RBBP8 - RB binding protein 8, endonuclease Gene

Also Known as RIM; COM1; CTIP; JWDS; SAE2; SCKL2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5932

About RBBP8

Cytogenetic location: 18q11.2 Genomic coordinates (GRCh38): 18:22,914,139-23,026,486 (from NCBI)

This gene has 16 transcripts (splice variants), 191 orthologues, 1 paralogue and is associated with 5 phenotypes. Broad expression in testis (RPKM 11.3), kidney (RPKM 6.6) and 25 other tissues.

Summary

The protein encoded by this gene is a ubiquitously expressed nuclear protein. It is found among several proteins that bind directly to retinoblastoma protein, which regulates cell proliferation. This protein complexes with transcriptional co-repressor CTBP. It is also associated with BRCA1 and is thought to modulate the functions of BRCA1 in transcriptional regulation, DNA repair, and/or cell cycle checkpoint control. It is suggested that this gene may itself be a tumor suppressor acting in the same pathway as BRCA1. Three transcript variants encoding two different isoforms have been found for this gene. More transcript variants exist, but their full-length natures have not been determined. [provided by RefSeq, Jul 2008]

RBBP8 Products (3)

mRNA	Protein	Name
NM_002894.3	NP_002885.1	DNA endonuclease RBBP8 isoform a
NM_203291.2	NP_976036.1	DNA endonuclease RBBP8 isoform a
NM_203292.2	NP_976037.1	DNA endonuclease RBBP8 isoform b

RBBP8 Protein Structure

CtIP_N

SAE2

0
200
400
600
800
897 a.a.

Protein Preferred Names	Protein Names
DNA endonuclease RBBP8	CTBP-interacting protein

RBBP8 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	RBBP8	Q99708	EXD2	Homo sapiens	Q9NVH0	Anti Tag CoIP	26807646
Intra	RBBP8	Q99708	PSIP1	Homo sapiens	O75475	Anti Tag CoIP	22773103
Intra	RBBP8	Q99708	BRCA1	Homo sapiens	P38398	ITC	18285836
Intra	RBBP8	Q99708	BRCA1	Homo sapiens	P38398	Pull Down	9811458
Intra	RBBP8	Q99708	BRCA1	Homo sapiens	P38398	Y2H	9811458
Intra	RBBP8	Q99708	MRE11	Homo sapiens	P49959	Anti Bait CoIP	21052091
Intra	RBBP8	Q99708	MRE11	Homo sapiens	P49959	Anti Tag CoIP	25558984
Intra	RBBP8	Q99708	MRE11	Homo sapiens	P49959	Anti Tag CoIP	26807646
Intra	RBBP8	Q99708	RB1	Homo sapiens	P06400	Anti Tag CoIP	22773103
Intra	RBBP8	Q99708	NBN	Homo sapiens	O60934	Anti Tag CoIP	25558984
Intra	RBBP8	Q99708	NBN	Homo sapiens	O60934	Anti Tag CoIP	22565321
Intra	RBBP8	Q99708	EXO1	Homo sapiens	Q9UQ84	Anti Bait CoIP	21052091
Intra	RBBP8	Q99708	CTBP1	Homo sapiens	Q13363	Anti Tag CoIP	26807646
Intra	RBBP8	Q99708	CTBP1	Homo sapiens	Q13363	CoIP	9535825
Intra	RBBP8	Q99708	EXO1	Homo sapiens	Q9UQ84	Anti Tag CoIP	26807646

