NACC1 - nucleus accumbens associated 1 Gene

中文名称：伏隔核相关 1

种属: Homo sapiens

同用名: NAC1; BEND8; NAC-1; NECFM; BTBD30; BTBD14B

基因 ID: 112939 | 基因类型: protein coding

关于 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.

功能概要

该基因编码 BTB/POZ 蛋白家族的一个成员。 BTB/POZ 蛋白参与多种细胞过程，包括增殖、细胞凋亡和转录调节。编码的蛋白质是一种转录抑制因子，在干细胞自我更新和多能性维持中发挥作用。编码的蛋白质还抑制候选肿瘤抑制基因 Gadd45GIP1 的转录，该基因的表达可能在多种癌症的进展中发挥作用。该基因的假基因位于 9 号染色体的短臂上。[RefSeq 提供，2012 年 2 月]

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 基因产物(1)

mRNA	Protein	Name
NM_052876.4	NP_443108.1	nucleus accumbens-associated protein 1

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	28514442	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in negative regulation of DNA-templated transcription	IMP IMP: 通过突变表型推断	17804717	GOA
involved in positive regulation of cell population proliferation	IMP IMP: 通过突变表型推断	17804717	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in nucleus	IDA IDA: 通过直接分析推断	17391728	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

NACC1 蛋白结构

BTB

BEN

0
100
200
300
400
527 a.a.

蛋白主名

其他名称

nucleus accumbens-associated protein 1

BEN domain containing 8

NACC1 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
Intra	NACC1	Q96RE7	PRPF18	Homo sapiens	Q99633	Validated Y2H	32296183
Intra	NACC1	Q96RE7	C8orf33	Homo sapiens	Q9H7E9	Validated Y2H	32296183

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS09002	NACC1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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

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