P12259

PTMD Annotation Information


※ Protein Information

Tag Content
UniProt Accession FA5_HUMAN; P12259;
Entrez ID 2153
GenBank Protein ID
GenBank Nucleotide ID
Protein Name Coagulation factor V (Activated protein C cofactor) (Proaccelerin, labile factor) [Cleaved into: Coagulation factor V heavy chain; Coagulation factor V light chain]
Gene Name F5
Organism Homo sapiens
NCBI Taxa ID 9606
Functional DescriptionCentral regulator of hemostasis. It serves as a critical cofactor for the prothrombinase activity of factor Xa that results in the activation of prothrombin to thrombin.
Sequence
(Fasta)
MFPGCPRLWV LVVLGTSWVG WGSQGTEAAQ LRQFYVAAQG ISWSYRPEPT NSSLNLSVTS 60
FKKIVYREYE PYFKKEKPQS TISGLLGPTL YAEVGDIIKV HFKNKADKPL SIHPQGIRYS 120
KLSEGASYLD HTFPAEKMDD AVAPGREYTY EWSISEDSGP THDDPPCLTH IYYSHENLIE 180
DFNSGLIGPL LICKKGTLTE GGTQKTFDKQ IVLLFAVFDE SKSWSQSSSL MYTVNGYVNG 240
TMPDITVCAH DHISWHLLGM SSGPELFSIH FNGQVLEQNH HKVSAITLVS ATSTTANMTV 300
GPEGKWIISS LTPKHLQAGM QAYIDIKNCP KKTRNLKKIT REQRRHMKRW EYFIAAEEVI 360
WDYAPVIPAN MDKKYRSQHL DNFSNQIGKH YKKVMYTQYE DESFTKHTVN PNMKEDGILG 420
PIIRAQVRDT LKIVFKNMAS RPYSIYPHGV TFSPYEDEVN SSFTSGRNNT MIRAVQPGET 480
YTYKWNILEF DEPTENDAQC LTRPYYSDVD IMRDIASGLI GLLLICKSRS LDRRGIQRAA 540
DIEQQAVFAV FDENKSWYLE DNINKFCENP DEVKRDDPKF YESNIMSTIN GYVPESITTL 600
GFCFDDTVQW HFCSVGTQNE ILTIHFTGHS FIYGKRHEDT LTLFPMRGES VTVTMDNVGT 660
WMLTSMNSSP RSKKLRLKFR DVKCIPDDDE DSYEIFEPPE STVMATRKMH DRLEPEDEES 720
DADYDYQNRL AAALGIRSFR NSSLNQEEEE FNLTALALEN GTEFVSSNTD IIVGSNYSSP 780
SNISKFTVNN LAEPQKAPSH QQATTAGSPL RHLIGKNSVL NSSTAEHSSP YSEDPIEDPL 840
QPDVTGIRLL SLGAGEFKSQ EHAKHKGPKV ERDQAAKHRF SWMKLLAHKV GRHLSQDTGS 900
PSGMRPWEDL PSQDTGSPSR MRPWKDPPSD LLLLKQSNSS KILVGRWHLA SEKGSYEIIQ 960
DTDEDTAVNN WLISPQNASR AWGESTPLAN KPGKQSGHPK FPRVRHKSLQ VRQDGGKSRL 1020
KKSQFLIKTR KKKKEKHTHH APLSPRTFHP LRSEAYNTFS ERRLKHSLVL HKSNETSLPT 1080
DLNQTLPSMD FGWIASLPDH NQNSSNDTGQ ASCPPGLYQT VPPEEHYQTF PIQDPDQMHS 1140
TSDPSHRSSS PELSEMLEYD RSHKSFPTDI SQMSPSSEHE VWQTVISPDL SQVTLSPELS 1200
QTNLSPDLSH TTLSPELIQR NLSPALGQMP ISPDLSHTTL SPDLSHTTLS LDLSQTNLSP 1260
ELSQTNLSPA LGQMPLSPDL SHTTLSLDFS QTNLSPELSH MTLSPELSQT NLSPALGQMP 1320
ISPDLSHTTL SLDFSQTNLS PELSQTNLSP ALGQMPLSPD PSHTTLSLDL SQTNLSPELS 1380
QTNLSPDLSE MPLFADLSQI PLTPDLDQMT LSPDLGETDL SPNFGQMSLS PDLSQVTLSP 1440
DISDTTLLPD LSQISPPPDL DQIFYPSESS QSLLLQEFNE SFPYPDLGQM PSPSSPTLND 1500
TFLSKEFNPL VIVGLSKDGT DYIEIIPKEE VQSSEDDYAE IDYVPYDDPY KTDVRTNINS 1560
SRDPDNIAAW YLRSNNGNRR NYYIAAEEIS WDYSEFVQRE TDIEDSDDIP EDTTYKKVVF 1620
RKYLDSTFTK RDPRGEYEEH LGILGPIIRA EVDDVIQVRF KNLASRPYSL HAHGLSYEKS 1680
SEGKTYEDDS PEWFKEDNAV QPNSSYTYVW HATERSGPES PGSACRAWAY YSAVNPEKDI 1740
HSGLIGPLLI CQKGILHKDS NMPMDMREFV LLFMTFDEKK SWYYEKKSRS SWRLTSSEMK 1800
KSHEFHAING MIYSLPGLKM YEQEWVRLHL LNIGGSQDIH VVHFHGQTLL ENGNKQHQLG 1860
VWPLLPGSFK TLEMKASKPG WWLLNTEVGE NQRAGMQTPF LIMDRDCRMP MGLSTGIISD 1920
SQIKASEFLG YWEPRLARLN NGGSYNAWSV EKLAAEFASK PWIQVDMQKE VIITGIQTQG 1980
AKHYLKSCYT TEFYVAYSSN QINWQIFKGN STRNVMYFNG NSDASTIKEN QFDPPIVARY 2040
IRISPTRAYN RPTLRLELQG CEVNGCSTPL GMENGKIENK QITASSFKKS WWGDYWEPFR 2100
ARLNAQGRVN AWQAKANNNK QWLEIDLLKI KKITAIITQG CKSLSSEMYV KSYTIHYSEQ 2160
GVEWKPYRLK SSMVDKIFEG NTNTKGHVKN FFNPPIISRF IRVIPKTWNQ SIALRLELFG 2220
CDIY 2225

