RBCC Red Blood Cell Collection

AT2B3_HUMAN

Source: PM23856902
PM22954596
Marked as 'Integral membrane protein'
Confidence: medium (present in either hRBCD or BSc_CH or PM22954596) Search PubMed for
(RBC AND this entry)
Gene names: ATP2B3
Protein names and data: AT2B3_HUMAN , Plasma membrane calcium-transporting ATPase 3; PMCA3; 3.6.3.8 , Plasma membrane calcium ATPase isoform 3; Plasma membrane calcium pump isoform 3 Lenght: 1220 a.a.
Mass: 134197 Da
fasta formatted sequence
Function: This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium out of the cell.
Catalytic activity: ATP + H(2)O + Ca(2+)(Side 1) = ADP + phosphate + Ca(2+)(Side 2).
Disease: ( OMIM: 300014 302500 ) Spinocerebellar ataxia, X-linked 1 (SCAX1) [MIM:302500]: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAX1 is characterized by hypotonia at birth, delayed motor development, gait ataxia, difficulty standing, dysarthria, and slow eye movements. Brain MRI shows cerebellar ataxia. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cell membrane; Multi-pass membrane protein.
Tissue specificity: Highly expressed in the cerebellum, particulary in the presynaptic terminals of parallel fibers- Purkinje neurons. Isoform XE and isoform XB are the most abundant isoforms and are detected at low levels in brain and fetal skeletal muscle. The other isoforms are only found at lower levels and not in fetal tissues.

Genetic variants

198 - 198 I -> M (in dbSNP:rs2269409). VAR_027928 2269409
1107 - 1107 G -> D (in SCAX1; the mutant protein is expressed at the plasma membrane but shows impaired extrusion of intracellular calcium with prolonged retention of cytoplasmic calcium compared to wild-type under physiologic conditions). VAR_069308

Database cross-references

UniProt: Q16720
Ensembl: ENST00000263519
Ensembl: ENST00000349466
Ensembl: ENST00000359149
Ensembl: ENST00000370181
Ensembl: ENST00000370186
Ensembl: ENST00000393842
Ensembl: ENST00000571862
Ensembl: ENST00000571969
Ensembl: ENST00000572057
Ensembl: ENST00000575463
Ensembl: ENST00000601388
Ensembl: ENST00000602058
MIM: 300014
MIM: 302500
neXtProt: NX_Q16720
Antibodypedia: Q16720 (may not find the protein thus also not any antibody)
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