1. Gene
  2. TMEM63A - transmembrane protein 63A Gene

TMEM63A - transmembrane protein 63A Gene

中文名称:跨膜蛋白 63A

种属: Homo sapiens

同用名: HLD19; KIAA0792

基因 ID: 9725 | 基因类型: protein coding

关于 TMEM63A

Cytogenetic location: 1q42.12 Genomic coordinates (GRCh38): 1:225,840,556-225,882,380 (from NCBI)

This gene has 9 transcripts (splice variants), 198 orthologues, 2 paralogues and is associated with 2 phenotypes. Ubiquitous expression in salivary gland (RPKM 15.4), prostate (RPKM 13.6) and 25 other tissues.

功能概要

启用机械敏感离子通道活动。预计参与阳离子跨膜转运。位于中心粒卫星和溶酶体膜。与髓鞘形成性脑白质营养不良有关。 [由基因组资源联盟提供,2022 年 4 月]

Enables mechanosensitive ion channel activity. Predicted to be involved in cation transmembrane transport. Located in centriolar satellite and lysosomal membrane. Implicated in hypomyelinating leukodystrophy. [provided by Alliance of Genome Resources, Apr 2022]

TMEM63A 基因产物(1)

mRNA Protein Name
NM_014698.3 NP_055513.2 CSC1-like protein 1
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables mechanosensitive monoatomic ion channel activity IDA
IDA: 通过直接分析推断
30382938 GOA
enables mechanosensitive monoatomic ion channel activity IMP
IMP: 通过突变表型推断
31587869 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
28870237 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in early endosome membrane IDA
IDA: 通过直接分析推断
38127458 GOA
located in lysosomal membrane IDA
IDA: 通过直接分析推断
20957757 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
37543036 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

TMEM63A 蛋白结构

RSN1_TM

RSN1_TM: Late exocytosis, associated with Golgi transport (53 - 212)

PHM7_cyt

PHM7_cyt: Cytosolic domain of 10TM putative phosphate transporter (262 - 327)

RSN1_7TM

RSN1_7TM: Calcium-dependent channel, 7TM region, putative phosphate (350 - 692)

  • 0
  • 200
  • 400
  • 600
  • 807 a.a.
蛋白主名 其他名称

CSC1-like protein 1

关联疾病

疾病名称 别名
Leukodystrophy, Hypomyelinating, 19, Transient Infantile

HLD19

Hypomyelinating Leukodystrophy

Hld

Leukodystrophy, Hypomyelinating

Leukodystrophy

Leukodystrophies

Congenital Nystagmus

Nystagmus, Congenital

Nystagmus Congenital

Hereditary Spastic Paraplegia 72

Autosomal Spastic Paraplegia Type 72

Spg72

Spastic Paraplegia 72, Autosomal Recessive

Leukodystrophy, Hypomyelinating, 11

Hypomyelinating Leukodystrophy 11

HLD11

4h Leukodystrophy 3

Leukodystrophy, Hypomyelinating, Type 11

Leukodystrophy, Hypomyelinating, 4

Mitochondrial Hsp60 Chaperonopathy

Hypomyelinating Leukodystrophy 4

HLD4

Mitchap60 Disease

Pelizaeus-Merzbacher-Like Disease Due To Hspd1 Mutation

Mitchap-60 Disease

Leukodystrophy, Hypomyelinating, Type 4

Spastic Paraplegia 25, Autosomal Recessive

SPG25

Hereditary Spastic Paraplegia 25

Autosomal Recessive Spastic Paraplegia Type 25

Spastic Paraplegia 25

Disc Herniation With Spastic Paraplegia, Autosomal Recessive

Autosomal Recessive Spastic Paraplegia 25

Spinal Disc Herniation With Autosomal Recessive Spastic Paraplegia

Autosomal Recessive Spastic Paraplegia-Disc Herniation Syndrome

Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism

HLD7

Leukoencephalopathy-Ataxia-Hypodontia-Hypomyelination Syndrome

Addh

Leukodystrophy, Hypomyelinating, With Hypodontia And Hypogonadotropic Hypogonadism

4h Syndrome

4h Leukodystrophy 1

Hypomyelinating Leukodystrophy 7 With Or Without Oligodontia And-Or Hypogonadotropic Hypogonadism

Hypomyelination-Cerebellar Atrophy-Hypoplasia Of The Corpus Callosum Syndrome

Leukodystrophy With Oligodontia

Tach Syndrome

Tremor-Ataxia-Central Hypomyelination Syndrome

Leukoencephalopathy, Hypomyelinating, With Ataxia And Delayed Dentition

Ataxia, Delayed Dentition, And Hypomyelination

Ataxia-Delayed Dentition-Hypomyelination Syndrome

Odontoleukodystrophy

Dentoleukoencephalopathy

Hypomyelinating Leukodystrophy-Ataxia-Hypodontia-Hypomyelination Syndrome

Ataxia-Delayed Dentition-Hypomyelination Syndrome

Ataxia Delayed Dentition And Hypomyelination

Leukodystrophy Hypomyelinating With Hypodontia And Hypogonadotropic Hypogonadism 4h Syndrome

Leukoencephalopathy Hypomyelinating With Ataxia And Delayed Dentition

Tach

Tremor-Ataxia With Central Hypomyelination

Attention Deficit Hyperactivity Disorder

Leukodystrophy, Dysmyelinating, With Oligodontia

Pathologic Nystagmus

Nystagmus

Megalencephalic Leukoencephalopathy With Subcortical Cysts

Vacuolating Megalencephalic Leukoencephalopathy With Subcortical Cysts

Mlc

Van Der Knaap Disease

Lvm

Leukoencephalopathy With Swelling And Cysts

Megalencephaly-Cystic Leukodystrophy

Megalencephalic Leukodystrophy Megalencephaly-Cystic Leukodystorphy Syndrome

Infantile Leukoencephalopathy And Megalencephaly

Leukoencephalopathy With Swelling And A Discrepantly Mild Course

Vacuolating Leukoencephalopathy

Megalencephalic Leukodystrophy

Megalencephaly-Cystic Leukodystrophy Syndrome

Van Der Knaap Syndrome

Leukoencephalopathy, Megalencephalic, With Subcortical Cysts

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 TMEM63A RGD RGD:1306829
Mus musculus TMEM63A MGD MGI:2384789
Canis familiaris TMEM63A VGNC VGNC:47595
Macaca mulatta TMEM63A VGNC VGNC:79777
Bos taurus TMEM63A VGNC VGNC:36103