PAXBP1

PAXBP1
Identifikatori
Aliasi	PAXBP1
Vanjski ID-jevi	OMIM: 617621 MGI: 1914617 HomoloGene: 9604 GeneCards: PAXBP1
Lokacija gena (čovjek)
Hrom.	Hromosom 21 (čovjek)
Kraj	32,771,792 bp
Lokacija gena (miš)
Hrom.	Hromosom 16 (miš)
Kraj	90,841,431 bp
Obrazac RNK ekspresije
	; ;
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• GO:0000980 RNA polymerase II cis-regulatory region sequence-specific DNA binding; • transcription factor binding; • GO:0001131, GO:0001151, GO:0001130, GO:0001204 DNA-binding transcription factor activity; • GO:0001078, GO:0001214, GO:0001206 DNA-binding transcription repressor activity, RNA polymerase II-specific; • vezivanje sa DNK;
Ćelijska komponenta	• jedro; • citosol;
Biološki proces	• GO:0003257, GO:0010735, GO:1901228, GO:1900622, GO:1904488 positive regulation of transcription by RNA polymerase II; • regulation of skeletal muscle satellite cell proliferation; • GO:0009373 regulation of transcription, DNA-templated; • muscle organ development; • positive regulation of myoblast proliferation; • positive regulation of histone methylation; • transcription, DNA-templated; • GO:1901227 negative regulation of transcription by RNA polymerase II;
	Izvori:Amigo / QuickGO
Ortolozi
	94104
	67367
	ENSG00000159086; ENSG00000263141
	ENSMUSG00000022974
	Q9Y5B6
	P58501
	NM_013329; NM_016631; NM_058191; NM_145328
	NM_026110
	NP_037461; NP_057715
	NP_080386
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Homolog DNK-vezujućeg faktora GC-bogate sekvence jest protein koji je kod ljudi kodiran genom PAXBP1 sa hromosoma 21.^[5]^[6]^[7]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 917 aminokiselina, a molekulska težina 104.804 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
MFRKARRVNV	RKRNDSEEEE	RERDEEQEPP	PLLPPPGTGE	EAGPGGGDRA
PGGESLLGPG	PSPPSALTPG	LGAEAGGGFP	GGAEPGNGLK	PRKRPRENKE
VPRASLLSFQ	DEEEENEEVF	KVKKSSYSKK	IVKLLKKEYK	EDLEKSKIKT
ELNSSAESEQ	PLDKTGHVKD	TNQEDGVIIS	EHGEDEMDME	SEKEEEKPKT
GGAFSNALSS	LNVLRPGEIP	DAAFIHAARK	KRQMARELGD	FTPHDNEPGK
GRLVREDEND	ASDDEDDDEK	RRIVFSVKEK	SQRQKIAEEI	GIEGSDDDAL
VTGEQDEELS	RWEQEQIRKG	INIPQVQASQ	PAEVNMYYQN	TYQTMPYGSS
YGIPYSYTAY	GSSDAKSQKT	DNTVPFKTPS	NEMTPVTIDL	VKKQLKDRLD
SMKELHKTNR	QQHEKHLQSR	VDSTRAIERL	EGSSGGIGER	YKFLQEMRGY
VQDLLECFSE	KVPLINELES	AIHQLYKQRA	SRLVQRRQDD	IKDESSEFSS
HSNKALMAPN	LDSFGRDRAL	YQEHAKRRIA	EREARRTRRR	QAREQTGKMA
DHLEGLSSDD	EETSTDITNF	NLEKDRISKE	SGKVFEDVLE	SFYSIDCIKS
QFEAWRSKYY	TSYKDAYIGL	CLPKLFNPLI	RLQLLTWTPL	EAKCRDFENM
LWFESLLFYG	CEEREQEKDD	VDVALLPTIV	EKVILPKLTV	IAENMWDPFS
TTQTSRMVGI	TLKLINGYPS	VVNAENKNTQ	VYLKALLLRM	RRTLDDDVFM
PLYPKNVLEN	KNSGPYLFFQ	RQFWSSVKLL	GNFLQWYGIF	SNKTLQELSI
DGLLNRYILM	AFQNSEYGDD	SIKKAQNVIN	CFPKQWFMNL	KGERTISQLE
NFCRYLVHLA	DTIYRNSIGC	SDVEKRNARE	NIKQIVKLLA	SVRALDHAMS
VASDHNVKEF	KSLIEGK

