CRPPA
entrez
729920
canonical
uniprot
A4D126
canonical
ensembl
ENSG00000214960
resolver
ensp
ENSP00000382249
resolver
ensp
ENSP00000385478
resolver
genesymbol
CRPPA
resolver
genesymbol_syn
ISPD
resolver
hgnc
HGNC:37276
resolver
uniprot
A0A140VJM1
resolver
uniprot
A8MU35
resolver
uniprot
H9KVB2
resolver
uniprot_entry
A0A140VJM1_HUMAN
resolver
uniprot_entry
ISPD_HUMAN
resolver
uniprot_sec
A8MU35
resolver
uniprot_sec
H9KVB2
resolver
amino_acid_sequence
MEAGPPGSARPAEPGPCLSGQRGADHTASASLQSVAGTEPGRHPQAVAAVLPAGGCGERMGVPTPKQFCPILERPLISYTLQALERVCWIKDIVVAVTGENMEVMKSIIQKYQHKRISLVEAGVTRHRSIFNGLKALAEDQINSKLSKPEVVIIHDAVRPFVEEGVLLKVVTAAKEHGAAGAIRPLVSTVVSPSADGCLDYSLERARHRASEMPQAFLFDVIYEAYQQCSDYDLEFGTECLQLALKYCCTKAKLVEGSPDLWKVTYKRDLYAAESIIKERISQEICVVMDTEEDNKHVGHLLEEVLKSELNHVKVTSEALGHAGRHLQQIILDQCYNFVCVNVTTSDFQETQKLLSMLEESSLCILYPVVVVSVHFLDFKLVPPSQKMENLMQIREFAKEVKERNILLYGLLISYPQDDQKLQESLRQGAIIIASLIKERNSGLIGQLLIA
uniprot
proteins
disease_involvement
DISEASE: Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7 (MDDGA7) [MIM:614643]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound intellectual disability, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. {ECO:0000269|PubMed:22522420, ECO:0000269|PubMed:22522421, ECO:0000269|PubMed:23217329, ECO:0000269|PubMed:23288328, ECO:0000269|PubMed:24120487}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Muscular dystrophy-dystroglycanopathy limb-girdle C7 (MDDGC7) [MIM:616052]: A form of muscular dystrophy resulting from defective glycosylation of alpha-dystroglycan, and characterized by a limb-girdle phenotype with muscular weakness apparent after ambulation is achieved. MDDGC7 individuals do not show epilepsy, intellectual disability, structural eye/brain abnormalities, or white matter changes. {ECO:0000269|PubMed:23288328, ECO:0000269|PubMed:23390185, ECO:0000269|PubMed:27234031}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.7.40
uniprot
proteins
function
FUNCTION: Cytidylyltransferase required for protein O-linked mannosylation (PubMed:22522420, PubMed:22522421, PubMed:26687144, PubMed:26923585, PubMed:27130732, PubMed:27601598). Catalyzes the formation of CDP-ribitol nucleotide sugar from D-ribitol 5-phosphate (PubMed:26687144, PubMed:26923585, PubMed:27130732). CDP-ribitol is a substrate of FKTN during the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity (PubMed:26687144, PubMed:26923585, PubMed:27130732). Shows activity toward other pentose phosphate sugars and mediates formation of CDP-ribulose or CDP-ribose using CTP and ribulose-5-phosphate or ribose-5-phosphate, respectively (PubMed:26687144). Not Involved in dolichol production (PubMed:26687144). {ECO:0000269|PubMed:22522420, ECO:0000269|PubMed:22522421, ECO:0000269|PubMed:26687144, ECO:0000269|PubMed:26923585, ECO:0000269|PubMed:27130732, ECO:0000269|PubMed:27601598}.
uniprot
proteins
mass_dalton
49873
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein glycosylation. {ECO:0000269|PubMed:26687144, ECO:0000269|PubMed:26923585, ECO:0000269|PubMed:27130732}.
uniprot
proteins
protein_family
IspD subfamily
uniprot
proteins
protein_family
IspD/TarI cytidylyltransferase family
uniprot
proteins
pubmed
12690205
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
22522420
uniprot
proteins
pubmed
22522421
uniprot
proteins
pubmed
23217329
uniprot
proteins
pubmed
23288328
uniprot
proteins
pubmed
23390185
uniprot
proteins
pubmed
24120487
uniprot
proteins
pubmed
26687144
uniprot
proteins
pubmed
26923585
uniprot
proteins
pubmed
27130732
uniprot
proteins
pubmed
27234031
uniprot
proteins
pubmed
27601598
uniprot
proteins
sequence_length
451
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:26687144}.
uniprot
proteins