1. Gene
  2. RBBP5 - RB binding protein 5, histone lysine methyltransferase complex subunit Gene

RBBP5 - RB binding protein 5, histone lysine methyltransferase complex subunit Gene

Homo sapiens

Also known as RBQ3; SWD1

Gene ID: 5929 | Gene type: protein coding

About RBBP5

Cytogenetic location: 1q32.1 Genomic coordinates (GRCh38): 1:205,086,142-205,121,978 (from NCBI)

This gene has 3 transcripts (splice variants), 209 orthologues and 2 paralogues. Ubiquitous expression in thyroid (RPKM 6.5), lymph node (RPKM 6.0) and 25 other tissues.

Summary

This gene encodes a ubiquitously expressed nuclear protein which belongs to a highly conserved subfamily of WD-repeat proteins. The encoded protein binds directly to retinoblastoma protein, which regulates cell proliferation. It interacts preferentially with the underphosphorylated retinoblastoma protein via the E1A-binding pocket B. Three alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2010]

RBBP5 Products(3)

mRNA Protein Name
NM_001193272.2 NP_001180201.1 retinoblastoma-binding protein 5 isoform 2
NM_001193273.2 NP_001180202.1 retinoblastoma-binding protein 5 isoform 3
NM_005057.4 NP_005048.2 retinoblastoma-binding protein 5 isoform 1

RBBP5 Protein Structure

WD40

WD40: WD domain, G-beta repeat (30 - 52)

WD40

WD40: WD domain, G-beta repeat (61 - 94)

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  • 538 a.a.
Protein Preferred Names Protein Names

retinoblastoma-binding protein 5

RBBP-5

Related Diseases

Diseases Alias
Retinoblastoma

RB

Trilateral Retinoblastoma

RB1

Retinoblastoma, Trilateral

Neuroblastoma Of Retina

Rb - Retinoblastoma

Eye Cancer, Retinoblastoma

Retinal Cancer

Retinal Tumor

Glioma, Retinal

Non-Hereditary Retinoblastoma

Childhood Cancer Retinoblastoma

Malignant Neoplasm Of Retina

Retinal Neoplasms

Kabuki Syndrome 1

Kabuki Syndrome

Niikawa-Kuroki Syndrome

Kabuki Make-Up Syndrome

Kms

KABUK1

Kabuki Make Up Syndrome

Nks

Kabuki Makeup Syndrome

Kabuki Syndrome, Type 1

Multiple Endocrine Neoplasia, Type I

Multiple Endocrine Neoplasia Type 1

MEN1

Wermer Syndrome

Multiple Endocrine Neoplasia 1

Multiple Endocrine Neoplasia, Type 1

Men I

Endocrine Adenomatosis, Multiple

Mea I

Men Type I

Wermer'S Syndrome

Men1 Syndrome

Multiple Endocrine Adenomatosis

Endocrine Adenomatosis Multiple

Men 1

Familial Multiple Endocrine Neoplasia Type I

Neoplasia, Endocrine, Multiple, Type 1

Multiple Endocrine Neoplasia

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

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
Rattus norvegicus RBBP5 RGD RGD:1305532
Mus musculus RBBP5 MGD MGI:1918367
Felis catus RBBP5 VGNC VGNC:69257
Macaca mulatta RBBP5 VGNC VGNC:76676
Canis familiaris RBBP5 VGNC VGNC:53127
Bos taurus RBBP5 VGNC VGNC:50641