Sequence of PISD_HUMAN
EC Number:4.1.1.65
EC Number
Recommended Name
Accession Code
Organism
No of amino acids
Molecular Weight [Da]
Source
Reaction
phosphatidyl-L-serine = phosphatidylethanolamine + CO2
Other sequences found for EC No. 4.1.1.65
General information:
Sequence
0 MATSVGHRCL GLLHGVAPWR SSLHPCEITA LSQSLQPLRK LPFRAFRTDA RKIHTAPART
60 MFLLRPLPIL LVTGGGYAGY RQYEKYRERE LEKLGLEIPP KLAGHWEVAL YKSVPTRLLS
120 RAWGRLNQVE LPHWLRRPVY SLYIWTFGVN MKEAAVEDLH HYRNLSEFFR RKLKPQARPV
180 CGLHSVISPS DGRILNFGQV KNCEVEQVKG VTYSLESFLG PRMCTEDLPF PPAASCDSFK
240 NQLVTREGNE LYHCVIYLAP GDYHCFHSPT DWTVSHRRHF PGSLMSVNPG MARWIKELFC
300 HNERVVLTGD WKHGFFSLTA VGATNVGSIR IYFDRDLHTN SPRHSKGSYN DFSFVTHTNR
360 EGVPMRKGEH LGEFNLGSTI VLIFEAPKDF NFQLKTGQKI RFGEALGSL
Download this sequence
in fasta formatDownload all sequences for 4.1.1.65
in fasta format
in csv (Excel, OpenOffice) formatSequence related references
Sequence Reference
Authors
Title
Journal
Volume
Pages
Year
PubMed ID
75284
Collins J.E.,Wright C.L.,Edwards C.A.,Davis M.P.,Grinham J.A.,Cole C.G.,Goward M.E.,Aguado B.,Mallya M.,Mokrab Y.,Huckle E.J.,Beare D.M.,Dunham I.
A genome annotation-driven approach to cloning the human ORFeome.
Genome Biol.
5
0-0
2004
75285
Bechtel S.,Rosenfelder H.,Duda A.,Schmidt C.P.,Ernst U.,Wellenreuther R.,Mehrle A.,Schuster C.,Bahr A.,Bloecker H.,Heubner D.,Hoerlein A.,Michel G.,Wedler H.,Koehrer K.,Ottenwaelder B.,Poustka A.,Wiemann S.,Schupp I.
The full-ORF clone resource of the German cDNA consortium.
BMC Genomics
8
399-399
2007
75286
Dunham I.,Hunt A.R.,Collins J.E.,Bruskiewich R.,Beare D.M.,Clamp M.,Smink L.J.,Ainscough R.,Almeida J.P.,Babbage A.K.,Bagguley C.,Bailey J.,Barlow K.F.,Bates K.N.,Beasley O.P.,Bird C.P.,Blakey S.E.,Bridgeman A.M.,Buck D.,Burgess J.,Burrill W.D.,Burton J.,Carder C.,Carter N.P.,Chen Y.,Clark G.,Clegg S.M.,Cobley V.E.,Cole C.G.,Collier R.E.,Connor R.,Conroy D.,Corby N.R.,Coville G.J.,Cox A.V.,Davis J.,Dawson E.,Dhami P.D.,Dockree C.,Dodsworth S.J.,Durbin R.M.,Ellington A.G.,Evans K.L.,Fey J.M.,Fleming K.,French L.,Garner A.A.,Gilbert J.G.R.,Goward M.E.,Grafham D.V.,Griffiths M.N.D.,Hall C.,Hall R.E.,Hall-Tamlyn G.,Heathcott R.W.,Ho S.,Holmes S.,Hunt S.E.,Jones M.C.,Kershaw J.,Kimberley A.M.,King A.,Laird G.K.,Langford C.F.,Leversha M.A.,Lloyd C.,Lloyd D.M.,Martyn I.D.,Mashreghi-Mohammadi M.,Matthews L.H.,Mccann O.T.,Mcclay J.,Mclaren S.,McMurray A.A.,Milne S.A.,Mortimore B.J.,Odell C.N.,Pavitt R.,Pearce A.V.,Pearson