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. Only the c-term is homologous to alpha/beta hydrolases and only this domain is considered in ESTHER. N-terminal can be Armadillo-like helical domain
Database
Interpro : IPR052374 SERAC1
PIRSF : No PIRSF
Pdoc : No Pdoc
Pfam : No Pfam
Prints : No Print
EC Number : No EC Number
Sequences
| Peptide in | Fasta |
| Nucleotide in | Fasta |
| Alignment with Multalin | Text only |
| Seed alignment with MAFFT | No colour / coloured with Mview |
| Alignment with MAFFT | No colour / coloured with Mview |
| Dendrogram | The dnd file |
| Gene_locus | Name | Species |
|---|---|---|
| 9ceta-a0a8c3vpd8 | Catagonus wagneri (Chacoan peccary). Serine active site-containing protein 1 | Catagonus wagneri |
| 9prim-a0a8c9izx3 | Piliocolobus tephrosceles (Ugandan red Colobus). Serine active site-containing protein 1 | Piliocolobus tephrosceles |
| acijb-a0a6j1z4e6 | Acinonyx jubatus (Cheetah). Serine active site-containing protein 1 | Acinonyx jubatus |
| ailme-g1lsl2 | Ailuropoda melanoleuca (Giant panda). Serine active site-containing protein 1 | Ailuropoda melanoleuca |
| aotna-a0a2k5e5s0 | Aotus nancymaae (Ma's night monkey). Serine active site-containing protein 1 | Aotus nancymaae |
| bovin-srac1 | Bos taurus (Bovine) \; Bos indicus x Bos taurus (Hybrid cattle)\; Bos indicus (Zebu)\; Bos mutus grunniens (Wild yak) (Bos grunniens)\;Bos mutus (wild yak)\; Bison bison bison (North American plains bison) Protein SERAC1 | Bos taurus |
| calja-u3fub9 | Callithrix jacchus (White-tufted-ear marmoset). Serine active site-containing protein 1 | Callithrix jacchus |
| calur-a0a3q7nv65 | Callorhinus ursinus (Northern fur seal). Serine active site-containing protein 1 | Callorhinus ursinus |
| camdr-a0a5n4dxc6 | Camelus dromedarius (Dromedary) (Arabian camel). Serine active site-containing protein 1 | Camelus dromedarius |
| canlf-a0a8i3mgn0 | Canis lupus familiaris (Dog) (Canis familiaris)\; Canis lupus dingo (dingo). Serine active site-containing protein 1 | Canis lupus familiaris |
| caphi-a0a452efm7 | Capra hircus (Goat). Serine active site-containing protein 1 | Capra hircus |
| carsf-a0a1u7uyy5 | Carlito syrichta (Philippine tarsier) (Tarsius syrichta). Serine active site-containing protein 1 | Carlito syrichta |
| cascn-a0a8c0xls0 | Castor canadensis (American beaver). Serine active site-containing protein 1 | Castor canadensis |
| cavpo-h0vin2 | Cavia porcellus (Guinea pig). Serine active site-containing protein 1 | Cavia porcellus |
| cebim-a0a2k5r768 | Cebus imitator (Panamanian white-faced capuchin) (Cebus capucinus imitator). Serine active site-containing protein 1 | Cebus imitator |
| cerat-a0a2k5ndd4 | Cercocebus atys (Sooty mangabey) (Cercocebus torquatus atys). Serine active site-containing protein 1 | Cercocebus atys |
| chila-a0a8c2urs2 | Chinchilla lanigera (Long-tailed chinchilla) (Chinchilla villidera). Serine active site-containing protein 1 | Chinchilla lanigera |
| chlsb-a0a0d9rkp6 | Chlorocebus sabaeus (Green monkey) (Cercopithecus sabaeus). Serine active site-containing protein 1 | Chlorocebus sabaeus |
| chras-a0a9b0tr60 | Chrysochloris asiatica (Cape golden mole). Serine active site-containing protein 1 | Chrysochloris asiatica |
| colap-a0a2k5h719 | Colobus angolensis palliatus (Peters' Angolan colobus). Serine active site-containing protein 1 | Colobus angolensis palliatus |
| crigr-g3hfx3 | Cricetulus griseus (Chinese hamster) (Cricetulus barabensis griseus). Serine active site-containing protein 1 | Cricetulus griseus |
| crocr-a0a6g1b7w4 | Crocuta crocuta (Spotted hyena). Serine active site-containing protein 1 | Crocuta crocuta |
| danre-srac1 | Danio rerio (Zebrafish) (Brachydanio rerio) Protein SERAC1 | Danio rerio |
| delle-a0a2y9m1u3 | Delphinapterus leucas (Beluga whale)\; Physeter macrocephalus (Sperm whale) (Physeter catodon)\; Lipotes vexillifer (Yangtze river dolphin)\; Neophocaena asiaeorientalis asiaeorientalis (Yangtze finless porpoise)\; Balaenoptera acutorostrata scammoni (North Pacific minke whale) (Balaenoptera davidsoni)\;Tursiops truncatus (Atlantic bottle-nosed dolphin) (Delphinus truncatus)\; Balaenoptera physalus (Fin whale) (Balaena physalus)\; Balaenoptera musculus (Blue whale)\; Phocoena sinus (Vaquita)\; Eschrichtius robustus (California gray whale) (Eschrichtius gibbosus).Serine active site-containing protein 1 SERAC1 | Delphinapterus leucas |
