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DISC1 disrupted in schizophrenia 1 [ Homo sapiens (human) ]

Gene ID: 27185, updated on 26-Aug-2014
Official Symbol
DISC1provided by HGNC
Official Full Name
disrupted in schizophrenia 1provided by HGNC
Primary source
HGNC:2888
Locus tag
RP4-730B13.1
See related
Ensembl:ENSG00000162946; HPRD:05553; MIM:605210; Vega:OTTHUMG00000037835
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
SCZD9; C1orf136
Summary
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]
See DISC1 in Epigenomics, MapViewer
Location:
1q42.1
Exon count:
19
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 1 NC_000001.11 (231626815..232041272)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (231762561..232177018)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene TSNAX-DISC1 readthrough (NMD candidate) Neighboring gene translin-associated factor X Neighboring gene long intergenic non-protein coding RNA 582 Neighboring gene RNA, U5A small nuclear 5, pseudogene Neighboring gene disrupted in schizophrenia 2 (non-protein coding) Neighboring gene uncharacterized LOC101927660 Neighboring gene signal-induced proliferation-associated 1 like 2

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Schizophrenia
MedGen: C0036341 OMIM: 181500 GeneReviews: Not available
Compare labs
Schizophrenia 9
MedGen: C1858050 OMIM: 604906 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated (2012-03-06)

ISCA Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated (2012-03-06)

ISCA Genome Curation Page

NHGRI GWAS Catalog

Description
Association between single nucleotide polymorphism-genotype and outcome of patients with chronic lymphocytic leukemia in a randomized chemotherapy trial.
NHGRI GWA Catalog
Genome-wide association of lipid-lowering response to statins in combined study populations.
NHGRI GWA Catalog
Genome-wide association study implicates a chromosome 12 risk locus for late-onset Alzheimer disease.
NHGRI GWA Catalog
Impact of DISC1 variation on neuroanatomical and neurocognitive phenotypes.
NHGRI GWA Catalog
Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Readthrough TSNAX-DISC1

Readthrough gene: TSNAX-DISC1, Included gene: TSNAX

Homology

Clone Names

  • FLJ13381, FLJ21640, FLJ25311, FLJ41105, KIAA0457

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
TOR signaling IEA
Inferred from Electronic Annotation
more info
 
canonical Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
 
cell proliferation in forebrain IEA
Inferred from Electronic Annotation
more info
 
cerebral cortex radially oriented cell migration IEA
Inferred from Electronic Annotation
more info
 
microtubule cytoskeleton organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrial calcium ion homeostasis IEA
Inferred from Electronic Annotation
more info
 
neuron migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of Wnt signaling pathway IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of neuroblast proliferation IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process IEA
Inferred from Electronic Annotation
more info
 
protein localization IEA
Inferred from Electronic Annotation
more info
 
regulation of neuron projection development IEA
Inferred from Electronic Annotation
more info
 
regulation of synapse maturation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cell junction IEA
Inferred from Electronic Annotation
more info
 
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
microtubule IEA
Inferred from Electronic Annotation
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
 
postsynaptic density IEA
Inferred from Electronic Annotation
more info
 
postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
disrupted in schizophrenia 1 protein
Names
disrupted in schizophrenia 1 protein

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_011681.1 

    Range
    5001..419458
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001012957.1NP_001012975.1  disrupted in schizophrenia 1 protein isoform Lv

    See proteins identical to NP_001012975.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (Lv) has an alternate splice site in the 3' coding region, as compared to variant L. The reading frame is not changed, and the resulting isoform (Lv, also known as the "Long variant" isoform) lacks an internal segment, as compared to isoform L.
    Source sequence(s)
    AB007926, AI075754, AJ506177, AJ506178
    UniProtKB/Swiss-Prot
    Q9NRI5
    Conserved Domains (1) summary
    COG1196
    Location:458798
    Blast Score: 114
    Smc; Chromosome segregation ATPases [Cell division and chromosome partitioning]
  2. NM_001012958.1NP_001012976.1  disrupted in schizophrenia 1 protein isoform Es

    See proteins identical to NP_001012976.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (Es) lacks multiple 3' exons but has an alternate 3' exon, as compared to variant L. The resulting isoform (Es, also known as the "Extremely short" isoform) is much shorter and has a distinct C-terminus, as compared to isoform L.
    Source sequence(s)
    AJ506178
    Consensus CDS
    CCDS31056.1
    UniProtKB/Swiss-Prot
    Q9NRI5
    Related
    ENSP00000320784, OTTHUMP00000035959, ENST00000317586, OTTHUMT00000092355
  3. NM_001012959.1NP_001012977.1  disrupted in schizophrenia 1 protein isoform S

