TMEM30A - transmembrane protein 30A Gene

Homo sapiens

Also known as CDC50A; C6orf67

Gene ID: 55754 | Gene type: protein coding

About TMEM30A

Cytogenetic location: 6q14.1 Genomic coordinates (GRCh38): 6:75,252,924-75,284,792 (from NCBI)

This gene has 9 transcripts (splice variants), 284 orthologues and 1 paralogue. Ubiquitous expression in brain (RPKM 71.6), lung (RPKM 58.3) and 25 other tissues.

Summary

Enables aminophospholipid flippase activity. Involved in several processes, including phospholipid transport; positive regulation of transport; and xenobiotic transmembrane transport. Located in endoplasmic reticulum and plasma membrane. Part of phospholipid-translocating ATPase complex. [provided by Alliance of Genome Resources, Apr 2022]

TMEM30A Products(2)

mRNA	Protein	Name
NM_001143958.2	NP_001137430.1	cell cycle control protein 50A isoform 2
NM_018247.4	NP_060717.1	cell cycle control protein 50A isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables aminophospholipid flippase activity	IDA IDA: Inferred from direct assay	20510206	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	19731236	GOA
enables structural molecule activity	IDA IDA: Inferred from direct assay	32493773	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in aminophospholipid transport	IDA IDA: Inferred from direct assay	20510206	GOA
involved in phospholipid translocation	IDA IDA: Inferred from direct assay	20510206	GOA
involved in positive regulation of phospholipid translocation	IDA IDA: Inferred from direct assay	25947375	GOA
involved in positive regulation of protein exit from endoplasmic reticulum	IDA IDA: Inferred from direct assay	21914794	GOA
involved in protein localization to endosome	IMP IMP: Inferred from mutant phenotype	21914794	GOA
involved in xenobiotic transmembrane transport	IDA IDA: Inferred from direct assay	20510206	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in early endosome membrane	IDA IDA: Inferred from direct assay	31571211	GOA
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	21914794	GOA
located in late endosome membrane	IDA IDA: Inferred from direct assay	26567335	GOA
located in membrane	IDA IDA: Inferred from direct assay	25947375	GOA
located in membrane	IPI IPI: Inferred from physical interaction	31571211	GOA
part of phospholipid-translocating ATPase complex	IDA IDA: Inferred from direct assay	25239307	GOA
part of phospholipid-translocating ATPase complex	IPI IPI: Inferred from physical interaction	20947505	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	20510206	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

TMEM30A Protein Structure

CDC50

0
100
200
300
361 a.a.

Protein Preferred Names

Protein Names

cell cycle control protein 50A

P4-ATPase flippase complex beta subunit TMEM30A

TMEM30A Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	TMEM30A	Q9NV96	ATP11C	Homo sapiens	Q8NB49	Anti Tag CoIP	21914794
Intra	TMEM30A	Q9NV96	ATP11B	Homo sapiens	Q9Y2G3	Anti Tag CoIP	21914794
Intra	TMEM30A	Q9NV96	ATP11A	Homo sapiens	P98196	Anti Tag CoIP	21914794
Intra	TMEM30A	Q9NV96	APP	Homo sapiens	P05067	Anti Tag CoIP	33961781
Intra	TMEM30A	Q9NV96	ATP8B1	Homo sapiens	O43520	Anti Tag CoIP	19731236
Intra	TMEM30A	Q9NV96	ATP8B1	Homo sapiens	O43520	Anti Tag CoIP	20947505
Intra	TMEM30A	Q9NV96	ATP8B4	Homo sapiens	Q8TF62	Anti Tag CoIP	20947505
Intra	TMEM30A	Q9NV96	ATP8B4	Homo sapiens	Q8TF62	Confocal	20947505
Intra	TMEM30A	Q9NV96	ATP8B2	Homo sapiens	P98198	Anti Tag CoIP	20947505
Intra	TMEM30A	Q9NV96	ATP8A1	Homo sapiens	Q9Y2Q0	Anti Tag CoIP	20947505
Intra	TMEM30A	Q9NV96	ATP8A1	Homo sapiens	Q9Y2Q0	Anti Tag CoIP	21914794

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Cholestasis, Benign Recurrent Intrahepatic, 1

Benign Recurrent Intrahepatic Cholestasis	BRIC1
Summerskill Syndrome	Bric
Summerskill-Walshe-Tygstrup Syndrome	Cholestasis, Benign Recurrent Intrahepatic
Benign Recurrent Intrahepatic Cholestasis 1	Benign Recurrent Intrahepatic Cholestasis Type 1
Bric Type 1	Low Gamma-Gt Familial Intrahepatic Cholestasis
Recurrent Familial Intrahepatic Cholestasis	Cholestasis, Benign Recurrent Intrahepatic 1
Mild Atp8b1 Deficiency	Recurrent Familial Intrahepatic Cholestasis 1
Abcb11-Related Intrahepatic Cholestasis	Atp8b1-Related Intrahepatic Cholestasis
Cholestasis, Intrahepatic, Recurrent, Benign, Type 1	Progressive Intrahepatic Cholestasis
Cholestasis, Progressive Familial Intrahepatic 3	Bric - [Benign Recurrent Intrahepatic Cholestasis]