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Jawad Syndrome	JWDS Kelly Syndrome Microcephaly With Mental Retardation And Digital Anomalies Kelly Microcephaly-Digital Anomalies Syndrome Plummer-Vinson Syndrome
Seckel Syndrome 2	SCKL2 Seckel-Type Dwarfism 2 Microcephalic Primordial Dwarfism 2 Bird-Headed Dwarfism 2 Seckel Syndrome, Type 2
Seckel Syndrome	Microcephalic Primordial Dwarfism Bird-Headed Dwarfism Harper'S Syndrome Virchow-Seckel Dwarfism Nanocephalic Dwarfism Sckl Seckel-Type Dwarfism
Pancreatic Cancer	Pancreatic Carcinoma Carcinoma Of Pancreas Familial Pancreatic Carcinoma Pancreatic Neoplasm Pancreatic Carcinoma, Familial Malignant Neoplasm Of Pancreas Pancreatic Acinar Carcinoma Pancreatic Tumor Familial Pancreatic Cancer Neoplasm Of The Pancreas Cancer Of The Pancreas Pancreatic Carcinoma, Somatic Pancreatic Cancer, Somatic Ca Body Of Pancreas Ca Head Of Pancreas Ca Tail Of Pancreas Malignant Neoplasm Of Body Of Pancreas Malignant Neoplasm Of Head Of Pancreas Malignant Neoplasm Of Tail Of Pancreas Pancreas Neoplasm Exocrine Cancer Exocrine Pancreas Carcinoma Hereditary Pancreatic Cancer Hereditary Pancreatic Carcinoma PNCA Pancreatic Cancer, Susceptibility To Carcinoma Of Head Of Pancreas Pancreatic Neoplasms Pancreatic Tumors Cancer, Pancreatic Cancer Of Pancreas Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site
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
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
Synpolydactyly	Syndactyly Type 2 Syndactyly, Type 2 Spd
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Mitochondrial Dna Deletion Syndrome With Progressive Myopathy PEOA6 Autosomal Dominant Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions 6 Dna2-Related Mitochondrial Dna Deletion Syndrome Mitochondrial Dna Deletion Syndrome With Limb-Girdle Weakness Mtdna Deletion Syndrome With Limb-Girdle Weakness Mtdna Deletion Syndrome With Progressive Myopathy Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 6 Progressive External Ophthalmoplegia, Autosomal Dominant 6 Autosomal Dominant Progressive External Ophthalmoplegia 6 Progressive External Ophthalmoplegia Autosomal Dominant 6 Ophthalmoplegia, External, Progressive, With Mitochondrial Dna Deletions, Autosomal Dominant, Type 6
Fibrochondrogenesis 2	FBCG2 Fibrochondrogenesis, Type 2
Seckel Syndrome 8	SCKL8 Seckel Syndrome, Type 8
Ataxia-Telangiectasia	Ataxia Telangiectasia Louis-Bar Syndrome AT At1 Ataxia-Telangiectasia Syndrome Ataxia - Telangiectasia Variant Boder-Sedgwick Syndrome Louis Bar Syndrome Cerebello-Oculocutaneous Telangiectasia Immunodeficiency With Ataxia Telangiectasia A-T Ataxia Telangiectasia Syndrome Atm Telangiectasia, Cerebello-Oculocutaneous Ataxia-Telangiectasia Variant
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Ewing Sarcoma	Neuroepithelioma Ewing'S Tumor Primitive Neuroectodermal Tumor Ewings Sarcoma Ewing'S Sarcoma Peripheral Neuroepithelioma ES Ewings Sarcoma-Primitive Neuroectodermal Tumor Localized Peripheral Primitive Neuroectodermal Tumor Peripheral Primitive Neuroectodermal Tumor Ewing Tumor Sarcoma, Ewing'S Ewing Family Of Tumors Extraosseous Ewing Tumor Askin Tumor Ewing'S Family Localized Tumor Ewing'S Sarcoma/Peripheral Primitive Neuroectodermal Tumor Localized Ewing Sarcoma Localized Ewing'S Sarcoma Localized Ewing'S Sarcoma/Peripheral Primitive Neuroectodermal Tumor Localized Ewing'S Tumor Pnet Of Thoracopulmonary Region Tumor Of The Ewing Family Skeletal Ewing Sarcoma Osseous Ewing Sarcoma Ppnet Peripheral Pnet Extraskeletal Ewing Sarcoma Eoe Extraosseous Ewing Sarcoma Extraskeletal Ewing Tumor Esft Ewing Sarcoma Family Of Tumors Pne Pnet Pnet Of The Chest Wall Sarcoma, Ewing Neuroectodermal Tumors, Primitive, Peripheral Neuroectodermal Tumor, Primitive Disorder Of Eye Askin'S Tumor Extraosseous Ewings Sarcoma-Primitive Neuroepithelial Tumor Neuroepithelioma, Peripheral
Sporadic Breast Cancer	Sporadic Breast Carcinoma
