RB1CC1 - RB1 inducible coiled-coil 1 Gene

Also Known as CC1; ATG17; FIP200; PPP1R131

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9821

About RB1CC1

Cytogenetic location: 8q11.23 Genomic coordinates (GRCh38): 8:52,622,458-52,714,435 (from NCBI)

This gene has 10 transcripts (splice variants), 223 orthologues and is associated with 1 phenotype. Ubiquitous expression in testis (RPKM 14.7), brain (RPKM 11.4) and 25 other tissues.

Summary

The protein encoded by this gene interacts with signaling pathways to coordinately regulate cell growth, cell proliferation, Apoptosis, Autophagy, and cell migration. This tumor suppressor also enhances retinoblastoma 1 gene expression in Cancer cells. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Nov 2009]

RB1CC1 Products (2)

mRNA	Protein	Name
NM_001083617.2	NP_001077086.1	RB1-inducible coiled-coil protein 1 isoform 2
NM_014781.5	NP_055596.3	RB1-inducible coiled-coil protein 1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	19211835	GOA
enables protein kinase binding	IDA IDA: Inferred from direct assay	19211835	GOA
enables protein-membrane adaptor activity	IDA IDA: Inferred from direct assay	23392225	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in autophagosome assembly	IDA IDA: Inferred from direct assay	19225151	GOA
involved in negative regulation of cell population proliferation	IDA IDA: Inferred from direct assay	21795849	GOA
involved in regulation of protein lipidation	IDA IDA: Inferred from direct assay	19225151	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of Atg1/ULK1 kinase complex	IPI IPI: Inferred from physical interaction	19211835	GOA
located in lysosome	IDA IDA: Inferred from direct assay	28561066	GOA
is active in phagophore assembly site	IDA IDA: Inferred from direct assay	28561066	GOA
located in phagophore assembly site	IDA IDA: Inferred from direct assay	19597335	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

RB1CC1 Protein Structure

ATG11

0
300
600
900
1200
1500
1594 a.a.

Protein Preferred Names	Protein Names
RB1-inducible coiled-coil protein 1	200 kDa FAK family kinase-interacting protein

RB1CC1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	RB1CC1	Q8TDY2	ATG5	Homo sapiens	Q9H1Y0	Crosslink	23392225
Intra	RB1CC1	Q8TDY2	ATG5	Homo sapiens	Q9H1Y0	Anti Tag CoIP	23262492
Cross	RB1CC1	Q8TDY2	Atg16l1	Mus musculus	Q8C0J2-3	Anti Tag CoIP	23262492
Intra	RB1CC1	Q8TDY2	C9orf72	Homo sapiens	Q96LT7-1	Pull Down	27334615
Intra	RB1CC1	Q8TDY2	C9orf72	Homo sapiens	Q96LT7-1	PLA	27334615
Intra	RB1CC1	Q8TDY2	C9orf72	Homo sapiens	Q96LT7-1	Anti Tag CoIP	27334615
Intra	RB1CC1	Q8TDY2	C9orf72	Homo sapiens	Q96LT7-2	Anti Tag CoIP	27334615
Intra	RB1CC1	Q8TDY2	C9orf72	Homo sapiens	Q96LT7-2	IF	27334615
Intra	RB1CC1	Q8TDY2	C9orf72	Homo sapiens	Q96LT7-2	Pull Down	27334615
Intra	RB1CC1	Q8TDY2	C9orf72	Homo sapiens	Q96LT7-2	PLA	27334615
Intra	RB1CC1	Q8TDY2	ATG13	Homo sapiens	O75143	Anti Tag CoIP	20562859
Intra	RB1CC1	Q8TDY2	ATG13	Homo sapiens	O75143	Crosslink	23392225
Intra	RB1CC1	Q8TDY2	ATG101	Homo sapiens	Q9BSB4	Anti Tag CoIP	20562859
Intra	RB1CC1	Q8TDY2	ATG101	Homo sapiens	Q9BSB4	BioID	34524948
Intra	RB1CC1	Q8TDY2	ATG101	Homo sapiens	Q9BSB4	Crosslink	23392225
Intra	RB1CC1	Q8TDY2	ATG101	Homo sapiens	Q9BSB4	Anti Tag CoIP	19597335
Intra	RB1CC1	Q8TDY2	TBKBP1	Homo sapiens	A7MCY6	Anti Tag CoIP	21903422
Intra	RB1CC1	Q8TDY2	ATG16L1	Homo sapiens	Q676U5	Anti Tag CoIP	20562859
Intra	RB1CC1	Q8TDY2	ATG16L1	Homo sapiens	Q676U5	Crosslink	23392225
Intra	RB1CC1	Q8TDY2	ATG16L1	Homo sapiens	Q676U5	Anti Tag CoIP	23262492
Intra	RB1CC1	Q8TDY2	ULK1	Homo sapiens	O75385	BioID	34524948
Intra	RB1CC1	Q8TDY2	ULK1	Homo sapiens	O75385	Crosslink	23392225
Intra	RB1CC1	Q8TDY2	ULK1	Homo sapiens	O75385	Anti Tag CoIP	20562859

