DISC1 - DISC1 scaffold protein Gene
Also Known as SCZD9; C1orf136
Species: Homo sapiens
About DISC1
This gene has 23 transcripts (splice variants), 194 orthologues and is associated with 2 phenotypes. Ubiquitous expression in placenta (RPKM 2.1), ovary (RPKM 1.4) and 24 other tissues.
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]
DISC1 Products (23)
| mRNA | Protein | Name |
|---|---|---|
| NM_001012957.2 | NP_001012975.1 | disrupted in schizophrenia 1 protein isoform Lv |
| NM_001012958.2 | NP_001012976.1 | disrupted in schizophrenia 1 protein isoform Es |
| NM_001012959.2 | NP_001012977.1 | disrupted in schizophrenia 1 protein isoform S |
| NM_001164537.2 | NP_001158009.1 | disrupted in schizophrenia 1 protein isoform a |
| NM_001164538.2 | NP_001158010.1 | disrupted in schizophrenia 1 protein isoform b |
| NM_001164539.2 | NP_001158011.1 | disrupted in schizophrenia 1 protein isoform c |
| NM_001164540.2 | NP_001158012.1 | disrupted in schizophrenia 1 protein isoform d |
| NM_001164541.2 | NP_001158013.1 | disrupted in schizophrenia 1 protein isoform e |
| NM_001164542.2 | NP_001158014.1 | disrupted in schizophrenia 1 protein isoform f |
| NM_001164544.2 | NP_001158016.1 | disrupted in schizophrenia 1 protein isoform g |
| NM_001164545.2 | NP_001158017.1 | disrupted in schizophrenia 1 protein isoform h |
| NM_001164546.2 | NP_001158018.1 | disrupted in schizophrenia 1 protein isoform i |
| NM_001164547.2 | NP_001158019.1 | disrupted in schizophrenia 1 protein isoform i |
| NM_001164548.2 | NP_001158020.1 | disrupted in schizophrenia 1 protein isoform k |
| NM_001164549.2 | NP_001158021.1 | disrupted in schizophrenia 1 protein isoform l |
| NM_001164550.2 | NP_001158022.1 | disrupted in schizophrenia 1 protein isoform m |
| NM_001164551.2 | NP_001158023.1 | disrupted in schizophrenia 1 protein isoform n |
| NM_001164552.2 | NP_001158024.1 | disrupted in schizophrenia 1 protein isoform o |
| NM_001164553.2 | NP_001158025.1 | disrupted in schizophrenia 1 protein isoform p |
| NM_001164554.2 | NP_001158026.1 | disrupted in schizophrenia 1 protein isoform q |
| NM_001164555.2 | NP_001158027.1 | disrupted in schizophrenia 1 protein isoform r |
| NM_001164556.2 | NP_001158028.1 | disrupted in schizophrenia 1 protein isoform t |
| NM_018662.3 | NP_061132.2 | disrupted in schizophrenia 1 protein isoform L |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables identical protein binding |
IPI
IPI: Inferred from physical interaction
|
30561706 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
12812986 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in microtubule cytoskeleton organization |
IMP
IMP: Inferred from mutant phenotype
|
18955030 | GOA |
