RLIM (ring finger protein, LIM domain interacting)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 51132
Gene name Ring finger protein, LIM domain interacting
Gene symbol RLIM
Synonyms (NCBI Gene)
MRX61NY-REN-43RNF12TOKAS
Chromosome X
Chromosome location Xq13.2
Summary The protein encoded by this gene is a RING-H2 zinc finger protein. It has been shown to be an E3 ubiquitin protein ligase that targets LIM domain binding 1 (LDB1/CLIM), and causes proteasome-dependent degradation of LDB1. This protein and LDB1 are co-repr
SNPs SNP information provided by dbSNP.
9
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (9)
SNP ID Visualize variation Clinical significance Consequence
rs786205133 T>C Likely-pathogenic, pathogenic Missense variant, coding sequence variant
rs1569309449 G>A Pathogenic Coding sequence variant, missense variant
rs1569309459 G>A Pathogenic Coding sequence variant, missense variant
rs1569309460 C>T Pathogenic Coding sequence variant, missense variant
rs1569309474 G>C Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
1640
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1640)
miRTarBase ID miRNA Experiments Reference
MIRT048396 hsa-miR-100-5p CLASH 23622248
MIRT047752 hsa-miR-10a-5p CLASH 23622248
MIRT046403 hsa-miR-15b-5p CLASH 23622248
MIRT044990 hsa-miR-186-5p CLASH 23622248
MIRT714107 hsa-miR-7849-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (29)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0003714 Function Transcription corepressor activity NAS 11013082
GO:0004842 Function Ubiquitin-protein transferase activity IDA 29742418, 33953269
GO:0004842 Function Ubiquitin-protein transferase activity IEA
GO:0004842 Function Ubiquitin-protein transferase activity ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
300379 13429 ENSG00000131263
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NVW2
Protein name E3 ubiquitin-protein ligase RLIM (EC 2.3.2.27) (LIM domain-interacting RING finger protein) (RING finger LIM domain-binding protein) (R-LIM) (RING finger protein 12) (RING-type E3 ubiquitin transferase RLIM) (Renal carcinoma antigen NY-REN-43)
Protein function E3 ubiquitin-protein ligase. 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 de
PDB 6W7Z , 6W9A , 6W9D
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13639 zf-RING_2 568 → 611 Ring finger domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in many tissues.
Sequence 
MENSDSNDKGSGDQSAAQRRSQMDRLDREEAFYQFVNNLSEEDYRLMRDNNLLGTPGEST
EEELLRRLQQIKEGPPPQNSDENRGGDSSDDVSNGDSIIDWLNSVRQTGNTTRSGQRGNQ
SWRAVSRTNPNSGDFRFSLEINVNRNNGSQNSENENEPSARRSSGENVENNSQRQVENPR
SESTSARPSRSERNSTEALTEVPPTRGQRRARSRSPDHRRTRARAERSRSPLHPMSEIPR
RSHHSISSQTFEHPLVNETEGSSRTRHHVTLRQQISGPELLSRGLFAASGTRNASQGAGS
SDTAASGESTGSGQRPPTIVLDLQVRRVRPGEYRQRDSIASRTRSRSQTPNNTVTYESER
GGFRRTFSRSERAGVRTYVSTIRIPIRRILNTGLSETTSVAIQTMLRQIMTGFGELSYFM
YSDSDSEPTGSVSNRNMERAESRSGRGGSGGGSSSGSSSSSSSSSSSSSSSSSSSSPSSS
SGGESSETSSDLFEGSNEGSSSSGSSGARREGRHRAPVTFDESGSLPFLSLAQFFLLNED
DDDQPRGLTKEQIDNLAMRSFGENDALKTCSVCITEYTEGNKLRKLPCSHEYHVHCIDRW
LSENSTCPICRRAVLASGNRESVV
Sequence length 624
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Antigen processing: Ubiquitination & Proteasome degradation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
48
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (4)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Global developmental delay Pathogenic rs786205133 RCV001526527
Intellectual disability, X-linked 61 Likely pathogenic; Pathogenic rs2147372360, rs786205133, rs1569309474, rs1569309776, rs1569309459, rs1569309460, rs1569309816, rs1569309449, rs1569309484, rs2079618652 RCV001542628
RCV000207499
RCV000239584
RCV000239497
RCV000239547
RCV000709994
RCV000709995
RCV000709996
RCV000735274
RCV001293455
Non-syndromic X-linked intellectual disability Pathogenic; Likely pathogenic rs786205133, rs1569309776 RCV000170337
RCV004017569
See cases Likely pathogenic rs866839831 RCV001420213
Show/Hide Unknown Diseases (13)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Likely benign rs7883332 RCV005906775
Familial cancer of breast Likely benign rs113198776 RCV005912907
Joubert syndrome Benign; Likely benign rs113452581 RCV005626260
Lung cancer Likely benign rs7883332 RCV005906776
Show/Hide Text Mining Associations (6)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 19117995
Carcinoma Hepatocellular Stimulate 37132043
Gaucher Disease Perinatal Lethal Associate 33953269
Hernia Diaphragmatic Associate 33953269
Intellectual Disability Associate 25735484, 33159883, 38199845
Prostatic Neoplasms Associate 30915735