    See proteins identical to NP_001012977.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (S) lacks several 3' exons but has an alternate 3' exon, as compared to variant L. The resulting isoform (S, also known as the "Short" isoform) is shorter and has a distinct C-terminus, as compared to isoform L.
    Source sequence(s)
    AJ506177, AJ506178, BC038954
    Consensus CDS
    CCDS31055.1
    UniProtKB/Swiss-Prot
    Q9NRI5
    Related
    ENSP00000355596, OTTHUMP00000035960, ENST00000366636, OTTHUMT00000092356
    Conserved Domains (1) summary
    COG1196
    Location:337659
    Blast Score: 118
    Smc; Chromosome segregation ATPases [Cell division and chromosome partitioning]
  4. NM_001164537.1NP_001158009.1  disrupted in schizophrenia 1 protein isoform a

    See proteins identical to NP_001158009.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (a) has an additional exon in the 5' coding region, as compared to variant L. The reading frame is not changed, but the resulting isoform (a, also known as isoform 8) is longer than isoform L.
    Source sequence(s)
    AL450284, FJ804179
    UniProtKB/TrEMBL
    C4P096
    Conserved Domains (1) summary
    cl12013
    Location:621743
    Blast Score: 86
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  5. NM_001164538.1NP_001158010.1  disrupted in schizophrenia 1 protein isoform b

    See proteins identical to NP_001158010.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (b) lacks two 3' exons but has an alternate 3' segment, as compared to variant L. The resulting isoform (b, also known as isoform 10) is shorter and has a distinct C-terminus, as compared to isoform L.
    Source sequence(s)
    BC142622, FJ804181
    UniProtKB/TrEMBL
    C4P098
    Conserved Domains (1) summary
    cl12013
    Location:589711
    Blast Score: 88
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  6. NM_001164539.1NP_001158011.1  disrupted in schizophrenia 1 protein isoform c

    See proteins identical to NP_001158011.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (c) lacks several 3' exons but has an alternate 3' exon, as compared to variant L. The resulting isoform (c, also known as isoform 26) is shorter and has a distinct C-terminus, as compared to isoform L.
    Source sequence(s)
    FJ804196
    Consensus CDS
    CCDS53482.1
    UniProtKB/Swiss-Prot
    Q9NRI5
    Related
    ENSP00000355593, OTTHUMP00000272060, ENST00000366633, OTTHUMT00000467434
    Conserved Domains (1) summary
    pfam13900
    Location:677713
    Blast Score: 203
    GVQW; Putative binding domain
  7. NM_001164540.1NP_001158012.1  disrupted in schizophrenia 1 protein isoform d

    See proteins identical to NP_001158012.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (d) lacks two internal exons in the 5' region, as compared to variant L. The reading frame is not changed, and the resulting isoform (d, also kown as isoform 6) lacks an internal segment, as compared to isoform L.
    Source sequence(s)
    FJ804177
    UniProtKB/TrEMBL
    C4P094
    Related
    ENSP00000482174, ENST00000620189
    Conserved Domains (1) summary
    cl12013
    Location:467589
    Blast Score: 86
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  8. NM_001164541.1NP_001158013.1  disrupted in schizophrenia 1 protein isoform e

    See proteins identical to NP_001158013.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (e) lacks an internal exon and two end exons in the 3' region, but has an alternate 3' segment, as compared to variant L. The resulting isoform (e, also known as isoform 15) lacks an internal segment, and has a distinct and shorter C-terminus, as compared to isoform L.
    Source sequence(s)
    BC142622, FJ804186
    Consensus CDS
    CCDS53483.1
    UniProtKB/Swiss-Prot
    Q9NRI5
    Related
    ENSP00000443996, ENST00000535983
    Conserved Domains (1) summary
    COG1196
    Location:337659
    Blast Score: 119
    Smc; Chromosome segregation ATPases [Cell division and chromosome partitioning]
  9. NM_001164542.1NP_001158014.1  disrupted in schizophrenia 1 protein isoform f

