Table I.
List of putative human gene targets of POFUT1
| Name and UNIPROT ID | Consensus/total | Known human pathology (if any) |
|---|---|---|
| AGRIN (O00468) | 2/4 | Myasthenia, limb-girdle, familial (Huze et al. 2009; Maselli et al. 2012) |
| ATRAID (Q6UW56) | 1/1 | --- |
| CD93 (Q9NYP3) | 1/5 | --- |
| CD97 (P48960) | 1/5 | --- |
| CELSR1 (Q9NYQ6) | 2/8 | Neural tube defects (Robinson et al. 2012) |
| CELSR2 (Q9HCU4) | 2/7 | --- |
| CELSR3 (Q9NYQ7) | 2/8 | --- |
| CFC1 (P0CG37) | 1/1 | Heterotaxy, visceral, 2, autosoma; transposition of the great arteries dextro-looped 2; Conotruncal heart malformations (Bamford et al. 2000; Goldmuntz et al. 2002) |
| CFC1B (P0CG36) | 1/1 | --- |
| CNTNAP5 (Q8WYK1) | 1/2 | --- |
| CRB1 (P82279) | 8/19 | Retinitis pigmentosa 12; Leber congenital amaurosis 8; Pigmented paravenouschorioretinal atrophy (den Hollander et al. 1999, 2001; McKay et al. 2005) |
| CRB2 (Q5IJ48) | 8/15 | --- |
| CSPG2 (P13611) | 2/2 | Wagner vitreoretinopathy (Miyamoto et al. 2005; Kloeckener-Gruissem et al. 2013) |
| CUBN (O60494) | 4/7 | Recessive hereditary megaloblastic anemia 1 (Aminoff et al. 1999; Kristiansen et al. 2000) |
| DLK1 (P80370) | 3/6 | --- |
| DLK2 (Q6UY11) | 1/6 | --- |
| DLL1 (O00548) | 4/8 | --- |
| DLL3 (Q9NYJ7) | 2/6 | Spondylocostaldysostosis 1, autosomal recessive (Bulman et al. 2000) |
| DLL4 (Q9NR61) | 5/8 | --- |
| DNER (Q8NFT8) | 6/10 | --- |
| EDIL3 (O43854) | 1/3 | --- |
| EGF (P01133) | 1/9 | Hypomagnesemia 4 (Groenestege et al. 2007) |
| EGFL7 (Q9UHF1) | 1/2 | --- |
| EGFLAM (Q63HQ2) | 2/3 | --- |
| EMR1 (Q14246) | 4/6 | --- |
| EMR2 (Q9UHX3) | 1/5 | --- |
| EYS (Q5T1H1) | 11/27 | Retinitis pigmentosa 25 (Abd El-Aziz et al. 2008; Collin et al. 2008; Audo et al. 2010; Huang et al. 2010) |
| F7 (P08709) | 1/2 | Factor VII deficiency (O'Brien et al. 1991; Bernardi et al. 1994; Leonard et al. 1998; Girelli et al. 2000; Landau et al. 2009; Jiang et al. 2011) |
| F9 (P00740) | 1/2 | Hemophilia B; Thrombophilia, X-linked, due to factor IX defect (Green et al. 1989; Suehiro et al. 1989; de la Salle et al. 1993; Simioni et al. 2009) |
| F12 (P00748) | 1/2 | Factor XII deficiency; Hereditary angioedema 3 (Bernardi et al. 1987; Schloesser et al. 1995; Cichon et al. 2006; Dewald and Bork 2006) |
| FAT1 (Q14517) | 2/5 | --- |
| FAT2 (Q9NYQ8) | 1/2 | --- |
| FAT3 (Q8TDW7) | 3/4 | --- |
| FAT4 (Q6V0I7) | 5/6 | Van Maldergem syndrome 2 (Cappello et al. 2013) |
| FBLN1 (P23142) | 1/9 | Complex type of synpolydactyly; associated with human breast cancer (Debeer et al. 2002; Greene et al. 2003) |
| FBLN7 (Q53RD9) | 1/3 | --- |
| FBN2 (P35556) | 1/47 | Arthrogryposis, distal 9 (Putnam et al. 1995; Babcock et al. 1998; Park et al. 1998; Belleh et al. 2000; Gupta et al. 2002; Callewaert et al. 2009) |
| FBN3 (Q75N90) | 1/44 | --- |
| HABP2 (Q14520) | 1/3 | --- |
| HGFAC (Q04756) | 2/2 | --- |
| JAG1 (P78504) | 11/16 | Alagille syndrome 1; Tetralogy of Fallot (Oda et al. 1997; Krantz et al. 1998; Eldadah et al. 2001) |
| JAG2 (Q9Y219) | 9/16 | --- |
| LRP1 (Q07954) | 5/22 | --- |
| LRP1B (Q9NZR2) | 4/14 | --- |
