Seroatlas · Human Serome Atlas

RB1CC1

RB1-inducible coiled-coil protein 1

Also known as: ATG17, Cc1, DRAGOU14, FIP200, KIAA0203, PPP1R131, RBCC1_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q8TDY2
Gene: RB1CC1
Ensembl: ENSG00000023287
Chromosome: 8
Canonical length: 1594 aa
Protein class: Human disease related genes, Predicted intracellular proteins
Subcellular location: Nuclear membrane,Cytosol

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

1594 residues, UniProt reviewed canonical sequence.

>Q8TDY2|RB1CC1
     1  MKLYVFLVNT GTTLTFDTEL TVQTVADLKH AIQSKYKIAI QHQVLVVNGG ECMAADRRVC
    61  TYSAGTDTNP IFLFNKEMIL CDRPPAIPKT TFSTENDMEI KVEESLMMPA VFHTVASRTQ
   121  LALEMYEVAK KLCSFCEGLV HDEHLQHQGW AAIMANLEDC SNSYQKLLFK FESIYSNYLQ
   181  SIEDIKLKLT HLGTAVSVMA KIPLLECLTR HSYRECLGRL DSLPEHEDSE KAEMKRSTEL
   241  VLSPDMPRTT NESLLTSFPK SVEHVSPDTA DAESGKEIRE SCQSTVHQQD ETTIDTKDGD
   301  LPFFNVSLLD WINVQDRPND VESLVRKCFD SMSRLDPRII RPFIAECRQT IAKLDNQNMK
   361  AIKGLEDRLY ALDQMIASCG RLVNEQKELA QGFLANQKRA ENLKDASVLP DLCLSHANQL
   421  MIMLQNHRKL LDIKQKCTTA KQELANNLHV RLKWCCFVML HADQDGEKLQ ALLRLVIELL
   481  ERVKIVEALS TVPQMYCLAV VEVVRRKMFI KHYREWAGAL VKDGKRLYEA EKSKRESFGK
   541  LFRKSFLRNR LFRGLDSWPP SFCTQKPRKF DCELPDISLK DLQFLQSFCP SEVQPFLRVP
   601  LLCDFEPLHQ HVLALHNLVK AAQSLDEMSQ TITDLLSEQK ASVSQTSPQS ASSPRMESTA
   661  GITTTTSPRT PPPLTVQDPL CPAVCPLEEL SPDSIDAHTF DFETIPHPNI EQTIHQVSLD
   721  LDSLAESPES DFMSAVNEFV IEENLSSPNP ISDPQSPEMM VESLYSSVIN AIDSRRMQDT
   781  NVCGKEDFGD HTSLNVQLER CRVVAQDSHF SIQTIKEDLC HFRTFVQKEQ CDFSNSLKCT
   841  AVEIRNIIEK VKCSLEITLK EKHQKELLSL KNEYEGKLDG LIKETEENEN KIKKLKGELV
   901  CLEEVLQNKD NEFALVKHEK EAVICLQNEK DQKLLEMENI MHSQNCEIKE LKQSREIVLE
   961  DLKKLHVEND EKLQLLRAEL QSLEQSHLKE LEDTLQVRHI QEFEKVMTDH RVSLEELKKE
  1021  NQQIINQIQE SHAEIIQEKE KQLQELKLKV SDLSDTRCKL EVELALKEAE TDEIKILLEE
  1081  SRAQQKETLK SLLEQETENL RTEISKLNQK IQDNNENYQV GLAELRTLMT IEKDQCISEL
  1141  ISRHEEESNI LKAELNKVTS LHNQAFEIEK NLKEQIIELQ SKLDSELSAL ERQKDEKITQ
  1201  QEEKYEAIIQ NLEKDRQKLV SSQEQDREQL IQKLNCEKDE AIQTALKEFK LEREVVEKEL
  1261  LEKVKHLENQ IAKSPAIDST RGDSSSLVAE LQEKLQEEKA KFLEQLEEQE KRKNEEMQNV
  1321  RTSLIAEQQT NFNTVLTREK MRKENIINDL SDKLKSTMQQ QERDKDLIES LSEDRARLLE
  1381  EKKKLEEEVS KLRSSSFVPS PYVATAPELY GACAPELPGE SDRSAVETAD EGRVDSAMET
  1441  SMMSVQENIH MLSEEKQRIM LLERTLQLKE EENKRLNQRL MSQSMSSVSS RHSEKIAIRD
  1501  FQVGDLVLII LDERHDNYVL FTVSPTLYFL HSESLPALDL KPGEGASGAS RRPWVLGKVM
  1561  EKEYCQAKKA QNRFKVPLGT KFYRVKAVSW NKKV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RB1CC1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.44
Highest tissue expression: 49 nTPM

Expression across tissuesHPA

Tissue

bone marrow: 49 nTPM
cerebral cortex: 41 nTPM
skeletal muscle: 37 nTPM
amygdala: 35 nTPM
testis: 32 nTPM
tongue: 30 nTPM

Single-cell type

epicardial cells: 730 nCPM
neutrophils: 720 nCPM
cardiomyocytes: 716 nCPM
endometrial glandular cells: 429 nCPM
thymic myoid cells: 367 nCPM
pancreatic acinar cells: 357 nCPM

Immune cell

basophil: 48 nTPM
neutrophil: 41 nTPM
eosinophil: 25 nTPM
non-classical monocyte: 17 nTPM
NK-cell: 14 nTPM
T-reg: 14 nTPM

Brain region

white matter: 94 nTPM
amygdala: 85 nTPM
cerebral cortex: 76 nTPM
thalamus: 76 nTPM
medulla oblongata: 63 nTPM
cerebellum: 62 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RB1CC1.

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 234 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.14
gnomAD pLI: 1
gnomAD missense Z: 0.81
DepMap mean gene effect: -0.22
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

Autophagy-related protein 11, C-terminal
Autophagy-related protein 11
Autophagy-related protein 11

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of RB1CC1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads RB1CC1 as an antibody target. Whether an autoantibody or antibody against RB1CC1 could matter depends on whether native RB1CC1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RB1CC1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label RB1CC1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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