RAI1 je transkripcijski faktor pridružen Smith–Magenisovom sindromu, u slučajevima kada osobe imaju delecije gena, Potocki–Lupskijev sindrom i duplikaciju. Poznat je kao protein koji je iducuran retinojskom kiselinom 1.

RAI1
Identifikatori
AliasiRAI1
Vanjski ID-jeviOMIM: 607642 MGI: 103291 HomoloGene: 7508 GeneCards: RAI1
Lokacija gena (čovjek)
Hromosom 17 (čovjek)
Hrom.Hromosom 17 (čovjek)[1]
Hromosom 17 (čovjek)
Genomska lokacija za RAI1
Genomska lokacija za RAI1
Bend17p11.2Početak17,681,458 bp[1]
Kraj17,811,453 bp[1]
Lokacija gena (miš)
Hromosom 11 (miš)
Hrom.Hromosom 11 (miš)[2]
Hromosom 11 (miš)
Genomska lokacija za RAI1
Genomska lokacija za RAI1
Bend11|11 B1.3-B2Početak60,105,013 bp[2]
Kraj60,199,197 bp[2]
Ontologija gena
Molekularna funkcija GO:0001948, GO:0016582 protein binding
metal ion binding
GO:0001131, GO:0001151, GO:0001130, GO:0001204 DNA-binding transcription factor activity
Ćelijska komponenta citoplazma
mitohondrija
Nukleoplazma
Jedro
Biološki proces GO:0060469, GO:0009371 positive regulation of transcription, DNA-templated
skeletal system development
negative regulation of multicellular organism growth
GO:0044324, GO:0003256, GO:1901213, GO:0046019, GO:0046020, GO:1900094, GO:0061216, GO:0060994, GO:1902064, GO:0003258, GO:0072212 regulation of transcription by RNA polymerase II
circadian regulation of gene expression
rhythmic process
GO:0003257, GO:0010735, GO:1901228, GO:1900622, GO:1904488 positive regulation of transcription by RNA polymerase II
Izvori:Amigo / QuickGO
Ortolozi
VrsteČovjekMiš
Entrez
Ensembl
UniProt
RefSeq (mRNK)

NM_030665
NM_017574
NM_152256

NM_001037764
NM_009021

RefSeq (bjelančevina)

NP_109590

NP_001032853
NP_033047

Lokacija (UCSC)Chr 17: 17.68 – 17.81 MbChr 11: 60.11 – 60.2 Mb
PubMed pretraga[3][4]
Wikipodaci
Pogledaj/uredi – čovjekPogledaj/uredi – miš

Dužina polipeptidnog lanca je 1.906 aminokiselina, a molekulska težina 203.352 Da[5].

Aminokiselinska sekvenca

Simboli
1020304050
MQSFRERCGFHGKQQNYQQTSQETSRLENYRQPSQAGLSCDRQRLLAKDY
YNPQPYPSYEGGAGTPSGTAAAVAADKYHRGSKALPTQQGLQGRPAFPGY
GVQDSSPYPGRYAGEESLQAWGAPQPPPPQPQPLPAGVAKYDENLMKKTA
VPPSRQYAEQGAQVPFRTHSLHVQQPPPPQQPLAYPKLQRQKLQNDIASP
LPFPQGTHFPQHSQSFPTSSTYSSSVQGGGQGAHSYKSCTAPTAQPHDRP
LTASSSLAPGQRVQNLHAYQSGRLSYDQQQQQQQQQQQQQQALQSRHHAQ
ETLHYQNLAKYQHYGQQGQGYCQPDAAVRTPEQYYQTFSPSSSHSPARSV
GRSPSYSSTPSPLMPNLENFPYSQQPLSTGAFPAGITDHSHFMPLLNPSP
TDATSSVDTQAGNCKPLQKDKLPENLLSDLSLQSLTALTSQVENISNTVQ
QLLLSKAAVPQKKGVKNLVSRTPEQHKSQHCSPEGSGYSAEPAGTPLSEP
PSSTPQSTHAEPQEADYLSGSEDPLERSFLYCNQARGSPARVNSNSKAKP
ESVSTCSVTSPDDMSTKSDDSFQSLHGSLPLDSFSKFVAGERDCPRLLLS
ALAQEDLASEILGLQEAIGEKADKAWAEAPSLVKDSSKPPFSLENHSACL
DSVAKSAWPRPGEPEALPDSLQLDKGGNAKDFSPGLFEDPSVAFATPDPK
KTTGPLSFGTKPTLGVPAPDPTTAAFDCFPDTTAASSADSANPFAWPEEN
LGDACPRWGLHPGELTKGLEQGGKASDGISKGDTHEASACLGFQEEDPPG
EKVASLPGDFKQEEVGGVKEEAGGLLQCPEVAKADRWLEDSRHCCSTADF
GDLPLLPPTSRKEDLEAEEEYSSLCELLGSPEQRPGMQDPLSPKAPLICT
KEEVEEVLDSKAGWGSPCHLSGESVILLGPTVGTESKVQSWFESSLSHMK
PGEEGPDGERAPGDSTTSDASLAQKPNKPAVPEAPIAKKEPVPRGKSLRS
RRVHRGLPEAEDSPCRAPVLPKDLLLPESCTGPPQGQMEGAGAPGRGASE
GLPRMCTRSLTALSEPRTPGPPGLTTTPAPPDKLGGKQRAAFKSGKRVGK
PSPKAASSPSNPAALPVASDSSPMGSKTKETDSPSTPGKDQRSMILRSRT
KTQEIFHSKRRRPSEGRLPNCRATKKLLDNSHLPATFKVSSSPQKEGRVS
QRARVPKPGAGSKLSDRPLHALKRKSAFMAPVPTKKRNLVLRSRSSSSSN
ASGNGGDGKEERPEGSPTLFKRMSSPKKAKPTKGNGEPATKLPPPETPDA
CLKLASRAAFQGAMKTKVLPPRKGRGLKLEAIVQKITSPSLKKFACKAPG
ASPGNPLSPSLSDKDRGLKGAGGSPVGVEEGLVNVGTGQKLPTSGADPLC
RNPTNRSLKGKLMNSKKLSSTDCFKTEAFTSPEALQPGGTALAPKKRSRK
GRAGAHGLSKGPLEKRPYLGPALLLTPRDRASGTQGASEDNSGGGGKKPK
MEELGLASQPPEGRPCQPQTRAQKQPGHTNYSSYSKRKRLTRGRAKNTTS
SPCKGRAKRRRQQQVLPLDPAEPEIRLKYISSCKRLRSDSRTPAFSPFVR
VEKRDAFTTICTVVNSPGDAPKPHRKPSSSASSSSSSSSFSLDAAGASLA
TLPGGSILQPRPSLPLSSTMHLGPVVSKALSTSCLVCCLCQNPANFKDLG
DLCGPYYPEHCLPKKKPKLKEKVRPEGTCEEASLPLERTLKGPECAAAAT
AGKPPRPDGPADPAKQGPLRTSARGLSRRLQSCYCCDGREDGGEEAAPAD
KGRKHECSKEAPAEPGGEAQEHWVHEACAVWTGGVYLVAGKLFGLQEAMK
VAVDMMCSSCQEAGATIGCCHKGCLHTYHYPCASDAGCIFIEENFSLKCP
KHKRLP

Vanjski linkovi uredi

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000108557 - Ensembl, maj 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000062115 - 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. ^ "UniProt, Q7Z5J4". Pristupljeno 15. 6. 2021.