TMEM30A - transmembrane protein 30A Gene

Also Known as CDC50A; C6orf67

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 55754

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	References	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	References	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	References	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

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 Set	/	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
Others	TMEM30A	NCBI