Seroatlas · Human Serome Atlas

CNTN1

Contactin-1

Also known as: CNTN1_HUMAN, F3, GP135

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

Protein identityUniProt · HPA

UniProt accession
Q12860
Gene
CNTN1
Ensembl
ENSG00000018236
Chromosome
12
Canonical length
1018 aa
Protein class
Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Secretome location
Intracellular and membrane

OverviewNCBI Gene

The protein encoded by this gene is a member of the immunoglobulin superfamily. It is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

Canonical amino-acid sequenceUniProt

1018 residues, UniProt reviewed canonical sequence.

>Q12860|CNTN1
     1  MKMWLLVSHL VIISITTCLA EFTWYRRYGH GVSEEDKGFG PIFEEQPINT IYPEESLEGK
    61  VSLNCRARAS PFPVYKWRMN NGDVDLTSDR YSMVGGNLVI NNPDKQKDAG IYYCLASNNY
   121  GMVRSTEATL SFGYLDPFPP EERPEVRVKE GKGMVLLCDP PYHFPDDLSY RWLLNEFPVF
   181  ITMDKRRFVS QTNGNLYIAN VEASDKGNYS CFVSSPSITK SVFSKFIPLI PIPERTTKPY
   241  PADIVVQFKD VYALMGQNVT LECFALGNPV PDIRWRKVLE PMPSTAEIST SGAVLKIFNI
   301  QLEDEGIYEC EAENIRGKDK HQARIYVQAF PEWVEHINDT EVDIGSDLYW PCVATGKPIP
   361  TIRWLKNGYA YHKGELRLYD VTFENAGMYQ CIAENTYGAI YANAELKILA LAPTFEMNPM
   421  KKKILAAKGG RVIIECKPKA APKPKFSWSK GTEWLVNSSR ILIWEDGSLE INNITRNDGG
   481  IYTCFAENNR GKANSTGTLV ITDPTRIILA PINADITVGE NATMQCAASF DPALDLTFVW
   541  SFNGYVIDFN KENIHYQRNF MLDSNGELLI RNAQLKHAGR YTCTAQTIVD NSSASADLVV
   601  RGPPGPPGGL RIEDIRATSV ALTWSRGSDN HSPISKYTIQ TKTILSDDWK DAKTDPPIIE
   661  GNMEAARAVD LIPWMEYEFR VVATNTLGRG EPSIPSNRIK TDGAAPNVAP SDVGGGGGRN
   721  RELTITWAPL SREYHYGNNF GYIVAFKPFD GEEWKKVTVT NPDTGRYVHK DETMSPSTAF
   781  QVKVKAFNNK GDGPYSLVAV INSAQDAPSE APTEVGVKVL SSSEISVHWE HVLEKIVESY
   841  QIRYWAAHDK EEAANRVQVT SQEYSARLEN LLPDTQYFIE VGACNSAGCG PPSDMIEAFT
   901  KKAPPSQPPR IISSVRSGSR YIITWDHVVA LSNESTVTGY KVLYRPDGQH DGKLYSTHKH
   961  SIEVPIPRDG EYVVEVRAHS DGGDGVVSQV KISGAPTLSP SLLGLLLPAF GILVYLEF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CNTN1 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
Cell surface
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.3
Highest tissue expression
121 nTPM

Expression across tissuesHPA

Tissue

  • cerebral cortex: 121 nTPM
  • cerebellum: 80 nTPM
  • amygdala: 67 nTPM
  • midbrain: 61 nTPM
  • hippocampal formation: 53 nTPM
  • spinal cord: 53 nTPM

Single-cell type

  • oligodendrocyte progenitor cells: 1,514 nCPM
  • brain excitatory neurons: 1,217 nCPM
  • astrocytes: 1,182 nCPM
  • lactotrophs: 813 nCPM
  • adrenal medulla cells: 798 nCPM
  • brain inhibitory neurons: 758 nCPM

Immune cell

  • basophil: 2.5 nTPM
  • neutrophil: 0.9 nTPM
  • plasmacytoid DC: 0.8 nTPM
  • NK-cell: 0.6 nTPM
  • eosinophil: 0.5 nTPM
  • classical monocyte: 0.4 nTPM

Brain region

  • white matter: 400 nTPM
  • spinal cord: 351 nTPM
  • cerebellum: 323 nTPM
  • midbrain: 279 nTPM
  • cerebral cortex: 266 nTPM
  • hippocampal formation: 261 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CNTN1.

Disease | AllUniProt

Conditions CNTN1 is implicated in, by any mechanism.

Disease | GeneticClinVar

23 pathogenic / likely-pathogenic of 729 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Compton-North congenital myopathy

Disease | ImmuneIEDB

Conditions an epitope on CNTN1 was assayed in.

Disease | AutoantibodyPubMed

Conditions in which antibodies against CNTN1 are reported. Each links to that disease's full target list.

ReferencesPubMed · IEDB

Publications for CNTN1 from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Reference: AutoantibodyPubMed

57 publications

Show 20 more of 57 total

Reference: T cellIEDB

1 publication

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. IEDB — curated epitope assays from the Immune Epitope Database (Vita et al., Nucleic Acids Research 2019). Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

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)
0.37
gnomAD pLI
0.15
gnomAD missense Z
2.05
DepMap mean gene effect
-0.2
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% 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 CNTN1 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 CNTN1 as an antibody target. Whether an autoantibody or antibody against CNTN1 could matter depends on whether native CNTN1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CNTN1 is annotated at the cell surface, where native CNTN1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label CNTN1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/CNTN1. 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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