RB1CC1 RB1 inducible coiled-coil 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RB1CC1provided by HGNC
Official Full Name: RB1 inducible coiled-coil 1provided by HGNC
Primary source: HGNC:HGNC:15574
See related: Ensembl:ENSG00000023287 MIM:606837; AllianceGenome:HGNC:15574
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CC1; ATG17; FIP200; PPP1R131
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]
Expression: Ubiquitous expression in testis (RPKM 14.7), brain (RPKM 11.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8q11.23

Exon count:: 29

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (52622458..52714435, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (52998490..53090429, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (53535018..53626995, complement)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

FIP200 Phosphorylation Regulates Late Steps in Mitophagy.
Title: FIP200 Phosphorylation Regulates Late Steps in Mitophagy.
METTL14 inhibits malignant progression of oral squamous cell carcinoma by targeting the autophagy-related gene RB1CC1 in an m6A-IGF2BP2-dependent manner.
Title: METTL14 inhibits malignant progression of oral squamous cell carcinoma by targeting the autophagy-related gene RB1CC1 in an m6A-IGF2BP2-dependent manner.
A novel role of ATG9A and RB1CC1/FIP200 in mediating cell-death checkpoints to repress TNF cytotoxicity.
Title: A novel role of ATG9A and RB1CC1/FIP200 in mediating cell-death checkpoints to repress TNF cytotoxicity.
Regulation of RB1CC1/FIP200 stability and autophagy function by CREBBP-mediated acetylation in an intrinsically disordered region.
Title: Regulation of RB1CC1/FIP200 stability and autophagy function by CREBBP-mediated acetylation in an intrinsically disordered region.
Loss of function of FIP200 in human pluripotent stem cell-derived neurons leads to axonal pathology and hyperactivity.
Title: Loss of function of FIP200 in human pluripotent stem cell-derived neurons leads to axonal pathology and hyperactivity.
ATG14 and RB1CC1 play essential roles in maintaining muscle homeostasis.
Title: ATG14 and RB1CC1 play essential roles in maintaining muscle homeostasis.
Circ-CUL2/microRNA-888-5p/RB1CC1 axis participates in cisplatin resistance in NSCLC via repressing cell advancement.
Title: Circ-CUL2/microRNA-888-5p/RB1CC1 axis participates in cisplatin resistance in NSCLC via repressing cell advancement.
The ERK1/2-ATG13-FIP200 signaling cascade is required for autophagy induction to protect renal cells from hypoglycemia-induced cell death.
Title: The ERK1/2-ATG13-FIP200 signaling cascade is required for autophagy induction to protect renal cells from hypoglycemia-induced cell death.
ZBTB28 induces autophagy by regulation of FIP200 and Bcl-XL facilitating cervical cancer cell apoptosis.
Title: ZBTB28 induces autophagy by regulation of FIP200 and Bcl-XL facilitating cervical cancer cell apoptosis.
FIP200 controls the TBK1 activation threshold at SQSTM1/p62-positive condensates.
Title: FIP200 controls the TBK1 activation threshold at SQSTM1/p62-positive condensates.

Submit: New GeneRIF Correction See all GeneRIFs (58)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Familial cancer of breast MedGen: C0346153 OMIM: 114480 GeneReviews: BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer	Compare labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2018-07-25) ClinGen Genome Curation PagePubMed Haploinsufficency Little evidence for dosage pathogenicity (Last evaluated 2018-07-25) ClinGen Genome Curation PagePubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of RB1-inducible coiled-coil 1 (RB1CC1) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH25416 (e-PCR)
- UniSTS:79619