| involved in neuron migration |
IMP
IMP: Inferred from mutant phenotype
|
19502360 | GOA |
| acts upstream of or within non-motile cilium assembly |
IMP
IMP: Inferred from mutant phenotype
|
20531939 | GOA |
| involved in positive regulation of Wnt signaling pathway |
IGI
IGI: Inferred from genetic interaction
|
19303846 | GOA |
| involved in positive regulation of neuroblast proliferation |
IGI
IGI: Inferred from genetic interaction
|
19303846 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| is active in GABA-ergic synapse |
IDA
IDA: Inferred from direct assay
|
16736468 | GOA |
| located in centrosome |
IDA
IDA: Inferred from direct assay
|
18762586 | GOA |
| located in ciliary base |
IDA
IDA: Inferred from direct assay
|
20531939 | GOA |
| is active in glutamatergic synapse |
IDA
IDA: Inferred from direct assay
|
16736468 | GOA |
| located in mitochondrion |
IDA
IDA: Inferred from direct assay
|
20880836 | GOA |
| is active in postsynaptic density |
IDA
IDA: Inferred from direct assay
|
16736468 | GOA |
| is active in presynapse |
IDA
IDA: Inferred from direct assay
|
16736468 | GOA |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
disrupted in schizophrenia 1 protein |
|
DISC1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
DISC1 | Q9NRI5 | AKAP9 | Homo sapiens | Q99996 | 31413325 | |
|
Intra
|
DISC1 | Q9NRI5 | AKAP9 | Homo sapiens | Q99996 | 29961565 | |
|
Intra
|
DISC1 | Q9NRI5 | TNIK | Homo sapiens | Q9UKE5 | 29961565 | |
|
Intra
|
DISC1 | Q9NRI5 | TNIK | Homo sapiens | Q9UKE5 | 31413325 | |
|
Intra
|
DISC1 | Q9NRI5 | HERC2 | Homo sapiens | O95714 | 31413325 | |
|
Intra
|
DISC1 | Q9NRI5 | HERC2 | Homo sapiens | O95714 | 33961781 | |
|
Intra
|
DISC1 | Q9NRI5 | CLU | Homo sapiens | P10909 | 31413325 | |
|
Intra
|
DISC1 | Q9NRI5 | CEP170 | Homo sapiens | Q5SW79 | 31413325 | |
|
Intra
|
DISC1 | Q9NRI5 | CEP170 | Homo sapiens | Q5SW79 | 29961565 | |
|
Intra
|
DISC1 | Q9NRI5 | CEP170 | Homo sapiens | Q5SW79 | 33961781 | |
|
Intra
|
DISC1 | Q9NRI5 | KIF3A | Homo sapiens | Q9Y496 | 31413325 | |
|
Intra
|
DISC1 | Q9NRI5 | KIF3C | Homo sapiens | O14782 | 31413325 | |
|
Intra
|
DISC1 | Q9NRI5 | PDE4DIP | Homo sapiens | Q5VU43 | 31413325 | |
|
Intra
|
DISC1 | Q9NRI5 | PDE4DIP | Homo sapiens | Q5VU43 | 29961565 | |
|
Intra
|
DISC1 | Q9NRI5 | TFIP11 | Homo sapiens | Q9UBB9 | 31413325 | |
|
Intra
|
DISC1 | Q9NRI5 | TNKS | Homo sapiens | O95271 | 31413325 | |
|
Intra
|
DISC1 | Q9NRI5 | TNKS | Homo sapiens | O95271 | 33961781 | |
|
Intra
|
DISC1 | Q9NRI5 | ANGEL1 | Homo sapiens | Q9UNK9 | 33961781 | |
|
Intra
|
DISC1 | Q9NRI5 | ANGEL1 | Homo sapiens | Q9UNK9 | 31413325 | |
|
Intra
|
DISC1 | Q9NRI5 | ANKHD1 | Homo sapiens | Q8IWZ3-1 | 12812986 | |
