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PAXBP1

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PAXBP1
Identifikatori
AliasiPAXBP1
Vanjski ID-jeviOMIM: 617621 MGI: 1914617 HomoloGene: 9604 GeneCards: PAXBP1
Lokacija gena (čovjek)
Hromosom 21 (čovjek)
Hrom.Hromosom 21 (čovjek)[1]
Hromosom 21 (čovjek)
Genomska lokacija za PAXBP1
Genomska lokacija za PAXBP1
Bend21q22.11Početak32,733,899 bp[1]
Kraj32,771,792 bp[1]
Lokacija gena (miš)
Hromosom 16 (miš)
Hrom.Hromosom 16 (miš)[2]
Hromosom 16 (miš)
Genomska lokacija za PAXBP1
Genomska lokacija za PAXBP1
Bend16|16 C3.3Početak90,810,925 bp[2]
Kraj90,841,431 bp[2]
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
VrsteČovjekMiš
Entrez
Ensembl
UniProt
RefSeq (mRNK)

NM_013329
NM_016631
NM_058191
NM_145328

NM_026110

RefSeq (bjelančevina)

NP_037461
NP_057715

NP_080386

Lokacija (UCSC)Chr 21: 32.73 – 32.77 MbChr 16: 90.81 – 90.84 Mb
PubMed pretraga[3][4]
Wikipodaci
Pogledaj/uredi – čovjekPogledaj/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

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Dužina polipeptidnog lanca je 917 aminokiselina, a molekulska težina 104.804 Da.[7]

1020304050
MFRKARRVNVRKRNDSEEEERERDEEQEPPPLLPPPGTGEEAGPGGGDRA
PGGESLLGPGPSPPSALTPGLGAEAGGGFPGGAEPGNGLKPRKRPRENKE
VPRASLLSFQDEEEENEEVFKVKKSSYSKKIVKLLKKEYKEDLEKSKIKT
ELNSSAESEQPLDKTGHVKDTNQEDGVIISEHGEDEMDMESEKEEEKPKT
GGAFSNALSSLNVLRPGEIPDAAFIHAARKKRQMARELGDFTPHDNEPGK
GRLVREDENDASDDEDDDEKRRIVFSVKEKSQRQKIAEEIGIEGSDDDAL
VTGEQDEELSRWEQEQIRKGINIPQVQASQPAEVNMYYQNTYQTMPYGSS
YGIPYSYTAYGSSDAKSQKTDNTVPFKTPSNEMTPVTIDLVKKQLKDRLD
SMKELHKTNRQQHEKHLQSRVDSTRAIERLEGSSGGIGERYKFLQEMRGY
VQDLLECFSEKVPLINELESAIHQLYKQRASRLVQRRQDDIKDESSEFSS
HSNKALMAPNLDSFGRDRALYQEHAKRRIAEREARRTRRRQAREQTGKMA
DHLEGLSSDDEETSTDITNFNLEKDRISKESGKVFEDVLESFYSIDCIKS
QFEAWRSKYYTSYKDAYIGLCLPKLFNPLIRLQLLTWTPLEAKCRDFENM
LWFESLLFYGCEEREQEKDDVDVALLPTIVEKVILPKLTVIAENMWDPFS
TTQTSRMVGITLKLINGYPSVVNAENKNTQVYLKALLLRMRRTLDDDVFM
PLYPKNVLENKNSGPYLFFQRQFWSSVKLLGNFLQWYGIFSNKTLQELSI
DGLLNRYILMAFQNSEYGDDSIKKAQNVINCFPKQWFMNLKGERTISQLE
NFCRYLVHLADTIYRNSIGCSDVEKRNARENIKQIVKLLASVRALDHAMS
VASDHNVKEFKSLIEGK

Funkcija

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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

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  1. ^ a b c ENSG00000263141 GRCh38: Ensembl release 89: ENSG00000159086, ENSG00000263141 - Ensembl, maj 2017
  2. ^ a b c 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.
  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.
  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.
  7. ^ a b c "Entrez Gene: C21orf66 chromosome 21 open reading frame 66".

Dopunska literatura

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Vanjski linkovi

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