D8S1068 (e-PCR)
- UniSTS:36133

A007F24 (e-PCR)
- UniSTS:64572

RH78347 (e-PCR)
- UniSTS:76864

WI-13801 (e-PCR)
- UniSTS:32585

G59745 (e-PCR)
- UniSTS:137041

RH12077 (e-PCR)
- UniSTS:66917

D8S1669 (e-PCR)
- UniSTS:74091

WI-12431 (e-PCR)
- UniSTS:2938

D8S2116 (e-PCR)
- UniSTS:22175

G20788 (e-PCR)
- UniSTS:7329

A006G21 (e-PCR)
- UniSTS:7330

WI-15400 (e-PCR)
- UniSTS:41408

D8S1215 (e-PCR)
- UniSTS:150247

WI-19524 (e-PCR)
- UniSTS:74989

A007F23 (e-PCR)
- UniSTS:19199

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables molecular adaptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein kinase binding	IDA Inferred from Direct Assay more info	PubMed
enables protein-membrane adaptor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in autophagosome assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in autophagosome assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in autophagy	ISS Inferred from Sequence or Structural Similarity more info
involved_in autophagy of mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
involved_in defense response to virus	IEA Inferred from Electronic Annotation more info
involved_in extrinsic apoptotic signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in glycophagy	IBA Inferred from Biological aspect of Ancestor more info
involved_in heart development	IEA Inferred from Electronic Annotation more info
involved_in innate immune response	IEA Inferred from Electronic Annotation more info
involved_in liver development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of extrinsic apoptotic signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in pexophagy	IBA Inferred from Biological aspect of Ancestor more info
involved_in piecemeal microautophagy of the nucleus	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of JNK cascade	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of autophagy	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cell size	IEA Inferred from Electronic Annotation more info
involved_in regulation of protein lipidation	IDA Inferred from Direct Assay more info	PubMed
involved_in reticulophagy	IBA Inferred from Biological aspect of Ancestor more info
involved_in ribophagy	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of Atg1/ULK1 kinase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of Atg1/ULK1 kinase complex	IPI Inferred from Physical Interaction more info	PubMed
located_in autophagosome membrane	IEA Inferred from Electronic Annotation more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in lysosome	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear membrane	IDA Inferred from Direct Assay more info
is_active_in phagophore assembly site	IDA Inferred from Direct Assay more info	PubMed
located_in phagophore assembly site	IDA Inferred from Direct Assay more info	PubMed
is_active_in phagophore assembly site membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in phagophore assembly site membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: RB1-inducible coiled-coil protein 1

Names: 200 kDa FAK family kinase-interacting protein; FAK family kinase-interacting protein of 200 kDa; phosphatase 1, regulatory subunit 131

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_015833.2 RefSeqGene

Range

5032..97009

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001083617.2 → NP_001077086.1 RB1-inducible coiled-coil protein 1 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in a shorter protein (isoform 2).

Source sequence(s)

AB059622, AC090814, AC113139, D86958, DA326842

Consensus CDS

CCDS47856.1

UniProtKB/Swiss-Prot

Q8TDY2

Related

ENSP00000396067.2, ENST00000435644.6

Conserved Domains (8) summary

COG1340
Location:1000 → 1265

COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]

pfam10377
Location:1439 → 1585

ATG11; Autophagy-related protein 11

pfam13851
Location:858 → 1073

GAS; Growth-arrest specific micro-tubule binding

cd16269
Location:1219 → 1230

GBP_C; coiled coil [structural motif]

cl00155
Location:3 → 77

UBQ; Ubiquitin-like proteins

cl02488
Location:886 → 1059

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

cl20817
Location:1142 → 1250

GBP_C; Guanylate-binding protein, C-terminal domain

cl23765
Location:1014 → 1119

iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits
NM_014781.5 → NP_055596.3 RB1-inducible coiled-coil protein 1 isoform 1

See identical proteins and their annotated locations for NP_055596.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AB059622, AC090814, AC113139, BC017556, DA326842

Consensus CDS

CCDS34892.1

UniProtKB/Swiss-Prot

Q86YR4, Q8TDY2, Q8WVU9, Q92601

Related

ENSP00000025008.5, ENST00000025008.10

Conserved Domains (8) summary

COG1340
Location:1000 → 1265

COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]

pfam10377
Location:1439 → 1588

ATG11; Autophagy-related protein 11

pfam13851
Location:858 → 1073

GAS; Growth-arrest specific micro-tubule binding

cd16269
Location:1219 → 1230

GBP_C; coiled coil [structural motif]

cl00155
Location:3 → 77

UBQ; Ubiquitin-like proteins

cl02488
Location:886 → 1059

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

cl20817
Location:1142 → 1250

GBP_C; Guanylate-binding protein, C-terminal domain

cl23765
Location:1014 → 1119

iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000008.11 Reference GRCh38.p14 Primary Assembly

Range

52622458..52714435 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017014109.2 → XP_016869598.1 RB1-inducible coiled-coil protein 1 isoform X9
XM_011517645.3 → XP_011515947.1 RB1-inducible coiled-coil protein 1 isoform X8

Conserved Domains (8) summary

COG1340
Location:1000 → 1265

COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]

pfam10377
Location:1439 → 1565

ATG11; Autophagy-related protein 11

pfam13851
Location:858 → 1073

GAS; Growth-arrest specific micro-tubule binding

cd16269
Location:1219 → 1230

GBP_C; coiled coil [structural motif]

cl00155
Location:3 → 77

UBQ; Ubiquitin-like proteins

cl02488
Location:886 → 1059

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

cl20817
Location:1142 → 1250

GBP_C; Guanylate-binding protein, C-terminal domain

cl23765
Location:1014 → 1119

iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits
XM_011517644.4 → XP_011515946.1 RB1-inducible coiled-coil protein 1 isoform X7

