human-SERAC1

Homo sapiens (Human) Protein SERAC1

Comment

Serine active site-containing protein 1. Mutations of SERAC1 causes MEGDEL syndrome, a recessive disorder of dystonia and deafness with encephalopathy and Leigh-like syndrome, impaired oxidative phosphorylation and 3-methylglutaconic aciduria. Clinical features included psychomotor retardation, recurrent infections in infancy, hypoglycemia, spasticity, dystonia, sensorineural deafness, brain atrophy, and lesions on brain imaging. Laboratory studies showed increased serum lactate and alanine, urinary 3-MGA, mitochondrial oxidative phosphorylation defects, abnormal mitochondria, an abnormal phosphatidylglycerol and cardiolipin spectrum in fibroblasts, and abnormal accumulation of unesterified cholesterol within cells. old human-srac1.Only c-term PfamA PGAP1 390-549

Relationship

Family : PGAP1

Block : X

Position in NCBI Life Tree : Homo sapiens

(Below N is a link to NCBI taxonomic web page and E link to ESTHER at designed phylum.)

> cellular organisms N E > Eukaryota N E > Opisthokonta N E > Metazoa N E > Eumetazoa N E > Bilateria N E > Deuterostomia N E > Chordata N E > Craniata N E > Vertebrata N E > Gnathostomata N E > Teleostomi N E > Euteleostomi N E > Sarcopterygii N E > Dipnotetrapodomorpha N E > Tetrapoda N E > Amniota N E > Mammalia N E > Theria N E > Eutheria N E > Boreoeutheria N E > Euarchontoglires N E > Primates N E > Haplorrhini N E > Simiiformes N E > Catarrhini N E > Hominoidea N E > Hominidae N E > Homininae N E > Homo N E > Homo sapiens N E

Molecular evidence

No mutation

No structure

No kinetic

No substrate

No inhibitor

Database

Sequence

Peptide

ADVLFIHGLM GAAFKTWRQQ DSEQAVIEKP MEDEDRYTTC WPKTWLAKDC PALRIISVEY DTSLSDWRAR CPMERKSIAF RSNELLRKLR AAGVGDRPVV WISHSMGGLL VKKMLLEAST KPEMSTVINN TRGIIFYSVP HHGSRLAEYS VNIRYLLFPS LEVKELSKDS PALKTLQDDF LEFAKDKNFQ VLNFVETLPT YIGSMIKLHV VPVESADLGI GDLIPVDVNH LNICKPKKKD AFLYQRTLQF IREALAKDLE N

References (23)

Title : A novel mutation in the SERAC1 gene correlates with the severe manifestation of the MEGDEL phenotype, as revealed by whole-exome sequencing - Alagoz_2020_Exp.Ther.Med_19_3505
Author(s) : Alagoz M , Kherad N , Turkmen S , Bulut H , Yuksel A
Ref : Exp Ther Med , 19 :3505 , 2020
PubMedID: 32346411
Gene_locus related to this paper: human-SERAC1

Title : SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family - Roeben_2018_J.Med.Genet_55_39
Author(s) : Roeben B , Schule R , Ruf S , Bender B , Alhaddad B , Benkert T , Meitinger T , Reich S , Bohringer J , Langhans CD , Vaz FM , Wortmann SB , Marquardt T , Haack TB , Krageloh-Mann I , Schols L , Synofzik M
Ref : Journal of Medical Genetics , 55 :39 , 2018
PubMedID: 28916646
Gene_locus related to this paper: human-SERAC1

Title : Novel mutations in SERAC1 gene in two Indian patients presenting with dystonia and intellectual disability - Radha Rama Devi_2018_Eur.J.Med.Genet_61_100
Author(s) : Radha Rama Devi A , Lingappa L
Ref : Eur Journal of Medical Genetics , 61 :100 , 2018
PubMedID: 28778788
Gene_locus related to this paper: human-SERAC1

Title : Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing - Theunissen_2017_J.Pediatr_182_371
Author(s) : Theunissen TE , Sallevelt SC , Hellebrekers DM , de Koning B , Hendrickx AT , van den Bosch BJ , Kamps R , Schoonderwoerd K , Szklarczyk R , Mulder-Den Hartog EN , de Coo IF , Smeets HJ
Ref : J Pediatr , 182 :371 , 2017
PubMedID: 28081892
Gene_locus related to this paper: human-SERAC1

