PIP5K1B - phosphatidylinositol-4-phosphate 5-kinase type 1 beta Gene

Also Known as MSS4; STM7

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 8395

About PIP5K1B

Cytogenetic location: 9q21.11 Genomic coordinates (GRCh38): 9:68,705,240-69,009,176 (from NCBI)

This gene has 8 transcripts (splice variants), 275 orthologues and 6 paralogues. Broad expression in colon (RPKM 8.2), duodenum (RPKM 7.6) and 20 other tissues.

Summary

Predicted to enable 1-phosphatidylinositol-4-phosphate 5-kinase activity. Predicted to be involved in regulation of phosphatidylinositol 3-kinase signaling. Predicted to act upstream of or within phosphatidylinositol biosynthetic process. Located in uropod. [provided by Alliance of Genome Resources, Apr 2022]

PIP5K1B Products (7)

mRNA Protein Name
NM_001278253.2 NP_001265182.1 phosphatidylinositol 4-phosphate 5-kinase type-1 beta isoform 3
NM_001376036.1 NP_001362965.1 phosphatidylinositol 4-phosphate 5-kinase type-1 beta isoform 2
NM_001376037.1 NP_001362966.1 phosphatidylinositol 4-phosphate 5-kinase type-1 beta isoform 2
NM_001376039.1 NP_001362968.1 phosphatidylinositol 4-phosphate 5-kinase type-1 beta isoform 2
NM_001376040.1 NP_001362969.1 phosphatidylinositol 4-phosphate 5-kinase type-1 beta isoform 3
NM_001376041.1 NP_001362970.1 phosphatidylinositol 4-phosphate 5-kinase type-1 beta isoform 3
NM_003558.4 NP_003549.1 phosphatidylinositol 4-phosphate 5-kinase type-1 beta isoform 2
Molecular Function GO Annotation Evidence 参考文献 由来
enables protein binding IPI
IPI: Inferred from physical interaction
20442317 GOA
Cellular Component GO Annotation Evidence 参考文献 由来
located in uropod IDA
IDA: Inferred from direct assay
20442317 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

PIP5K1B Protein Structure

PIP5K

PIP5K: Phosphatidylinositol-4-phosphate 5-Kinase (108 - 393)

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  • 500
  • 540 a.a.
Protein Preferred Names Protein Names

phosphatidylinositol 4-phosphate 5-kinase type-1 beta

  • PIP5K1-beta

関連疾患

Diseases Alias
Friedreich Ataxia
  • Friedreich Ataxia 1

  • FRDA

  • Friedreich Ataxia With Retained Reflexes

  • Frda1

  • Fa

  • Friedreich'S Ataxia

  • Hereditary Spinal Ataxia

  • Fa1

  • Friedreich'S Tabes

  • Hereditary Spinal Sclerosis

  • Spinocerebellar Ataxia, Friedreich

  • Friedreich Spinocerebellar Ataxia

  • Friedrich'S Ataxia

Friedreich Ataxia 2
  • FRDA2

  • Friedreich Ataxia, Type 2

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

生物種 Symbol 由来 ID
Bos taurus PIP5K1B VGNC VGNC:32911
Macaca mulatta PIP5K1B VGNC VGNC:76001
Mus musculus PIP5K1B MGD MGI:107930
Felis catus PIP5K1B VGNC VGNC:68862
Rattus norvegicus PIP5K1B RGD RGD:1310914
Canis familiaris PIP5K1B VGNC VGNC:44575
Others PIP5K1B NCBI