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

Gene ID: 9821, updated on 1-Jun-2020

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
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

Genomic context

See RB1CC1 in Genome Data Viewer
Location:
8q11.23
Exon count:
28
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (52622458..52714466, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (53535018..53627026, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ST18-FAM150A intergenic CAGE-defined low expression enhancer Neighboring gene ALK and LTK ligand 1 Neighboring gene uncharacterized LOC105375835 Neighboring gene uncharacterized LOC107986943

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

HIV-1 interactions

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular adaptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
autophagosome assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
autophagy ISS
Inferred from Sequence or Structural Similarity
more info
 
autophagy of mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
autophagy of peroxisome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell cycle IEA
Inferred from Electronic Annotation
more info
 
glycophagy IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
heart development IEA
Inferred from Electronic Annotation
more info
 
liver development IEA
Inferred from Electronic Annotation
more info
 
macroautophagy TAS
Traceable Author Statement
more info
 
negative regulation of extrinsic apoptotic signaling pathway IEA
Inferred from Electronic Annotation
more info
 
piecemeal microautophagy of the nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of JNK cascade IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cell size IEA
Inferred from Electronic Annotation
more info
 
positive regulation of protein phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of macroautophagy TAS
Traceable Author Statement
more info
 
reticulophagy IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
Atg1/ULK1 kinase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Atg1/ULK1 kinase complex IPI
Inferred from Physical Interaction
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
extrinsic component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lysosome IDA
Inferred from Direct Assay
more info
PubMed 
nuclear membrane IDA
Inferred from Direct Assay
more info
 
phagophore assembly site IDA
Inferred from Direct Assay
more info
PubMed 
phagophore assembly site membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phagophore assembly site membrane ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

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)

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

  1. NG_015833.2 RefSeqGene

    Range
    5032..97009
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001083617.1NP_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:10001265
    COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
    pfam10377
    Location:14391585
    ATG11; Autophagy-related protein 11
    pfam13851
    Location:8581073
    GAS; Growth-arrest specific micro-tubule binding
    cd16269
    Location:12191230
    GBP_C; coiled coil [structural motif]
    cl00155
    Location:377
    UBQ; Ubiquitin-like proteins
    cl02488
    Location:8861059
    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:11421250
    GBP_C; Guanylate-binding protein, C-terminal domain
    cl23765
    Location:10141119
    iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits
  2. NM_014781.5NP_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
    Q8TDY2
    Related
    ENSP00000025008.5, ENST00000025008.10
    Conserved Domains (8) summary
    COG1340
    Location:10001265
    COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
    pfam10377
    Location:14391588
    ATG11; Autophagy-related protein 11
    pfam13851
    Location:8581073
    GAS; Growth-arrest specific micro-tubule binding
    cd16269
    Location:12191230
    GBP_C; coiled coil [structural motif]
    cl00155
    Location:377
    UBQ; Ubiquitin-like proteins
    cl02488
    Location:8861059
    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:11421250
    GBP_C; Guanylate-binding protein, C-terminal domain
    cl23765
    Location:10141119
    iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    52622458..52714466 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017014104.1XP_016869593.1  RB1-inducible coiled-coil protein 1 isoform X1

  2. XM_017014112.2XP_016869601.1  RB1-inducible coiled-coil protein 1 isoform X15

  3. XM_017014111.2XP_016869600.1  RB1-inducible coiled-coil protein 1 isoform X14

    Conserved Domains (4) summary
    COG1340
    Location:457722
    COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
    pfam10377
    Location:8961045
    ATG11; Autophagy-related protein 11
    cl02488
    Location:343516
    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; ...
    cl23765
    Location:471576
    iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits
  4. XM_017014110.2XP_016869599.1  RB1-inducible coiled-coil protein 1 isoform X13

  5. XM_011517645.2XP_011515947.1  RB1-inducible coiled-coil protein 1 isoform X8

    Conserved Domains (8) summary
    COG1340
    Location:10001265
    COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
    pfam10377
    Location:14391565
    ATG11; Autophagy-related protein 11
    pfam13851
    Location:8581073
    GAS; Growth-arrest specific micro-tubule binding
    cd16269
    Location:12191230
    GBP_C; coiled coil [structural motif]
    cl00155
    Location:377
    UBQ; Ubiquitin-like proteins
    cl02488
    Location:8861059
    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:11421250
    GBP_C; Guanylate-binding protein, C-terminal domain
    cl23765
    Location:10141119
    iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits
  6. XM_017014108.2XP_016869597.1  RB1-inducible coiled-coil protein 1 isoform X6

