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TMEM63A - transmembrane protein 63A Gene

Also Known as HLD19; KIAA0792

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9725

About 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.

Summary

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 Products (1)

mRNA	Protein	Name
NM_014698.3	NP_055513.2	CSC1-like protein 1

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables mechanosensitive monoatomic ion channel activity	IDA IDA: Inferred from direct assay	30382938	GOA
enables mechanosensitive monoatomic ion channel activity	IMP IMP: Inferred from mutant phenotype	31587869	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	28870237	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in early endosome membrane	IDA IDA: Inferred from direct assay	38127458	GOA
located in lysosomal membrane	IDA IDA: Inferred from direct assay	20957757	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	37543036	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TMEM63A Protein Structure

RSN1_TM

PHM7_cyt

RSN1_7TM

0
200
400
600
807 a.a.

Protein Preferred Names	Protein Names
CSC1-like protein 1

Related Diseases

Diseases	Alias
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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14732	TMEM63A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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