CREBRF

CREBRF
Identifikatori
Aliasi	CREBRF
Vanjski ID-jevi	OMIM: 617109 MGI: 1924378 HomoloGene: 12672 GeneCards: CREBRF
Lokacija gena (čovjek)
Hrom.	Hromosom 5 (čovjek)
Kraj	173,139,284 bp
Lokacija gena (miš)
Hrom.	Hromosom 17 (miš)
Kraj	26,776,635 bp
Ontologija gena
Molekularna funkcija	• GO:0001131, GO:0001151, GO:0001130, GO:0001204 DNA-binding transcription factor activity; • GO:0001948, GO:0016582 vezivanje za proteine; • RNA polymerase II transcription regulatory region sequence-specific DNA binding; • GO:0001077, GO:0001212, GO:0001213, GO:0001211, GO:0001205 DNA-binding transcription activator activity, RNA polymerase II-specific; • GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific;
Ćelijska komponenta	• citoplazma; • nuclear body; • jedro; • nukleoplazma;
Biološki proces	• negative regulation of endoplasmic reticulum unfolded protein response; • positive regulation of prolactin signaling pathway; • response to unfolded protein; • GO:0009373 regulation of transcription, DNA-templated; • GO:1901227 negative regulation of transcription by RNA polymerase II; • GO:1903364 positive regulation of protein catabolic process; • maternal behavior; • negative regulation of glucocorticoid mediated signaling pathway; • positive regulation of intracellular transport; • transcription, DNA-templated; • response to endoplasmic reticulum stress; • positive regulation of protein transport; • endoplasmic reticulum unfolded protein response; • transcription by RNA polymerase II; • GO:0003257, GO:0010735, GO:1901228, GO:1900622, GO:1904488 positive regulation of transcription by RNA polymerase II;
	Izvori:Amigo / QuickGO
Ortolozi
	153222
	77128
	ENSG00000164463
	ENSMUSG00000048249
	Q8IUR6
	Q8CDG5
	NM_001168393; NM_001168394; NM_153607
	NM_029870
	NP_001161865; NP_001161866; NP_705835
	NP_084146
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Regulatorni faktor CREB3 jest protein koji je kod ljudi kodiran genom CREBRF.^[5]

U jednom istraživanju iz 2020., nađeno je da je CREBRF rs373863828 minor (A) alel povezan s povećanjem BMI, ali smanjenom prevalencijom dijabetesa tipa 2 u populacijama Maora i pacifičkog otočja. S obzirom na zajedničku etiologiju dijabetesa tipa 2 i gestacijskog dijabetesa (GDM), testirali su povezanost između varijante CREBRF rs373863828 i GDM.

Sproveli su prospektivnu kohortnu studiju o ženama iz Maora i pacifičkih otoka koje su ugniježđene u studiji o nutritivnoj intervenciji za trudnice s pretilošću. Žene su posmatrane u trudnoći od 12-17 sedmica i uključene u antropometrijska mjerenja i prikupljanje kožnih uzoraka za kasnije genetičko testiranje. GDM je dijagnosticiran sa 75 g OGTT-a u 24.-28. sedmici trudnoće prema kriterijima Međunarodne asocijacije za studije dijabetesa i trudnoće. Genotipizacija je izvedena PCR-om u stvarnom vremenu s prilagođenim CREBRF rs373863828 setom sondi. Povezanost između CREBRF-a rs373863828 i GDM-a zasebno je analizirana prema etničkoj skupini koristeći logističku regresiju, s procjenama efekata kombiniranim u meta-analizi.

Utvrđeno je da od 112 trudnica s pretilošću, 31 (28%) je nosilo CREBRF rs373863828 alel (A/G ili A/A), a 35 (31%) je razvilo GDM. Žene koje su nosile CREBRF rs373863828 alel nisu se razlikovale po BMI-u u poređenju sa nenositeljicama (G/G). Postojalo je peterostruko smanjenje vjerojatnoće GDM -a po alelu CREBRF -a rs373863828 (OR 0,19 [95% CI 0,05, 0,69], p = 0,01), neovisno o dobi, BMI -u i porodičnoj anamnezi dijabetesa (prilagođen OR 0,13 [95% CI 0,03, 0,53], p = 0,004). GDM je dijagnosticiran u 10% i 40% žena sa i bez alela CREBRF rs373863828 A (bez žena sa A/A genotipom koji je razvio GDM).

