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

    Gene ID: 9821, updated on 19-Sep-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See RB1CC1 in Genome Data Viewer
    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_000008.11Genomic Context describing neighboring genes Neighboring gene ST18 C2H2C-type zinc finger transcription factor Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27345 Neighboring gene MPRA-validated peak7016 silencer Neighboring gene ribosomal protein L34 pseudogene 17 Neighboring gene ST18-FAM150A intergenic CAGE-defined low expression enhancer Neighboring gene MED14-independent group 3 enhancer GRCh37_chr8:53458378-53459577 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:53476246-53477222 Neighboring gene MPRA-validated peak7018 silencer Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr8:53512288-53512788 Neighboring gene ALK and LTK ligand 1 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:53541841-53542555 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr8:53567139-53567638 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr8:53566637-53567138 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19188 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19189 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19190 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19191 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27347 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27348 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:53650644-53651144 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:53651145-53651645 Neighboring gene uncharacterized LOC105375835 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:53676283-53677482 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27349 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:53764919-53765152 Neighboring gene uncharacterized LOC107986943

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    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

    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)

    NEW Try the new Transcript table

    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_001083617.2NP_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
      Q86YR4, Q8TDY2, Q8WVU9, Q92601
      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: 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

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      52622458..52714435 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017014109.2XP_016869598.1  RB1-inducible coiled-coil protein 1 isoform X9

    2. XM_011517645.3XP_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
    3. XM_011517644.4XP_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
    4. XM_017014108.3XP_016869597.1  RB1-inducible coiled-coil protein 1 isoform X6

    5. XM_017014105.3XP_016869594.1  RB1-inducible coiled-coil protein 1 isoform X2

    6. XM_017014106.3XP_016869595.1  RB1-inducible coiled-coil protein 1 isoform X4

    7. XM_017014103.3XP_016869592.1  RB1-inducible coiled-coil protein 1 isoform X1

    8. XM_017014107.3XP_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
    9. 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
      Q86YR4, Q8TDY2, Q8WVU9, Q92601
      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
    10. XM_017014104.2XP_016869593.1  RB1-inducible coiled-coil protein 1 isoform X1

    11. XM_047422494.1XP_047278450.1  RB1-inducible coiled-coil protein 1 isoform X1

    12. XM_047422495.1XP_047278451.1  RB1-inducible coiled-coil protein 1 isoform X1

    13. XM_047422497.1XP_047278453.1  RB1-inducible coiled-coil protein 1 isoform X13

    14. XM_011517647.4XP_011515949.1  RB1-inducible coiled-coil protein 1 isoform X10

      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
    15. XM_011517649.4XP_011515951.1  RB1-inducible coiled-coil protein 1 isoform X12

      Conserved Domains (2) summary
      COG0419
      Location:8431274
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      cd17060
      Location:276
      Ubl_RB1CC1; ubiquitin-like (Ubl) domain found in retinoblastoma 1-inducible coiled-coil protein 1 (RB1CC1) and similar proteins
    16. XM_047422496.1XP_047278452.1  RB1-inducible coiled-coil protein 1 isoform X11

    RNA

    1. XR_928826.4 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      52998490..53090429 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054361627.1XP_054217602.1  RB1-inducible coiled-coil protein 1 isoform X9

    2. XM_054361626.1XP_054217601.1  RB1-inducible coiled-coil protein 1 isoform X8

    3. XM_054361625.1XP_054217600.1  RB1-inducible coiled-coil protein 1 isoform X7

    4. XM_054361624.1XP_054217599.1  RB1-inducible coiled-coil protein 1 isoform X6

    5. XM_054361620.1XP_054217595.1  RB1-inducible coiled-coil protein 1 isoform X2

    6. XM_054361622.1XP_054217597.1  RB1-inducible coiled-coil protein 1 isoform X4

    7. XM_054361616.1XP_054217591.1  RB1-inducible coiled-coil protein 1 isoform X1

    8. XM_054361623.1XP_054217598.1  RB1-inducible coiled-coil protein 1 isoform X5

    9. XM_054361621.1XP_054217596.1  RB1-inducible coiled-coil protein 1 isoform X3

    10. XM_054361617.1XP_054217592.1  RB1-inducible coiled-coil protein 1 isoform X1

    11. XM_054361618.1XP_054217593.1  RB1-inducible coiled-coil protein 1 isoform X1

    12. XM_054361619.1XP_054217594.1  RB1-inducible coiled-coil protein 1 isoform X1

    13. XM_054361631.1XP_054217606.1  RB1-inducible coiled-coil protein 1 isoform X13

    14. XM_054361628.1XP_054217603.1  RB1-inducible coiled-coil protein 1 isoform X10

    15. XM_054361630.1XP_054217605.1  RB1-inducible coiled-coil protein 1 isoform X12

    16. XM_054361629.1XP_054217604.1  RB1-inducible coiled-coil protein 1 isoform X11

    RNA

    1. XR_008487912.1 RNA Sequence