NACC1 - nucleus accumbens associated 1 Gene

Also Known as NAC1; BEND8; NAC-1; NECFM; BTBD30; BTBD14B

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 112939

About NACC1

Cytogenetic location: 19p13.13 Genomic coordinates (GRCh38): 19:13,116,852-13,141,147 (from NCBI)

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
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NACC1 Protein Structure

BTB

BTB: BTB/POZ domain (20 - 121)

BEN

BEN: BEN domain (397 - 469)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 527 a.a.
Protein Preferred Names Protein Names

nucleus accumbens-associated protein 1

  • BEN domain containing 8

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
Cross: Cross-species interaction Intra: Intraspecies interaction

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
  • NECFM

  • Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract

Sotos Syndrome 2
  • Sotos2

  • Sotos Syndrome, Type 2

Ovarian Cancer
  • Ovarian Carcinoma

  • Ovarian Neoplasm

  • Malignant Tumour Of Ovary

  • Cancer Of The Ovary

  • Epithelial Ovarian Cancer

  • Neoplasm Of Ovary

  • Ovarian Neoplasms

  • Ovarian Cancers

  • Malignant Neoplasm Of Ovary

  • Primary Malignant Neoplasm Of Ovary

  • Ovarian Cancer, Somatic

  • Malignant Ovarian Tumor

  • Ovary Neoplasm

  • Primary Ovarian Cancer

  • Tumor Of The Ovary

  • Malignant Neoplasm Of The Ovary

  • Malignant Tumor Of The Ovary

  • Ovarian Malignant Tumor

  • OC

  • Ovarian Carcinomas

  • Cancer, Ovarian

  • Cancer Of Ovary

  • Ovary Cancer

  • Ca Ovary

Marshall-Smith Syndrome
  • MRSHSS

  • Accelerated Skeletal Maturation-Facial Dysmorphism-Failure To Thrive Syndrome

  • Mss

Epilepsy
  • Epilepsy Syndrome

  • Epileptic Syndrome

  • Epilepsies

  • Symptomatic Epilepsies

  • Post Traumatic Epilepsy

  • Traumatic Epilepsy

  • Traumatic Epileptic

  • Epilepsy Due To Hippocampal Sclerosis

  • Epilepsy With Ammon'S Horn Sclerosis

  • Epilepsy Due To Cortical Dysplasia

  • Epilepsy Due To Neuronal Migration Disorders

Joubert Syndrome 1
  • Joubert Syndrome

  • Jbts

  • Cerebellooculorenal Syndrome 1

  • JBTS1

  • Joubert-Boltshauser Syndrome

  • Cerebelloparenchymal Disorder Iv

  • Cpd4

  • Cors1

  • Joubert Syndrome And Related Disorders

  • Jsrd

  • Familial Aplasia Of The Vermis

  • Joubert Syndrome Related Disorders

  • Js

  • Cerebellar Vermis Agenesis

  • Cerebelloparenchymal Disorder 4

  • Agenesis Of Cerebellar Vermis

  • Cerebello-Oculo-Renal Syndrome

  • Cors

  • Joubert-Bolthauser Syndrome

  • Cpd Iv

  • Classic Joubert Syndrome

  • Joubert Syndrome Type A

  • Pure Joubert Syndrome

  • Cerebello-Oculo-Renal Syndrome 1

  • Joubert Syndrome-1

  • Joubert Syndrome, Type 1

  • Joubert'S Syndrome

Microcephaly
  • Microencephaly

  • Microcephalus

  • Microcephalic

  • Nanocephaly

  • Congenital Microcephaly

  • Brain Hypoplasia

  • Brain Nondevelopment

  • Cephalic Hypoplasia

  • Undeveloped Cerebrum

  • Undeveloped Brain

  • Micrencephalon

  • Micrencephaly

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

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