2. Gene
  3. MCM3AP - minichromosome maintenance complex component 3 associated protein Gene

MCM3AP - minichromosome maintenance complex component 3 associated protein Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：微染色体维护复合物组分 3 相关蛋白

种属: Homo sapiens

同用名: GANP; SAC3; MAP80; PNRIID

基因 ID: 8888 | 基因类型: protein coding

关于 MCM3AP

Cytogenetic location: 21q22.3 Genomic coordinates (GRCh38): 21:46,235,133-46,286,265 (from NCBI)

This gene has 10 transcripts (splice variants), 198 orthologues, 2 paralogues and is associated with 1 phenotype. Ubiquitous expression in lymph node (RPKM 12.6), spleen (RPKM 12.4) and 25 other tissues.

功能概要

微型染色体维持蛋白 3 (MCM3) 是启动 DNA 复制所必需的 MCM 蛋白之一。该基因编码的蛋白质是 MCM3 结合蛋白。据报道，它具有磷酸化依赖性 DNA 引物酶活性，在抗原免疫诱导的生发中心上调。该蛋白质被证明是一种乙酰转移酶，可使 MCM3 乙酰化并在 DNA 复制中发挥作用。 MCM3 核定位信号的诱变影响该蛋白与 MCM3 的结合，表明该蛋白也可能促进 MCM3 核定位。该基因在大脑或神经元组织中表达。已在轻度智力障碍患者中鉴定出编码 915 位氨基酸 Lys 而非保守 Glu 的等位基因变体。[RefSeq 提供，2014 年 1 月]

The minichromosome maintenance protein 3 (MCM3) is one of the MCM proteins essential for the initiation of DNA replication. The protein encoded by this gene is a MCM3 binding protein. It was reported to have phosphorylation-dependent DNA-primase activity, which was up-regulated in antigen immunization induced germinal center. This protein was demonstrated to be an acetyltransferase that acetylates MCM3 and plays a role in DNA replication. The mutagenesis of a nuclear localization signal of MCM3 affects the binding of this protein with MCM3, suggesting that this protein may also facilitate MCM3 nuclear localization. This gene is expressed in the brain or in neuronal tissue. An allelic variant encoding amino acid Lys at 915, instead of conserved Glu, has been identified in patients with mild intellectual disability. [provided by RefSeq, Jan 2014]

MCM3AP 基因产物(1)

mRNA Protein Name
NM_003906.5 NP_003897.2 germinal-center associated nuclear protein
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 chromatin binding IDA
IDA: 通过直接分析推断
23652018 GOA
enables histone H3 acetyltransferase activity IDA
IDA: 通过直接分析推断
23652018 GOA
enables histone acetyltransferase activity IDA
IDA: 通过直接分析推断
23652018 GOA
enables histone binding IDA
IDA: 通过直接分析推断
23652018 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
23591820 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in nucleosome organization IDA
IDA: 通过直接分析推断
23652018 GOA
involved in poly(A)+ mRNA export from nucleus IMP
IMP: 通过突变表型推断
23591820 GOA
involved in somatic hypermutation of immunoglobulin genes IDA
IDA: 通过直接分析推断
23652018 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of nuclear pore nuclear basket IDA
IDA: 通过直接分析推断
23591820 GOA
part of transcription export complex 2 IDA
IDA: 通过直接分析推断
23591820 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

MCM3AP 蛋白结构

SAC3_GANP

SAC3_GANP: SAC3/GANP family (684 - 908)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 1980 a.a.
蛋白主名 其他名称

germinal-center associated nuclear protein

80 kDa MCM3-associated protein

关联疾病

疾病名称 别名
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development

PNRIID
Charcot-Marie-Tooth Disease

Cmt

Hmsn

Hereditary Motor And Sensory Neuropathy

Pma

Cmt - Charcot-Marie-Tooth Disease

Charcot Marie Tooth Disease

Charcot-Marie-Tooth Hereditary Neuropathy

Charcot-Marie-Tooth Syndrome

Peroneal Muscular Atrophy

Hereditary Motor And Sensory Neuropathies
Charcot-Marie-Tooth Disease, Recessive Intermediate C

Charcot-Marie-Tooth Disease Recessive Intermediate C

CMTRIC

Ri-Cmtc

Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type C

Ri-Cmt Type C

Charcot-Marie-Tooth Neuropathy, Recessive Intermediate C

Charcot-Marie-Tooth Disease, Recessive, Intermediate Type, C

Charcot-Marie-Tooth Neuropathy Recessive Intermediate C
Charcot-Marie-Tooth Disease, Dominant Intermediate E

CMTDIE

Charcot-Marie-Tooth Disease Dominant Intermediate E

Charcot-Marie-Tooth Neuropathy With Focal Segmental Glomerulonephritis

Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type E

Charcot-Marie-Tooth Disease-Nephropathy Syndrome

Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, E

Charcot-Marie-Tooth Disease, Dominant Intermediate, Type E
Meier-Gorlin Syndrome 8

