U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

DISC1 DISC1 scaffold protein [ Homo sapiens (human) ]

Gene ID: 27185, updated on 27-Nov-2024

Summary

Official Symbol
DISC1provided by HGNC
Official Full Name
DISC1 scaffold proteinprovided by HGNC
Primary source
HGNC:HGNC:2888
See related
Ensembl:ENSG00000162946 MIM:605210; AllianceGenome:HGNC:2888
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]
Expression
Ubiquitous expression in placenta (RPKM 2.1), ovary (RPKM 1.4) and 24 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See DISC1 in Genome Data Viewer
Location:
1q42.2
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (231626790..232041272)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (231009996..231426811)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (231762536..232177018)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:231663972-231665171 Neighboring gene TSNAX-DISC1 readthrough (NMD candidate) Neighboring gene translin associated factor X Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2731 Neighboring gene long intergenic non-protein coding RNA 582 Neighboring gene MPRA-validated peak764 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1954 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1955 Neighboring gene MPRA-validated peak765 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:231787054-231787554 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:231787555-231788055 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:231830220-231830402 Neighboring gene RNA, U5A small nuclear 5, pseudogene Neighboring gene MPRA-validated peak767 silencer Neighboring gene uncharacterized LOC105373170 Neighboring gene NANOG hESC enhancer GRCh37_chr1:231967105-231967615 Neighboring gene disrupted in schizophrenia 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1956 Neighboring gene DISC1 intronic transcript 1 Neighboring gene uncharacterized LOC124904549 Neighboring gene NANOG hESC enhancer GRCh37_chr1:232173754-232174300 Neighboring gene uncharacterized LOC105373172 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:232179763-232180962 Neighboring gene uncharacterized LOC105373171 Neighboring gene MPRA-validated peak768 silencer

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
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)

ClinGen Genome Curation Page
Triplosensitivity

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

ClinGen Genome Curation Page

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Readthrough TSNAX-DISC1

Readthrough gene: TSNAX-DISC1, Included gene: TSNAX

Clone Names

  • FLJ13381, FLJ21640, FLJ25311, FLJ41105, KIAA0457

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables kinesin binding IEA
Inferred from Electronic Annotation
more info
 
enables molecular adaptor activity IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein-containing complex binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in TOR signaling IEA
Inferred from Electronic Annotation
more info
 
involved_in canonical Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in cell proliferation in forebrain IEA
Inferred from Electronic Annotation
more info
 
involved_in cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in detection of temperature stimulus involved in sensory perception of pain IEA
Inferred from Electronic Annotation
more info
 
involved_in microtubule cytoskeleton organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in mitochondrial calcium ion homeostasis IEA
Inferred from Electronic Annotation
more info
 
involved_in neuron cellular homeostasis IEA
Inferred from Electronic Annotation
more info
 
involved_in neuron migration IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in neuron migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within non-motile cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of Wnt signaling pathway IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in positive regulation of axon extension IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of cell-matrix adhesion IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of neuroblast proliferation IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in positive regulation of neuron projection development IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of ubiquitin-dependent protein catabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in protein localization to centrosome IEA
Inferred from Electronic Annotation
more info
 
involved_in pyramidal neuron migration to cerebral cortex IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of dendritic spine development IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of postsynapse organization IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of synapse maturation IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of synaptic transmission, glutamatergic IEA
Inferred from Electronic Annotation
more info
 
involved_in response to electrical stimulus IEA
Inferred from Electronic Annotation
more info
 
involved_in ubiquitin-dependent protein catabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in GABA-ergic synapse IDA
Inferred from Direct Assay
more info
PubMed 
located_in cell body IEA
Inferred from Electronic Annotation
more info
 
located_in central region of growth cone IEA
Inferred from Electronic Annotation
more info
 
located_in centrosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in ciliary basal body IEA
Inferred from Electronic Annotation
more info
 
located_in ciliary base IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
part_of dynein complex IEA
Inferred from Electronic Annotation
more info
 
is_active_in glutamatergic synapse IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in intermediate filament cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in intermediate filament cytoskeleton IDA
Inferred from Direct Assay
more info
 
part_of kinesin complex IEA
Inferred from Electronic Annotation
more info
 
is_active_in microtubule IBA
Inferred from Biological aspect of Ancestor
more info
 
is_active_in microtubule organizing center IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
located_in perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
is_active_in postsynaptic density IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in presynapse IDA
Inferred from Direct Assay
more info
PubMed 
located_in synaptic vesicle IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
disrupted in schizophrenia 1 protein

