1. Gene
  2. MTCL1 - microtubule crosslinking factor 1 Gene

MTCL1 - microtubule crosslinking factor 1 Gene

中文名称:微管交联因子 1

种属: Homo sapiens

同用名: SOGA2; CCDC165; KIAA0802

基因 ID: 23255 | 基因类型: protein coding

关于 MTCL1

Cytogenetic location: 18p11.22 Genomic coordinates (GRCh38): 18:8,705,556-8,832,778 (from NCBI)

This gene has 17 transcripts (splice variants), 216 orthologues and 2 paralogues. Broad expression in testis (RPKM 4.1), gall bladder (RPKM 3.9) and 22 other tissues.

功能概要

启用微管结合活动。预计参与上皮细胞顶端/基底极性的建立或维持;微管束形成;和蛋白质靶向膜的正调节。位于中体和主轴杆上。 [由基因组资源联盟提供,2022 年 4 月]

Enables microtubule binding activity. Predicted to be involved in establishment or maintenance of epithelial cell apical/basal polarity; microtubule bundle formation; and positive regulation of protein targeting to membrane. Located in midbody and spindle pole. [provided by Alliance of Genome Resources, Apr 2022]

MTCL1 基因产物(6)

mRNA Protein Name
NM_001378205.1 NP_001365134.1 microtubule cross-linking factor 1 isoform 1
NM_001378206.1 NP_001365135.1 microtubule cross-linking factor 1 isoform 2
NM_001378207.1 NP_001365136.1 microtubule cross-linking factor 1 isoform 3
NM_001395220.1 NP_001382149.1 microtubule cross-linking factor 1 isoform 5
NM_001395333.1 NP_001382262.1 microtubule cross-linking factor 1 isoform 6
NM_015210.4 NP_056025.2 microtubule cross-linking factor 1 isoform 4
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 microtubule binding IDA
IDA: 通过直接分析推断
23902687 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
23902687 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in chromosome segregation IMP
IMP: 通过突变表型推断
33587225 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoskeleton IDA
IDA: 通过直接分析推断
23902687 GOA
located in kinetochore IDA
IDA: 通过直接分析推断
33587225 GOA
located in midbody IDA
IDA: 通过直接分析推断
23902687 GOA
located in spindle microtubule IDA
IDA: 通过直接分析推断
33587225 GOA
located in spindle pole IDA
IDA: 通过直接分析推断
23902687 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

MTCL1 蛋白结构

SOGA

SOGA: Protein SOGA (500 - 595)

SOGA

SOGA: Protein SOGA (629 - 722)

DUF4482

DUF4482: Domain of unknown function (DUF4482) (1228 - 1366)

  • 0
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  • 1200
  • 1500
  • 1800
  • 1905 a.a.
蛋白主名 其他名称

microtubule cross-linking factor 1

PAR-1-interacting protein

关联疾病

疾病名称 别名
Cerebellar Ataxia Type 47

Sca47

Developmental And Epileptic Encephalopathy 28

DEE28

Epileptic Encephalopathy, Early Infantile, 28

Eiee28

Developmental And Epileptic Encephalopathy, 28

Early Infantile Epileptic Encephalopathy 28

Encephalopathy, Epileptic, Early Infantile, Type 28

Spinocerebellar Ataxia, Autosomal Recessive 12

Autosomal Recessive Spinocerebellar Ataxia 12

SCAR12

Spinocerebellar Ataxia With Mental Retardation And Epilepsy

Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency

Autosomal Recessive Spinocerebellar Ataxia Type 12

Spinocerebellar Ataxia, Autosomal Recessive, 12

Ataxia, Spinocerebellar, Autosomal Recessive, Type 12

Niemann-Pick Disease, Type C1

Niemann-Pick Disease, Type C

NPC1

Niemann-Pick Disease, Type D

Niemann-Pick Disease Type C1

Niemann-Pick Disease With Cholesterol Esterification Block

Niemann-Pick Disease, Subacute Juvenile Form

Neurovisceral Storage Disease With Vertical Supranuclear Ophthalmoplegia

Npc

Niemann-Pick Disease, Chronic Neuronopathic Form

Niemann-Pick Disease Without Sphingomyelinase Deficiency

Niemann-Pick Disease Type C

Niemann-Pick Disease Type D

Niemann-Pick C1 Disease

Niemann-Pick Disease C1

Niemann-Pick Disease Chronic Neuronopathic Form

Niemann-Pick Disease Nova Scotian Type

Niemann-Pick Disease Subacute Juvenile Form

Niemann-Pick Disease Type Ii

Niemann-Picks Disease Type C

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
Rattus norvegicus MTCL1 RGD RGD:1308319
Mus musculus MTCL1 MGD MGI:1915867
Felis catus MTCL1 VGNC VGNC:63642
Canis familiaris MTCL1 VGNC VGNC:43460
Macaca mulatta MTCL1 VGNC VGNC:74852
Bos taurus MTCL1 VGNC VGNC:31718