MGORS8
Deafness, Autosomal Dominant 70

DFNA70

Autosomal Dominant Nonsyndromic Deafness 70

Autosomal Dominant Deafness 70

Deafness, Autosomal Dominant, 70
Charcot-Marie-Tooth Disease, Axonal, Type 2t

CMT2T

Charcot-Marie-Tooth Disease Axonal Type 2t

Charcot-Marie-Tooth Neuropathy, Type 2t

Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2t

Ar-Cmt2t

Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2t

Mme-Related Autosomal Dominant Charcot Marie Tooth Disease Type 2

Charcot-Marie-Tooth Neuropathy Type 2t

Charcot-Marie-Tooth Disease Type 2t

Mme-Related Autosomal Dominant Cmt2

Mme-Related Autosomal Dominant Hereditary Motor And Sensory Neuropathy Type 2

Charcot-Marie-Tooth Disease 2t

Charcot-Marie-Tooth Neuropathy Axonal Type 2t
Charcot-Marie-Tooth Disease, Axonal, Type 2e

Charcot-Marie-Tooth Disease Type 2

CMT2E

CMT2S

CMT2Y

Charcot-Marie-Tooth Disease Type 2e

Charcot-Marie-Tooth Disease Type 2y

Charcot-Marie-Tooth Disease Axonal Type 2s

Charcot-Marie-Tooth Disease, Axonal, Type 2s

Charcot-Marie-Tooth Disease, Type 2e

Hereditary Motor And Sensory Neuropathy Type 2

Charcot-Marie-Tooth Neuropathy, Type 2s

Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s

Charcot-Marie-Tooth Disease, Axonal, Type 2y

Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y

Charcot-Marie-Tooth Neuropathy, Type 2y

Charcot-Marie-Tooth Disease, Type 2y

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e

Charcot-Marie-Tooth Neuropathy Type 2e

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation

Cmt2 Due To Vcp Mutation

Charcot-Marie-Tooth Disease Type 2s

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2

Autosomal Dominant Axonal Charcot-Marie-Tooth Disease

Cmt2

Charcot-Marie-Tooth Neuropathy, Type 2e

Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type

Hereditary Motor And Sensory Neuropathy Okinawa Type

Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y

Charcot-Marie-Tooth Neuropathy Type 2y

Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s

Charcot-Marie-Tooth Neuropathy Type 2s

Charcot-Marie-Tooth Type 2

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y

Charcot-Marie-Tooth Disease 2e

Charcot-Marie-Tooth Disease Axonal Type 2e

Charcot-Marie-Tooth Disease Neuronal Type 2e

Charcot-Marie-Tooth Disease 2s

Charcot-Marie-Tooth Neuropathy Axonal Type 2s

Charcot-Marie-Tooth Disease 2y

Charcot-Marie-Tooth Disease, Type 2

Hereditary Motor And Sensory-Neuropathy Type Ii
Charcot-Marie-Tooth Disease, Type 4b3

Charcot-Marie-Tooth Disease Type 4b3

CMT4B3

Charcot-Marie-Tooth Disease With Focally Folded Myelin

Charcot-Marie-Tooth Disease 4b3

Charcot-Marie-Tooth Neuropathy Type 4b3
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

Charcot-Marie-Tooth Disease Type 4

Charcot-Marie-Tooth Disease Type 4e

Hereditary Motor And Sensory Neuropathy

Cmt4e

CHN1

Hypomyelinating Neuropathy, Congenital, 1

Charcot-Marie-Tooth Neuropathy Type 4e

Neuropathy, Congenital Hypomyelinating, 1

Ar-Cmt1

Autosomal Recessive Demyelinating Charcot-Marie-Tooth

Cmt4

Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive

Hypomyelination, Severe Congenital

Charcot-Marie-Tooth Disease, Type 4e

Charcot-Marie-Tooth Neuropathy, Type 4e

Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy

Autosomal Recessive Congenital Hypomyelinating Neuropathy

Congenital Amyelinating Neuropathy

Congenital Hypomyelinating Neuropathy Autosomal Recessive

Neuropathy, Congenital Hypomyelinating Or Amyelinating

Severe Congenital Hypomyelination

Hereditary Sensory Motor Neuropathy

Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive

Neuropathy, Hypomyelinating, Congenital, Type 1

Neuropathy, Motor And Sensory, Hereditary

Congenital Hypomyelinating Neuropathy

Hereditary Motor And Sensory Neuropathies

Hereditary Sensorimotor Neuropathy

Hmsn - [Hereditary Motor And Sensory Neuropathy]

Hsmn - [Hereditary Sensory And Motor Neuropathy]

Hereditary Motor And Sensory Neuropathy, Types I-Iv
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS08236 MCM3AP Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus MCM3AP VGNC VGNC:31310
Felis catus MCM3AP VGNC VGNC:68214
Canis familiaris MCM3AP VGNC VGNC:43083
Mus musculus MCM3AP MGD MGI:1930089
Rattus norvegicus MCM3AP RGD RGD:1306834
Macaca mulatta MCM3AP VGNC VGNC:74682
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