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_011681.2 RefSeqGene

    Range
    4976..419458
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001012957.2NP_001012975.1  disrupted in schizophrenia 1 protein isoform Lv

    See identical proteins and their annotated locations for 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, AL626763
    Consensus CDS
    CCDS86058.1
    UniProtKB/TrEMBL
    A7E2W8
    Related
    ENSP00000355597.6, ENST00000366637.8
    Conserved Domains (1) summary
    COG1196
    Location:458798
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
  2. NM_001012958.2NP_001012976.1  disrupted in schizophrenia 1 protein isoform Es

    See identical proteins and their annotated locations for 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, AL626763
    Consensus CDS
    CCDS31056.1
    UniProtKB/TrEMBL
    C4P0C7
    Related
    ENSP00000320784.4, ENST00000317586.8
  3. NM_001012959.2NP_001012977.1  disrupted in schizophrenia 1 protein isoform S

    See identical proteins and their annotated locations for 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, AL626763, BC038954
    Consensus CDS
    CCDS31055.1
    UniProtKB/TrEMBL
    C4P0B1
    Related
    ENSP00000355596.4, ENST00000366636.8
    Conserved Domains (1) summary
    COG1196
    Location:337659
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
  4. NM_001164537.2NP_001158009.1  disrupted in schizophrenia 1 protein isoform a

    See identical proteins and their annotated locations for 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, AL626763, FJ804179
    UniProtKB/TrEMBL
    A7E2W8, C4P096
    Conserved Domains (1) summary
    cl12013
    Location:621743
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  5. NM_001164538.2NP_001158010.1  disrupted in schizophrenia 1 protein isoform b

    See identical proteins and their annotated locations for 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)
    AL626763, BC142622, FJ804181
    UniProtKB/TrEMBL
    A7E2W8, C4P098
    Conserved Domains (1) summary
    cl12013
    Location:589711
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  6. NM_001164539.2NP_001158011.1  disrupted in schizophrenia 1 protein isoform c

    See identical proteins and their annotated locations for 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)
    AL626763, FJ804196
    Consensus CDS
    CCDS53482.1
    UniProtKB/Swiss-Prot
    Q9NRI5
    Related
    ENSP00000355593.3, ENST00000366633.7
    Conserved Domains (1) summary
    pfam13900
    Location:677713
    GVQW; Putative domain of unknown function
  7. NM_001164540.2NP_001158012.1  disrupted in schizophrenia 1 protein isoform d

    See identical proteins and their annotated locations for 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)
    AL626763, FJ804177
    UniProtKB/TrEMBL
    A7E2W8, C4P094
    Conserved Domains (1) summary
    cl12013
    Location:467589
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  8. NM_001164541.2NP_001158013.1  disrupted in schizophrenia 1 protein isoform e

    See identical proteins and their annotated locations for 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)
    AL626763, BC142622, FJ804186
    Consensus CDS
    CCDS53483.1
    UniProtKB/TrEMBL
    C4P0B1
    Related
    ENSP00000443996.1, ENST00000535983.5
    Conserved Domains (1) summary
    COG1196
    Location:337659
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
  9. NM_001164542.2NP_001158014.1  disrupted in schizophrenia 1 protein isoform f

    See identical proteins and their annotated locations for 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)
    AL626763, FJ804187
    UniProtKB/TrEMBL
    C4P0A4, C4P0B1
    Conserved Domains (1) summary
    COG1196
    Location:337678
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
  10. NM_001164544.2NP_001158016.1  disrupted in schizophrenia 1 protein isoform g

    See identical proteins and their annotated locations for 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)
    AL626763, FJ804199
    Consensus CDS
    CCDS59205.1
    UniProtKB/TrEMBL
    C4P0B1
    Related
    ENSP00000473425.1, ENST00000602281.5
    Conserved Domains (1) summary
    COG1196
    Location:337659
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
  11. NM_001164545.2NP_001158017.1  disrupted in schizophrenia 1 protein isoform h

    See identical proteins and their annotated locations for 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)
    AL626763, FJ804205
    Consensus CDS
    CCDS53484.1
    UniProtKB/TrEMBL
    C4P093
    Related
    ENSP00000440953.1, ENST00000539444.5
    Conserved Domains (1) summary
    COG1196
    Location:346571
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
  12. NM_001164546.2NP_001158018.1  disrupted in schizophrenia 1 protein isoform i