    See proteins identical to NP_001158014.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (f) lacks several 3' exons but has an alternate 3' segment, as compared to variant L. The resulting isoform (f, also known as isoform 16) is C-terminal truncated, as compared to isoform L.
    Source sequence(s)
    FJ804187
    UniProtKB/TrEMBL
    C4P0A4
    Conserved Domains (1) summary
    COG1196
    Location:337678
    Blast Score: 117
    Smc; Chromosome segregation ATPases [Cell division and chromosome partitioning]
  10. NM_001164544.1NP_001158016.1  disrupted in schizophrenia 1 protein isoform g

    See proteins identical to NP_001158016.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (g) lacks multiple 3' exons but has an alternate 3' segment, as compared to variant L. The resulting isoform (g, also known as isoform 29) is much shorter and has a distinct C-terminus, as compared to isoform L.
    Source sequence(s)
    FJ804199
    Consensus CDS
    CCDS59205.1
    UniProtKB/Swiss-Prot
    Q9NRI5
    Related
    ENSP00000473425, OTTHUMP00000272074, ENST00000602281, OTTHUMT00000467451
    Conserved Domains (1) summary
    COG1196
    Location:337659
    Blast Score: 118
    Smc; Chromosome segregation ATPases [Cell division and chromosome partitioning]
  11. NM_001164545.1NP_001158017.1  disrupted in schizophrenia 1 protein isoform h

    See proteins identical to NP_001158017.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (h) lacks an internal exon and multiple 3' exons but has an alternate 3' segment, as compared to variant L. The resulting isoform (h, also known as isoform 35) is much shorter and has a distict C-terminus, as compared to isoform L.
    Source sequence(s)
    FJ804205
    Consensus CDS
    CCDS53484.1
    UniProtKB/Swiss-Prot
    Q9NRI5
    Related
    ENSP00000440953, OTTHUMP00000272072, ENST00000539444, OTTHUMT00000467449
    Conserved Domains (1) summary
    COG1196
    Location:346571
    Blast Score: 101
    Smc; Chromosome segregation ATPases [Cell division and chromosome partitioning]
  12. NM_001164546.1NP_001158018.1  disrupted in schizophrenia 1 protein isoform i

    See proteins identical to NP_001158018.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (i) lacks three internal exons and three 3' exons but has an alternate 3' segment, as compared to variant L. Variants i and j encode the same isoform (i), which is much shorter and has a distinct C-terminus, as compared to isoform L.
    Source sequence(s)
    FJ804190
    UniProtKB/Swiss-Prot
    Q9NRI5
    Conserved Domains (1) summary
    pfam14988
    Location:341488
    Blast Score: 94
    DUF4515; Domain of unknown function (DUF4515)
  13. NM_001164547.1NP_001158019.1  disrupted in schizophrenia 1 protein isoform i

    See proteins identical to NP_001158019.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (j) lacks three internal exons and two 3' exons but has an alternate 3' segment, as compared to variant L. Variants i and j encode the same isoform (i), which is much shorter and has a distinct C-terminus, as compared to isoform L.
    Source sequence(s)
    BC142622, FJ804184
    UniProtKB/Swiss-Prot
    Q9NRI5
    Conserved Domains (1) summary
    pfam14988
    Location:341488
    Blast Score: 94
    DUF4515; Domain of unknown function (DUF4515)
  14. NM_001164548.1NP_001158020.1  disrupted in schizophrenia 1 protein isoform k

    See proteins identical to NP_001158020.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (k) lacks two internal exons and multiple 3' exons but has an alternate 3' segment, as compared to variant L. The resulting isoform (k, also known as isoform 32) is much shorter and has a distinct C-terminus, as compared to isoform L.
    Source sequence(s)
    FJ804202
    UniProtKB/TrEMBL
    C4P0A5
    Related
    ENSP00000295051, OTTHUMP00000272073, ENST00000295051, OTTHUMT00000467450
    Conserved Domains (1) summary
    pfam14988
    Location:341488
    Blast Score: 95
    DUF4515; Domain of unknown function (DUF4515)
  15. NM_001164549.1NP_001158021.1  disrupted in schizophrenia 1 protein isoform l

    See proteins identical to NP_001158021.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (l) lacks multiple 3' exons but has an alternate 3' segment, as compared to variant L. The resulting isoform (l, also known as isoform 37) is much shorter and has a distinct C-terminus, as compared to isoform L.
    Source sequence(s)
    FJ804207
    UniProtKB/TrEMBL
    C4P0C4
    Conserved Domains (1) summary
    pfam14988
    Location:341488
    Blast Score: 95
    DUF4515; Domain of unknown function (DUF4515)
  16. NM_001164550.1NP_001158022.1  disrupted in schizophrenia 1 protein isoform m