Title : MEGDEL Syndrome: Expanding the Phenotype and New Mutations -
Author(s) : Sequeira S , Rodrigues M , Jacinto S , Wevers RA , Wortmann SB
Ref : Neuropediatrics , 48 :382 , 2017
PubMedID: 28505671
Gene_locus related to this paper: human-SERAC1

Title : [MEGDEL syndrome with an SERAC1 mutation: a case report] -
Author(s) : Chen J , Peng J , Yin F
Ref : Zhonghua Er Ke Za Zhi , 55 :394 , 2017
PubMedID: 28482397
Gene_locus related to this paper: human-SERAC1

Title : Transient neonatal renal failure and massive polyuria in MEGDEL syndrome - Harbulot_2016_Mol.Genet.Metab.Rep_7_8
Author(s) : Harbulot C , Paquay S , Dorboz I , Pichard S , Bourillon A , Benoist JF , Jardel C , Ogier de Baulny H , Boespflug-Tanguy O , Schiff M
Ref : Mol Genet Metab Rep , 7 :8 , 2016
PubMedID: 27331002
Gene_locus related to this paper: human-SERAC1

Title : First missense mutation outside of SERAC1 lipase domain affecting intracellular cholesterol trafficking - Rodriguez-Garcia_2016_Neurogenetics_17_51
Author(s) : Rodriguez-Garcia ME , Martin-Hernandez E , de Aragon AM , Garcia-Silva MT , Quijada-Fraile P , Arenas J , Martin MA , Martinez-Azorin F
Ref : Neurogenetics , 17 :51 , 2016
PubMedID: 26445863
Gene_locus related to this paper: human-SERAC1

Title : New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre - Pronicka_2016_J.Transl.Med_14_174
Author(s) : Pronicka E , Piekutowska-Abramczuk D , Ciara E , Trubicka J , Rokicki D , Karkucinska-Wieckowska A , Pajdowska M , Jurkiewicz E , Halat P , Kosinska J , Pollak A , Rydzanicz M , Stawinski P , Pronicki M , Krajewska-Walasek M , Ploski R
Ref : J Transl Med , 14 :174 , 2016
PubMedID: 27290639
Gene_locus related to this paper: human-SERAC1

Title : The clinical syndrome of dystonia with anarthria\/aphonia - Ganos_2016_Parkinsonism.Relat.Disord_24_20
Author(s) : Ganos C , Crowe B , Stamelou M , Kresojevic N , Lukic MJ , Bras J , Guerreiro R , Taiwo F , Balint B , Batla A , Schneider SA , Erro R , Svetel M , Kostic V , Kurian MA , Bhatia KP
Ref : Parkinsonism Relat Disord , 24 :20 , 2016
PubMedID: 26924602
Gene_locus related to this paper: human-SERAC1

Title : Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome - Wortmann_2015_Neuropediatrics_46_98
Author(s) : Wortmann SB , van Hasselt PM , Baric I , Burlina A , Darin N , Horster F , Coker M , Ucar SK , Krumina Z , Naess K , Ngu LH , Pronicka E , Riordan G , Santer R , Wassmer E , Zschocke J , Schiff M , de Meirleir L , Alowain MA , Smeitink JA , Morava E , Kozicz T , Wevers RA , Wolf NI , Willemsen MA
Ref : Neuropediatrics , 46 :98 , 2015
PubMedID: 25642805
Gene_locus related to this paper: human-SERAC1

Title : MEGDEL Syndrome in a Child From Palestine: Report of a Novel Mutation in SERAC1 Gene - Dweikat_2015_J.Child.Neurol_30_1053
Author(s) : Dweikat IM , Abdelrazeq S , Ayesh S , Jundi T
Ref : Journal of Child Neurology , 30 :1053 , 2015
PubMedID: 25051967
Gene_locus related to this paper: human-SERAC1

Title : Tubular aggregates caused by serine active site containing 1 (SERAC1) mutations in a patient with a mitochondrial encephalopathy -
Author(s) : Wedatilake Y , Plagnol V , Anderson G , Paine SM , Clayton PT , Jacques TS , Rahman S
Ref : Neuropathol Appl Neurobiol , 41 :399 , 2015
PubMedID: 25345337
Gene_locus related to this paper: human-SERAC1