    See identical proteins and their annotated locations for 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)
    AL626763, FJ804190
    Consensus CDS
    CCDS53485.1
    UniProtKB/TrEMBL
    C4P093
    Related
    ENSP00000487190.1, ENST00000628350.2
    Conserved Domains (1) summary
    pfam14988
    Location:341488
    DUF4515; Domain of unknown function (DUF4515)
  13. NM_001164547.2NP_001158019.1  disrupted in schizophrenia 1 protein isoform i

    See identical proteins and their annotated locations for 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)
    AL626763, BC142622, FJ804184
    Consensus CDS
    CCDS53485.1
    UniProtKB/TrEMBL
    C4P093
    Conserved Domains (1) summary
    pfam14988
    Location:341488
    DUF4515; Domain of unknown function (DUF4515)
  14. NM_001164548.2NP_001158020.1  disrupted in schizophrenia 1 protein isoform k

    See identical proteins and their annotated locations for 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)
    AL626763, FJ804202
    UniProtKB/TrEMBL
    C4P093, C4P0A5
    Related
    ENSP00000295051.7, ENST00000295051.11
    Conserved Domains (1) summary
    pfam14988
    Location:341488
    DUF4515; Domain of unknown function (DUF4515)
  15. NM_001164549.2NP_001158021.1  disrupted in schizophrenia 1 protein isoform l

    See identical proteins and their annotated locations for 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)
    AL626763, FJ804207
    UniProtKB/TrEMBL
    C4P093, C4P0C4
    Conserved Domains (1) summary
    pfam14988
    Location:341488
    DUF4515; Domain of unknown function (DUF4515)
  16. NM_001164550.2NP_001158022.1  disrupted in schizophrenia 1 protein isoform m

    See identical proteins and their annotated locations for 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)
    AL626763, FJ804215
    UniProtKB/TrEMBL
    C4P0A9, C4P0D2
  17. NM_001164551.2NP_001158023.1  disrupted in schizophrenia 1 protein isoform n

    See identical proteins and their annotated locations for 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)
    AL626763, FJ804211
    UniProtKB/TrEMBL
    C4P0A0, C4P0C8
    Related
    ENSP00000481791.1, ENST00000622252.4
  18. NM_001164552.2NP_001158024.1  disrupted in schizophrenia 1 protein isoform o

    See identical proteins and their annotated locations for 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)
    AL626763, FJ804214
    UniProtKB/TrEMBL
    C4P092, C4P0D1, Q5T406
  19. NM_001164553.2NP_001158025.1  disrupted in schizophrenia 1 protein isoform p

    See identical proteins and their annotated locations for 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)
    AL626763, FJ804213
    UniProtKB/TrEMBL
    C4P0A9, C4P0D0
  20. NM_001164554.2NP_001158026.1  disrupted in schizophrenia 1 protein isoform q

    See identical proteins and their annotated locations for 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)
    AL359543, AL626763, FJ804216
    UniProtKB/TrEMBL
    C4P0A9, C4P0D3
    Related
    ENSP00000355592.2, ENST00000366632.6
  21. NM_001164555.2NP_001158027.1  disrupted in schizophrenia 1 protein isoform r

    See identical proteins and their annotated locations for 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)
    AL626763, FJ804212
    Consensus CDS
    CCDS59206.1
    UniProtKB/TrEMBL
    C4P0C7
    Related
    ENSP00000473417.1, ENST00000602700.5
  22. NM_001164556.2NP_001158028.1  disrupted in schizophrenia 1 protein isoform t

    See identical proteins and their annotated locations for 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)
    AL626763, FJ804204
    Consensus CDS
    CCDS59207.1
    UniProtKB/Swiss-Prot
    Q9NRI5
    Related
    ENSP00000473386.1, ENST00000602873.5
  23. NM_018662.3NP_061132.2  disrupted in schizophrenia 1 protein isoform L

    See identical proteins and their annotated locations for 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, AL626763
    Consensus CDS
    CCDS86059.1
    UniProtKB/Swiss-Prot
    A6NLH2, C4P091, C4P095, C4P0A1, C4P0A3, C4P0B3, C4P0B6, C4P0C1, C9J6D0, O75045, Q5VT44, Q5VT45, Q8IXJ0, Q8IXJ1, Q9BX19, Q9NRI3, Q9NRI4, Q9NRI5
    UniProtKB/TrEMBL
    A7E2W8
    Related
    ENSP00000403888.4, ENST00000439617.8
    Conserved Domains (2) summary
    COG1196
    Location:337678
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    TIGR02169
    Location:527842
    SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    231626790..232041272
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    231009996..231426811
    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.