RLIM
entrez
51132
canonical
uniprot
Q9NVW2
canonical
ensembl
ENSG00000131263
resolver
ensp
ENSP00000253571
resolver
ensp
ENSP00000328059
resolver
genesymbol
RLIM
resolver
genesymbol_syn
RNF12
resolver
hgnc
HGNC:13429
resolver
uniprot
B2RBQ1
resolver
uniprot
D3DTE0
resolver
uniprot
Q96D38
resolver
uniprot
Q9Y598
resolver
uniprot_entry
RNF12_HUMAN
resolver
uniprot_sec
B2RBQ1
resolver
uniprot_sec
D3DTE0
resolver
uniprot_sec
Q96D38
resolver
uniprot_sec
Q9Y598
resolver
amino_acid_sequence
MENSDSNDKGSGDQSAAQRRSQMDRLDREEAFYQFVNNLSEEDYRLMRDNNLLGTPGESTEEELLRRLQQIKEGPPPQNSDENRGGDSSDDVSNGDSIIDWLNSVRQTGNTTRSGQRGNQSWRAVSRTNPNSGDFRFSLEINVNRNNGSQNSENENEPSARRSSGENVENNSQRQVENPRSESTSARPSRSERNSTEALTEVPPTRGQRRARSRSPDHRRTRARAERSRSPLHPMSEIPRRSHHSISSQTFEHPLVNETEGSSRTRHHVTLRQQISGPELLSRGLFAASGTRNASQGAGSSDTAASGESTGSGQRPPTIVLDLQVRRVRPGEYRQRDSIASRTRSRSQTPNNTVTYESERGGFRRTFSRSERAGVRTYVSTIRIPIRRILNTGLSETTSVAIQTMLRQIMTGFGELSYFMYSDSDSEPTGSVSNRNMERAESRSGRGGSGGGSSSGSSSSSSSSSSSSSSSSSSSSPSSSSGGESSETSSDLFEGSNEGSSSSGSSGARREGRHRAPVTFDESGSLPFLSLAQFFLLNEDDDDQPRGLTKEQIDNLAMRSFGENDALKTCSVCITEYTEGNKLRKLPCSHEYHVHCIDRWLSENSTCPICRRAVLASGNRESVV
uniprot
proteins
disease_involvement
DISEASE: Tonne-Kalscheuer syndrome (TOKAS) [MIM:300978]: An X-linked recessive disorder characterized by global developmental delay apparent from early infancy, impaired intellectual development, speech delay, behavioral abnormalities, abnormal gait, dysmorphic facial features, limb anomalies, and urogenital abnormalities with hypogenitalism. A subset of more severely affected males develop congenital diaphragmatic hernia in utero, which may result in perinatal or premature death. Carrier females may have very mild skeletal or hormonal abnormalities. {ECO:0000269|PubMed:25644381, ECO:0000269|PubMed:25735484, ECO:0000269|PubMed:29728705, ECO:0000269|PubMed:33953269, ECO:0000269|PubMed:38849204}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.3.2.27
uniprot
proteins
function
FUNCTION: E3 ubiquitin-protein ligase that acts as a negative coregulator for LIM homeodomain transcription factors by mediating the ubiquitination and subsequent degradation of LIM cofactors LDB1 and LDB2 and by mediating the recruitment the SIN3a/histone deacetylase corepressor complex (PubMed:29742418, PubMed:33953269). Ubiquitination and degradation of LIM cofactors LDB1 and LDB2 allows DNA-bound LIM homeodomain transcription factors to interact with other protein partners such as RLIM. Plays a role in telomere length-mediated growth suppression by mediating the ubiquitination and degradation of TERF1. By targeting ZFP42/REX1 for degradation, acts as an activator of random inactivation of X chromosome in the embryo, a stochastic process in which one X chromosome is inactivated to minimize sex-related dosage differences of X-encoded genes in somatic cells of female placental mammals. E3 ubiquitin-protein ligase is required for proper regulation of neural cell differentiation from embryonic stem cells (By similarity). {ECO:0000250|UniProtKB:Q9WTV7, ECO:0000269|PubMed:19164295, ECO:0000269|PubMed:19945382, ECO:0000269|PubMed:29728705, ECO:0000269|PubMed:29742418, ECO:0000269|PubMed:33953269}.
uniprot
proteins
mass_dalton
68549
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein ubiquitination.
uniprot
proteins
protein_family
RNF12 family
uniprot
proteins
pubmed
10508479
uniprot
proteins
pubmed
11013082
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19117995
uniprot
proteins
pubmed
19164295
uniprot
proteins
pubmed
19945382
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25644381
uniprot
proteins
pubmed
25735484
uniprot
proteins
pubmed
25787250
uniprot
proteins
pubmed
29728705
uniprot
proteins
pubmed
29742418
uniprot
proteins
pubmed
33953269
uniprot
proteins
pubmed
38849204
uniprot
proteins
sequence_length
624
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:19117995, ECO:0000269|PubMed:19164295, ECO:0000269|PubMed:29742418, ECO:0000269|PubMed:33953269}.
uniprot
proteins