    See proteins identical to NP_001158022.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (m) lacks multiple 3' exons but has two alternate 3' exons, as compared to variant L. The resulting isoform (m, also known as isoform 45) is much shorter and has a distinct C-terminus, as compared to isoform L.
    Source sequence(s)
    FJ804215
    UniProtKB/TrEMBL
    C4P0D2
  17. NM_001164551.1NP_001158023.1  disrupted in schizophrenia 1 protein isoform n

    See proteins identical to NP_001158023.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (n) lacks multiple 3' exons but has an alternate 3' segment, as compared to variant L. The resulting isoform (n, also known as isoform 41) is much shorter and has a truncated C-terminus, as compared to isoform L.
    Source sequence(s)
    FJ804211
    UniProtKB/TrEMBL
    C4P0C8
    Conserved Domains (1) summary
    pfam15619
    Location:324386
    Blast Score: 87
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
  18. NM_001164552.1NP_001158024.1  disrupted in schizophrenia 1 protein isoform o

    See proteins identical to NP_001158024.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (o) lacks multiple 3' exons but has two alternate 3' exons, as compared to variant L. The resulting isoform (o, also known as isoform 44) is much shorter and has a distinct C-terminus, as compared to isoform L.
    Source sequence(s)
    FJ804214
    UniProtKB/TrEMBL
    C4P0D1
  19. NM_001164553.1NP_001158025.1  disrupted in schizophrenia 1 protein isoform p

    See proteins identical to NP_001158025.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (p) lacks multiple 3' exons but has an alternate 3' exon, as compared to variant L. The resulting isoform (p, also known as isoform 43) is much shorter and has a distinct C-terminus, as compared to isoform L.
    Source sequence(s)
    FJ804213
    UniProtKB/TrEMBL
    C4P0D0
  20. NM_001164554.1NP_001158026.1  disrupted in schizophrenia 1 protein isoform q

    See proteins identical to NP_001158026.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (q) lacks multiple 3' exons but has an alternate 3' segment, as compared to variant L. The resulting isoform (q, also known as isoform 46) is much shorter and has a distinct C-terminus, as compared to isoform L.
    Source sequence(s)
    FJ804216
    UniProtKB/TrEMBL
    C4P0D3
  21. NM_001164555.1NP_001158027.1  disrupted in schizophrenia 1 protein isoform r

    See proteins identical to NP_001158027.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (r) lacks an internal exon and multiple 3' exons but has an alternate 3' segment, as compared to variant L. The resulting isoform (r, also known as isoform 42) is much shorter and has a distinct C-terminus, as compared to isoform L.
    Source sequence(s)
    FJ804212
    Consensus CDS
    CCDS59206.1
    UniProtKB/Swiss-Prot
    Q9NRI5
  22. NM_001164556.1NP_001158028.1  disrupted in schizophrenia 1 protein isoform t

    See proteins identical to NP_001158028.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (t) lacks four internal exons and multiple 3' exons but has an alternate 3' segment, as compared to variant L. The resulting isoform (t, also known as isoform 34) is the shortest, and has a distinct C-terminus, as compared to isoform L.
    Source sequence(s)
    FJ804204
    Consensus CDS
    CCDS59207.1
    UniProtKB/Swiss-Prot
    Q9NRI5
    Related
    ENSP00000473386, OTTHUMP00000272068, ENST00000602873, OTTHUMT00000467445
  23. NM_018662.2NP_061132.2  disrupted in schizophrenia 1 protein isoform L

    See proteins identical to NP_061132.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (L) encodes isoform L, also known as the "Long" isoform.
    Source sequence(s)
    AB007926, AF222980, AI075754, AJ506178
    UniProtKB/Swiss-Prot
    Q9NRI5
    Related
    ENSP00000403888, OTTHUMP00000035955, ENST00000439617, OTTHUMT00000092351
    Conserved Domains (2) summary
    COG1196
    Location:337678
    Blast Score: 111
    Smc; Chromosome segregation ATPases [Cell division and chromosome partitioning]
    TIGR02169
    Location:527842
    Blast Score: 97
    SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000001.11 

    Range
    231626815..232041272
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000133.1 

    Range
    202246109..202664353
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 

    Range
    233036406..233450761
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001039383.1: Suppressed sequence

    Description
    NM_001039383.1: This RefSeq was permanently suppressed because the transcript is intronless, has sequence similarity repetitive sequence, and the protein is not supported by homology.