Seroatlas · Human Serome Atlas

DISC1

Disrupted in schizophrenia 1 protein

Also known as: DISC1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q9NRI5
Gene
DISC1
Ensembl
ENSG00000162946
Chromosome
1
Canonical length
854 aa
Protein class
Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location
Intermediate filaments,Cytosol

OverviewNCBI Gene

This gene encodes a protein with multiple coiled coil motifs which is located in the nucleus, cytoplasm and mitochondria. The protein is involved in neurite outgrowth and cortical development through its interaction with other proteins. This gene is disrupted in a t(1;11)(q42.1;q14.3) translocation which segregates with schizophrenia and related psychiatric disorders in a large Scottish family. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

854 residues, UniProt reviewed canonical sequence.

>Q9NRI5|DISC1
     1  MPGGGPQGAP AAAGGGGVSH RAGSRDCLPP AACFRRRRLA RRPGYMRSST GPGIGFLSPA
    61  VGTLFRFPGG VSGEESHHSE SRARQCGLDS RGLLVRSPVS KSAAAPTVTS VRGTSAHFGI
   121  QLRGGTRLPD RLSWPCGPGS AGWQQEFAAM DSSETLDASW EAACSDGARR VRAAGSLPSA
   181  ELSSNSCSPG CGPEVPPTPP GSHSAFTSSF SFIRLSLGSA GERGEAEGCP PSREAESHCQ
   241  SPQEMGAKAA SLDGPHEDPR CLSRPFSLLA TRVSADLAQA ARNSSRPERD MHSLPDMDPG
   301  SSSSLDPSLA GCGGDGSSGS GDAHSWDTLL RKWEPVLRDC LLRNRRQMEV ISLRLKLQKL
   361  QEDAVENDDY DKAETLQQRL EDLEQEKISL HFQLPSRQPA LSSFLGHLAA QVQAALRRGA
   421  TQQASGDDTH TPLRMEPRLL EPTAQDSLHV SITRRDWLLQ EKQQLQKEIE ALQARMFVLE
   481  AKDQQLRREI EEQEQQLQWQ GCDLTPLVGQ LSLGQLQEVS KALQDTLASA GQIPFHAEPP
   541  ETIRSLQERI KSLNLSLKEI TTKVCMSEKF CSTLRKKVND IETQLPALLE AKMHAISGNH
   601  FWTAKDLTEE IRSLTSEREG LEGLLSKLLV LSSRNVKKLG SVKEDYNRLR REVEHQETAY
   661  ETSVKENTMK YMETLKNKLC SCKCPLLGKV WEADLEACRL LIQSLQLQEA RGSLSVEDER
   721  QMDDLEGAAP PIPPRLHSED KRKTPLKVLE EWKTHLIPSL HCAGGEQKEE SYILSAELGE
   781  KCEDIGKKLL YLEDQLHTAI HSHDEDLIQS LRRELQMVKE TLQAMILQLQ PAKEAGEREA
   841  AASCMTAGVH EAQA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DISC1 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)
0.54
Highest tissue expression
20 nTPM

Expression across tissuesHPA

Tissue

  • retina: 20 nTPM
  • heart muscle: 8.4 nTPM
  • placenta: 6.8 nTPM
  • ovary: 4.6 nTPM
  • amygdala: 3.7 nTPM
  • hippocampal formation: 3.5 nTPM

Single-cell type

  • cardiomyocytes: 3,200 nCPM
  • microglia: 1,144 nCPM
  • rod photoreceptor cells: 867 nCPM
  • oligodendrocyte progenitor cells: 793 nCPM
  • neutrophils: 600 nCPM
  • macrophages: 317 nCPM

Immune cell

  • myeloid DC: 1 nTPM
  • classical monocyte: 0.8 nTPM
  • intermediate monocyte: 0.8 nTPM
  • neutrophil: 0.7 nTPM
  • plasmacytoid DC: 0.6 nTPM
  • memory CD4 T-cell: 0.4 nTPM

Brain region

  • white matter: 19 nTPM
  • thalamus: 18 nTPM
  • pons: 17 nTPM
  • medulla oblongata: 17 nTPM
  • cerebral cortex: 16 nTPM
  • spinal cord: 14 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DISC1.

Disease | AllUniProt

Conditions DISC1 is implicated in, by any mechanism.

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)
0.79
gnomAD pLI
0
gnomAD missense Z
0.41
DepMap mean gene effect
0.07
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% 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

  • Disrupted in schizophrenia 1

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of DISC1 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 DISC1 as an antibody target. Whether an autoantibody or antibody against DISC1 could matter depends on whether native DISC1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DISC1 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 DISC1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/DISC1. 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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