D.,Phillimore B.J.C.T.,Phillips S.H.,Plumb R.W.,Ramsay H.,Ramsey Y.,Rogers L.,Ross M.T.,Scott C.E.,Sehra H.K.,Skuce C.D.,Smalley S.,Smith M.L.,Soderlund C.,Spragon L.,Steward C.A.,Sulston J.E.,Swann R.M.,Vaudin M.,Wall M.,Wallis J.M.,Whiteley M.N.,Willey D.L.,Williams L.,Williams S.A.,Williamson H.,Wilmer T.E.,Wilming L.,Wright C.L.,Hubbard T.,Bentley D.R.,Beck S.,Rogers J.,Shimizu N.,Minoshima S.,Kawasaki K.,Sasaki T.,Asakawa S.,Kudoh J.,Shintani A.,Shibuya K.,Yoshizaki Y.,Aoki N.,Mitsuyama S.,Roe B.A.,Chen F.,Chu L.,Crabtree J.,Deschamps S.,Do A.,Do T.,Dorman A.,Fang F.,Fu Y.,Hu P.,Hua A.,Kenton S.,Lai H.,Lao H.I.,Lewis J.,Lewis S.,Lin S.-P.,Loh P.,Malaj E.,Nguyen T.,Pan H.,Phan S.,Qi S.,Qian Y.,Ray L.,Ren Q.,Shaull S.,Sloan D.,Song L.,Wang Q.,Wang Y.,Wang Z.,White J.,Willingham D.,Wu H.,Yao Z.,Zhan M.,Zhang G.,Chissoe S.,Murray J.,Miller N.,Minx P.,Fulton R.,Johnson D.,Bemis G.,Bentley D.,Bradshaw H.,Bourne S.,Cordes M.,Du Z.,Fulton L.,Goela D.,Graves T.,Hawkins J.,Hinds K.,Kemp K.,Latreille P.,Layman D.,Ozersky P.,Rohlfing T.,Scheet P.,Walker C.,Wamsley A.,Wohldmann P.,Pepin K.,Nelson J.,Korf I.,Bedell J.A.,Hillier L.W.,Mardis E.,Waterston R.,Wilson R.,Emanuel B.S.,Shaikh T.,Kurahashi H.,Saitta S.,Budarf M.L.,McDermid H.E.,Johnson A.,Wong A.C.C.,Morrow B.E.,Edelmann L.,Kim U.J.,Shizuya H.,Simon M.I.,Dumanski J.P.,Peyrard M.,Kedra D.,Seroussi E.,Fransson I.,Tapia I.,Bruder C.E.,O'Brien K.P.,Wilkinson P.,Bodenteich A.,Hartman K.,Hu X.,Khan A.S.,Lane L.,Tilahun Y.,Wright H.
The DNA sequence of human chromosome 22.
Nature
402
489-495
1999
75288
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
Genome Res.
14
2121-2127
2004
75290
Peter V.G.,Quinodoz M.,Pinto-Basto J.,Sousa S.B.,Di Gioia S.A.,Soares G.,Ferraz Leal G.,Silva E.D.,Pescini Gobert R.,Miyake N.,Matsumoto N.,Engle E.C.,Unger S.,Shapiro F.,Superti-Furga A.,Rivolta C.,Campos-Xavier B.
The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in thePISD gene.
Genet. Med.
21
2734-2743
2019
75291
Girisha K.M.,von Elsner L.,Neethukrishna K.,Muranjan M.,Shukla A.,Bhavani G.S.,Nishimura G.,Kutsche K.,Mortier G.
The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function.
Hum. Mutat.
40
299-309
2019
75292
Zhao T.,Goedhart C.M.,Sam P.N.,Sabouny R.,Lingrell S.,Cornish A.J.,Lamont R.E.,Bernier F.P.,Sinasac D.,Parboosingh J.S.,Vance J.E.,Claypool S.M.,Innes A.M.,Shutt T.E.
PISD is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes.
Life. Sci Alliance
2
0-0
2019