Title : Two Turkish siblings with MEGDEL syndrome due to novel SERAC1 gene mutation - Unal_2015_Turk.J.Pediatr_57_388
Author(s) : Unal O , Ozgul RK , Yucel D , Yalnizoglu D , Tokatli A , Sivri HS , Hismi B , Coskun T , Dursun A
Ref : Turk J Pediatr , 57 :388 , 2015
PubMedID: 27186703
Gene_locus related to this paper: human-SERAC1

Title : The Expanding MEGDEL Phenotype: Optic Nerve Atrophy, Microcephaly, and Myoclonic Epilepsy in a Child with SERAC1 Mutations - Lumish_2014_JIMD.Rep_16_75
Author(s) : Lumish HS , Yang Y , Xia F , Wilson A , Chung WK
Ref : JIMD Rep , 16 :75 , 2014
PubMedID: 24997715
Gene_locus related to this paper: human-SERAC1

Title : Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria - Tort_2013_Mol.Genet.Metab_110_73
Author(s) : Tort F , Garcia-Silva MT , Ferrer-Cortes X , Navarro-Sastre A , Garcia-Villoria J , Coll MJ , Vidal E , Jimenez-Almazan J , Dopazo J , Briones P , Elpeleg O , Ribes A
Ref : Mol Genet Metab , 110 :73 , 2013
PubMedID: 23707711
Gene_locus related to this paper: human-SERAC1

Title : Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature - Wortmann_2013_J.Inherit.Metab.Dis_36_923
Author(s) : Wortmann SB , Duran M , Anikster Y , Barth PG , Sperl W , Zschocke J , Morava E , Wevers RA
Ref : J Inherit Metab Dis , 36 :923 , 2013
PubMedID: 23296368
Gene_locus related to this paper: human-SERAC1

Title : Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome) caused by novel mutations in SERAC1 - Sarig_2013_Am.J.Med.Genet.A_161A_2204
Author(s) : Sarig O , Goldsher D , Nousbeck J , Fuchs-Telem D , Cohen-Katsenelson K , Iancu TC , Manov I , Saada A , Sprecher E , Mandel H
Ref : American Journal of Medicine Genet A , 161A :2204 , 2013
PubMedID: 23918762
Gene_locus related to this paper: human-SERAC1

Title : Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness - Wortmann_2012_Nat.Genet_44_797
Author(s) : Wortmann SB , Vaz FM , Gardeitchik T , Vissers LE , Renkema GH , Schuurs-Hoeijmakers JH , Kulik W , Lammens M , Christin C , Kluijtmans LA , Rodenburg RJ , Nijtmans LG , Grunewald A , Klein C , Gerhold JM , Kozicz T , van Hasselt PM , Harakalova M , Kloosterman W , Baric I , Pronicka E , Ucar SK , Naess K , Singhal KK , Krumina Z , Gilissen C , van Bokhoven H , Veltman JA , Smeitink JA , Lefeber DJ , Spelbrink JN , Wevers RA , Morava E , de Brouwer AP
Ref : Nat Genet , 44 :797 , 2012
PubMedID: 22683713
Gene_locus related to this paper: human-SERAC1

Title : Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation - Wortmann_2006_Mol.Genet.Metab_88_47
Author(s) : Wortmann S , Rodenburg RJ , Huizing M , Loupatty FJ , de Koning T , Kluijtmans LA , Engelke U , Wevers R , Smeitink JA , Morava E
Ref : Mol Genet Metab , 88 :47 , 2006
PubMedID: 16527507
Gene_locus related to this paper: human-SERAC1

