome |
Associate
|
25319951 |
Alzheimer Disease |
Associate
|
25114068, 28005991, 28199971, 31319229, 35139885, 36334414, 38016942 |
Alzheimer Disease |
Stimulate
|
36981033 |
Carcinogenesis |
Associate
|
19473701 |
Carcinoma Non Small Cell Lung |
Associate
|
39176091 |
COVID 19 |
Associate
|
36334414 |
Crohn Disease |
Associate
|
28767696 |
Cystic Fibrosis |
Associate
|
21282106 |
Dermatitis Atopic |
Associate
|
33901562 |
Diverticulitis |
Associate
|
28619727 |
Fibrosis |
Associate
|
28767696 |
Hemorrhage |
Associate
|
23468366 |
Hepatitis C Chronic |
Associate
|
21917890 |
Hypoxia |
Associate
|
25961455 |
Ileitis |
Associate
|
28767696 |
Inflammation |
Inhibit
|
27463381 |
Inflammation |
Associate
|
36923408, 39755217 |
Leukemia |
Associate
|
35412895 |
Leukemia Lymphoma Adult T Cell |
Associate
|
16217039, 19047050 |
Leukemia Myeloid Acute |
Associate
|
15470047, 35412895 |
Leukemia T Cell |
Associate
|
16351639 |
Liver Cirrhosis |
Associate
|
21917890 |
Lung Neoplasms |
Associate
|
39176091 |
Lymphoma T Cell |
Associate
|
19473701 |
Multiple Sclerosis |
Associate
|
23469041 |
Neoplasms |
Inhibit
|
36958526 |
Neoplasms |
Associate
|
39176091 |
Neutropenia Severe Congenital Autosomal Recessive 3 |
Associate
|
15470047 |
Pancreatic Intraductal Neoplasms |
Associate
|
27539223 |
Pneumonia |
Associate
|
34758804, 36923408 |
Precursor B Cell Lymphoblastic Leukemia Lymphoma |
Inhibit
|
36958526 |
Precursor Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
19473701 |
Precursor T Cell Lymphoblastic Leukemia Lymphoma |
Inhibit
|
36958526 |
Sepsis |
Associate
|
36923408 |
Squamous Cell Carcinoma of Head and Neck |
Associate
|
27584795 |
Stroke |
Associate
|
23468366 |
Tauopathies |
Associate
|
33419465 |
Wiskott Aldrich Syndrome |
Associate
|
27330000 |
|