Zaključeno je da alel CREBRF rs373863828 (A) povezan sa smanjenom vjerovatnoćom nastanka GDM -a kod žena sa Māorija i Pacifika s pretilošću i može poboljšati predviđanje rizika od GDM-a.^[6]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 639 aminokiselina, а molekulska težina 72.149 Da.^[7]

C: Cistein

D: Asparaginska kiselina

E: Glutaminska kiselina

F: Fenilalanin

G: Glicin

H: Histidin

I: Izoleucin

K: Lizin

L: Leucin

M: Metionin

N: Asparagin

P: Prolin

Q: Glutamin

R: Arginin

S: Serin

T: Treonin

V: Valin

W: Triptofan

Y: Tirozin

10	20	30	40	50
MPQPSVSGMD	PPFGDAFRSH	TFSEQTLMST	DLLANSSDPD	FMYELDREMN
YQQNPRDNFL	SLEDCKDIEN	LESFTDVLDN	EGALTSNWEQ	WDTYCEDLTK
YTKLTSCDIW	GTKEVDYLGL	DDFSSPYQDE	EVISKTPTLA	QLNSEDSQSV
SDSLYYPDSL	FSVKQNPLPS	SFPGKKITSR	AAAPVCSSKT	LQAEVPLSDC
VQKASKPTSS	TQIMVKTNMY	HNEKVNFHVE	CKDYVKKAKV	KINPVQQSRP
LLSQIHTDAA	KENTCYCGAV	AKRQEKKGME	PLQGHATPAL	PFKETQELLL
SPLPQEGPGS	LAAGESSSLS	ASTSVSDSSQ	KKEEHNYSLF	VSDNLGEQPT
KCSPEEDEED	EEDVDDEDHD	EGFGSEHELS	ENEEEEEEEE	DYEDDKDDDI
SDTFSEPGYE	NDSVEDLKEV	TSISSRKRGK	RRYFWEYSEQ	LTPSQQERML
RPSEWNRDTL	PSNMYQKNGL	HHGKYAVKKS	RRTDVEDLTP	NPKKLLQIGN
ELRKLNKVIS	DLTPVSELPL	TARPRSRKEK	NKLASRACRL	KKKAQYEANK
VKLWGLNTEY	DNLLFVINSI	KQEIVNRVQN	PRDERGPNMG	QKLEILIKDT
LGLPVAGQTS	EFVNQVLEKT	AEGNPTGGLV	GLRIPTSKV

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000164463 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000048249 - Ensembl, maj 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: CREB3 regulatory factor". Pristupljeno 8. 10. 2016.
^ Mohanraj Krishnan, Rinki Murphy, Karaponi A M Okesene-Gafa, Maria Ji, John M D Thompson, Rennae S Taylor, Tony R Merriman, Lesley M E McCowan, Christopher J D McKinlay (2020): The Pacific-specific CREBRF rs373863828 allele protects against gestational diabetes mellitus in Māori and Pacific women with obesity. Diabetologia, 63(10):2169-2176;pmid: 32654027; doi:10.1007/s00125-020-05202-8
^ "UniProt, Q8IUR6" (jezik: engleski). Pristupljeno 13. 10. 2021.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000164463 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000048249 - 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.

[entrez-5] "Entrez Gene: CREB3 regulatory factor". Pristupljeno 8. 10. 2016.

[6] Mohanraj Krishnan, Rinki Murphy, Karaponi A M Okesene-Gafa, Maria Ji, John M D Thompson, Rennae S Taylor, Tony R Merriman, Lesley M E McCowan, Christopher J D McKinlay (2020): The Pacific-specific CREBRF rs373863828 allele protects against gestational diabetes mellitus in Māori and Pacific women with obesity. Diabetologia, 63(10):2169-2176;pmid: 32654027; doi:10.1007/s00125-020-05202-8

[UniProt-7] "UniProt, Q8IUR6" (jezik: engleski). Pristupljeno 13. 10. 2021.

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