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

Gene ID: 9821, updated on 23-May-2015
Official Symbol
RB1CC1provided by HGNC
Official Full Name
RB1-inducible coiled-coil 1provided by HGNC
Primary source
HGNC:HGNC:15574
See related
Ensembl:ENSG00000023287; HPRD:06019; MIM:606837; Vega:OTTHUMG00000164268
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]
Orthologs
See RB1CC1 in MapViewer
Location:
8q11
Exon count:
28
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 suppression of tumorigenicity 18, zinc finger Neighboring gene ribosomal protein L34 pseudogene 17 Neighboring gene family with sequence similarity 150, member A Neighboring gene uncharacterized LOC105375835 Neighboring gene E3 ubiquitin-protein ligase RING2-like Neighboring gene neuropeptides B/W receptor 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase binding IBA
Inferred from Biological aspect of Ancestor
more info
 
Process Evidence Code Pubs
JNK cascade IEA
Inferred from Electronic Annotation
more info
 
autophagosome assembly IBA
Inferred from Biological aspect of Ancestor
more info
 
cell cycle IEA
Inferred from Electronic Annotation
more info
 
heart development IEA
Inferred from Electronic Annotation
more info
 
liver development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of extrinsic apoptotic signaling pathway 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
 
regulation of autophagy ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
ATG1/UKL1 signaling complex IBA
Inferred from Biological aspect of Ancestor
more info
 
ULK1-ATG13-FIP200 complex IPI
Inferred from Physical Interaction
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
 
cytosol IEA
Inferred from Electronic Annotation
more info
 
nuclear membrane IDA
Inferred from Direct Assay
more info
 
pre-autophagosomal structure membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
pre-autophagosomal structure membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
Preferred Names
RB1-inducible coiled-coil protein 1
Names
RB1-inducible coiled-coil protein 1
200 kDa FAK family kinase-interacting protein
FAK family kinase-interacting protein of 200 kDa
phosphatase 1, regulatory subunit 131

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_015833.1 RefSeqGene

    Range
    5001..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, OTTHUMP00000226291, ENST00000435644, OTTHUMT00000378012
    Conserved Domains (6) summary
    pfam03904
    Location:10141119
    DUF334; Domain of unknown function (DUF334)
    COG1340
    Location:10001265
    COG1340; Uncharacterized archaeal coiled-coil protein [Function unknown]
    pfam10377
    Location:14621587
    ATG11; Autophagy-related protein 11
    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; ...
    cl00155
    Location:377
    UBQ; Ubiquitin-like proteins
    cl21485
    Location:11861273
    OmpH; Outer membrane protein (OmpH-like)
  2. NM_014781.4NP_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, OTTHUMP00000226290, ENST00000025008, OTTHUMT00000378011
    Conserved Domains (6) summary
    pfam03904
    Location:10141119
    DUF334; Domain of unknown function (DUF334)
    COG1340
    Location:10001265
    COG1340; Uncharacterized archaeal coiled-coil protein [Function unknown]
    pfam10377
    Location:14621590
    ATG11; Autophagy-related protein 11
    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; ...
    cl00155
    Location:377
    UBQ; Ubiquitin-like proteins
    cl21485
    Location:11861273
    OmpH; Outer membrane protein (OmpH-like)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p2 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011517646.1XP_011515948.1  

    Conserved Domains (5) summary
    pfam03904
    Location:9621067
    DUF334; Domain of unknown function (DUF334)
    COG1340
    Location:9481213
    COG1340; Uncharacterized archaeal coiled-coil protein [Function unknown]
    pfam10377
    Location:14101538
    ATG11; Autophagy-related protein 11
    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; ...
    cl21485
    Location:11221221
    OmpH; Outer membrane protein (OmpH-like)
  2. XM_011517645.1XP_011515947.1  

    Conserved Domains (6) summary
    pfam03904
    Location:10141119
    DUF334; Domain of unknown function (DUF334)
    COG1340
    Location:10001265
    COG1340; Uncharacterized archaeal coiled-coil protein [Function unknown]
    pfam10377
    Location:14621565
    ATG11; Autophagy-related protein 11
    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; ...
    cl00155
    Location:377
    UBQ; Ubiquitin-like proteins
    cl21485
    Location:11741273
    OmpH; Outer membrane protein (OmpH-like)
  3. XM_011517644.1XP_011515946.1  

    Conserved Domains (6) summary
    pfam03904
    Location:10141119
    DUF334; Domain of unknown function (DUF334)
    COG1340
    Location:10001265
    COG1340; Uncharacterized archaeal coiled-coil protein [Function unknown]
    pfam10377
    Location:14621568
    ATG11; Autophagy-related protein 11
    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; ...
    cl00155
    Location:377
    UBQ; Ubiquitin-like proteins
    cl21485
    Location:11861273
    OmpH; Outer membrane protein (OmpH-like)
  4. XM_011517643.1XP_011515945.1  

    See identical proteins and their annotated locations for XP_011515945.1

    Conserved Domains (6) summary
    pfam03904
    Location:10141119
    DUF334; Domain of unknown function (DUF334)
    COG1340
    Location:10001265
    COG1340; Uncharacterized archaeal coiled-coil protein [Function unknown]
    pfam10377
    Location:14621590
    ATG11; Autophagy-related protein 11
    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; ...
    cl00155
    Location:377
    UBQ; Ubiquitin-like proteins
    cl21485
    Location:11861273
    OmpH; Outer membrane protein (OmpH-like)
  5. XM_011517650.1XP_011515952.1  

    Conserved Domains (5) summary
    pfam03904
    Location:471576
    DUF334; Domain of unknown function (DUF334)
    COG1340
    Location:457722
    COG1340; Uncharacterized archaeal coiled-coil protein [Function unknown]
    pfam10377
    Location:9191047
    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; ...
    cl21485
    Location:643730
    OmpH; Outer membrane protein (OmpH-like)
  6. XM_011517647.1XP_011515949.1  

    Conserved Domains (5) summary
    pfam03904
    Location:10141119
    DUF334; Domain of unknown function (DUF334)
    COG1340
    Location:10001265
    COG1340; Uncharacterized archaeal coiled-coil protein [Function unknown]
    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; ...
    cl00155
    Location:377
    UBQ; Ubiquitin-like proteins
    cl21485
    Location:11861273
    OmpH; Outer membrane protein (OmpH-like)
  7. XM_011517649.1XP_011515951.1  

    Conserved Domains (5) summary
    pfam03904
    Location:10141119
    DUF334; Domain of unknown function (DUF334)
    COG1340
    Location:10001265
    COG1340; Uncharacterized archaeal coiled-coil protein [Function unknown]
    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; ...
    cl00155
    Location:377
    UBQ; Ubiquitin-like proteins
    cl21485
    Location:11741277
    OmpH; Outer membrane protein (OmpH-like)
  8. XM_011517648.1XP_011515950.1  

    Conserved Domains (5) summary
    pfam03904
    Location:10141119
    DUF334; Domain of unknown function (DUF334)
    COG1340
    Location:10001265
    COG1340; Uncharacterized archaeal coiled-coil protein [Function unknown]
    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; ...
    cl00155
    Location:377
    UBQ; Ubiquitin-like proteins
    cl21485
    Location:11741273
    OmpH; Outer membrane protein (OmpH-like)

RNA

  1. XR_928826.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018919.2 Alternate CHM1_1.1

    Range
    53587331..53679316
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)