Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.
| RefSeq Version | NM_000508.3, 70906432 |
| Length | 3655 bp |
| Structure | linear |
| Update Date | 17-APR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA. |
| Product | fibrinogen alpha chain isoform alpha-E preproprotein |
| Comment | Summary: The protein encoded by this gene is the alpha component of fibrinogen, a blood-borne glycoprotein comprised of three pairs of nonidentical polypeptide chains. Following vascular injury, fibrinogen is cleaved by thrombin to form fibrin which is the most abundant component of blood clots. In addition, various cleavage products of fibrinogen and fibrin regulate cell adhesion and spreading, display vasoconstrictor and chemotactic activities, and are mitogens for several cell types. Mutations in this gene lead to several disorders, including dysfibrinogenemia, hypofibrinogenemia, afibrinogenemia and renal amyloidosis. Alternative splicing results in two isoforms which vary in the carboxy-terminus. [provided by RefSeq]. Transcript Variant: This variant (alpha-E) represents the longer transcript and encodes the longer isoform (alpha-E). |
| RefSeq | NP_000499.1 |
| CDS | 59..2659 | Exon (1) | 1..112 | Exon (2) | 1..112 | Exon (3) | 113..238 | Exon (4) | 239..422 | Exon (5) | 423..568 | Exon (6) | 569..1949 | Exon (7) | 1950..3655 |
| Translation | MFSMRIVCLVLSVVGTAWTADSGEGDFLAEGGGVRGPRVVERHQSACKDSDWPFCSDEDW
NYKCPSGCRMKGLIDEVNQDFTNRINKLKNSLFEYQKNNKDSHSLTTNIMEILRGDFSSA
NNRDNTYNRVSEDLRSRIEVLKRKVIEKVQHIQLLQKNVRAQLVDMKRLEVDIDIKIRSC
RGSCSRALAREVDLKDYEDQQKQLEQVIAKDLLPSRDRQHLPLIKMKPVPDLVPGNFKSQ
LQKVPPEWKALTDMPQMRMELERPGGNEITRGGSTSYGTGSETESPRNPSSAGSWNSGSS
GPGSTGNRNPGSSGTGGTATWKPGSSGPGSTGSWNSGSSGTGSTGNQNPGSPRPGSTGTW
NPGSSERGSAGHWTSESSVSGSTGQWHSESGSFRPDSPGSGNARPNNPDWGTFEEVSGNV
SPGTRREYHTEKLVTSKGDKELRTGKEKVTSGSTTTTRRSCSKTVTKTVIGPDGHKEVTK
EVVTSEDGSDCPEAMDLGTLSGIGTLDGFRHRHPDEAAFFDTASTGKTFPGFFSPMLGEF
VSETESRGSESGIFTNTKESSSHHPGIAEFPSRGKSSSYSKQFTSSTSYNRGDSTFESKS
YKMADEAGSEADHEGTHSTKRGHAKSRPVRDCDDVLQTHPSGTQSGIFNIKLPGSSKIFS
VYCDQETSLGGWLLIQQRMDGSLNFNRTWQDYKRGFGSLNDEGEGEFWLGNDYLHLLTQR
GSVLRVELEDWAGNEAYAEYHFRVGSEAEGYALQVSSYEGTAGDALIEGSVEEGAEYTSH
NNMQFSTFDRDADQWEENCAEVYGGGWWYNNCQAANLNGIYYPGGSYDPRNNSPYEIENG
VVWVSFRGADYSLRAVRMKIRPLVTQ
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| Position | Chain | Variation | Link |
| 1 | + | a, g | dbSNP:2070011 |
| 74 | + | a, g | dbSNP:2070025 |
| 134 | + | a, g | dbSNP:121909604 |
| 150 | + | g, t | dbSNP:121909605 |
| 161 | + | c, t | dbSNP:121909606 |
| 162 | + | a, g | dbSNP:121909607 |
| 168 | + | c, t | dbSNP:121909609 |
| 170 | + | a, g | dbSNP:121909608 |
| 174 | + | a, t | dbSNP:121909614 |
| complement(262) | - | g, a | dbSNP:111594488 |
| 321 | + | a, t | dbSNP:77531839 |
| complement(358) | - | t, c | dbSNP:112877216 |
| complement(688..689) | - | , c | dbSNP:35592174 |
| complement(883) | - | g, a | dbSNP:71605213 |
| complement(1002) | - | g, a | dbSNP:117761234 |
| 1049 | + | a, g | dbSNP:6050 |
| 1097 | + | c, t | dbSNP:121909615 |
| 1129 | + | c, t | dbSNP:6051 |
| complement(1207..1208) | - | , c | dbSNP:35633886 |
| 1234 | + | a, t | dbSNP:10921 |
| complement(1257) | - | g, a | dbSNP:116963264 |
| 1394 | + | a, g | dbSNP:6052 |
| 1416 | + | a, g | dbSNP:121909610 |
| 1424 | + | a, g | dbSNP:2070031 |
