DISC1 DISC1 scaffold protein [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Disrupted-in-schizophrenia 1 protein aggregates in cerebrospinal fluid are elevated in patients with first-episode psychosis.
Title: Disrupted-in-schizophrenia 1 protein aggregates in cerebrospinal fluid are elevated in patients with first-episode psychosis.
Effects of representative point mutations on dynamic behavior of the DISC1-Ndel1 complex: a molecular dynamics study.
Title: Effects of representative point mutations on dynamic behavior of the DISC1-Ndel1 complex: a molecular dynamics study.
The variants in PTPRB, TRAF3IP3, and DISC1 genes were associated with Graves' disease in the Chinese population.
Title: The variants in PTPRB, TRAF3IP3, and DISC1 genes were associated with Graves' disease in the Chinese population.
Disrupted-in-schizophrenia 1 Protein Misassembly Impairs Cognitive Flexibility and Social Behaviors in a Transgenic Rat Model.
Title: Disrupted-in-schizophrenia 1 Protein Misassembly Impairs Cognitive Flexibility and Social Behaviors in a Transgenic Rat Model.
Impact of COMT, PRODH and DISC1 Genetic Variants on Cognitive Performance of Patients with Schizophrenia.
Title: Impact of COMT, PRODH and DISC1 Genetic Variants on Cognitive Performance of Patients with Schizophrenia.
Regulation of sensorimotor gating via Disc1/Huntingtin-mediated Bdnf transport in the cortico-striatal circuit.
Title: Regulation of sensorimotor gating via Disc1/Huntingtin-mediated Bdnf transport in the cortico-striatal circuit.
Combining fMRI and DISC1 gene haplotypes to understand working memory-related brain activity in schizophrenia.
Title: Combining fMRI and DISC1 gene haplotypes to understand working memory-related brain activity in schizophrenia.
The D2R-DISC1 protein complex and associated proteins are altered in schizophrenia and normalized with antipsychotic treatment.
Title: The D2R-DISC1 protein complex and associated proteins are altered in schizophrenia and normalized with antipsychotic treatment.
Effects of DISC1 on Alzheimer's disease cell models assessed by iTRAQ proteomics analysis.
Title: Effects of DISC1 on Alzheimer's disease cell models assessed by iTRAQ proteomics analysis.
The DISC1-Girdin complex - a missing link in signaling to the T cell cytoskeleton.
Title: The DISC1-Girdin complex - a missing link in signaling to the T cell cytoskeleton.

Submit: New GeneRIF Correction See all GeneRIFs (243)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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 EBI GWAS CatalogPubMed
Genome-wide association of lipid-lowering response to statins in combined study populations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study implicates a chromosome 12 risk locus for late-onset Alzheimer disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Impact of DISC1 variation on neuroanatomical and neurocognitive phenotypes. EBI GWAS Catalog EBI GWAS CatalogPubMed
Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-144606 (e-PCR)
- UniSTS:172310

SHGC-154930 (e-PCR)
- UniSTS:182040

D1S2191 (e-PCR)
- UniSTS:2330

D1S2517 (e-PCR)
- UniSTS:154138

RH93065 (e-PCR)
- UniSTS:92707

SGC32126 (e-PCR)
- UniSTS:35115

D8S2279 (e-PCR)
- UniSTS:473907

D1S2709 (e-PCR), detects polymorphism
- UniSTS:65338

SHGC-76522 (e-PCR)
- UniSTS:68412

G65049 (e-PCR)
- UniSTS:181821

D3S587 (e-PCR)
- UniSTS:148553

RH122687 (e-PCR)
- UniSTS:133965

D1S1624 (e-PCR)
- UniSTS:48471

D1S1621 (e-PCR)
- UniSTS:62819

SHGC-110351 (e-PCR)
- UniSTS:167796

RH121953 (e-PCR)
- UniSTS:94861

AL034292 (e-PCR)
- UniSTS:94115

AL009787 (e-PCR)
- UniSTS:30884

AL009602 (e-PCR)
- UniSTS:39593

AL034131 (e-PCR)
- UniSTS:93896

G60191 (e-PCR)
- UniSTS:137450

SHGC-76529 (e-PCR)
- UniSTS:18171

D1S3462 (e-PCR), detects polymorphism
- UniSTS:81919

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

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Preferred Names: disrupted in schizophrenia 1 protein

NCBI Reference Sequences (RefSeq)

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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

NG_011681.2 RefSeqGene

Range

4976..419458

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001012957.2 → NP_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:458 → 798

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
NM_001012958.2 → NP_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
NM_001012959.2 → NP_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:337 → 659

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
NM_001164537.2 → NP_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:621 → 743

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
NM_001164538.2 → NP_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:589 → 711

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
NM_001164539.2 → NP_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:677 → 713

GVQW; Putative domain of unknown function
NM_001164540.2 → NP_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:467 → 589

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
NM_001164541.2 → NP_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:337 → 659

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
NM_001164542.2 → NP_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:337 → 678

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
NM_001164544.2 → NP_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:337 → 659

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
NM_001164545.2 → NP_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:346 → 571

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
NM_001164546.2 → NP_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:341 → 488

DUF4515; Domain of unknown function (DUF4515)
NM_001164547.2 → NP_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:341 → 488

DUF4515; Domain of unknown function (DUF4515)
NM_001164548.2 → NP_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:341 → 488

DUF4515; Domain of unknown function (DUF4515)
NM_001164549.2 → NP_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:341 → 488

DUF4515; Domain of unknown function (DUF4515)
NM_001164550.2 → NP_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
NM_001164551.2 → NP_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
NM_001164552.2 → NP_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
NM_001164553.2 → NP_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
NM_001164554.2 → NP_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
NM_001164555.2 → NP_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
NM_001164556.2 → NP_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
NM_018662.3 → NP_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:337 → 678

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

TIGR02169
Location:527 → 842

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

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

231626790..232041272

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

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

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.