Cross: Cross-species interaction Intra: Intraspecies interaction

RB1CC1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P80130	FIP200 Antibody (YA761)	WB	Human, Mouse

Related Diseases

Diseases	Alias
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
Breast Adenocarcinoma	Mammary Adenocarcinoma Adenocarcinoma Of Breast
Neurodegeneration With Brain Iron Accumulation	Nbia Neurodegeneration With Brain Iron Accumulation Disorders Neurodegeneration, With Brain Iron Accumulation
Vulvar Leiomyoma
Vulvar Benign Neoplasm
Vici Syndrome	Absent Corpus Callosum Cataract Immunodeficiency VICIS Immunodeficiency With Cleft Lip/Palate, Cataract, Hypopigmentation, And Absent Corpus Callosum Dionisi Vici Sabetta Gambarara Syndrome Immunodeficiency With Cleft Lip/Palate, Cataract, Hypopigmentation And Absent Corpus Callosum Corpus Callosum Agenesis-Cataract-Immunodeficiency Syndrome Dionisi-Vici-Sabetta-Gambarara Syndrome Immunodeficiency With Cleft Lip/Palate Cataract Hypopigmentation And Absent Corpus Callosum
Neurodegeneration With Brain Iron Accumulation 5	NBIA5 Beta-Propeller Protein-Associated Neurodegeneration Bpan Static Encephalopathy Of Childhood With Neurodegeneration In Adulthood Senda Neurodegeneration With Brain Iron Accumulation Type 5 Neurodegeneration With Brain Iron Accululation 5 Static Encephalopathy Of Childhood With Neurdegeneration In Adulthood Neurodegeneration, With Brain Iron Accululation, Type 5
Autism Spectrum Disorder	Asd Autism Spectrum Disorders Autistic Continuum Pervasive Developmental Disorder Pervasive Development Disorder Autistic Behavior Autistic Disorder Autistic Autistic Disorder Of Childhood Onset Infantile Autism Childhood Autism Kanner Syndrome Pervasive Developmental Delay Nos Pervasive Developmental Disorder, Not Otherwise Specified
Amyotrophic Lateral Sclerosis 1	Amyotrophic Lateral Sclerosis ALS Lou Gehrig Disease Amyotrophic Lateral Sclerosis Type 1 Charcot Disease ALS1 Amyotrophic Lateral Sclerosis, Susceptibility To Fals Lou Gehrig'S Disease Mnd Motor Neuron Disease Familial Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis 1, Familial Amyotrophic Lateral Sclerosis 1, Autosomal Dominant Motor Neuron Disease, Bulbar Motor Neurone Disease Amyotrophic Lateral Sclerosis With Dementia Dementia With Amyotrophic Lateral Sclerosis Motor Neuron Disease, Amyotrophic Lateral Sclerosis Sclerosis, Lateral, Amyotrophic Sclerosis, Lateral, Amyotrophic, Type 1 Amyotrophic Sclerosis Als - [Amyotrophic Lateral Sclerosis] Wasting Palsy Amyotrophic Paralysis Amyotrophy Lateral Sclerosis Wasting Paralysis Spinal Progressive Amyotrophy Progressive Atrophic Paralysis

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11714	RB1CC1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	RB1CC1	VGNC	VGNC:64514
Bos taurus	RB1CC1	VGNC	VGNC:33769
Macaca mulatta	RB1CC1	VGNC	VGNC:76483
Canis familiaris	RB1CC1	VGNC	VGNC:45390
Mus musculus	RB1CC1	MGD	MGI:1341850
Rattus norvegicus	RB1CC1	RGD	RGD:1309346
Others	RB1CC1	NCBI