Tip-1 beta fosfatidilinositol-4-fosfat 5-kinaze je enzim koji je kod ljudi kodiran genom PIP5K1B.[5][6][7]

PIP5K1B
Identifikatori
AliasiPIP5K1B
Vanjski ID-jeviOMIM: 602745 MGI: 107930 HomoloGene: 100644 GeneCards: PIP5K1B
Lokacija gena (čovjek)
Hromosom 9 (čovjek)
Hrom.Hromosom 9 (čovjek)[1]
Hromosom 9 (čovjek)
Genomska lokacija za PIP5K1B
Genomska lokacija za PIP5K1B
Bend9q21.11Početak68,705,240 bp[1]
Kraj69,009,176 bp[1]
Lokacija gena (miš)
Hromosom 19 (miš)
Hrom.Hromosom 19 (miš)[2]
Hromosom 19 (miš)
Genomska lokacija za PIP5K1B
Genomska lokacija za PIP5K1B
Bend19|19 BPočetak24,272,158 bp[2]
Kraj24,533,236 bp[2]
Obrazac RNK ekspresije
Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija transferase activity
nucleotide binding
GO:0001948, GO:0016582 protein binding
phosphatidylinositol phosphate kinase activity
ATP binding
kinase activity
1-phosphatidylinositol-4-phosphate 5-kinase activity
1-phosphatidylinositol-5-kinase activity
1-phosphatidylinositol-3-phosphate 5-kinase activity
1-phosphatidylinositol-3-phosphate 4-kinase activity
phosphatidylinositol-3,4-bisphosphate 5-kinase activity
Ćelijska komponenta uropod
membrana
Endomembranski sistem
citosol
Biološki proces phosphatidylinositol phosphate biosynthetic process
phosphatidylinositol metabolic process
Fosforilacija
phosphatidylinositol biosynthetic process
regulation of phosphatidylinositol 3-kinase signaling
Izvori:Amigo / QuickGO
Ortolozi
VrsteČovjekMiš
Entrez
Ensembl
UniProt
RefSeq (mRNK)
NM_001031687
NM_001278253
NM_003558
NM_001376036
NM_001376037

NM_001376039
NM_001376040
NM_001376041

NM_008846

RefSeq (bjelančevina)
NP_001265182
NP_003549
NP_001362965
NP_001362966
NP_001362968

NP_001362969
NP_001362970

NP_032872

Lokacija (UCSC)Chr 9: 68.71 – 69.01 MbChr 19: 24.27 – 24.53 Mb
PubMed pretraga[3][4]
Wikipodaci
Pogledaj/uredi – čovjekPogledaj/uredi – miš

Nenormalno utišavanje gena PIP5K1B doprinosi pojavi citoskeletnih defekata, kao što je Friedreichova ataksija.[8]

Aminokiselinska sekvenca uredi

Dužina polipeptidnog lanca je 540 aminokiselina, а molekulska težina 61.036 Da.[9]

1020304050
MSSAAENGEAAPGKQNEEKTYKKTASSAIKGAIQLGIGYTVGNLTSKPER
DVLMQDFYVVESVFLPSEGSNLTPAHHYPDFRFKTYAPLAFRYFRELFGI
KPDDYLYSICSEPLIELSNPGASGSLFFVTSDDEFIIKTVQHKEAEFLQK
LLPGYYMNLNQNPRTLLPKFYGLYCMQSGGINIRIVVMNNVLPRSMRMHF
TYDLKGSTYKRRASRKEREKSNPTFKDLDFLQDMHEGLYFDTETYNALMK
TLQRDCRVLESFKIMDYSLLLGIHFLDHSLKEKEEETPQNVPDAKRTGMQ
KVLYSTAMESIQGPGKSGDGIITENPDTMGGIPAKSHRGEKLLLFMGIID
ILQSYRLMKKLEHSWKALVYDGDTVSVHRPSFYADRFLKFMNSRVFKKIQ
ALKASPSKKRCNSIAALKATSQEIVSSISQEWKDEKRDLLTEGQSFSSLD
EEALGSRHRPDLVPSTPSLFEAASLATTISSSSLYVNEHYPHDRPTLYSN
SKGLPSSSTFTLEEGTIYLTAEPNTLEVQDDNASVLDVYL

Reference uredi

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000107242 - Ensembl, maj 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000024867 - Ensembl, maj 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.
  9. ^ "UniProt, O14986". Pristupljeno 11. 9. 2021.

Dopunska literatura uredi

Vankski linkovi uredi