NACC1 - nucleus accumbens associated 1 Gene
Also Known as NAC1; BEND8; NAC-1; NECFM; BTBD30; BTBD14B
Species: Homo sapiens
About NACC1
This gene has 4 transcripts (splice variants), 260 orthologues, 28 paralogues and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 11.6), testis (RPKM 8.4) and 25 other tissues.
Summary
This gene encodes a member of the BTB/POZ protein family. BTB/POZ proteins are involved in several cellular processes including proliferation, Apoptosis and transcription regulation. The encoded protein is a transcriptional repressor that plays a role in stem cell self-renewal and pluripotency maintenance. The encoded protein also suppresses transcription of the candidate tumor suppressor Gadd45GIP1, and expression of this gene may play a role in the progression of multiple types of Cancer. A pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, Feb 2012]
NACC1 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_052876.4 | NP_443108.1 | nucleus accumbens-associated protein 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
28514442 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in negative regulation of DNA-templated transcription |
IMP
IMP: Inferred from mutant phenotype
|
17804717 | GOA |
| involved in positive regulation of cell population proliferation |
IMP
IMP: Inferred from mutant phenotype
|
17804717 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
17391728 | GOA |
NACC1 Protein Structure
BTB: BTB/POZ domain (20 - 121)
BEN: BEN domain (397 - 469)
- 0
- 100
- 200
- 300
- 400
- 500
- 527 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
nucleus accumbens-associated protein 1 |
|
NACC1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
NACC1 | Q96RE7 | PRPF18 | Homo sapiens | Q99633 | 32296183 | |
|
Intra
|
NACC1 | Q96RE7 | C8orf33 | Homo sapiens | Q9H7E9 | 32296183 |
NACC1 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P85291 | NAC-1 Antibody (YA4983) | IHC-P, ELISA | Human |
| HY-P85291A | NAC-1 Antibody (YA4983)(PBS only) | IHC-P, ELISA | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
|
| Sotos Syndrome 2 |
|
|
| Ovarian Cancer |
|
|
| Marshall-Smith Syndrome |
|
|
| Epilepsy |
|
|
| Joubert Syndrome 1 |
|
|
| Microcephaly |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Felis catus | NACC1 | VGNC | VGNC:63708 |
| Macaca mulatta | NACC1 | VGNC | VGNC:74996 |
| Mus musculus | NACC1 | MGD | MGI:1914080 |
| Rattus norvegicus | NACC1 | RGD | RGD:621003 |
| Canis familiaris | NACC1 | VGNC | VGNC:43603 |
| Bos taurus | NACC1 | VGNC | VGNC:31861 |
| Others | NACC1 | NCBI |