Seroatlas · Human Serome Atlas

CDKN1C

Cyclin-dependent kinase inhibitor 1C

Also known as: BWCR, BWS, CDN1C_HUMAN, KIP2, P57

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

Protein identityUniProt · HPA

UniProt accession
P49918
Gene
CDKN1C
Ensembl
ENSG00000129757
Chromosome
11
Canonical length
316 aa
Protein class
Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Nuclear bodies,Cytosol

OverviewNCBI Gene

This gene is imprinted, with preferential expression of the maternal allele. The encoded protein is a tight-binding, strong inhibitor of several G1 cyclin/Cdk complexes and a negative regulator of cell proliferation. Mutations in this gene are implicated in sporadic cancers and Beckwith-Wiedemann syndorome, suggesting that this gene is a tumor suppressor candidate. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]

Canonical amino-acid sequenceUniProt

316 residues, UniProt reviewed canonical sequence.

>P49918|CDKN1C
     1  MSDASLRSTS TMERLVARGT FPVLVRTSAC RSLFGPVDHE ELSRELQARL AELNAEDQNR
    61  WDYDFQQDMP LRGPGRLQWT EVDSDSVPAF YRETVQVGRC RLLLAPRPVA VAVAVSPPLE
   121  PAAESLDGLE EAPEQLPSVP VPAPASTPPP VPVLAPAPAP APAPVAAPVA APVAVAVLAP
   181  APAPAPAPAP APAPVAAPAP APAPAPAPAP APAPAPDAAP QESAEQGANQ GQRGQEPLAD
   241  QLHSGISGRP AAGTAAASAN GAAIKKLSGP LISDFFAKRK RSAPEKSSGD VPAPCPSPSA
   301  APGVGSVEQT PRKRLR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CDKN1C 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)
0.7
Highest tissue expression
192 nTPM

Expression across tissuesHPA

Tissue

  • spinal cord: 192 nTPM
  • ovary: 188 nTPM
  • adrenal gland: 171 nTPM
  • kidney: 136 nTPM
  • adipose tissue: 114 nTPM
  • breast: 85 nTPM

Single-cell type

  • syncytiotrophoblasts: 618 nCPM
  • podocytes: 513 nCPM
  • extravillous trophoblasts: 506 nCPM
  • late spermatids: 234 nCPM
  • early spermatids: 148 nCPM
  • cytotrophoblasts: 147 nCPM

Immune cell

  • non-classical monocyte: 288 nTPM
  • intermediate monocyte: 118 nTPM
  • myeloid DC: 23 nTPM
  • total PBMC: 13 nTPM
  • basophil: 8.1 nTPM
  • neutrophil: 1.8 nTPM

Brain region

  • white matter: 211 nTPM
  • medulla oblongata: 130 nTPM
  • cerebellum: 105 nTPM
  • pons: 99 nTPM
  • basal ganglia: 91 nTPM
  • thalamus: 86 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CDKN1C.

Disease | AllUniProt

Conditions CDKN1C is implicated in, by any mechanism.

  • Beckwith-Wiedemann syndrome (BWS) MIM:130650
  • Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE) MIM:614732

Disease | GeneticClinVar

128 pathogenic / likely-pathogenic of 1,279 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)
0.53
gnomAD pLI
0.82
gnomAD missense Z
1.93
DepMap mean gene effect
0.09
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% 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

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of CDKN1C 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 CDKN1C as an antibody target. Whether an autoantibody or antibody against CDKN1C could matter depends on whether native CDKN1C is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CDKN1C 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 CDKN1C as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/CDKN1C. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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