|
Intra
|
DISC1 | Q9NRI5 | ANKHD1 | Homo sapiens | Q8IWZ3-1 | 12812986 | |
|
Intra
|
DISC1 | Q9NRI5 | MAP4K4 | Homo sapiens | O95819 | 29961565 | |
|
Intra
|
DISC1 | Q9NRI5 | RGPD5 | Homo sapiens | Q99666 | 33961781 | |
|
Intra
|
DISC1 | Q9NRI5 | RGPD5 | Homo sapiens | Q99666 | 31413325 | |
|
Cross
|
DISC1 | Q9NRI5 | Mad2l1 | Mus musculus | Q9Z1B5 | 29961565 | |
|
Cross
|
DISC1 | Q9NRI5 | Cep170 | Mus musculus | Q6A065 | 29961565 | |
|
Intra
|
DISC1 | Q9NRI5 | DRD2 | Homo sapiens | P14416 | 32493513 | |
|
Intra
|
DISC1 | Q9NRI5 | NUP160 | Homo sapiens | Q12769 | 31413325 | |
|
Intra
|
DISC1 | Q9NRI5 | NAV1 | Homo sapiens | Q8NEY1 | 31413325 | |
|
Intra
|
DISC1 | Q9NRI5 | NAV1 | Homo sapiens | Q8NEY1 | 33961781 | |
|
Intra
|
DISC1 | Q9NRI5 | SPTBN4 | Homo sapiens | Q9H254 | 12812986 | |
|
Intra
|
DISC1 | Q9NRI5 | ALMS1 | Homo sapiens | Q8TCU4 | 31413325 | |
|
Intra
|
DISC1 | Q9NRI5 | ALMS1 | Homo sapiens | Q8TCU4 | 33961781 | |
|
Cross
|
DISC1 | Q9NRI5 | Nde1 | Mus musculus | Q9CZA6 | 29961565 | |
|
Intra
|
DISC1 | Q9NRI5 | DST | Homo sapiens | Q03001 | 31413325 | |
|
Intra
|
DISC1 | Q9NRI5 | DST | Homo sapiens | Q03001 | 17043677 | |
|
Intra
|
DISC1 | Q9NRI5 | YWHAZ | Homo sapiens | P63104 | 31413325 | |
|
Intra
|
DISC1 | Q9NRI5 | SPTAN1 | Homo sapiens | Q13813 | 31413325 | |
|
Intra
|
DISC1 | Q9NRI5 | SPTAN1 | Homo sapiens | Q13813 | 29961565 | |
|
Intra
|
DISC1 | Q9NRI5 | GSN | Homo sapiens | P06396 | 29961565 | |
|
Intra
|
DISC1 | Q9NRI5 | SPTBN1 | Homo sapiens | Q01082 | 31413325 | |
|
Intra
|
DISC1 | Q9NRI5 | SPTBN1 | Homo sapiens | Q01082 | 29961565 | |
|
Intra
|
DISC1 | Q9NRI5 | MATR3 | Homo sapiens | P43243 | 31413325 | |
|
Intra
|
DISC1 | Q9NRI5 | MATR3 | Homo sapiens | P43243 | 29961565 | |
|
Intra
|
DISC1 | Q9NRI5 | DYNC1H1 | Homo sapiens | Q14204 | 31413325 | |
|
Intra
|
DISC1 | Q9NRI5 | YWHAE | Homo sapiens | P62258 | 31413325 | |
|
Intra
|
DISC1 | Q9NRI5 | DNAJC7 | Homo sapiens | Q99615 | 31413325 | |
|
Intra
|
DISC1 | Q9NRI5 | XRN2 | Homo sapiens | Q9H0D6 | 29961565 | |
|
Intra
|
DISC1 | Q9NRI5 | XRN2 | Homo sapiens | Q9H0D6 | 31413325 | |
|
Intra
|
DISC1 | Q9NRI5 | NUP210 | Homo sapiens | Q8TEM1 | 29961565 | |
|
Intra
|
DISC1 | Q9NRI5 | SPAG5 | Homo sapiens | Q96R06 | 33961781 | |
|
Intra
|
DISC1 | Q9NRI5 | SPAG5 | Homo sapiens | Q96R06 | 31413325 | |
|
Intra
|
DISC1 | Q9NRI5 | TNKS2 | Homo sapiens | Q9H2K2 | 33961781 | |
|
Intra
|
DISC1 | Q9NRI5 | TNKS2 | Homo sapiens | Q9H2K2 | 31413325 | |
|
Intra
|
DISC1 | Q9NRI5 | IMMT | Homo sapiens | Q16891 | 31413325 | |
|
Intra
|
DISC1 | Q9NRI5 | ATF4 | Homo sapiens | P18848 | 12812986 | |
|
Intra
|
DISC1 | Q9NRI5 | ATF4 | Homo sapiens | P18848 | 31413325 | |
|
Intra
|
