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  2. PLSCR3 - phospholipid scramblase 3 Gene

PLSCR3 - phospholipid scramblase 3 Gene

Homo sapiens
Gene ID: 57048 | Gene type: protein coding

About PLSCR3

Cytogenetic location: 17p13.1 Genomic coordinates (GRCh38): 17:7,389,727-7,394,525 (from NCBI)

This gene has 13 transcripts (splice variants), 1 gene allele, 407 orthologues and 4 paralogues. Ubiquitous expression in spleen (RPKM 12.9), fat (RPKM 12.1) and 25 other tissues.

Summary

Enables several functions, including calcium-dependent protein binding activity; metal ion binding activity; and phospholipid scramblase activity. Involved in several processes, including cardiolipin biosynthetic process; regulation of apoptotic process; and regulation of release of cytochrome c from mitochondria. Located in cytosol; mitochondrion; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

PLSCR3 Products(6)

mRNA Protein Name
NM_001201576.2 NP_001188505.1 phospholipid scramblase 3 isoform 1
NM_001369407.1 NP_001356336.1 phospholipid scramblase 3 isoform 1
NM_001369420.1 NP_001356349.1 phospholipid scramblase 3 isoform 2
NM_001369421.1 NP_001356350.1 phospholipid scramblase 3 isoform 3
NM_001369422.1 NP_001356351.1 phospholipid scramblase 3 isoform 3
NM_020360.4 NP_065093.2 phospholipid scramblase 3 isoform 1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables calcium ion binding IMP
IMP: Inferred from mutant phenotype
18358005 GOA
enables calcium-dependent protein binding IPI
IPI: Inferred from physical interaction
18256029 GOA
enables lead ion binding IMP
IMP: Inferred from mutant phenotype
31769662 GOA
enables magnesium ion binding IMP
IMP: Inferred from mutant phenotype
29337693 GOA
enables mercury ion binding IMP
IMP: Inferred from mutant phenotype
31769662 GOA
enables phospholipid scramblase activity IMP
IMP: Inferred from mutant phenotype
14573790 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
12649167 GOA
Biological Process GO Annotation Evidence Reference Source
involved in apoptotic process IMP
IMP: Inferred from mutant phenotype
12649167 GOA
involved in cardiolipin biosynthetic process IMP
IMP: Inferred from mutant phenotype
16939411 GOA
involved in regulation of apoptotic process IMP
IMP: Inferred from mutant phenotype
14573790 GOA
involved in regulation of release of cytochrome c from mitochondria IMP
IMP: Inferred from mutant phenotype
14573790 GOA
Cellular Component GO Annotation Evidence Reference Source
located in cytosol IDA
IDA: Inferred from direct assay
12649167 GOA
located in mitochondrion IDA
IDA: Inferred from direct assay
12649167 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
19333378 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

PLSCR3 Protein Structure

Scramblase

Scramblase: Scramblase (64 - 284)

  • 0
  • 100
  • 200
  • 295 a.a.
Protein Preferred Names Protein Names

phospholipid scramblase 3

PL scramblase 3

Related Diseases

Diseases Alias
Barth Syndrome

3-Methylglutaconic Aciduria Type 2

BTHS

Cardioskeletal Myopathy With Neutropenia And Abnormal Mitochondria

Mga Type Ii

Mga2

Mgca2

Mga Type 2

3-Methylglutaconic Aciduria Type Ii

3-Methylglutaconic Aciduria, Type Ii

Mga, Type Ii

3-Methylglutaconicaciduria Type 2

3-Methylglutaconicaciduria Type Ii

Taz Defect

3 Methylglutaconic Aciduria, Type Ii

Dnajc19 Defect

Cardioskeletal Myopathy-Neutropenia Syndrome

X-Linked Cardioskeletal Myopathy And Neutropenia

3-Alpha-Methylglutaconic Aciduria Type 2

Agm2

Cardioskeletal Myopathy-Neutropenia

Invm

Left Ventricular Non-Compaction Isolated X-Linked

Non-Compaction Of Left Ventricular Myocardium Isolated X-Linked

Agammaglobulinemia 2, Autosomal Recessive

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

Orthologs Information

Species Symbol Source ID
Mus musculus PLSCR3 MGD MGI:1917560
Felis catus PLSCR3 VGNC VGNC:64247
Bos taurus PLSCR3 VGNC VGNC:55863
Rattus norvegicus PLSCR3 RGD RGD:1307016
Macaca mulatta PLSCR3 VGNC VGNC:76035
Canis familiaris PLSCR3 VGNC VGNC:56014