Title : The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC) - Gerhard_2004_Genome.Res_14_2121
Author(s) : Gerhard DS , Wagner L , Feingold EA , Shenmen CM , Grouse LH , Schuler G , Klein SL , Old S , Rasooly R , Good P , Guyer M , Peck AM , Derge JG , Lipman D , Collins FS , Jang W , Sherry S , Feolo M , Misquitta L , Lee E , Rotmistrovsky K , Greenhut SF , Schaefer CF , Buetow K , Bonner TI , Haussler D , Kent J , Kiekhaus M , Furey T , Brent M , Prange C , Schreiber K , Shapiro N , Bhat NK , Hopkins RF , Hsie F , Driscoll T , Soares MB , Casavant TL , Scheetz TE , Brown-stein MJ , Usdin TB , Toshiyuki S , Carninci P , Piao Y , Dudekula DB , Ko MS , Kawakami K , Suzuki Y , Sugano S , Gruber CE , Smith MR , Simmons B , Moore T , Waterman R , Johnson SL , Ruan Y , Wei CL , Mathavan S , Gunaratne PH , Wu J , Garcia AM , Hulyk SW , Fuh E , Yuan Y , Sneed A , Kowis C , Hodgson A , Muzny DM , McPherson J , Gibbs RA , Fahey J , Helton E , Ketteman M , Madan A , Rodrigues S , Sanchez A , Whiting M , Madari A , Young AC , Wetherby KD , Granite SJ , Kwong PN , Brinkley CP , Pearson RL , Bouffard GG , Blakesly RW , Green ED , Dickson MC , Rodriguez AC , Grimwood J , Schmutz J , Myers RM , Butterfield YS , Griffith M , Griffith OL , Krzywinski MI , Liao N , Morin R , Palmquist D , Petrescu AS , Skalska U , Smailus DE , Stott JM , Schnerch A , Schein JE , Jones SJ , Holt RA , Baross A , Marra MA , Clifton S , Makowski KA , Bosak S , Malek J
Ref : Genome Res , 14 :2121 , 2004
PubMedID: 15489334
Gene_locus related to this paper: human-AFMID , human-CES4A , human-CES5A , human-NOTUM , human-SERAC1 , human-SERHL2 , human-TMEM53 , mouse-acot1 , mouse-adcl4 , mouse-Ces2f , mouse-Ces4a , mouse-notum , mouse-q6wqj1 , mouse-Q9DAI6 , mouse-rbbp9 , mouse-SERHL , mouse-srac1 , mouse-tmm53 , rat-abhd6 , rat-abhda , rat-abhea , rat-abheb , rat-Ldah , rat-cd029 , rat-estd , rat-Kansl3 , rat-nceh1 , ratno-acph , ratno-CMBL , mouse-b2rwd2 , rat-b5den3 , rat-ab17c

Title : Complete sequencing and characterization of 21,243 full-length human cDNAs - Ota_2004_Nat.Genet_36_40
Author(s) : Ota T , Suzuki Y , Nishikawa T , Otsuki T , Sugiyama T , Irie R , Wakamatsu A , Hayashi K , Sato H , Nagai K , Kimura K , Makita H , Sekine M , Obayashi M , Nishi T , Shibahara T , Tanaka T , Ishii S , Yamamoto J , Saito K , Kawai Y , Isono Y , Nakamura Y , Nagahari K , Murakami K , Yasuda T , Iwayanagi T , Wagatsuma M , Shiratori A , Sudo H , Hosoiri T , Kaku Y , Kodaira H , Kondo H , Sugawara M , Takahashi M , Kanda K , Yokoi T , Furuya T , Kikkawa E , Omura Y , Abe K , Kamihara K , Katsuta N , Sato K , Tanikawa M , Yamazaki M , Ninomiya K , Ishibashi T , Yamashita H , Murakawa K , Fujimori K , Tanai H , Kimata M , Watanabe M , Hiraoka S , Chiba Y , Ishida S , Ono Y , Takiguchi S , Watanabe S , Yosida M , Hotuta T , Kusano J , Kanehori K , Takahashi-Fujii A , Hara H , Tanase TO , Nomura Y , Togiya S , Komai F , Hara R , Takeuchi K , Arita M , Imose N , Musashino K , Yuuki H , Oshima A , Sasaki N , Aotsuka S , Yoshikawa Y , Matsunawa H , Ichihara T , Shiohata N , Sano S , Moriya S , Momiyama H , Satoh N , Takami S , Terashima Y , Suzuki O , Nakagawa S , Senoh A , Mizoguchi H , Goto Y , Shimizu F , Wakebe H , Hishigaki H , Watanabe T , Sugiyama A , Takemoto M , Kawakami B , Watanabe K , Kumagai A , Itakura S , Fukuzumi Y , Fujimori Y , Komiyama M , Tashiro H , Tanigami A , Fujiwara T , Ono T , Yamada K , Fujii Y , Ozaki K , Hirao M , Ohmori Y , Kawabata A , Hikiji T , Kobatake N , Inagaki H , Ikema Y , Okamoto S , Okitani R , Kawakami T , Noguchi S , Itoh T , Shigeta K , Senba T , Matsumura K , Nakajima Y , Mizuno T , Morinaga M , Sasaki M , Togashi T , Oyama M , Hata H , Komatsu T , Mizushima-Sugano J , Satoh T , Shirai Y , Takahashi Y , Nakagawa K , Okumura K , Nagase T , Nomura N , Kikuchi H , Masuho Y , Yamashita R , Nakai K , Yada T , Ohara O , Isogai T , Sugano S
Ref : Nat Genet , 36 :40 , 2004
PubMedID: 14702039
Gene_locus related to this paper: human-ABHD1 , human-ABHD4 , human-ABHD12 , human-ABHD16A , human-ACOT1 , human-LDAH , human-ABHD18 , human-CES1 , human-CES4A , human-CES5A , human-CPVL , human-DAGLB , human-EPHX2 , human-KANSL3 , human-LIPA , human-LPL , human-MEST , human-NDRG1 , human-NLGN1 , human-NLGN4X , human-PRCP , human-PRSS16 , human-SERAC1 , human-TMEM53

