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

Also Known as RBQ3; SWD1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 5929

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
Molecular Function GO Annotation Evidence Verweise Source
enables histone binding IDA
IDA: Inferred from direct assay
15960975 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
12482968 GOA
enables transcription cis-regulatory region binding IDA
IDA: Inferred from direct assay
16603732 GOA
Biological Process GO Annotation Evidence Verweise Source
acts upstream of or within DNA damage response IDA
IDA: Inferred from direct assay
17500065 GOA
involved in response to estrogen IDA
IDA: Inferred from direct assay
16603732 GOA
involved in transcription initiation-coupled chromatin remodeling IDA
IDA: Inferred from direct assay
19556245 GOA
Cellular Component GO Annotation Evidence Verweise Source
part of MLL1 complex IDA
IDA: Inferred from direct assay
15960975 GOA
part of MLL1 complex IPI
IPI: Inferred from physical interaction
23508102 GOA
part of MLL1/2 complex IPI
IPI: Inferred from physical interaction
23508102 GOA
part of MLL3/4 complex IDA
IDA: Inferred from direct assay
17500065 GOA
part of MLL3/4 complex IPI
IPI: Inferred from physical interaction
23508102 GOA
part of Set1C/COMPASS complex IDA
IDA: Inferred from direct assay
17998332 GOA
part of Set1C/COMPASS complex IPI
IPI: Inferred from physical interaction
23508102 GOA
part of histone methyltransferase complex IDA
IDA: Inferred from direct assay
17355966 GOA
located in nucleus IDA
IDA: Inferred from direct assay
15199122 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

RBBP5 Protein Structure

WD40

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

WD40

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

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

retinoblastoma-binding protein 5

  • RBBP-5

RBBP5 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Verweise
Intra
RBBP5 Q15291 SETD1A Homo sapiens O15047 33961781
Intra
RBBP5 Q15291 ASH2L Homo sapiens Q9UBL3 16603732
Intra
RBBP5 Q15291 ASH2L Homo sapiens Q9UBL3 17500065
Intra
RBBP5 Q15291 ASH2L Homo sapiens Q9UBL3 17178841
Intra
RBBP5 Q15291 WDR5 Homo sapiens P61964 17041588
Intra
RBBP5 Q15291 WDR5 Homo sapiens P61964
ITC
21220120
Intra
RBBP5 Q15291 WDR5 Homo sapiens P61964 17500065
Intra
RBBP5 Q15291 WDR5 Homo sapiens P61964 17178841
Intra
RBBP5 Q15291 WDR5 Homo sapiens P61964 17925232
Intra
RBBP5 Q15291 WDR5 Homo sapiens P61964 17500065
Intra
RBBP5 Q15291 WDR5 Homo sapiens P61964 21220120
Intra
RBBP5 Q15291 KMT2A Homo sapiens Q03164 15960975
Intra
RBBP5 Q15291 KMT2A Homo sapiens Q03164 15960975
Intra
RBBP5 Q15291 KMT2A Homo sapiens Q03164 33961781
Intra
RBBP5 Q15291 PAXIP1 Homo sapiens Q6ZW49 17500065
Intra
RBBP5 Q15291 PAXIP1 Homo sapiens Q6ZW49 17925232
Intra
RBBP5 Q15291 PAXIP1 Homo sapiens Q6ZW49 17178841
Intra
RBBP5 Q15291 PAXIP1 Homo sapiens Q6ZW49 33961781
Intra
RBBP5 Q15291 CXXC1 Homo sapiens Q9P0U4 33961781
Cross: Cross-species interaction Intra: Intraspecies interaction

RBBP5 Antibodies

Art. -Nr. Produktname Anwendung Reactivity
HY-P80302 RbBP5 Antibody (YA102) WB Human, Mouse, Rat
HY-P85617 RbBP5 Antibody (YA5309) WB, ICC/IF, IF-Tissue Human, Mouse, Rat

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
Others RBBP5 NCBI