Nijmegen Breakage Syndrome	Berlin Breakage Syndrome NBS Microcephaly, Normal Intelligence And Immunodeficiency Ataxia-Telangiectasia Variant Ataxia-Telangiectasia Variant V1 Seemanova Syndrome Ii Immunodeficiency-Microcephaly-Chromosomal Instability Syndrome Seemanova Syndrome Type 2 At-V1 Microcephaly With Normal Intelligence, Immunodeficiency, And Lymphoreticular Malignancies Nonsyndromal Microcephaly, Autosomal Recessive, With Normal Intelligence Immunodeficiency, Microcephaly, And Chromosomal Instability Microcephaly-Immunodeficiency-Lymphoreticuloma Syndrome Microcephaly Immunodeficiency Lymphoreticuloma Microcephaly With Normal Intelligence Immunodeficiency And Lymphoreticular Malignancies Nonsyndromal Microcephaly Autosomal Recessive With Normal Intelligence Seemanova Syndrome 2 Ataxia-Telangiectasia Variant 1 Seemanova Syndrome At V1 Ataxia-Telangiectasia, Variant 1 Microcephaly-Immunodeficiency-Lymphoid Malignancy Syndrome V-At Ataxia Telangiectasia Variant V1
Lig4 Syndrome	Dna Ligase Iv Deficiency Ligase 4 Syndrome LIG4S
Xeroderma Pigmentosum, Variant Type	Xeroderma Pigmentosum XPV Xeroderma Pigmentosum Variant Type Xeroderma Pigmentosum With Normal Dna Repair Rates Photosensitivity With Defective Dna Synthesis Xp De Sanctis-Cacchione Syndrome Desanctis-Cacchione Syndrome Xeroderma Pigmentosa Xerodermic Idiocy Xeroderma Pigmentosum Variant Xp - [Xeroderma Pigmentosum] Atrophoderma Pigmentosum
Autosomal Recessive Cerebellar Ataxia	Arca
Hereditary Breast Ovarian Cancer Syndrome	Hereditary Breast And Ovarian Cancer Syndrome Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer Breast And/Or Ovarian Cancer Breast And Ovarian Cancer Syndrome Hboc Syndrome Hereditary Breast And Ovarian Cancer Brca1- Brca2-Associated Hboc
Brachydactyly
Ovarian Cancer	Ovarian Carcinoma Ovarian Neoplasm Malignant Tumour Of Ovary Cancer Of The Ovary Epithelial Ovarian Cancer Neoplasm Of Ovary Ovarian Neoplasms Ovarian Cancers Malignant Neoplasm Of Ovary Primary Malignant Neoplasm Of Ovary Ovarian Cancer, Somatic Malignant Ovarian Tumor Ovary Neoplasm Primary Ovarian Cancer Tumor Of The Ovary Malignant Neoplasm Of The Ovary Malignant Tumor Of The Ovary Ovarian Malignant Tumor OC Ovarian Carcinomas Cancer, Ovarian Cancer Of Ovary Ovary Cancer Ca Ovary
Meier-Gorlin Syndrome 1	Meier-Gorlin Syndrome Ear, Patella, Short Stature Syndrome Microtia, Absent Patellae, Micrognathia Syndrome MGORS1 Eps Ear-Patella-Short Stature Syndrome Ear Patella Short Stature Syndrome Microtia Absent Patellae Micrognathia Syndrome Meier-Gorlin Syndrome, Type 1
Aplastic Anemia	Aplastic Anemia, Susceptibility To Anemia Aplastic Idiopathic Aplastic Anemia Secondary Aplastic Anemia Idiopathic Bone Marrow Failure Aplastic Anemia Idiopathic AA Anemia, Aplastic Aplastic Anemia, Idiopathic Erythroid Aplasia Aa - [Aplastic Anaemia] Haematopoietic Aplasia Aleukia Haemorrhagica Anaemia Due To Decreased Red Cell Production Aplasia Bone Marrow Aplastic Bone Marrow Hypoplastic Anaemia Nos Myeloid Bone Marrow Aplasia Pancytopenia Panhaematopenia Hypoproliferative Anaemia Medullary Hypoplasia Red Blood Cells Hypoplastic Anaemia Panmyelophthisis Panhemocytopenia Refractive Hypoproliferative Anaemia Toxic Anaemia Toxic Aplastic Anaemia Aplastic Anaemia Due To Toxic Cause Idiopathic Aplastic Anaemia Nos
Fanconi Anemia, Complementation Group A	Fanconi Anemia Fanconi Pancytopenia Fanconi Anemia Complementation Group A FANCA Fa Fanconi Panmyelopathy Fanconi'S Anemia Fanconi Anaemia Fanconi'S Anaemia Fanconi Hypoplastic Anemia Estren-Dameshek Variant Of Fanconi Anemia Estren-Dameshek Variant Of Fanconi Pancytopenia Fanconi Anemia Estren-Dameshek Variant Fanconis Anemia
Primary Autosomal Recessive Microcephaly	Autosomal Recessive Primary Microcephaly Mcph True Microcephaly Microcephalia Vera Microcephaly Vera Microcephaly Primary Hereditary Microcephaly, Primary, Autosomal Recessive Primary Microcephaly
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11720	RBBP8 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20478	Rbbp8 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26986	Rbbp8 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	RBBP8	VGNC	VGNC:104242
Rattus norvegicus	RBBP8	RGD	RGD:1308872
Felis catus	RBBP8	VGNC	VGNC:69259
Mus musculus	RBBP8	MGD	MGI:2442995
Canis familiaris	RBBP8	VGNC	VGNC:45394
Bos taurus	RBBP8	VGNC	VGNC:33773
Others	RBBP8	NCBI