C4orf54
entrez
285556
canonical
uniprot
D6RIA3
canonical
ensembl
ENSG00000248713
resolver
ensp
ENSP00000427555
resolver
enst
ENST00000511828
resolver
genesymbol
C4orf54
resolver
genesymbol_syn
FOPV
resolver
hgnc
HGNC:27741
resolver
uniprot_entry
CD054_HUMAN
resolver
amino_acid_sequence
MLSFHFWKSRGQPTDAASSVADGIQTPRCCRRCQANNWTGQLSYRTLATVSAGAAAPQPQTTSTASSRSLPTSLRLAAAPPQGLKNWEVVAAVAAVPTALGPVQIRGTLLRATLQPLRGQRRTQDFPSDHHCLFLSLKPGQGLIMEAAPPELNSKARQAEVGDGVSSAQDSQELKQQLWPLPKPSASSQREAKYVDMCASAEVQRESPQTMKLTLGHCPGGQRASRSPKEKAQDEPSSKTPSPQNNPASSQLSRSQHSASEEGGNFSSSSSSSPMNKAEEDGLSKMEDSTTSTGALATSSSSLGFESESGESEGCQAVGGEGEKISGGGGGGKGGGGGGAGDGTECRDIIAKSQGSRDPPKVEEAHYITTHEIQLSEVEQDMDFDVGLASRWDFEDNNVIYSFVDYASFGGSDETPGDITSLTEEDDDNSCYLSTTPSTNTTRTPSPTSSDLARPNAGRSGRDTSSTEVGSGPSDSGPTPPPTGPGTAPLTEPLPETPEAASGAAAAAASSCGSAASQILLSIKPASRAINEPSNVRAKQNIIYAAKHEGDMSLRVSTAAEHNSSSLKQNPAAAVAQDHAKKFIAVPARLQTRCGAIRAKELVDYSSGASSAVSELDDADKEVRNLTSRAFRSLAYPYFEALNISSRESSTTLSEVGFGRWSTFLDLKCGGVGARVEQSLLRSSAASVAAGLRKGSGARATADQLYIQSKKSQTKALEFVVSKVEGEIKHVETPLCFQKQVQTGSRVVTLLEPLNVRSESKASSAPGPGRATKGPGKGPGSAYTDDGSETSEGSKPTSRADGPQKSKFASSLLKNVISKKMQREHEFKMERGEVMDTSHHLSGTSKETEGARGSERQRERGLQRQSSRHSEAGSEYTVVSMSDAGGEGSVAGSKSPVFKASTPRERNAGPGRNFTDGHTEVCEIKKSASETVKGIFLRSQNSAFRSWKEKEAEKREEQAPIGKLKLPKGGDWRADLGEISASKNTIMSRLFVPNIQQTPKDKQPRKQATKYPAAQATSTAVIRPKAPEIKIRLGSVQQPSSDFNIAKLLTPKLAGGSASNLFKTIEDNSRAQQKLFRGDNLEKVPHFQVRDIRDKSKAQGPLHQVRDVRKLIKGSGDSSDKGSVTPEQGLTGPKPRQLSAAAGGSGSLSPMVITCQAVVNQREDSMDREPRESMGKGGGSRVLNSSSPEGTVLVHRASGRLPVATIAPNKPEQGSYLPVLKIVSKASTQKTPEKLKEEEVKEEGKATKPARNALEKLTAAVRSMEELYSFNRNEWKRKSDPLPMMMDSHVLSLIASEEREGVVVADGDHDKLSKRLGEVEERGTGNKAGVVLRGAPIERLQRRNSNPSAESVSARAAAFENLARERPRSLYIPPVHKDVERTQPLQPLPPLPSNRNVFTVSASSIQKTGGVAGKFPQGPSPESPSAAKGIKSQGLRSLKISPATRAPPDEVTNRKSGSNLEKSNSDCENYLTIPLKGSSAAGELLSRPGASREGPPNSSAATLCSLPPLSARSQVPSSSKGSQVSGTSRPAWRTKPDNPRETVAAPPGPQSPEHPPTTIYHQPPLPFTLQGAQPQVLCFSPPSMPAPAPAASAPVPTDPFQQAQPQQTQRKMLLDVTTGQYYLVDTPVQPMTRRLFDPETGQYVDVPMTSQQQAVAPMSISVPPLALSPGAYGPTYMIYPGFLPTVLPTNALQPTPIARAPRGSELSPMVAEPSSKEAAATFTEAPYFMASGQSPASSTSSAPAATSQLLGAKAFAQLHGKPVISITSQPLGPRIIAPPSFDGTTMSFVVEHR
uniprot
proteins
disease_involvement
DISEASE: Note=Defects in C4orf54 may cause obliterative portal venopathy (OVP), a defect characterized by lesions of the intrahepatic branches of the portal vein that may lead to the occlusion or the obliteration of the small branches of the portal vein. Obliterative portal venopathy is currently thought to be responsible for many cases of portal hypertension in the absence of cirrhosis or obstruction of large portal or hepatic veins. Authors suggest a pathogenic role of FOPV mutations in some familial cases of OPV, with a pattern of autosomal dominant inheritance with incomplete penetrance and variable expressivity. Also, FOPV mutations may be involved in some non-familial cases (PubMed:28792652). {ECO:0000269|PubMed:28792652}.
uniprot
proteins
mass_dalton
190074
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
28792652
uniprot
proteins
sequence_length
1793
uniprot
proteins