PIP4P1 - phosphatidylinositol-4,5-bisphosphate 4-phosphatase 1 Gene

Also Known as C14orf9; TMEM55B

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 90809

About PIP4P1

Cytogenetic location: 14q11.2 Genomic coordinates (GRCh38): 14:20,457,681-20,461,434 (from NCBI)

This gene has 7 transcripts (splice variants), 259 orthologues and 1 paralogue. Ubiquitous expression in bone marrow (RPKM 22.8), thyroid (RPKM 17.4) and 25 other tissues.

Summary

TMEM55B catalyzes the degradation of phosphatidylinositol 4,5-bisphosphate (PtdIns-4,5-P2) by removing the 4-phosphate (Ungewickell et al., 2005 [PubMed 16365287]).[supplied by OMIM, Mar 2008]

PIP4P1 Products (2)

mRNA Protein Name
NM_001100814.3 NP_001094284.1 type 1 phosphatidylinositol 4,5-bisphosphate 4-phosphatase isoform 1
NM_144568.4 NP_653169.2 type 1 phosphatidylinositol 4,5-bisphosphate 4-phosphatase isoform 2
Molecular Function GO Annotation Evidence References Source
enables phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity IDA
IDA: Inferred from direct assay
16365287 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
29644770 GOA
Biological Process GO Annotation Evidence References Source
involved in cholesterol metabolic process IMP
IMP: Inferred from mutant phenotype
25035345 GOA
involved in lysosome localization IMP
IMP: Inferred from mutant phenotype
29146937 GOA
involved in phosphatidylinositol dephosphorylation IDA
IDA: Inferred from direct assay
16365287 GOA
involved in positive regulation of TORC1 signaling IMP
IMP: Inferred from mutant phenotype
29644770 GOA
involved in response to sterol depletion IDA
IDA: Inferred from direct assay
25035345 GOA
Cellular Component GO Annotation Evidence References Source
located in late endosome membrane IDA
IDA: Inferred from direct assay
16365287 GOA
located in lysosomal membrane IDA
IDA: Inferred from direct assay
16365287 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PIP4P1 Protein Structure

Tmemb_55A

Tmemb_55A: Transmembrane protein 55A (3 - 270)

  • 0
  • 100
  • 200
  • 277 a.a.
Protein Preferred Names Protein Names

type 1 phosphatidylinositol 4,5-bisphosphate 4-phosphatase

  • ptdIns-4,5-P(2) 4-phosphatase type I

PIP4P1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
PIP4P1 Q86T03 RILPL1 Homo sapiens Q5EBL4-3 32296183
Intra
PIP4P1 Q86T03 RILPL1 Homo sapiens Q5EBL4-3 32296183
Intra
PIP4P1 Q86T03 EPN2 Homo sapiens O95208-2 32296183
Intra
PIP4P1 Q86T03 EPN2 Homo sapiens O95208-2 32296183
Intra
PIP4P1 Q86T03 SLC10A6 Homo sapiens Q3KNW5 32296183
Intra
PIP4P1 Q86T03 SLC10A6 Homo sapiens Q3KNW5 32296183
Intra
PIP4P1 Q86T03 YWHAG Homo sapiens P61981 32814053
Intra
PIP4P1 Q86T03 YWHAG Homo sapiens P61981 32814053
Intra
PIP4P1 Q86T03 YWHAG Homo sapiens P61981 32814053
Intra
PIP4P1 Q86T03 PLEKHB2 Homo sapiens Q96CS7 32296183
Intra
PIP4P1 Q86T03 PLEKHB2 Homo sapiens Q96CS7 32296183
Intra
PIP4P1 Q86T03 PLEKHB2 Homo sapiens Q96CS7 32296183
Intra
PIP4P1 Q86T03 KAT5 Homo sapiens Q92993 32814053
Intra
PIP4P1 Q86T03 KAT5 Homo sapiens Q92993 32814053
Intra
PIP4P1 Q86T03 KAT5 Homo sapiens Q92993 32814053
Intra
PIP4P1 Q86T03 SETDB1 Homo sapiens Q15047-2 32814053
Intra
PIP4P1 Q86T03 SETDB1 Homo sapiens Q15047-2 32814053
Intra
PIP4P1 Q86T03 SETDB1 Homo sapiens Q15047-2 32814053
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Deafness, Autosomal Recessive 99
  • DFNB99

  • Autosomal Recessive Nonsyndromic Deafness 99

  • Autosomal Recessive Deafness 99

  • Deafness, Autosomal Recessive, 99

Lung Mucoepidermoid Carcinoma
  • Mucoepidermoid Carcinoma Of Lung

Congenital Disorder Of Glycosylation, Type Ip
  • CDG1P

  • Congenital Disorder Of Glycosylation Ip

  • Congenital Disorder Of Glycosylation 1p

  • Alg11-Cdg

  • Cdg-Ip

  • Congenital Disorder Of Glycosylation Type Ip

  • Cdg Syndrome Type Ip

  • Carbohydrate Deficient Glycoprotein Syndrome Type Ip

  • Congenital Disorder Of Glycosylation Type 1p

  • Cdgip

  • Cdg Ip

  • Glycosylation, Congenital Disorder Of, Type Ip

Hermansky-Pudlak Syndrome 2
  • HPS2

  • Hermansky Pudlak Syndrome 2

  • Platelet Defects And Oculocutaneous Albinism

  • Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial

  • Delta Storage Pool Disease

  • Hermansky-Pudlak Syndrome, Type 2

  • Platelet Storage Pool Deficiency

  • Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus PIP4P1 MGD MGI:2448501
Felis catus PIP4P1 VGNC VGNC:64183
Bos taurus PIP4P1 VGNC VGNC:32909
Rattus norvegicus PIP4P1 RGD RGD:1307475
Canis familiaris PIP4P1 VGNC VGNC:44573
Others PIP4P1 NCBI