Funkcija

Sličnost sa represorom transkripcije sugeriše da je proteinski proizvod ovog gena uključen u regulaciju transkripcije. Alternativna prerada proizvoda ovog gena rezultira u tri varijante transkripta koje kodiraju različite izoforme. Opisane su dodatne varijante transkripta, ali pune dužine njihove sekvence nisu određene.^[7]

Reference

^ ^a ^b ^c ENSG00000263141 GRCh38: Ensembl release 89: ENSG00000159086, ENSG00000263141 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000022974 - 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.
^ Zhang QH, Ye M, Wu XY, Ren SX, Zhao M, Zhao CJ, Fu G, Shen Y, Fan HY, Lu G, Zhong M, Xu XR, Han ZG, Zhang JW, Tao J, Huang QH, Zhou J, Hu GX, Gu J, Chen SJ, Chen Z (Nov 2000). "Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells". Genome Res. 10 (10): 1546–60. doi:10.1101/gr.140200. PMC 310934. PMID 11042152.
^ Reymond A, Friedli M, Henrichsen CN, Chapot F, Deutsch S, Ucla C, Rossier C, Lyle R, Guipponi M, Antonarakis SE (Nov 2001). "From PREDs and open reading frames to cDNA isolation: revisiting the human chromosome 21 transcription map". Genomics. 78 (1–2): 46–54. doi:10.1006/geno.2001.6640. PMID 11707072.
^ ^a ^b ^c "Entrez Gene: C21orf66 chromosome 21 open reading frame 66".

Dopunska literatura

Slavov D, Hattori M, Sakaki Y, et al. (2000). "Criteria for gene identification and features of genome organization: analysis of 6.5 Mb of DNA sequence from human chromosome 21". Gene. 247 (1–2): 215–32. doi:10.1016/S0378-1119(00)00089-5. PMID 10773462.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Beausoleil SA, Jedrychowski M, Schwartz D, et al. (2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proc. Natl. Acad. Sci. U.S.A. 101 (33): 12130–5. Bibcode:2004PNAS..10112130B. doi:10.1073/pnas.0404720101. PMC 514446. PMID 15302935.
Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
Hu YH, Warnatz HJ, Vanhecke D, et al. (2006). "Cell array-based intracellular localization screening reveals novel functional features of human chromosome 21 proteins". BMC Genomics. 7: 155. doi:10.1186/1471-2164-7-155. PMC 1526728. PMID 16780588.
Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983. S2CID 7827573.

Vanjski linkovi

Lokacija ljudskog genoma PAXBP1 i stranica sa detaljima o genu PAXBP1 u UCSC Genome Browseru.

[refGRCh38Ensembl-1] ENSG00000263141 GRCh38: Ensembl release 89: ENSG00000159086, ENSG00000263141 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000022974 - 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.

[pmid11042152-5] Zhang QH, Ye M, Wu XY, Ren SX, Zhao M, Zhao CJ, Fu G, Shen Y, Fan HY, Lu G, Zhong M, Xu XR, Han ZG, Zhang JW, Tao J, Huang QH, Zhou J, Hu GX, Gu J, Chen SJ, Chen Z (Nov 2000). "Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells". Genome Res. 10 (10): 1546–60. doi:10.1101/gr.140200. PMC 310934. PMID 11042152.

[pmid11707072-6] Reymond A, Friedli M, Henrichsen CN, Chapot F, Deutsch S, Ucla C, Rossier C, Lyle R, Guipponi M, Antonarakis SE (Nov 2001). "From PREDs and open reading frames to cDNA isolation: revisiting the human chromosome 21 transcription map". Genomics. 78 (1–2): 46–54. doi:10.1006/geno.2001.6640. PMID 11707072.

[entrez-7] "Entrez Gene: C21orf66 chromosome 21 open reading frame 66".

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