Title : The DNA sequence and analysis of human chromosome 6 - Mungall_2003_Nature_425_805
Author(s) : Mungall AJ , Palmer SA , Sims SK , Edwards CA , Ashurst JL , Wilming L , Jones MC , Horton R , Hunt SE , Scott CE , Gilbert JG , Clamp ME , Bethel G , Milne S , Ainscough R , Almeida JP , Ambrose KD , Andrews TD , Ashwell RI , Babbage AK , Bagguley CL , Bailey J , Banerjee R , Barker DJ , Barlow KF , Bates K , Beare DM , Beasley H , Beasley O , Bird CP , Blakey S , Bray-Allen S , Brook J , Brown AJ , Brown JY , Burford DC , Burrill W , Burton J , Carder C , Carter NP , Chapman JC , Clark SY , Clark G , Clee CM , Clegg S , Cobley V , Collier RE , Collins JE , Colman LK , Corby NR , Coville GJ , Culley KM , Dhami P , Davies J , Dunn M , Earthrowl ME , Ellington AE , Evans KA , Faulkner L , Francis MD , Frankish A , Frankland J , French L , Garner P , Garnett J , Ghori MJ , Gilby LM , Gillson CJ , Glithero RJ , Grafham DV , Grant M , Gribble S , Griffiths C , Griffiths M , Hall R , Halls KS , Hammond S , Harley JL , Hart EA , Heath PD , Heathcott R , Holmes SJ , Howden PJ , Howe KL , Howell GR , Huckle E , Humphray SJ , Humphries MD , Hunt AR , Johnson CM , Joy AA , Kay M , Keenan SJ , Kimberley AM , King A , Laird GK , Langford C , Lawlor S , Leongamornlert DA , Leversha M , Lloyd CR , Lloyd DM , Loveland JE , Lovell J , Martin S , Mashreghi-Mohammadi M , Maslen GL , Matthews L , Mccann OT , McLaren SJ , McLay K , McMurray A , Moore MJ , Mullikin JC , Niblett D , Nickerson T , Novik KL , Oliver K , Overton-Larty EK , Parker A , Patel R , Pearce AV , Peck AI , Phillimore B , Phillips S , Plumb RW , Porter KM , Ramsey Y , Ranby SA , Rice CM , Ross MT , Searle SM , Sehra HK , Sheridan E , Skuce CD , Smith S , Smith M , Spraggon L , Squares SL , Steward CA , Sycamore N , Tamlyn-Hall G , Tester J , Theaker AJ , Thomas DW , Thorpe A , Tracey A , Tromans A , Tubby B , Wall M , Wallis JM , West AP , White SS , Whitehead SL , Whittaker H , Wild A , Willey DJ , Wilmer TE , Wood JM , Wray PW , Wyatt JC , Young L , Younger RM , Bentley DR , Coulson A , Durbin R , Hubbard T , Sulston JE , Dunham I , Rogers J , Beck S
Ref : Nature , 425 :805 , 2003
PubMedID: 14574404
Gene_locus related to this paper: human-ABHD16A , human-BPHL , human-FAM135A , human-PRSS16 , human-SERAC1