PIP5K1B

Last updated
PIP5K1B
Identifiers
Aliases PIP5K1B , MSS4, STM7, phosphatidylinositol-4-phosphate 5-kinase type 1 beta
External IDs OMIM: 602745 MGI: 107930 HomoloGene: 100644 GeneCards: PIP5K1B
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_008846

RefSeq (protein)

NP_032872

Location (UCSC) Chr 9: 68.71 – 69.01 Mb Chr 19: 24.27 – 24.53 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Phosphatidylinositol-4-phosphate 5-kinase type-1 beta is an enzyme that in humans is encoded by the PIP5K1B gene. [5] [6] [7]

Abnormal silencing of the PIP5K1B gene contributes to the cytoskeletal defects seen in Friedreich's ataxia. [8]

Related Research Articles

Phosphatidylinositol 3,5-bisphosphate is one of the seven phosphoinositides found in eukaryotic cell membranes. In quiescent cells, the PtdIns(3,5)P2 levels, typically quantified by HPLC, are the lowest amongst the constitutively present phosphoinositides. They are approximately 3 to 5-fold lower as compared to PtdIns3P and PtdIns5P levels, and more than 100-fold lower than the abundant PtdIns4P and PtdIns(4,5)P2. PtdIns(3,5)P2 was first reported to occur in mouse fibroblasts and budding yeast S. cerevisiae in 1997. In S. cerevisiae PtdIns(3,5)P2 levels increase dramatically during hyperosmotic shock. The response to hyperosmotic challenge is not conserved in most tested mammalian cells except for differentiated 3T3L1 adipocytes.

<span class="mw-page-title-main">Frataxin</span> Protein-coding gene in the species Homo sapiens

Frataxin is a protein that in humans is encoded by the FXN gene.

<span class="mw-page-title-main">PIK3R1</span>

Phosphatidylinositol 3-kinase regulatory subunit alpha is an enzyme that in humans is encoded by the PIK3R1 gene.

<span class="mw-page-title-main">PIK3R2</span> Protein-coding gene in the species Homo sapiens

Phosphatidylinositol 3-kinase regulatory subunit beta is an enzyme that in humans is encoded by the PIK3R2 gene.

<span class="mw-page-title-main">PIK3CB</span>

Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta isoform is an enzyme that in humans is encoded by the PIK3CB gene.

<span class="mw-page-title-main">PLCB2</span>

1-Phosphatidylinositol-4,5-bisphosphate phosphodiesterase beta-2 is an enzyme that in humans is encoded by the PLCB2 gene.

<span class="mw-page-title-main">PIK3C2A</span>

Phosphatidylinositol-4-phosphate 3-kinase C2 domain-containing alpha polypeptide is an enzyme that in humans is encoded by the PIK3C2A gene.

<span class="mw-page-title-main">PIK3C2B</span> Protein-coding gene in the species Homo sapiens

Phosphatidylinositol-4-phosphate 3-kinase C2 domain-containing beta polypeptide is an enzyme that in humans is encoded by the PIK3C2B gene.

<span class="mw-page-title-main">PI4KA</span>

Phosphatidylinositol 4-kinase alpha is an enzyme that in humans is encoded by the PI4KA gene.

<span class="mw-page-title-main">PIKFYVE</span>

PIKfyve, a FYVE finger-containing phosphoinositide kinase, is an enzyme that in humans is encoded by the PIKFYVE gene.

<span class="mw-page-title-main">PIP5K1C</span> Protein-coding gene in the species Homo sapiens

Phosphatidylinositol-4-phosphate 5-kinase type-1 gamma is an enzyme that in humans is encoded by the PIP5K1C gene.

<span class="mw-page-title-main">PIP4K2A</span> Kinase enzyme

Phosphatidylinositol-5-phosphate 4-kinase type-2 alpha is an enzyme that in humans is encoded by the PIP4K2A gene.

<span class="mw-page-title-main">Leukocyte receptor tyrosine kinase</span>

Leukocyte receptor tyrosine kinase is an enzyme that in humans is encoded by the LTK gene.

<span class="mw-page-title-main">PIP5K1A</span> Protein-coding gene in the species Homo sapiens

Phosphatidylinositol-4-phosphate 5-kinase type-1 alpha is an enzyme that in humans is encoded by the PIP5K1A gene.

<span class="mw-page-title-main">MTMR2</span>

Myotubularin-related protein 2 also known as phosphatidylinositol-3,5-bisphosphate 3-phosphatase or phosphatidylinositol-3-phosphate phosphatase is a protein that in humans is encoded by the MTMR2 gene.

<span class="mw-page-title-main">PIK3C2G</span>

Phosphatidylinositol-4-phosphate 3-kinase C2 domain-containing gamma polypeptide is an enzyme that in humans is encoded by the PIK3C2G gene.

<span class="mw-page-title-main">PI4K2A</span>

Phosphatidylinositol 4-kinase 2-alpha is an enzyme that in humans is encoded by the PI4K2A gene.

<span class="mw-page-title-main">PIP4K2B</span> Protein-coding gene in the species Homo sapiens

Phosphatidylinositol-5-phosphate 4-kinase type-2 beta is an enzyme that in humans is encoded by the PIP4K2B gene.

<span class="mw-page-title-main">PIK3R5</span> Protein-coding gene in the species Homo sapiens

Phosphoinositide 3-kinase regulatory subunit 5 is an enzyme that in humans is encoded by the PIK3R5 gene.

<span class="mw-page-title-main">Fig4</span>

Polyphosphoinositide phosphatase also known as phosphatidylinositol 3,5-bisphosphate 5-phosphatase or SAC domain-containing protein 3 (Sac3) is an enzyme that in humans is encoded by the FIG4 gene. Fig4 is an abbreviation for Factor-Induced Gene.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000107242 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000024867 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Pook MA, Carvajal JJ, Doudney K, Hillermann R, Chamberlain S (Jul 1997). "Exon-intron structure of a 2.7-kb transcript of the STM7 gene with phosphatidylinositol-4-phosphate 5-kinase activity". Genomics. 42 (1): 170–2. doi:10.1006/geno.1997.4726. PMID   9177790.
  6. Carvajal JJ, Pook MA, dos Santos M, Doudney K, Hillermann R, Minogue S, Williamson R, Hsuan JJ, Chamberlain S (Nov 1996). "The Friedreich's ataxia gene encodes a novel phosphatidylinositol-4- phosphate 5-kinase". Nat Genet. 14 (2): 157–62. doi:10.1038/ng1096-157. PMID   8841185. S2CID   6324358.
  7. "Entrez Gene: PIP5K1B phosphatidylinositol-4-phosphate 5-kinase, type I, beta".
  8. Bayot A, Reichman S, Lebon S, Csaba Z, Aubry L, Sterkers G, Husson I, Rak M, Rustin P (2013). "Cis-silencing of PIP5K1B evidenced in Friedreich's ataxia patient cells results in cytoskeleton anomalies". Hum. Mol. Genet. 22 (14): 2894–904. doi: 10.1093/hmg/ddt144 . PMID   23552101.

Further reading