Podjedinica alfa-2 pirol 4-hidroksilaze jest enzim koji je kod ljudi kodiran genom P4HA2 sa hromosoma 5.[5][6][7]

P4HA2
Identifikatori
AliasiP4HA2
Vanjski ID-jeviOMIM: 600608 MGI: 894286 HomoloGene: 55806 GeneCards: P4HA2
Lokacija gena (čovjek)
Hromosom 5 (čovjek)
Hrom.Hromosom 5 (čovjek)[1]
Hromosom 5 (čovjek)
Genomska lokacija za P4HA2
Genomska lokacija za P4HA2
Bend5q31.1Početak132,190,147 bp[1]
Kraj132,295,315 bp[1]
Lokacija gena (miš)
Hromosom 11 (miš)
Hrom.Hromosom 11 (miš)[2]
Hromosom 11 (miš)
Genomska lokacija za P4HA2
Genomska lokacija za P4HA2
Bend11 B1.3|11 32.13 cMPočetak53,990,921 bp[2]
Kraj54,022,491 bp[2]
Obrazac RNK ekspresije
Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija iron ion binding
electron transfer activity
L-ascorbic acid binding
oxidoreductase activity
GO:0001948, GO:0016582 vezivanje za proteine
oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen
dioxygenase activity
procollagen-proline 4-dioxygenase activity
GO:0050602 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen
vezivanje iona metala
Ćelijska komponenta Endoplazmatski retikulum
intracellular membrane-bounded organelle
endoplasmic reticulum lumen
nukleoplazma
citosol
Biološki proces peptidyl-proline hydroxylation
Lanac transporta elektrona
peptidyl-proline hydroxylation to 4-hydroxy-L-proline
Izvori:Amigo / QuickGO
Ortolozi
VrsteČovjekMiš
Entrez
Ensembl
UniProt
RefSeq (mRNK)
NM_001017974
NM_001142598
NM_001142599
NM_004199
NM_001365677

NM_001365678
NM_001365679
NM_001365680
NM_001365681

NM_001136076
NM_011031

RefSeq (bjelančevina)
NP_001017974
NP_001136070
NP_001136071
NP_004190
NP_001352606

NP_001352607
NP_001352608
NP_001352609
NP_001352610

NP_001129548
NP_035161

Lokacija (UCSC)Chr 5: 132.19 – 132.3 MbChr 11: 53.99 – 54.02 Mb
PubMed pretraga[3][4]
Wikipodaci
Pogledaj/uredi – čovjekPogledaj/uredi – miš

Aminokiselinska sekvenca

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Dužina polipeptidnog lanca je 535 aminokiselina, а molekulska težina 60.902 Da.[8]

1020304050
MKLWVSALLMAWFGVLSCVQAEFFTSIGHMTDLIYAEKELVQSLKEYILV
EEAKLSKIKSWANKMEALTSKSAADAEGYLAHPVNAYKLVKRLNTDWPAL
EDLVLQDSAAGFIANLSVQRQFFPTDEDEIGAAKALMRLQDTYRLDPGTI
SRGELPGTKYQAMLSVDDCFGMGRSAYNEGDYYHTVLWMEQVLKQLDAGE
EATTTKSQVLDYLSYAVFQLGDLHRALELTRRLLSLDPSHERAGGNLRYF
EQLLEEEREKTLTNQTEAELATPEGIYERPVDYLPERDVYESLCRGEGVK
LTPRRQKRLFCRYHHGNRAPQLLIAPFKEEDEWDSPHIVRYYDVMSDEEI
ERIKEIAKPKLARATVRDPKTGVLTVASYRVSKSSWLEEDDDPVVARVNR
RMQHITGLTVKTAELLQVANYGVGGQYEPHFDFSRNDERDTFKHLGTGNR
VATFLNYMSDVEAGGATVFPDLGAAIWPKKGTAVFWYNLLRSGEGDYRTR
HAACPVLVGCKWVSNKWFHERGQEFLRPCGSTEVD

Funkcija

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Ovaj gen kodira komponentu prolil 4-hidroksilaza, ključnog enzima u sintezi kolagena koji se sastoji od po dvije identične alfa i beta podjedinice. Kodirani protein jedna je od nekoliko različitih tipova alfa podjedinica i pruža najveći dio katalitskog mjesta aktivnog enzima. U kolagenu i srodnim proteinima, prolil 4-hidroksilaza katalizira stvaranje 4-hidroksiprolina, koji je neophodan za pravilno trodimenzijsko savijanje novosintetiziranih prokolagenih lanaca. Opisane su alternativno prerađene varijante transkripta koje kodiraju različite izoforme.[7]

Reference

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000072682 - Ensembl, maj 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000018906 - 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. ^ Annunen P, Helaakoski T, Myllyharju J, Veijola J, Pihlajaniemi T, Kivirikko KI (Aug 1997). "Cloning of the human prolyl 4-hydroxylase alpha subunit isoform alpha(II) and characterization of the type II enzyme tetramer. The alpha(I) and alpha(II) subunits do not form a mixed alpha(I)alpha(II)beta2 tetramer". J Biol Chem. 272 (28): 17342–8. doi:10.1074/jbc.272.28.17342. PMID 9211872.
  6. ^ Frazer KA, Ueda Y, Zhu Y, Gifford VR, Garofalo MR, Mohandas N, Martin CH, Palazzolo MJ, Cheng JF, Rubin EM (Aug 1997). "Computational and biological analysis of 680 kb of DNA sequence from the human 5q31 cytokine gene cluster region". Genome Res. 7 (5): 495–512. doi:10.1101/gr.7.5.495. PMID 9149945.
  7. ^ a b "Entrez Gene: P4HA2 procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II".
  8. ^ "UniProt, O15460" (jezik: engleski). Pristupljeno 18. 10. 2021.

Dopunska literatura

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Vanjski linkovi

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