  7. XM_017014105.2XP_016869594.1  RB1-inducible coiled-coil protein 1 isoform X2

  8. XM_017014106.2XP_016869595.1  RB1-inducible coiled-coil protein 1 isoform X4

  9. XM_017014103.2XP_016869592.1  RB1-inducible coiled-coil protein 1 isoform X1

  10. XM_017014107.2XP_016869596.1  RB1-inducible coiled-coil protein 1 isoform X5

    UniProtKB/Swiss-Prot
    Q8TDY2
    Conserved Domains (8) summary
    COG1340
    Location:10001265
    COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
    pfam10377
    Location:14391585
    ATG11; Autophagy-related protein 11
    pfam13851
    Location:8581073
    GAS; Growth-arrest specific micro-tubule binding
    cd16269
    Location:12191230
    GBP_C; coiled coil [structural motif]
    cl00155
    Location:377
    UBQ; Ubiquitin-like proteins
    cl02488
    Location:8861059
    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:11421250
    GBP_C; Guanylate-binding protein, C-terminal domain
    cl23765
    Location:10141119
    iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits
  11. XM_017014109.1XP_016869598.1  RB1-inducible coiled-coil protein 1 isoform X9

  12. XM_011517643.2XP_011515945.1  RB1-inducible coiled-coil protein 1 isoform X3

    See identical proteins and their annotated locations for XP_011515945.1

    UniProtKB/Swiss-Prot
    Q8TDY2
    Conserved Domains (8) summary
    COG1340
    Location:10001265
    COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
    pfam10377
    Location:14391588
    ATG11; Autophagy-related protein 11
    pfam13851
    Location:8581073
    GAS; Growth-arrest specific micro-tubule binding
    cd16269
    Location:12191230
    GBP_C; coiled coil [structural motif]
    cl00155
    Location:377
    UBQ; Ubiquitin-like proteins
    cl02488
    Location:8861059
    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:11421250
    GBP_C; Guanylate-binding protein, C-terminal domain
    cl23765
    Location:10141119
    iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits
  13. XM_011517646.3XP_011515948.1  RB1-inducible coiled-coil protein 1 isoform X10

    Conserved Domains (7) summary
    COG1340
    Location:9481213
    COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
    pfam10377
    Location:13871536
    ATG11; Autophagy-related protein 11
    pfam13851
    Location:8061021
    GAS; Growth-arrest specific micro-tubule binding
    cd16269
    Location:11671178
    GBP_C; coiled coil [structural motif]
    cl02488
    Location:8341007
    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:10901198
    GBP_C; Guanylate-binding protein, C-terminal domain
    cl23765
    Location:9621067
    iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits
  14. XM_011517644.3XP_011515946.1  RB1-inducible coiled-coil protein 1 isoform X7

    Conserved Domains (8) summary
    COG1340
    Location:10001265
    COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
    pfam10377
    Location:14391568
    ATG11; Autophagy-related protein 11
    pfam13851
    Location:8581073
    GAS; Growth-arrest specific micro-tubule binding
    cd16269
    Location:12191230
    GBP_C; coiled coil [structural motif]
    cl00155
    Location:377
    UBQ; Ubiquitin-like proteins
    cl02488
    Location:8861059
    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:11421250
    GBP_C; Guanylate-binding protein, C-terminal domain
    cl23765
    Location:10141119
    iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits
  15. XM_011517647.3XP_011515949.1  RB1-inducible coiled-coil protein 1 isoform X11

    Conserved Domains (7) summary
    COG1340
    Location:10001265
    COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
    pfam13851
    Location:8581073
    GAS; Growth-arrest specific micro-tubule binding
    cd16269
    Location:12191230
    GBP_C; coiled coil [structural motif]
    cl00155
    Location:377
    UBQ; Ubiquitin-like proteins
    cl02488
    Location:8861059
    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:11421250
    GBP_C; Guanylate-binding protein, C-terminal domain
    cl23765
    Location:10141119
    iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits
  16. XM_011517649.3XP_011515951.1  RB1-inducible coiled-coil protein 1 isoform X12

    Conserved Domains (5) summary
    COG1340
    Location:10001265
    COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
    pfam13851
    Location:8581073
    GAS; Growth-arrest specific micro-tubule binding
    cl00155
    Location:377
    UBQ; Ubiquitin-like proteins
    cl02488
    Location:8861059
    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; ...
    cl23765
    Location:10141119
    iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits

RNA

  1. XR_928826.3 RNA Sequence

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