DISC1 | Q9NRI5 | ATF5 | Homo sapiens | Q9Y2D1 | 12812986 | |
|
Intra
|
DISC1 | Q9NRI5 | ATF5 | Homo sapiens | Q9Y2D1 | 12812986 | |
|
Intra
|
DISC1 | Q9NRI5 | ATF5 | Homo sapiens | Q9Y2D1 | 12812986 | |
|
Intra
|
DISC1 | Q9NRI5 | MACF1 | Homo sapiens | Q9UPN3 | 31413325 | |
|
Intra
|
DISC1 | Q9NRI5 | NDEL1 | Homo sapiens | Q9GZM8 | 12812986 | |
|
Intra
|
DISC1 | Q9NRI5 | TRAF3IP1 | Homo sapiens | Q8TDR0 | 12812986 | |
|
Intra
|
DISC1 | Q9NRI5 | TRAF3IP1 | Homo sapiens | Q8TDR0 | 12812986 | |
|
Intra
|
DISC1 | Q9NRI5 | NDEL1 | Homo sapiens | Q9GZM8 | 29961565 | |
|
Intra
|
DISC1 | Q9NRI5 | TRAF3IP1 | Homo sapiens | Q8TDR0 | 31413325 | |
|
Intra
|
DISC1 | Q9NRI5 | NDEL1 | Homo sapiens | Q9GZM8 | 12812986 | |
|
Intra
|
DISC1 | Q9NRI5 | NDEL1 | Homo sapiens | Q9GZM8 | 33961781 | |
|
Intra
|
DISC1 | Q9NRI5 | NDEL1 | Homo sapiens | Q9GZM8 | 31413325 | |
|
Intra
|
DISC1 | Q9NRI5 | NDEL1 | Homo sapiens | Q9GZM8 | 12812986 | |
|
Intra
|
DISC1 | Q9NRI5 | TRAF3IP1 | Homo sapiens | Q8TDR0 | 12812986 | |
|
Intra
|
DISC1 | Q9NRI5 | PCNT | Homo sapiens | O95613 | 15094396 | |
|
Intra
|
DISC1 | Q9NRI5 | PCNT | Homo sapiens | O95613 | 12812986 | |
|
Intra
|
DISC1 | Q9NRI5 | PCNT | Homo sapiens | O95613 | 15094396 | |
|
Intra
|
DISC1 | Q9NRI5 | ITSN1 | Homo sapiens | Q15811 | 31413325 | |
|
Intra
|
DISC1 | Q9NRI5 | RANBP9 | Homo sapiens | Q96S59 | 12812986 | |
|
Intra
|
DISC1 | Q9NRI5 | RANBP9 | Homo sapiens | Q96S59 | 31413325 | |
|
Intra
|
DISC1 | Q9NRI5 | RANBP9 | Homo sapiens | Q96S59 | 12812986 | |
|
Cross
|
DISC1 | Q9NRI5 | Ndel1 | Mus musculus | Q9ERR1 | 29961565 | |
|
Intra
|
DISC1 | Q9NRI5 | EIF3H | Homo sapiens | O15372 | 12812986 | |
|
Intra
|
DISC1 | Q9NRI5 | EIF3H | Homo sapiens | O15372 | 31413325 | |
|
Intra
|
DISC1 | Q9NRI5 | EIF3H | Homo sapiens | O15372 | 12812986 | |
|
Intra
|
DISC1 | Q9NRI5 | GRIPAP1 | Homo sapiens | Q4V328 | 33961781 | |
|
Intra
|
DISC1 | Q9NRI5 | GRIPAP1 | Homo sapiens | Q4V328 | 29961565 | |
|
Intra
|
DISC1 | Q9NRI5 | GRIPAP1 | Homo sapiens | Q4V328 | 31413325 | |
|
Intra
|
DISC1 | Q9NRI5 | TRIO | Homo sapiens | O75962 | 31413325 | |
|
Intra
|
DISC1 | Q9NRI5 | TRIM27 | Homo sapiens | P14373 | 33961781 | |
|
Intra
|
DISC1 | Q9NRI5 | TRIM27 | Homo sapiens | P14373 | 31413325 | |
|
Intra
|
DISC1 | Q9NRI5 | PAFAH1B1 | Homo sapiens | P43034 | 31413325 | |
|
Intra
|
DISC1 | Q9NRI5 | PAFAH1B1 | Homo sapiens | P43034 | 29961565 | |
|
Intra
|
DISC1 | Q9NRI5 | TRIM37 | Homo sapiens | O94972 | 33961781 | |
|
Intra
|
DISC1 | Q9NRI5 | TRIM37 | Homo sapiens | O94972 | 31413325 | |
|
Intra
|
DISC1 | Q9NRI5 | CEP63 | Homo sapiens | Q96MT8 | 12812986 | |
|
Intra
|
DISC1 | Q9NRI5 | CEP63 | Homo sapiens | Q96MT8 | 31413325 | |
|
Intra
|
DISC1 | Q9NRI5 | RNF40 | Homo sapiens | O75150 | 31413325 | |