| LTBP2 (Q14767) | 1/20 | Glaucoma 3, primary congenital, D; Microspherophakia and/or megalocornea, with ectopialentis and with or without secondary glaucoma; Weill-Marchesani syndrome 3 (Ali et al. 2009; Kumar et al. 2010; Haji-Seyed-Javadi et al. 2012) |
| MEGF6 (O75095) | 1/27 | --- |
| MEGF8 (Q7Z7M0) | 2/5 | Carpenter syndrome 2 (Twigg et al. 2012) |
| MEGF10 (Q96KG7) | 2/15 | Myopathy, early-onset, areflexia, respiratory distress, and dysphagia (Logan et al. 2011; Boyden et al. 2012) |
| MEGF11 (A6BM72) | 2/14 | --- |
| MMRN1 (Q13201) | 1/1 | Factor V Quebec (Hayward et al. 1996) |
| NCAN (O14594) | 2/2 | --- |
| NELL1 (Q92832) | 1/5 | --- |
| NID2 (Q14112) | 1/5 | --- |
| NOTCH1 (P46531) | 20/36 | Aortic valve disease 1 (Garg et al. 2005) |
| NOTCH2 (Q04721) | 20/36 | Alagille syndrome 2; Hajdu-Cheney syndrome (McDaniell et al. 2006; Isidor et al. 2011; Simpson et al. 2011) |
| NOTCH2NL (Q7Z3S9) | 5/6 | --- |
| NOTCH3 (Q9UM47) | 14/34 | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy; Myofibromatosis, infantile 2 (Joutel et al. 1997; Dichgans et al. 1999; Fouillade et al. 2008; Martignetti et al. 2013) |
| NOTCH4 (Q99466) | 18/29 | --- |
| PAMR1 (Q6UXH9) | 1/1 | --- |
| PEAR1 (Q5VY43) | 1/9 | --- |
| PGBM (P98160) | 3/4 | Schwartz-Jampel syndrome; Dyssegmental dysplasia Silverman-Handmaker type (Nicole et al. 2000; Arikawa-Hirasawa et al. 2001) |
| PGCB (Q96GW7) | 1/1 | --- |
| PROC (P04070) | 1/2 | Thrombophilia due to protein C deficiency, autosomal dominant and autosomal recessive (Romeo et al. 1987; Miyata et al. 1995; Couture et al. 1998) |
| PROZ (P22891) | 1/2 | --- |
| RELN (P78509) | 2/8 | Lissencephaly 2 (Hong et al. 2000) |
| SLIT1 (O75093) | 2/9 | --- |
| SLIT2 (O94813) | 3/7 | --- |
| SLIT3 (O75094) | 3/9 | --- |
| SNED1 (Q8TER0) | 10/15 | --- |
| SREC2 (Q96GP6) | 1/7 | Van den Ende-Gupta syndrome (Anastasio et al. 2010) |
| STAB1 (Q9NY15) | 3/16 | --- |
| STAB2 (Q8WWQ8) | 6/17 | --- |
| SUSD1 (Q6UWL2) | 2/3 | --- |
| SVEP1 (Q4LDE5) | 4/9 | --- |
| TEN1 (Q9UKZ4) | 1/8 | --- |
| TEN2 (Q9NT68) | 2/8 | --- |
| TEN4 (Q6N022) | 2/8 | --- |
| TIE1 (P35590) | 1/3 | --- |
| TPA (P00750) | 1/1 | Increased activity results in excessive bleeding; Defective release results in thrombosis or embolism (Degen et al. 1986). |
| TSP3 (P49746) | 1/3 | --- |
| UMOD (P07911) | 3/3 | Familial juvenile hyperuricemic nephropathy 1; Medullary cystic kidney disease 2; Glomerulocystic kidney disease with hyperuricemia and isosthenuria (Hart et al. 2002; Rampoldi et al. 2003) |
| UMODL1 (Q5DID0) | 1/3 | --- |
| UROK (P00749) | 1/1 | Quebec platelet disorder (Paterson et al. 2010) |
| VASN (Q6EMK4) | 1/1 | --- |
| VWA2 (Q5GFL6) | 2/2 | --- |
| VWDE (Q8N2E2) | 3/7 | --- |
| WIF1 (Q9Y5W5) | 2/5 | --- |
Potential targets of POFUT1 are listed based on a ScanProsite database search of all human proteins containing EGF repeats that contain the C2XXXX(S/T)C3 consensus sequence for O-fucosylation cross-referenced with the Uniprot database. Splice variants were not considered. The number of EGF repeats containing the consensus sequence/total number of EGF domains is listed, as well as any known human pathologies associated with the putative targets. Confirmed POFUT1 targets are listed in boldface.