1. Gene
  2. MAK - male germ cell associated kinase Gene

MAK - male germ cell associated kinase Gene

中文名称:雄性生殖细胞相关激酶

种属: Homo sapiens

同用名: RP62

基因 ID: 4117 | 基因类型: protein coding

关于 MAK

Cytogenetic location: 6p24.2 Genomic coordinates (GRCh38): 6:10,762,723-10,838,539 (from NCBI)

This gene has 7 transcripts (splice variants), 233 orthologues, 19 paralogues and is associated with 3 phenotypes. Biased expression in testis (RPKM 3.9), lung (RPKM 0.4) and 3 other tissues.

功能概要

该基因的产物是与参与细胞周期调节的激酶相关的丝氨酸/苏氨酸蛋白激酶。对小鼠和大鼠同系物的研究已将激酶定位于精子发生减数分裂期间的染色体,特别是同源染色体配对时存在的联会复合体。该基因的突变与导致色素性视网膜炎的睫状体缺陷有关 62。选择性剪接导致多种转录物变异。[RefSeq 提供,2016 年 1 月]

The product of this gene is a serine/threonine protein kinase related to kinases involved in cell cycle regulation. Studies of the mouse and rat homologs have localized the kinase to the chromosomes during meiosis in spermatogenesis, specifically to the synaptonemal complex that exists while homologous chromosomes are paired. Mutations in this gene have been associated with ciliary defects resulting in retinitis pigmentosa 62. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

MAK 基因产物(4)

mRNA Protein Name
NM_001242385.2 NP_001229314.1 serine/threonine-protein kinase MAK isoform 2
NM_001242957.3 NP_001229886.1 serine/threonine-protein kinase MAK isoform 3
NM_001377262.1 NP_001364191.1 serine/threonine-protein kinase MAK isoform 4
NM_005906.6 NP_005897.1 serine/threonine-protein kinase MAK isoform 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
16951154 GOA
enables transcription coactivator activity IDA
IDA: 通过直接分析推断
16951154 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in protein autophosphorylation IMP
IMP: 通过突变表型推断
21986944 GOA
involved in protein phosphorylation IDA
IDA: 通过直接分析推断
21986944 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in centrosome IDA
IDA: 通过直接分析推断
21986944 GOA
located in midbody IDA
IDA: 通过直接分析推断
21986944 GOA
located in mitotic spindle IDA
IDA: 通过直接分析推断
21986944 GOA
located in nucleus IDA
IDA: 通过直接分析推断
12084720 GOA
located in photoreceptor inner segment IDA
IDA: 通过直接分析推断
21825139 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

MAK 蛋白结构

Pkinase

Pkinase: Protein kinase domain (4 - 284)

  • 0
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  • 500
  • 623 a.a.
蛋白主名 其他名称

serine/threonine-protein kinase MAK

serine/threonine protein kinase MAK

MAK 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
种属内
MAK P20794 AR Homo sapiens P10275 16951154
种属内
MAK P20794 AR Homo sapiens P10275
IF
16951154
种属内
MAK P20794 AR Homo sapiens P10275 16951154
种属内
MAK P20794 FZR1 Homo sapiens Q9UM11 21986944
种属内
MAK P20794 FZR1 Homo sapiens Q9UM11 21986944
种属内
MAK P20794 FZR1 Homo sapiens Q9UM11 21986944
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
Retinitis Pigmentosa 62

RP62

Retinitis Pigmentosa, Type 62

Isolated Macular Dystrophy
Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy

CORD2

Cone-Rod Retinal Dystrophy

Rcrd2

Cone-Rod Retinal Dystrophy 2

Crd2

Cord

Crd

Retinal Cone-Rod Dystrophy

Cone-Rod Retinal Dystrophy-2

Retinal Cone-Rod Dystrophy 2

Tapetoretinal Degeneration

Cone-Rod Degeneration

Cone Rod Dystrophy

Dystrophy, Cone-Rod

Dystrophy, Cone-Rod, Type 2

Retinitis Pigmentosa

Retinitis Pigmentosa 2

Progressive Cone-Rod Dystrophy

Endocrine-Cerebroosteodysplasia

Endocrine-Cerebro-Osteodysplasia Syndrome

ECO

Eco Syndrome

Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal

Prostate Cancer

Prostate Carcinoma

Prostate Cancer, Familial

Prostate Neoplasm

Prostate Cancer, Somatic

Prostate Cancer, Susceptibility To

Prostatic Cancer

Prostatic Neoplasms

Hereditary Prostate Cancer

Prostatic Neoplasm

Cancer Of Prostate

Carcinoma Of Prostate

Familial Prostate Cancer

Familial Prostate Carcinoma

Malignant Tumor Of Prostate

Malignant Neoplasm Of Prostate

Prostate Cancer, Familial, Susceptibility To

Malignant Tumor Of The Prostate

Ngp - New Growth Of Prostate

Tumor Of The Prostate

Prostate Cancer, Hereditary

Cancer Of The Prostate

Malignant Neoplasm Of The Prostate

Prostatic Carcinoma

PC

Prca

Cancer, Prostate

Malignant Prostatic Tumour

Malignant Tumour Of Prostate

Primary Prostate Cancer

Primary Malignant Neoplasm Of Prostate

Prostate Gland Cancer

Cornea Cancer

Malignant Neoplasm Of Cornea

Neoplasm Of Cornea

Corneal Tumor

Malignant Corneal Tumor

Malignant Tumor Of Cornea

Primary Malignant Neoplasm Of Cornea

Gyrate Atrophy Of Choroid And Retina

Gyrate Atrophy

Ornithine Aminotransferase Deficiency

HOGA

Hyperornithinemia With Gyrate Atrophy Of Choroid And Retina

Oat Deficiency

Okt Deficiency

Hyperornithinemia

Ornithine Keto Acid Aminotransferase Deficiency

Ornithine-Delta-Aminotransferase Deficiency

Gyrate Atrophy Of The Choroid And Retina

GACR

Gyrate Atrophy Of Choroid And Retina With Or Without Ornithinemia

Gyrate Atrophy Of The Retina

Ornithinemia With Gyrate Atrophy

Ornithinemia

Fuchs Atrophia Gyrata Chorioideae Et Retinae

Hyperornithinemia-Gyrate Atrophy Of Choroid And Retina Syndrome

Gyrate Atrophy Of The Choroid And/Or Retina

Girate Atrophy Of The Retina

Ornithine Ketoacid Aminotransferase Deficiency

Atrophy, Gyrate, Of Choroid And Retina

Retinitis Pigmentosa 1

RP1

Retinitis Pigmentosa-1

Retinitis Pigmentosa, Type 1

Phimosis

Tight Foreskin

Tight Frenulum

Congenital Phimosis

Bardet-Biedl Syndrome

Bbs

Biedl-Bardet Syndrome

Leber Plus Disease

Leber Congenital Amaurosis

Lca

Leber'S Amaurosis

Leber'S Disease

Amaurosis Congenita Of Leber

Amaurosis Congenita Of Leber, Type 1

Lhon Plus Disease

Congenital Absence Of The Rods And Cones

Congenital Retinal Blindness

Crb

Congenital Amaurosis Of Retinal Origin

Leber'S Congenital Amaurosis

Leber Congenital Amaurosis 1

Leber'S Congenital Tapetoretinal Degeneration

Leber'S Congenital Tapetoretinal Dysplasia

Lca1

Leber Congenital Amaurosis Type 1

Retinal Blindness, Congenital

Amaurosis, Leber Congenital

Dysgenesis Neuroepithelialis Retinae

Hereditary Epithelial Dysplasia Of Retina

Hereditary Retinal Aplasia

Heredoretinopathia Congenitalis

Leber Abiotrophy

Leber Congenital Tapetoretinal Degeneration

Lebers Congenital Amaurosis

Optic Atrophy, Hereditary, Leber

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

直系同源

种属 基因名 来源 基因 ID
Felis catus MAK VGNC VGNC:68139
Macaca mulatta MAK VGNC VGNC:74480
Bos taurus MAK VGNC VGNC:31152
Mus musculus MAK MGD MGI:96913
Canis familiaris MAK VGNC VGNC:42931
Rattus norvegicus MAK RGD RGD:3036
Others MAK NCBI