|
Intra
|
DISC1 | Q9NRI5 | RNF40 | Homo sapiens | O75150 | 33961781 | |
|
Cross
|
DISC1 | Q9NRI5 | Gripap1 | Mus musculus | Q8VD04 | 29961565 | |
|
Intra
|
DISC1 | Q9NRI5 | ACTN2 | Homo sapiens | P35609 | 12812986 | |
|
Intra
|
DISC1 | Q9NRI5 | ACTN2 | Homo sapiens | P35609 | 31413325 | |
|
Intra
|
DISC1 | Q9NRI5 | GATAD2B | Homo sapiens | Q8WXI9 | 29961565 | |
|
Intra
|
DISC1 | Q9NRI5 | GATAD2B | Homo sapiens | Q8WXI9 | 31413325 | |
|
Intra
|
DISC1 | Q9NRI5 | ATF7IP | Homo sapiens | Q6VMQ6 | 12812986 | |
|
Intra
|
DISC1 | Q9NRI5 | CCDC141 | Homo sapiens | Q6ZP82 | 12812986 | |
|
Intra
|
DISC1 | Q9NRI5 | SYNE1 | Homo sapiens | Q8NF91 | 12812986 | |
|
Intra
|
DISC1 | Q9NRI5 | SYNE1 | Homo sapiens | Q8NF91 | 31413325 | |
|
Intra
|
DISC1 | Q9NRI5 | MAP1A | Homo sapiens | P78559 | 12812986 | |
|
Intra
|
DISC1 | Q9NRI5 | MAP1A | Homo sapiens | P78559 | 12812986 | |
|
Intra
|
DISC1 | Q9NRI5 | NDE1 | Homo sapiens | Q9NXR1 | 33961781 | |
|
Intra
|
DISC1 | Q9NRI5 | NDE1 | Homo sapiens | Q9NXR1 | 31413325 | |
|
Intra
|
DISC1 | Q9NRI5 | NDE1 | Homo sapiens | Q9NXR1 | 29961565 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Schizophrenia 9 |
|
|
| Schizophrenia |
|
|
| Schizophrenia 1 |
|
|
| Schizoaffective Disorder |
|
|
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
|
| Psychotic Disorder |
|
|
| Bipolar Disorder |
|
|
| Lissencephaly 1 |
|
|
| Cyclothymic Disorder |
|
|
| Major Depressive Disorder |
|
|
| Asperger Syndrome |
|
|
| Autism |
|
|
| Mood Disorder |
|
|
| Tardive Dyskinesia |
|
|
| Schizophrenia 5 |
|
|
| Subacute Delirium |
|
|
| Paranoid Schizophrenia |
|
|
| Schizophreniform Disorder |
|
|
| Schizophrenia 2 |
|
|
| Schizotypal Personality Disorder |
|
|
| Schizophrenia 18 |
|
|
| Paranoid Personality Disorder |
|
|
| Schizoid Personality Disorder |
|
|
| Bardet-Biedl Syndrome 4 |
|
|
| Miller-Dieker Lissencephaly Syndrome |
|
|
| Mental Depression |
|
|
| Cannabis Abuse |
|
|
| Anxiety |
|
|
| Spinocerebellar Ataxia 44 |
|
|
| Pervasive Developmental Disorder |
|
|
| Chromosome 22q11.2 Deletion Syndrome, Distal |
|
|
| Delusional Disorder |
|
|
| Disease Of Mental Health |
|
|
| Bipolar I Disorder |
|
|
| Velocardiofacial Syndrome |
|
|
| Specific Developmental Disorder |
|
|
| Attention Deficit-Hyperactivity Disorder |
|
|
| Lissencephaly |
|
|
| Congenital Nervous System Abnormality |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | DISC1 | VGNC | VGNC:106712 |
| Felis catus | DISC1 | VGNC | VGNC:82471 |
| Canis familiaris | DISC1 | VGNC | VGNC:39965 |
| Macaca mulatta | DISC1 | VGNC | VGNC:71799 |
| Mus musculus | DISC1 | MGD | MGI:2447658 |
| Rattus norvegicus | DISC1 | RGD | RGD:631359 |
| Others | DISC1 | NCBI |