※ PTM-Disease Association

NumPTMDiseaseCell TypeTypePTM SitePMID
1N-linked glycosylationThrombosisCN38514695241
[Reference]: This mutation creates an additional potential N-linked glycosylation site (Asn-X-Ser/Thr) in factor V (FV) at Asn357 that could interfere with secretion and/or protein interactions.

※ Disease Cross-ref Annotation

DatabaseAnnotation
CTD (Curated)
(count: 20)
(view all)
MESH:D011125 ; Adenomatous Polyposis Coli
MESH:D001778 ; Blood Coagulation Disorders
MESH:D002545 ; Brain Ischemia
MESH:D006502 ; Budd-Chiari Syndrome
MESH:D002544 ; Cerebral Infarction
MESH:D003110 ; Colonic Neoplasms
DisGeNet (Curated)
(count: 49)
(view all)
C0000737; Abdominal Pain
C0003962; Ascites
C0005779; Blood Coagulation Disorders
C0007785; Cerebral Infarction
C0007786; Brain Ischemia
C0009375; Colonic Neoplasms
HGMD
(count: 82)
(view all)
CP035430; Factor V deficiency; Complex rearrangements
CD070466; Factor V deficiency; Small deletions
CD067862; Factor V deficiency; Small deletions
CD025208; Factor V deficiency; Small deletions
CD034338; Factor V deficiency; Small deletions
CD982637; Factor V deficiency; Small deletions
GWASdb
(count: 46)
(view all)
rs6427194; Venous thromboembolism; vein disease
rs6427194; Venous thrombosis; Null
rs6427195; Venous thromboembolism; vein disease
rs6427195; Venous thrombosis; Null
rs6427196; Venous thromboembolism; vein disease
rs6427196; Venous thrombosis; Null

※ PTM Sites

PTM Modification Sites
Phosphorylation
(count: 35)
(view all)
1047      HAPLSPRTFHPLRSE     dbPAF
1053      RTFHPLRSEAYNTFS     dbPAF
1056      HPLRSEAYNTFSERR     dbPAF
1058      LRSEAYNTFSERRLK     dbPAF
1067      SERRLKHSLVLHKSN     dbPAF
1148      TSDPSHRSSSPELSE     dbPAF
Glycation
(count: 8)
(view all)
105       IKVHFKNKADKPLSI     PLMD
121       PQGIRYSKLSEGASY     PLMD
1801      LTSSEMKKSHEFHAI     PLMD
205       LTEGGTQKTFDKQIV     PLMD
2185      FEGNTNTKGHVKNFF     PLMD
389       NFSNQIGKHYKKVMY     PLMD

※ Protein-Protein Interaction

NetworkInteraction
ABSource