CD054_HUMAN
ID CD054_HUMAN Reviewed; 1793 AA.
AC D6RIA3;
DT 25-APR-2018, integrated into UniProtKB/Swiss-Prot.
DT 13-JUL-2010, sequence version 1.
DT 03-AUG-2022, entry version 72.
DE RecName: Full=Uncharacterized protein C4orf54 {ECO:0000305};
DE AltName: Full=Familial obliterative portal venopathy {ECO:0000303|PubMed:28792652};
GN Name=C4orf54 {ECO:0000312|HGNC:HGNC:27741};
GN Synonyms=FOPV {ECO:0000303|PubMed:28792652};
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [2]
RP TISSUE SPECIFICITY, VARIANTS ARG-595; SER-1415 AND ILE-1632, AND POSSIBLE
RP INVOLVEMENT IN OBLITERATIVE PORTAL VENOPATHY.
RX PubMed=28792652; DOI=10.1111/liv.13547;
RA Besmond C., Valla D., Hubert L., Poirier K., Grosse B., Guettier C.,
RA Bernard O., Gonzales E., Jacquemin E.;
RT "Mutations in the novel gene FOPV are associated with familial autosomal
RT dominant and non-familial obliterative portal venopathy.";
RL Liver Int. 38:358-364(2018).
CC -!- TISSUE SPECIFICITY: Expressed in muscle, heart, kidney and liver but
CC barely detectable in lung, pancreas and brain. In liver veins,
CC expressed in hepatic vein, extrahepatic portal vein and intrahepatic
CC portal vein. {ECO:0000269|PubMed:28792652}.
CC -!- DISEASE: Note=Defects in C4orf54 may cause obliterative portal
CC venopathy (OVP), a defect characterized by lesions of the intrahepatic
CC branches of the portal vein that may lead to the occlusion or the
CC obliteration of the small branches of the portal vein. Obliterative
CC portal venopathy is currently thought to be responsible for many cases
CC of portal hypertension in the absence of cirrhosis or obstruction of
CC large portal or hepatic veins. Authors suggest a pathogenic role of
CC FOPV mutations in some familial cases of OPV, with a pattern of
CC autosomal dominant inheritance with incomplete penetrance and variable
CC expressivity. Also, FOPV mutations may be involved in some non-familial
CC cases (PubMed:28792652). {ECO:0000269|PubMed:28792652}.
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DR EMBL; AC083902; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS87246.1; -.
DR RefSeq; XP_006714493.1; XM_006714430.3.
DR AlphaFoldDB; D6RIA3; -.
DR IntAct; D6RIA3; 1.
DR STRING; 9606.ENSP00000427555; -.
DR iPTMnet; D6RIA3; -.
DR PhosphoSitePlus; D6RIA3; -.
DR BioMuta; ENSG00000248713; -.
DR jPOST; D6RIA3; -.
DR MassIVE; D6RIA3; -.
DR PaxDb; D6RIA3; -.
DR PeptideAtlas; D6RIA3; -.
DR PRIDE; D6RIA3; -.
DR Ensembl; ENST00000511828.2; ENSP00000427555.1; ENSG00000248713.2.
DR GeneID; 285556; -.
DR MANE-Select; ENST00000511828.2; ENSP00000427555.1; NM_001354435.2; NP_001341364.1.
DR UCSC; uc003hvd.4; human.
DR CTD; 285556; -.
DR DisGeNET; 285556; -.
DR GeneCards; C4orf54; -.
DR HGNC; HGNC:27741; C4orf54.
DR HPA; ENSG00000248713; Tissue enriched (skeletal).
DR MIM; 617881; gene.
DR neXtProt; NX_D6RIA3; -.
DR OpenTargets; ENSG00000248713; -.
DR VEuPathDB; HostDB:ENSG00000248713; -.
DR eggNOG; ENOG502QW5W; Eukaryota.
DR GeneTree; ENSGT00730000111645; -.
DR HOGENOM; CLU_003127_0_0_1; -.
DR InParanoid; D6RIA3; -.
DR OMA; IYHQPPL; -.
DR OrthoDB; 231950at2759; -.
DR PhylomeDB; D6RIA3; -.
DR TreeFam; TF343894; -.
DR PathwayCommons; D6RIA3; -.
DR SignaLink; D6RIA3; -.
DR BioGRID-ORCS; 285556; 0 hits in 24 CRISPR screens.
DR GenomeRNAi; 285556; -.
DR Pharos; D6RIA3; Tdark.
DR PRO; PR:D6RIA3; -.
DR Proteomes; UP000005640; Chromosome 4.
DR RNAct; D6RIA3; protein.
DR Bgee; ENSG00000248713; Expressed in biceps brachii and 82 other tissues.
DR InterPro; IPR027838; DUF4585.
DR Pfam; PF15232; DUF4585; 1.
PE 2: Evidence at transcript level;
KW Methylation; Phosphoprotein; Reference proteome.