Conserved Domains (8) summary

COG1340
Location:1000 → 1265

COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]

pfam10377
Location:1439 → 1568

ATG11; Autophagy-related protein 11

pfam13851
Location:858 → 1073

GAS; Growth-arrest specific micro-tubule binding

cd16269
Location:1219 → 1230

GBP_C; coiled coil [structural motif]

cl00155
Location:3 → 77

UBQ; Ubiquitin-like proteins

cl02488
Location:886 → 1059

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

cl20817
Location:1142 → 1250

GBP_C; Guanylate-binding protein, C-terminal domain

cl23765
Location:1014 → 1119

iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits
XM_017014108.3 → XP_016869597.1 RB1-inducible coiled-coil protein 1 isoform X6
XM_017014105.3 → XP_016869594.1 RB1-inducible coiled-coil protein 1 isoform X2
XM_017014106.3 → XP_016869595.1 RB1-inducible coiled-coil protein 1 isoform X4
XM_017014103.3 → XP_016869592.1 RB1-inducible coiled-coil protein 1 isoform X1
XM_017014107.3 → XP_016869596.1 RB1-inducible coiled-coil protein 1 isoform X5

UniProtKB/Swiss-Prot

Q8TDY2

Conserved Domains (8) summary

COG1340
Location:1000 → 1265

COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]

pfam10377
Location:1439 → 1585

ATG11; Autophagy-related protein 11

pfam13851
Location:858 → 1073

GAS; Growth-arrest specific micro-tubule binding

cd16269
Location:1219 → 1230

GBP_C; coiled coil [structural motif]

cl00155
Location:3 → 77

UBQ; Ubiquitin-like proteins

cl02488
Location:886 → 1059

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

cl20817
Location:1142 → 1250

GBP_C; Guanylate-binding protein, C-terminal domain

cl23765
Location:1014 → 1119

iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits
XM_011517643.2 → XP_011515945.1 RB1-inducible coiled-coil protein 1 isoform X3

See identical proteins and their annotated locations for XP_011515945.1

UniProtKB/Swiss-Prot

Q86YR4, Q8TDY2, Q8WVU9, Q92601

Conserved Domains (8) summary

COG1340
Location:1000 → 1265

COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]

pfam10377
Location:1439 → 1588

ATG11; Autophagy-related protein 11

pfam13851
Location:858 → 1073

GAS; Growth-arrest specific micro-tubule binding

cd16269
Location:1219 → 1230

GBP_C; coiled coil [structural motif]

cl00155
Location:3 → 77

UBQ; Ubiquitin-like proteins

cl02488
Location:886 → 1059

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

cl20817
Location:1142 → 1250

GBP_C; Guanylate-binding protein, C-terminal domain

cl23765
Location:1014 → 1119

iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits
XM_017014104.2 → XP_016869593.1 RB1-inducible coiled-coil protein 1 isoform X1
XM_047422494.1 → XP_047278450.1 RB1-inducible coiled-coil protein 1 isoform X1
XM_047422495.1 → XP_047278451.1 RB1-inducible coiled-coil protein 1 isoform X1
XM_047422497.1 → XP_047278453.1 RB1-inducible coiled-coil protein 1 isoform X13
XM_011517647.4 → XP_011515949.1 RB1-inducible coiled-coil protein 1 isoform X10

Conserved Domains (7) summary

COG1340
Location:1000 → 1265

COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]

pfam13851
Location:858 → 1073

GAS; Growth-arrest specific micro-tubule binding

cd16269
Location:1219 → 1230

GBP_C; coiled coil [structural motif]

cl00155
Location:3 → 77

UBQ; Ubiquitin-like proteins

cl02488
Location:886 → 1059

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

cl20817
Location:1142 → 1250

GBP_C; Guanylate-binding protein, C-terminal domain

cl23765
Location:1014 → 1119

iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits
XM_011517649.4 → XP_011515951.1 RB1-inducible coiled-coil protein 1 isoform X12

Conserved Domains (2) summary

COG0419
Location:843 → 1274

SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]

cd17060
Location:2 → 76

Ubl_RB1CC1; ubiquitin-like (Ubl) domain found in retinoblastoma 1-inducible coiled-coil protein 1 (RB1CC1) and similar proteins
XM_047422496.1 → XP_047278452.1 RB1-inducible coiled-coil protein 1 isoform X11