LRIF1

LRIF1
Identifikatori
AliasiLRIF1
Vanjski ID-jeviOMIM: 615354 MGI: 2445214 HomoloGene: 10160 GeneCards: LRIF1
Lokacija gena (čovjek)
Hromosom 1 (čovjek)
Hrom.Hromosom 1 (čovjek)[1]
Hromosom 1 (čovjek)
Genomska lokacija za LRIF1
Genomska lokacija za LRIF1
Bend1p13.3Početak110,947,190 bp[1]
Kraj110,963,965 bp[1]
Lokacija gena (miš)
Hromosom 3 (miš)
Hrom.Hromosom 3 (miš)[2]
Hromosom 3 (miš)
Genomska lokacija za LRIF1
Genomska lokacija za LRIF1
Bend3|3 F2.3Početak106,592,303 bp[2]
Kraj106,643,893 bp[2]
Obrazac RNK ekspresije
Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija GO:0001948, GO:0016582 vezivanje za proteine
retinoic acid receptor binding
Ćelijska komponenta nuclear matrix
jedro
centar organizacije mikrotubula
Barrovo tijelo
hromosom
Biološki proces GO:0009373 regulation of transcription, DNA-templated
transcription, DNA-templated
dosage compensation by inactivation of X chromosome
Izvori:Amigo / QuickGO
Ortolozi
VrsteČovjekMiš
Entrez
Ensembl
UniProt
RefSeq (mRNK)

NM_001006945
NM_018372

NM_001039478
NM_001039488
NM_001286685
NM_028081
NM_177309

RefSeq (bjelančevina)

NP_001006946
NP_060842

NP_001034567
NP_001034577
NP_001273614
NP_082357

Lokacija (UCSC)Chr 1: 110.95 – 110.96 MbChr 3: 106.59 – 106.64 Mb
PubMed pretraga[3][4]
Wikipodaci
Pogledaj/uredi – čovjekPogledaj/uredi – miš

Ligand-ovisni jedarni receptorsko-interaktivni faktor 1 (LRIF1), poznat i kao receptorsko-interaktivni faktor 1 (RIF1) jest protein koji je kod ljudi kodiran genom LRIF1 sa hromosoma 1.[5][6]

Amiokiselininska sekvenca

Dužina polipeptidnog lanca je 769 aminokiselina, a molekulska težina 84.568 Da.[7]

1020304050
MSNNLRRVFLKPAEENSGNASRCVSGCMYQVVQTIGSDGKNLLQLLPIPK
SSGNLIPLVQSSVMSDALKGNTGKPVQVTFQTQISSSSTSASVQLPIFQP
ASSSNYFLTRTVDTSEKGRVTSVGTGNFSSSVSKVQSHGVKIDGLTMQTF
AVPPSTQKDSSFIVVNTQSLPVTVKSPVLPSGHHLQIPAHAEVKSVPASS
LPPSVQQKILATATTSTSGMVEASQMPTVIYVSPVNTVKNVVTKNFQNIY
PKPVTEIAKPVILNTTQIPKNVATETQLKGGQHSQAAPVKWIFQDNLQPF
TPSLVPVKSSNNVASKILKTFVDRKNLGDNTINMPPLSTIDPSGTRSKNM
PIKDNALVMFNGKVYLLAKKGTDVLPSQIDQQNSVSPDTPVRKDTLQTVS
SSPVTEISREVVNIVLAKSKSSQMETKSLSNTQLASMANLRAEKNKVEKP
SPSTTNPHMNQSSNYLKQSKTLFTNPIFPVGFSTGHNAPRKVTAVIYARK
GSVLQSIEKISSSVDATTVTSQQCVFRDQEPKIHNEMASTSDKGAQGRND
KKDSQGRSNKALHLKSDAEFKKIFGLTKDLRVCLTRIPDHLTSGEGFDSF
SSLVKSGTYKETEFMVKEGERKQQNFDKKRKAKTNKKMDHIKKRKTENAY
NAIINGEANVTGSQLLSSILPTSDVSQHNILTSHSKTRQEKRTEMEYYTH
EKQEKGTLNSNAAYEQSHFFNKNYTEDIFPVTPPELEETIRDEKIRRLKQ
VLREKEAALEEMRKKMHQK

Funkcija

Pokazalo se da LRIF1 stupa u interakciju sa proteinom SMCHD1, čija mutacija uzrokuje facioskapulohumerusnu mišićnu distrofiju tip 2 (FSHD2).[8] Mutacija samog LRIF1 također je umiješana u funkciju FSHD2.[8]

Reference

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000121931 - Ensembl, maj 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000056260 - 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. ^ Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD, Collins FS, et al. (decembar 2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proceedings of the National Academy of Sciences of the United States of America. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  6. ^ "Entrez Gene: C1orf103 chromosome 1 open reading frame 103".
  7. ^ "UniProt, Q5T3J3" (jezik: engleski). Pristupljeno 22. 11. 2021.
  8. ^ a b Hamanaka K, Šikrová D, Mitsuhashi S, Masuda H, Sekiguchi Y, Sugiyama A, et al. (maj 2020). "LRIF1 associated with facioscapulohumeral muscular dystrophy". Neurology. 94 (23): e2441–e2447. doi:10.1212/WNL.0000000000009617. PMC 7455367. PMID 32467133.

Dopunska literatura

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