LRIF1

LRIF1
Identifikatori
Aliasi	LRIF1
Vanjski ID-jevi	OMIM: 615354 MGI: 2445214 HomoloGene: 10160 GeneCards: LRIF1
Lokacija gena (čovjek)
Hrom.	Hromosom 1 (čovjek)
Kraj	110,963,965 bp
Lokacija gena (miš)
Hrom.	Hromosom 3 (miš)
Kraj	106,643,893 bp
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
	55791
	321000
	ENSG00000121931
	ENSMUSG00000056260
	Q5T3J3
	Q8CDD9
	NM_001006945; NM_018372
	NM_001039478; NM_001039488; NM_001286685; NM_028081; NM_177309
	NP_001006946; NP_060842
	NP_001034567; NP_001034577; NP_001273614; NP_082357
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/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]

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
MSNNLRRVFL	KPAEENSGNA	SRCVSGCMYQ	VVQTIGSDGK	NLLQLLPIPK
SSGNLIPLVQ	SSVMSDALKG	NTGKPVQVTF	QTQISSSSTS	ASVQLPIFQP
ASSSNYFLTR	TVDTSEKGRV	TSVGTGNFSS	SVSKVQSHGV	KIDGLTMQTF
AVPPSTQKDS	SFIVVNTQSL	PVTVKSPVLP	SGHHLQIPAH	AEVKSVPASS
LPPSVQQKIL	ATATTSTSGM	VEASQMPTVI	YVSPVNTVKN	VVTKNFQNIY
PKPVTEIAKP	VILNTTQIPK	NVATETQLKG	GQHSQAAPVK	WIFQDNLQPF
TPSLVPVKSS	NNVASKILKT	FVDRKNLGDN	TINMPPLSTI	DPSGTRSKNM
PIKDNALVMF	NGKVYLLAKK	GTDVLPSQID	QQNSVSPDTP	VRKDTLQTVS
SSPVTEISRE	VVNIVLAKSK	SSQMETKSLS	NTQLASMANL	RAEKNKVEKP
SPSTTNPHMN	QSSNYLKQSK	TLFTNPIFPV	GFSTGHNAPR	KVTAVIYARK
GSVLQSIEKI	SSSVDATTVT	SQQCVFRDQE	PKIHNEMAST	SDKGAQGRND
KKDSQGRSNK	ALHLKSDAEF	KKIFGLTKDL	RVCLTRIPDH	LTSGEGFDSF
SSLVKSGTYK	ETEFMVKEGE	RKQQNFDKKR	KAKTNKKMDH	IKKRKTENAY
NAIINGEANV	TGSQLLSSIL	PTSDVSQHNI	LTSHSKTRQE	KRTEMEYYTH
EKQEKGTLNS	NAAYEQSHFF	NKNYTEDIFP	VTPPELEETI	RDEKIRRLKQ
VLREKEAALE	EMRKKMHQK

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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000121931 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000056260 - 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.
^ 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.
^ "Entrez Gene: C1orf103 chromosome 1 open reading frame 103".
^ "UniProt, Q5T3J3" (jezik: engleski). Pristupljeno 22. 11. 2021.
^ ^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

Goehler H, Lalowski M, Stelzl U, Waelter S, Stroedicke M, Worm U, et al. (septembar 2004). "A protein interaction network links GIT1, an enhancer of huntingtin aggregation, to Huntington's disease". Molecular Cell. 15 (6): 853–65. doi:10.1016/j.molcel.2004.09.016. PMID 15383276.
Stelzl U, Worm U, Lalowski M, Haenig C, Brembeck FH, Goehler H, et al. (septembar 2005). "A human protein-protein interaction network: a resource for annotating the proteome". Cell. 122 (6): 957–68. doi:10.1016/j.cell.2005.08.029. hdl:11858/00-001M-0000-0010-8592-0. PMID 16169070. S2CID 8235923.
Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, et al. (oktobar 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.

Kategorije

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000121931 - Ensembl, maj 2017

[refGRCm38Ensembl-2] 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.

[pmid12477932-5] 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.

[entrez-6] "Entrez Gene: C1orf103 chromosome 1 open reading frame 103".

[UniProt-7] "UniProt, Q5T3J3" (jezik: engleski). Pristupljeno 22. 11. 2021.

[Hamanaka2020_FSHD-8] 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.

[1]

[2]

[3]

[4]

[5]

[6]

[7]

[8]

LRIF1

Amiokiselininska sekvenca

Funkcija

Reference

Dopunska literatura

Suggest as cover photo

Thank you for helping!

Install Wikiwand

Don't forget to rate us

Tell your friends about Wikiwand!

Enjoying Wikiwand?

Tell your friends and spread the love:

Your preferred languages

All languages

Follow Us

Don't forget to rate us

Our magic isn't perfect

Thank you for helping!

Oh no, there's been an error