FT CHAIN 1..1793
FT /note="Uncharacterized protein C4orf54"
FT /id="PRO_0000444029"
FT REGION 156..189
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 204..362
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 407..505
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 757..809
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 829..917
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1090..1147
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1161..1187
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1229..1249
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1408..1465
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1482..1567
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 164..184
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 237..278
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 287..309
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 426..474
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 475..492
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 784..809
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 829..866
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1090..1116
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1118..1132
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1230..1249
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1451..1465
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1492..1532
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1542..1562
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 733
FT /note="Phosphothreonine"
FT /evidence="ECO:0000250|UniProtKB:E0CYV9"
FT MOD_RES 1187
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:E0CYV9"
FT MOD_RES 1774
FT /note="Omega-N-methylarginine"
FT /evidence="ECO:0000250|UniProtKB:E0CYV9"
FT VARIANT 595
FT /note="G -> R (found in patients with obliterative portal
FT venopathy; unknown pathological significance;
FT dbSNP:rs1034287647)"
FT /evidence="ECO:0000269|PubMed:28792652"
FT /id="VAR_080344"
FT VARIANT 1415
FT /note="F -> S (found in a patient with obliterative portal
FT venopathy; unknown pathological significance;
FT dbSNP:rs555103041)"
FT /evidence="ECO:0000269|PubMed:28792652"
FT /id="VAR_080345"
FT VARIANT 1632
FT /note="T -> I (found in patients with obliterative portal
FT venopathy; unknown pathological significance)"
FT /evidence="ECO:0000269|PubMed:28792652"
FT /id="VAR_080346"
SQ SEQUENCE 1793 AA; 190074 MW; F6B1FAC3A21475FF CRC64;
MLSFHFWKSR GQPTDAASSV ADGIQTPRCC RRCQANNWTG QLSYRTLATV SAGAAAPQPQ
TTSTASSRSL PTSLRLAAAP PQGLKNWEVV AAVAAVPTAL GPVQIRGTLL RATLQPLRGQ
RRTQDFPSDH HCLFLSLKPG QGLIMEAAPP ELNSKARQAE VGDGVSSAQD SQELKQQLWP
LPKPSASSQR EAKYVDMCAS AEVQRESPQT MKLTLGHCPG GQRASRSPKE KAQDEPSSKT
PSPQNNPASS QLSRSQHSAS EEGGNFSSSS SSSPMNKAEE DGLSKMEDST TSTGALATSS
SSLGFESESG ESEGCQAVGG EGEKISGGGG GGKGGGGGGA GDGTECRDII AKSQGSRDPP
KVEEAHYITT HEIQLSEVEQ DMDFDVGLAS RWDFEDNNVI YSFVDYASFG GSDETPGDIT
SLTEEDDDNS CYLSTTPSTN TTRTPSPTSS DLARPNAGRS GRDTSSTEVG SGPSDSGPTP
PPTGPGTAPL TEPLPETPEA ASGAAAAAAS SCGSAASQIL LSIKPASRAI NEPSNVRAKQ
NIIYAAKHEG DMSLRVSTAA EHNSSSLKQN PAAAVAQDHA KKFIAVPARL QTRCGAIRAK
ELVDYSSGAS SAVSELDDAD KEVRNLTSRA FRSLAYPYFE ALNISSRESS TTLSEVGFGR
WSTFLDLKCG GVGARVEQSL LRSSAASVAA GLRKGSGARA TADQLYIQSK KSQTKALEFV
VSKVEGEIKH VETPLCFQKQ VQTGSRVVTL LEPLNVRSES KASSAPGPGR ATKGPGKGPG
SAYTDDGSET SEGSKPTSRA DGPQKSKFAS SLLKNVISKK MQREHEFKME RGEVMDTSHH
LSGTSKETEG ARGSERQRER GLQRQSSRHS EAGSEYTVVS MSDAGGEGSV AGSKSPVFKA
STPRERNAGP GRNFTDGHTE VCEIKKSASE TVKGIFLRSQ NSAFRSWKEK EAEKREEQAP
IGKLKLPKGG DWRADLGEIS ASKNTIMSRL FVPNIQQTPK DKQPRKQATK YPAAQATSTA
VIRPKAPEIK IRLGSVQQPS SDFNIAKLLT PKLAGGSASN LFKTIEDNSR AQQKLFRGDN
LEKVPHFQVR DIRDKSKAQG PLHQVRDVRK LIKGSGDSSD KGSVTPEQGL TGPKPRQLSA
AAGGSGSLSP MVITCQAVVN QREDSMDREP RESMGKGGGS RVLNSSSPEG TVLVHRASGR
LPVATIAPNK PEQGSYLPVL KIVSKASTQK TPEKLKEEEV KEEGKATKPA RNALEKLTAA
VRSMEELYSF NRNEWKRKSD PLPMMMDSHV LSLIASEERE GVVVADGDHD KLSKRLGEVE
ERGTGNKAGV VLRGAPIERL QRRNSNPSAE SVSARAAAFE NLARERPRSL YIPPVHKDVE
RTQPLQPLPP LPSNRNVFTV SASSIQKTGG VAGKFPQGPS PESPSAAKGI KSQGLRSLKI
SPATRAPPDE VTNRKSGSNL EKSNSDCENY LTIPLKGSSA AGELLSRPGA SREGPPNSSA
ATLCSLPPLS ARSQVPSSSK GSQVSGTSRP AWRTKPDNPR ETVAAPPGPQ SPEHPPTTIY
HQPPLPFTLQ GAQPQVLCFS PPSMPAPAPA ASAPVPTDPF QQAQPQQTQR KMLLDVTTGQ
YYLVDTPVQP MTRRLFDPET GQYVDVPMTS QQQAVAPMSI SVPPLALSPG AYGPTYMIYP
GFLPTVLPTN ALQPTPIARA PRGSELSPMV AEPSSKEAAA TFTEAPYFMA SGQSPASSTS
SAPAATSQLL GAKAFAQLHG KPVISITSQP LGPRIIAPPS FDGTTMSFVV EHR