Intrahepatic Cholestasis

Cholestasis, Intrahepatic	Neonatal Intrahepatic Cholestasis
Cholestasis Intrahepatic	Cholestasis Of Pregnancy

X-Linked Nephrolithiasis Type I

Nephrolithiasis 1	Nephrolithiasis X-Linked Recessive Type 1
Nphl1	X-Linked Nephrolithiasis With Renal Failure
X-Linked Recessive Urolithiasis Type 1	Xrn

Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1

Dysequilibrium Syndrome	CAMRQ1
Des	Cerebellar Ataxia, Intellectual Disability, And Dysequilibrium Syndrome 1
Cerebellar Hypoplasia, Vldlr-Associated	Cerebellar Hypoplasia And Mental Retardation With Or Without Quadrupedal Locomotion 1
Cerebellar Ataxia, Mental Retardation And Dysequlibrium Syndrome	Uner Tan Syndrome
Vldlr Cerebellar Hypoplasia	Vldlrch
Vldlr-Associated Cerebellar Hypoplasia	Cerebellar Ataxia And Mental Retardation With Or Without Quadrupedal Locomotion 1
Cerebellar Ataxia, Congenital, And Mental Retardation, Autosomal Recessive	Camrq
Cerebellar Ataxia, Mental Retardation, Dysequilibrium Syndrome 1	Cerebellar Disorder, Nonprogressive, With Intellectual Disability
Cerebellar Hypoplasia, Vldlr Associated	Autosomal Recessive Cerebellar Ataxia With Mental Retardation
Autosomal Recessive Cerebellar Hypoplasia With Cerebral Gyral Simplification	Cerebellar Disorder, Nonprogressive, With Mental Retardation
Cerebellar Hypoplasia And Mental Retardation With Or Without Quadrupedal Locomotion	Chmrq1
Des-Vldlr	Dysequilibrium Syndrome-Vldlr
Vldlr-Ch	Camrq Syndrome
Cerebellar Ataxia-Intellectual Disability-Dysequilibrium Syndrome Syndrome	Non-Progressive Cerebellar Ataxia-Intellectual Disability Syndrome
Uts	Cerebellar Hypoplasia Vldlr-Associated
Dialysis Disequilibrium Syndrome

Cholestasis, Progressive Familial Intrahepatic, 1

PFIC1	Byler Disease
Cholestasis, Progressive Familial Intrahepatic 1	Progressive Familial Intrahepatic Cholestasis 1
Progressive Familial Intrahepatic Cholestasis Type 1	Fic1 Deficiency
Byler'S Disease	Cholestasis, Fatal Intrahepatic
Progressive Familial Intrahepatic Cholestasis	Severe Atp8b1 Deficiency
Fatal Intrahepatic Cholestasis	Cholestasis, Intrahepatic, Familial, Progressive, Type 1
Progressive Intrahepatic Cholestasis	Cholestasis, Progressive Familial Intrahepatic 3

Cholestasis, Benign Recurrent Intrahepatic, 2

BRIC2	Benign Recurrent Intrahepatic Cholestasis 2
Benign Recurrent Intrahepatic Cholestasis Type 2	Bric Type 2
Cholestasis, Intrahepatic, Recurrent, Benign, Type 2	Cholestasis, Benign Recurrent Intrahepatic 2

Progressive Familial Intrahepatic Cholestasis

Abcb4-Related Intrahepatic Cholestasis	Cholestasis, Progressive Familial Intrahepatic
Pfic	Byler Disease
Abcb11-Related Intrahepatic Cholestasis	Atp8b1-Related Intrahepatic Cholestasis
Bsep Deficiency	Byler Disease
Byler Syndrome	Fic1 Deficiency
Low Γ-Gt Familial Intrahepatic Cholestasis	Mdr3 Deficiency
Pfic	Cholestasis, Intrahepatic, Familial, Progressive
Pfic - [Progressive Familial Intrahepatic Cholestasis]

Bilirubin Metabolic Disorder

Hyperbilirubinemia	Hereditary Hyperbilirubinemia
Hyperbilirubinemia, Hereditary	Hyperbilirubinaemia

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14716	TMEM30A Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	TMEM30A	RGD	RGD:1303315
Mus musculus	TMEM30A	MGD	MGI:106402
Bos taurus	TMEM30A	VGNC	VGNC:36074
Felis catus	TMEM30A	VGNC	VGNC:66339
Macaca mulatta	TMEM30A	VGNC	VGNC:79042
Canis familiaris	TMEM30A	VGNC	VGNC:47570

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