PCYT2
entrez
5833
canonical
uniprot
Q99447
canonical
ensembl
ENSG00000185813
resolver
ensp
ENSP00000331719
resolver
ensp
ENSP00000439245
resolver
ensp
ENSP00000442050
resolver
ensp
ENSP00000458330
resolver
ensp
ENSP00000458931
resolver
ensp
ENSP00000459044
resolver
ensp
ENSP00000461190
resolver
ensp
ENSP00000553738
resolver
enst
ENST00000571105
resolver
genesymbol
PCYT2
resolver
hgnc
HGNC:8756
resolver
uniprot
B3KSC8
resolver
uniprot
B7Z4W6
resolver
uniprot
B7Z7A5
resolver
uniprot
B7ZAS0
resolver
uniprot
F5H8B1
resolver
uniprot
I3L1R7
resolver
uniprot
Q6IBM3
resolver
uniprot
Q96G08
resolver
uniprot_entry
B3KSC8_HUMAN
resolver
uniprot_entry
B7Z4W6_HUMAN
resolver
uniprot_entry
I3L1R7_HUMAN
resolver
uniprot_entry
PCY2_HUMAN
resolver
uniprot_sec
B7Z7A5
resolver
uniprot_sec
B7ZAS0
resolver
uniprot_sec
F5H8B1
resolver
uniprot_sec
Q6IBM3
resolver
uniprot_sec
Q96G08
resolver
amino_acid_sequence
MIRNGRGAAGGAEQPGPGGRRAVRVWCDGCYDMVHYGHSNQLRQARAMGDYLIVGVHTDEEIAKHKGPPVFTQEERYKMVQAIKWVDEVVPAAPYVTTLETLDKYNCDFCVHGNDITLTVDGRDTYEEVKQAGRYRECKRTQGVSTTDLVGRMLLVTKAHHSSQEMSSEYREYADSFGKCPGGRNPWTGVSQFLQTSQKIIQFASGKEPQPGETVIYVAGAFDLFHIGHVDFLEKVHRLAERPYIIAGLHFDQEVNHYKGKNYPIMNLHERTLSVLACRYVSEVVIGAPYAVTAELLSHFKVDLVCHGKTEIIPDRDGSDPYQEPKRRGIFRQIDSGSNLTTDLIVQRIITNRLEYEARNQKKEAKELAFLEAARQQAAQPLGERDGDF
uniprot
proteins
disease_involvement
DISEASE: Spastic paraplegia 82, autosomal recessive (SPG82) [MIM:618770]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG82 is a complicated form characterized by global developmental delay with regression, spastic para- or tetraparesis, epilepsy and progressive cerebral and cerebellar atrophy. {ECO:0000269|PubMed:31637422}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.7.14
uniprot
proteins
function
FUNCTION: Ethanolamine-phosphate cytidylyltransferase that catalyzes the second step in the synthesis of phosphatidylethanolamine (PE) from ethanolamine via the CDP-ethanolamine pathway (PubMed:31637422, PubMed:9083101). Phosphatidylethanolamine is a dominant inner-leaflet phospholipid in cell membranes, where it plays a role in membrane function by structurally stabilizing membrane-anchored proteins, and participates in important cellular processes such as cell division, cell fusion, blood coagulation, and apoptosis (PubMed:9083101). {ECO:0000269|PubMed:31637422, ECO:0000269|PubMed:9083101, ECO:0000303|PubMed:9083101}.
uniprot
proteins
mass_dalton
43835
uniprot
proteins
pathway_participation
PATHWAY: Phospholipid metabolism; phosphatidylethanolamine biosynthesis; phosphatidylethanolamine from ethanolamine: step 2/3. {ECO:0000269|PubMed:31637422, ECO:0000269|PubMed:9083101}.
uniprot
proteins
protein_family
Cytidylyltransferase family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
31637422
uniprot
proteins
pubmed
9083101
uniprot
proteins
sequence_length
389
uniprot
proteins