HPCA
entrez
3208
canonical
uniprot
P84074
canonical
ensembl
ENSG00000121905
resolver
ensp
ENSP00000362566
resolver
ensp
ENSP00000524830
resolver
ensp
ENSP00000524831
resolver
ensp
ENSP00000524832
resolver
ensp
ENSP00000524833
resolver
ensp
ENSP00000617093
resolver
ensp
ENSP00000617094
resolver
enst
ENST00000373467
resolver
enst
ENST00000854771
resolver
enst
ENST00000854772
resolver
enst
ENST00000854773
resolver
enst
ENST00000854774
resolver
enst
ENST00000947034
resolver
enst
ENST00000947035
resolver
genesymbol
HPCA
resolver
genesymbol_syn
BDR2
resolver
hgnc
HGNC:5144
resolver
uniprot
B2R9T3
resolver
uniprot
D3DPQ7
resolver
uniprot
P32076
resolver
uniprot
P41211
resolver
uniprot
P70510
resolver
uniprot_entry
HPCA_HUMAN
resolver
uniprot_sec
B2R9T3
resolver
uniprot_sec
D3DPQ7
resolver
uniprot_sec
P32076
resolver
uniprot_sec
P41211
resolver
uniprot_sec
P70510
resolver
amino_acid_sequence
MGKQNSKLRPEMLQDLRENTEFSELELQEWYKGFLKDCPTGILNVDEFKKIYANFFPYGDASKFAEHVFRTFDTNSDGTIDFREFIIALSVTSRGRLEQKLMWAFSMYDLDGNGYISREEMLEIVQAIYKMVSSVMKMPEDESTPEKRTEKIFRQMDTNNDGKLSLEEFIRGAKSDPSIVRLLQCDPSSASQF
uniprot
proteins
disease_involvement
DISEASE: Dystonia 2, torsion, autosomal recessive (DYT2) [MIM:224500]: A form of torsion dystonia, a disease defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. 'Torsion' refers to the twisting nature of body movements, often affecting the trunk. DYT2 is a slowly progressive form that first affects distal limbs and later involves the neck, orofacial, and craniocervical regions. {ECO:0000269|PubMed:25799108, ECO:0000269|PubMed:28398555}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Calcium-binding protein that may play a role in the regulation of voltage-dependent calcium channels (PubMed:28398555). May also play a role in cyclic-nucleotide-mediated signaling through the regulation of adenylate and guanylate cyclases (By similarity). {ECO:0000250|UniProtKB:P84076, ECO:0000269|PubMed:28398555}.
uniprot
proteins
mass_dalton
22427
uniprot
proteins
post_translational_modification
PTM: Myristoylation facilitates association with membranes. {ECO:0000250|UniProtKB:P84076}.
uniprot
proteins
protein_family
Recoverin family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
25799108
uniprot
proteins
pubmed
28398555
uniprot
proteins
pubmed
8166736
uniprot
proteins
pubmed
9931466
uniprot
proteins
sequence_length
193
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000250|UniProtKB:P84076, ECO:0000269|PubMed:28398555}. Membrane {ECO:0000250|UniProtKB:P84076}; Peripheral membrane protein {ECO:0000250|UniProtKB:P84076}. Note=Association with membranes is calcium-dependent (By similarity). Enriched in the perinuclear region, probably at the trans Golgi network in response to calcium (PubMed:28398555). {ECO:0000250|UniProtKB:P84076, ECO:0000269|PubMed:28398555}.
uniprot
proteins