1. Gene
  2. STK36 - serine/threonine kinase 36 Gene

STK36 - serine/threonine kinase 36 Gene

中文名称:丝氨酸/苏氨酸激酶 36

种属: Homo sapiens

同用名: FU; CILD46

基因 ID: 27148 | 基因类型: protein coding

关于 STK36

Cytogenetic location: 2q35 Genomic coordinates (GRCh38): 2:218,672,086-218,702,717 (from NCBI)

This gene has 16 transcripts (splice variants), 201 orthologues, 1 paralogue and is associated with 2 phenotypes. Broad expression in testis (RPKM 24.8), gall bladder (RPKM 6.4) and 21 other tissues.

功能概要

该基因编码丝氨酸/苏氨酸激酶家族的一个成员。该家族成员类似于在 Hedgehog 信号通路中起关键作用的果蝇蛋白。这种人类蛋白质是 Gli 锌指转录因子的正调节因子。同源小鼠基因的敲除研究表明,该人类基因的缺陷可能导致先天性脑积水,这可能是由于活动纤毛的功能缺陷所致。由于 Hedgehog 信号在某些类型的胃肠道癌症中经常被激活,因此有人认为该基因是治疗这些癌症的靶标。该基因的可变剪接导致多个转录变体。[RefSeq 提供,2011 年 8 月]

This gene encodes a member of the serine/threonine kinase family of Enzymes. This family member is similar to a Drosophila protein that plays a key role in the Hedgehog signaling pathway. This human protein is a positive regulator of the Gli zinc-finger transcription factors. Knockout studies of the homologous mouse gene suggest that defects in this human gene may lead to congenital hydrocephalus, possibly due to a functional defect in motile cilia. Because Hedgehog signaling is frequently activated in certain kinds of gastrointestinal cancers, it has been suggested that this gene is a target for the treatment of these cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]

STK36 基因产物(3)

mRNA Protein Name
NM_001243313.2 NP_001230242.1 serine/threonine-protein kinase 36 isoform 2
NM_001369423.1 NP_001356352.1 serine/threonine-protein kinase 36 isoform 1
NM_015690.5 NP_056505.2 serine/threonine-protein kinase 36 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
10806483 GOA
enables protein serine/threonine kinase activity IMP
IMP: 通过突变表型推断
31279575 GOA
enables transcription corepressor binding IDA
IDA: 通过直接分析推断
10806483 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in axoneme assembly IMP
IMP: 通过突变表型推断
28543983 GOA
involved in cilium assembly IMP
IMP: 通过突变表型推断
28543983 GOA
involved in regulation of DNA-binding transcription factor activity IDA
IDA: 通过直接分析推断
10806483 GOA
involved in smoothened signaling pathway IMP
IMP: 通过突变表型推断
31279575 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
10806483 GOA
located in nucleus IDA
IDA: 通过直接分析推断
10806483 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

STK36 蛋白结构

Pkinase

Pkinase: Protein kinase domain (4 - 254)

HEAT_2

HEAT_2: HEAT repeats (1157 - 1258)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1315 a.a.
蛋白主名 其他名称

serine/threonine-protein kinase 36

fused homolog

STK36 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
STK36 Q9NRP7 SUFU Homo sapiens Q9UMX1
Anti Tag CoIP
10806483
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
Ciliary Dyskinesia, Primary, 46

CILD46

Primary Ciliary Dyskinesia

Immotile Cilia Syndrome

Kartagener Syndrome

Dextrocardia Bronchiectasis And Sinusitis

Pcd

Ciliary Motility Disorders

Ciliary Motility Disorder

Immotile Ciliary Syndrome

Ciliary Dyskinesia Primary

Ics

Polynesian Bronchiectasis

Dextrocardia-Bronchiectasis-Sinusitis Syndrome

Immotile Cilia Syndrome, Kartagener Type

Primary Ciliary Dyskinesia And Situs Inversus

Primary Ciliary Dyskinesia, Kartagener Type

Siewert Syndrome

Dyskinesia, Ciliary, Primary

Congenital Hydrocephalus

Hydrocephalus

Hydrocephalus Adverse Event

Hydrocephalus, Nonsyndromic, Autosomal Recessive 1

Hydrocephalus In Newborn

Congenital Hydrocephaly

Hydrocephalus

Hydrocephalus, Nonsyndromic, Autosomal Recessive

Hydrocephalus, X-Linked

Hydrocephalus Adverse Event

Hydrocephaly Nos

Cervical Large Cell Neuroendocrine Carcinoma
Nivelon-Nivelon-Mabille Syndrome

Chondrodysplasia-Pseudohermaphroditism Syndrome

NNMS

Chondrodysplasia-Disorder Of Sex Development Syndrome

Nivelon Nivelon Mabille Syndrome

Chromosome 2q35 Duplication Syndrome

Syndactyly

Syndactyly Type 1

Sdty1

Zygodactyly

Syndactyly, Type I

Sd1

Syndactyly, Type 1, With Or Without Craniosynostosis

Symphalangism

Non-Syndromic Syndactyly

Symphalangy

Webbing Of Digits

Syndactyly, Type 1

Brachydactyly, Type A1

Brachydactyly Type A1

BDA1

Farabee-Type Brachydactyly

Farabee Type Brachydactyly

Brachydactyly Farabee Type

Brachydactyly, Farabee Type

Brachydactyly A1

Brachydactyly

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
Mus musculus STK36 MGD MGI:1920831
Rattus norvegicus STK36 RGD RGD:1307318
Macaca mulatta STK36 VGNC VGNC:78145
Canis familiaris STK36 VGNC VGNC:46918
Felis catus STK36 VGNC VGNC:65785
Bos taurus STK36 VGNC VGNC:35398