| 1496 | + | a, t | dbSNP:121909611 |
| 1577 | + | a, g | dbSNP:11553775 |
| 1600 | + | c, t | dbSNP:4766 |
| 1692 | + | a, t | dbSNP:121909612 |
| 1775 | + | c, t | dbSNP:121909613 |
| 1776 | + | a, g, t | dbSNP:78506343 |
| complement(1879) | - | g, a | dbSNP:75588936 |
| complement(2105) | - | g, a | dbSNP:34985782 |
| complement(2243) | - | g, c | dbSNP:61731299 |
| 2644 | + | c, t | dbSNP:2070033 |
| complement(2663) | - | c, a | dbSNP:118087909 |
| complement(2664..2665) | - | , gaagacagagtgctcccattcccacttc | dbSNP:35496957 |
| 2987 | + | c, t | dbSNP:2070022 |
| 3441 | + | c, t | dbSNP:2070034 |
| Gene Symbol | FGA |
| Gene Synonym | Fib2; MGC119422; MGC119423; MGC119425 |
| Chromosome | 4 |
| Locus Map | 4q28 |
| All Transcripts | NM_000508 , NM_021871 |
| Title | Dissociation of bimolecular alphaIIbbeta3-fibrinogen complex under a constant tensile force . |
| Author | Litvinov,R.I., Barsegov,V., Schissler,A.J., Fisher,A.R., Bennett,J.S., Weisel,J.W. and Shuman,H. |
| Journal | Biophys. J. 100 (1), 165-173 (2011) |
| Title | Hypodysfibrinogenaemia due to production of mutant fibrinogen alpha-chains lacking fibrinopeptide A and polymerisation knob 'A' . |
| Author | Vorjohann,S., Fish,R.J., Biron-Andreani,C., Nagaswami,C., Weisel,J.W., Boulot,P., Reyftmann,L., de Moerloose,P. and Neerman-Arbez,M. |
| Journal | Thromb. Haemost. 104 (5), 990-997 (2010) |
| Title | Dysfibrinogenemia in childhood: two cases of congenital dysfibrinogens . |
| Author | Kotlin,R., Blazek,B., Suttnar,J., Maly,M., Kvasnicka,J. and Dyr,J.E. |
| Journal | Blood Coagul. Fibrinolysis 21 (7), 640-648 (2010) |
| Title | The fibrinogen gamma 10034C>T polymorphism is not associated with Peripheral Arterial Disease . |
| Author | Bahadori,B., Uitz,E., Dehchamani,D., Pilger,E. and Renner,W. |
| Journal | Thromb. Res. 126 (4), 350-352 (2010) |
| Title | Raised D-dimer levels in acute sickle cell crisis and their correlation with chest X-ray abnormalities . |
| Author | Dar,J., Mughal,I., Hassan,H., Al Mekki,T.E., Chapunduka,Z. and Hassan,I.S. |
| Journal | Ger Med Sci 8, DOC25 (2010) |
| Title | Fibrinogen Marburg: a homozygous case of dysfibrinogenemia, lacking amino acids A alpha 461-610 (Lys 461 AAA-->stop TAA) . |
| Author | Koopman,J., Haverkate,F., Grimbergen,J., Egbring,R. and Lord,S.T. |
| Journal | Blood 80 (8), 1972-1979 (1992) |
| Title | Amino acid sequence studies on the alpha chain of human fibrinogen. Overlapping sequences providing the complete sequence . |
| Author | Watt,K.W., Cottrell,B.A., Strong,D.D. and Doolittle,R.F. |
| Journal | Biochemistry 18 (24), 5410-5416 (1979) |
| Title | Amino acid sequence studies on the alpha chain of human fibrinogen. Exact location of cross-linking acceptor sites . |
| Author | Cottrell,B.A., Strong,D.D., Watt,K.W. and Doolittle,R.F. |
| Journal | Biochemistry 18 (24), 5405-5410 (1979) |
| Title | Localization of the alpha-chain cross-link acceptor sites of human fibrin . |
| Author | Fretto,L.J., Ferguson,E.W., Steinman,H.M. and McKee,P.A. |
| Journal | J. Biol. Chem. 253 (7), 2184-2195 (1978) |
| Title | Disulfide bridges in nh2 -terminal part of human fibrinogen . |
| Author | Blomback,B., Hessel,B. and Hogg,D. |
| Journal | Thromb. Res. 8 (5), 639-658 (1976) |
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