RLIM - ring finger protein, LIM domain interacting Gene

Also Known as MRX61; RNF12; TOKAS; NY-REN-43

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 51132

About RLIM

Cytogenetic location: Xq13.2 Genomic coordinates (GRCh38): X:74,582,976-74,614,624 (from NCBI)

This gene has 2 transcripts (splice variants), 206 orthologues, 3 paralogues and is associated with 3 phenotypes. Ubiquitous expression in bone marrow (RPKM 10.2), brain (RPKM 9.5) and 25 other tissues.

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-repressors of LHX1/LIM-1, a homeodomain transcription factor. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Feb 2009]

RLIM Products (2)

mRNA Protein Name
NM_016120.4 NP_057204.2 E3 ubiquitin-protein ligase RLIM
NM_183353.3 NP_899196.1 E3 ubiquitin-protein ligase RLIM
Biological Process GO Annotation Evidence References Source
involved in random inactivation of X chromosome IDA
IDA: Inferred from direct assay
19945382 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RLIM Protein Structure

zf-RING_2

zf-RING_2: Ring finger domain (569 - 611)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 624 a.a.
Protein Preferred Names Protein Names

E3 ubiquitin-protein ligase RLIM

  • E3 ubiquitin-protein ligase RNF12

Related Diseases

Diseases Alias
Tonne-Kalscheuer Syndrome
  • TOKAS

  • Mrx61

  • Intellectual Developmental Disorder With Or Without Hand And Foot Anomalies, Genital Anomalies, Or Congenital Diaphragmatic Hernia

  • Mental Retardation, X-Linked 61

  • X-Linked Mental Retardation 61

Non-Specific Syndromic Intellectual Disability
  • Complex Neurodevelopmental Disorder

Non-Syndromic X-Linked Intellectual Disability
  • X-Linked Non-Syndromic Intellectual Disability

  • Non-Specific X-Linked Mental Retardation

  • X-Linked Non-Specific Intellectual Disability

Retinitis Pigmentosa 24
  • RP24

  • Retinitis Pigmentosa-24

Non-Syndromic X-Linked Intellectual Disability 98
  • Mrx98

  • X-Linked Mental Retardation 98

Retinitis Pigmentosa 26
  • RP26

  • Retinitis Pigmentosa-26

  • Retinitis Pigmentosa, Type 26

Syndromic X-Linked Intellectual Disability
  • X-Linked Syndromic Intellectual Disability

Syndromic Intellectual Disability
Breast Cancer
  • Breast Carcinoma

  • Male Breast Cancer

  • Breast Cancer, Familial

  • Malignant Neoplasm Of Breast

  • Breast Cancer, Susceptibility To

  • Breast Cancer, Early-Onset

  • Malignant Tumor Of Breast

  • Carcinoma Of Male Breast

  • Breast Cancer, Invasive Ductal

  • Breast Cancer, Protection Against

  • Breast Cancer, Somatic

  • Breast Cancer, Male

  • Breast Cancer, Lobular, Somatic

  • Breast Tumor

  • Mammary Cancer

  • Mammary Tumor

  • Malignant Neoplasm Of Male Breast

  • Mammary Carcinoma

  • Male Breast Carcinoma

  • Familial Cancer Of Breast

  • Invasive Ductal Breast Carcinoma

  • Breast Cancer Susceptibility

  • Breast Cancer, Male, Susceptibility To

  • Breast Cancer, Early-Onset, Susceptibility To

  • Malignant Tumor Of The Breast

  • Mammary Neoplasm

  • Primary Breast Cancer

  • Neoplasm Of Male Breast

  • Carcinoma Of Breast

  • Breast Cancer In Men

  • Familial Breast Cancer

  • Cancer Of Breast

  • BC

  • Breast Cancer Familial

  • Breast Cancer Familial Male

  • Breast Cancer, Familial Male

  • Breast Male Carcinoma

  • Breast Neoplasms

  • Breast Neoplasms, Male

  • Mammary Tumors

  • Mammary Carcinomas

  • Cancer, Breast

  • Cancer, Breast, Susceptibility

  • Invasive Breast Ductal Carcinoma

  • Breast Neoplasm

  • Susceptibility To Breast Cancer

  • Mammary Neoplasms

  • Animal Mammary Neoplasms

  • Primary Malignant Neoplasm Of Breast

  • Infiltrating Ductal Carcinoma Of Breast

  • Infiltrating Duct Carcinoma Of Unspecified Site

  • Infiltrating Ductular Carcinoma Of Unspecified Site

  • Invasive Breast Carcinoma Of No Special Type

  • Microinvasive Carcinoma Of Breast

  • Carcinoma With Apocrine Differentiation

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus RLIM MGD MGI:1342291
Bos taurus RLIM VGNC VGNC:56952
Macaca mulatta RLIM VGNC VGNC:103853
Rattus norvegicus RLIM RGD RGD:1559832
Felis catus RLIM VGNC VGNC:97606
Canis familiaris RLIM VGNC VGNC:54186
Others RLIM NCBI