LRIF1
entrez
55791
canonical
uniprot
Q5T3J3
canonical
ensembl
ENSG00000121931
resolver
ensp
ENSP00000358778
resolver
ensp
ENSP00000432290
resolver
ensp
ENSP00000564565
resolver
genesymbol
LRIF1
resolver
genesymbol_syn
C1orf103
resolver
genesymbol_syn
RIF1
resolver
hgnc
HGNC:30299
resolver
uniprot
Q86XS4
resolver
uniprot
Q8N3B6
resolver
uniprot
Q96HT4
resolver
uniprot
Q9NUM5
resolver
uniprot
Q9NV32
resolver
uniprot_entry
LRIF1_HUMAN
resolver
uniprot_sec
Q86XS4
resolver
uniprot_sec
Q8N3B6
resolver
uniprot_sec
Q96HT4
resolver
uniprot_sec
Q9NUM5
resolver
uniprot_sec
Q9NV32
resolver
amino_acid_sequence
MSNNLRRVFLKPAEENSGNASRCVSGCMYQVVQTIGSDGKNLLQLLPIPKSSGNLIPLVQSSVMSDALKGNTGKPVQVTFQTQISSSSTSASVQLPIFQPASSSNYFLTRTVDTSEKGRVTSVGTGNFSSSVSKVQSHGVKIDGLTMQTFAVPPSTQKDSSFIVVNTQSLPVTVKSPVLPSGHHLQIPAHAEVKSVPASSLPPSVQQKILATATTSTSGMVEASQMPTVIYVSPVNTVKNVVTKNFQNIYPKPVTEIAKPVILNTTQIPKNVATETQLKGGQHSQAAPVKWIFQDNLQPFTPSLVPVKSSNNVASKILKTFVDRKNLGDNTINMPPLSTIDPSGTRSKNMPIKDNALVMFNGKVYLLAKKGTDVLPSQIDQQNSVSPDTPVRKDTLQTVSSSPVTEISREVVNIVLAKSKSSQMETKSLSNTQLASMANLRAEKNKVEKPSPSTTNPHMNQSSNYLKQSKTLFTNPIFPVGFSTGHNAPRKVTAVIYARKGSVLQSIEKISSSVDATTVTSQQCVFRDQEPKIHNEMASTSDKGAQGRNDKKDSQGRSNKALHLKSDAEFKKIFGLTKDLRVCLTRIPDHLTSGEGFDSFSSLVKSGTYKETEFMVKEGERKQQNFDKKRKAKTNKKMDHIKKRKTENAYNAIINGEANVTGSQLLSSILPTSDVSQHNILTSHSKTRQEKRTEMEYYTHEKQEKGTLNSNAAYEQSHFFNKNYTEDIFPVTPPELEETIRDEKIRRLKQVLREKEAALEEMRKKMHQK
uniprot
proteins
disease_involvement
DISEASE: Facioscapulohumeral muscular dystrophy 3, digenic (FSHD3) [MIM:619477]: A form of facioscapulohumeral muscular dystrophy, a degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. FSHD3 is a digenic form characterized by adult onset of proximal muscle weakness affecting the face, neck, scapular muscles, and upper and lower limbs. Muscle involvement is usually asymmetric, and other muscle groups may become involved with progression of the disease. {ECO:0000269|PubMed:32467133}. Note=The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry. The disease is caused by a LRIF1 homozygous variant resulting in loss of isoform 1, in the presence of a haplotype on chromosome 4 permissive for chromatin relaxation of the D4Z4 macrosatellite and inappropriate DUX4 expression. Deregulated expression of DUX4 in skeletal muscle can lead to cell death. {ECO:0000269|PubMed:32467133}.
uniprot
proteins
function
FUNCTION: Together with SMCHD1, involved in chromosome X inactivation in females by promoting the compaction of heterochromatin (PubMed:23542155). Also able to repress the ligand-induced transcriptional activity of retinoic acid receptor alpha (RARA), possibly through direct recruitment of histone deacetylases (PubMed:17455211). Also required for silencing of the DUX4 locus in somatic cells (PubMed:32467133). {ECO:0000269|PubMed:17455211, ECO:0000269|PubMed:23542155, ECO:0000269|PubMed:32467133}.
uniprot
proteins
mass_dalton
84568
uniprot
proteins
mutagenesis
MUTAGEN 582..584; /note="VCL->DCE: Abolishes interaction with HP1 (CBX1/HP1-beta, CBX3/HP1-gamma and CBX5/HP1-alpha)."; /evidence="ECO:0000269|PubMed:23542155"; MUTAGEN 628..630; /note="KKR->AAA: Slightly reduces nuclear localization."; /evidence="ECO:0000269|PubMed:17455211"; MUTAGEN 642..644; /note="KKR->AAA: Abolishes nuclear localization."; /evidence="ECO:0000269|PubMed:17455211
uniprot
proteins
protein_family
LRIF1 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17455211
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23542155
uniprot
proteins
pubmed
25218447
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
32467133
uniprot
proteins
sequence_length
769
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Chromosome {ECO:0000269|PubMed:23542155}. Nucleus matrix {ECO:0000269|PubMed:17455211}. Note=Localizes to Barr body; recruited by SMCHD1. {ECO:0000269|PubMed:23542155}.
uniprot
proteins