| dipor-a0a1s3ftz7 | Dipodomys ordii (Ord's kangaroo rat). Serine active site-containing protein 1 | Dipodomys ordii |
| enhlu-a0a2y9krp8 | Enhydra lutris kenyoni (northern sea otter). Serine active site-containing protein 1 | Enhydra lutris kenyoni |
| felca-m3we26 | Felis catus (Cat) (Felis silvestris catus)\; Lynx canadensis (Canada lynx) (Felis canadensis)\; Lynx pardinus (Iberian lynx) (Felis pardina). Serine active site-containing protein 1 | Felis catus |
| fukda-a0a091dqu2 | Fukomys damarensis (Damaraland mole rat) (Cryptomys damarensis). Serine active site-containing protein 1 | Fukomys damarensis |
| galpy-a0a8j6aqu1 | Galemys pyrenaicus (Iberian desman) (Pyrenean desman). Serine active site-containing protein 1 | Galemys pyrenaicus |
| gorgo-g3qj31 | Gorilla gorilla gorilla (Western lowland gorilla). Serine active site-containing protein 1 | Gorilla gorilla gorilla |
| gulgu-a0a9x9lrk9 | Gulo gulo (Wolverine) (Gluton). Protein SERAC1 | Gulo gulo |
| hetga-g5b2s5 | Heterocephalus glaber (Naked mole rat). Serine active site-containing protein 1 | Heterocephalus glaber |
| horse-a0a9l0rdr2 | Equus caballus (Horse)\; Equus asinus (Donkey) (Equus africanus asinus). Serine active site-containing protein 1 | Equus caballus |
| human-SERAC1 | Homo sapiens (Human) Protein SERAC1 | Homo sapiens |
| icttr-i3mrm1 | Ictidomys tridecemlineatus (Thirteen-lined ground squirrel) (Spermophilus tridecemlineatus). Serine active site-containing protein 1 | Ictidomys tridecemlineatus |
| jacja-a0a8c5k2b8 | Jaculus jaculus (Lesser Egyptian jerboa). Serine active site-containing protein 1 | Jaculus jaculus |
| lepwe-a0a2u3y603 | Leptonychotes weddellii (Weddell seal) (Otaria weddellii). Serine active site-containing protein 1 | Leptonychotes weddellii |
| loxaf-g3smd8 | Loxodonta africana (African elephant). Serine active site-containing protein 1 | Loxodonta africana |
| macfa-a0a2k5wq43 | Macaca fascicularis (Crab-eating macaque) (Cynomolgus monkey)\; Macaca nemestrina (Pig-tailed macaque). Serine active site-containing protein 1 | Macaca fascicularis |
| macmu-f7fpd7 | Macaca mulatta (Rhesus macaque). Serine active site-containing protein 1 | Macaca mulatta |
| manle-a0a2k5zti9 | Mandrillus leucophaeus (Drill) (Papio leucophaeus). Serine active site-containing protein 1 | Mandrillus leucophaeus |
| marma-a0a8c5z917 | Marmota marmota marmota (Alpine marmot)\; Marmota monax (Woodchuck). Serine active site-containing protein 1 | Marmota marmota marmota |
| molmo-a0a7j8gsw6 | Molossus molossus (Pallas' mastiff bat) (Vespertilio molossus). Serine active site-containing protein 1 | Molossus molossus |
| monmo-a0a4u1en34 | Monodon monoceros (Narwhal) (Ceratodon monodon). DUF676 domain-containing protein | Monodon monoceros |
| mosmo-a0a8c6chk2 | Moschus moschiferus (Siberian musk deer) (Moschus sibiricus). Serine active site-containing protein 1 | Moschus moschiferus |
| mouse-srac1 | Mus musculus (Mouse) Protein SERAC1 | Mus musculus |
| munre-a0a5j5mka5 | Muntiacus reevesi (Reeves' muntjac) (Cervus reevesi). Serine active site-containing protein 1 | Muntiacus reevesi |
| muspf-m3y1r5 | Mustela putorius furo (European domestic ferret) (Mustela furo). Serine active site-containing protein 1 | Mustela putorius furo |
| myobr-s7pm07 | Myotis brandtii (Brandt's bat). Serine active site-containing protein 1 | Myotis brandtii |
| myolu-g1nt22 | Myotis lucifugus (Little brown bat). Serine active site-containing protein 1 | Myotis lucifugus |
| myomy-a0a7j7wx40 | Myotis myotis (Greater mouse-eared bat). Serine active site-containing protein 1 | Myotis myotis |
| nanga-a0a8c6qsj5 | Nannospalax galili (Northern Israeli blind subterranean mole rat) (Spalax galili). Serine active site-containing protein 1 | Nannospalax galili |
| neosc-a0a2y9hak7 | Neomonachus schauinslandi (Hawaiian monk seal) (Monachus schauinslandi). Serine active site-containing protein 1 | Neomonachus schauinslandi |
| neovi-a0a8c7as23 | Neovison vison (American mink) (Mustela vison). Serine active site-containing protein 1 | Neovison vison |
| nomle-g1riv8 | Nomascus leucogenys (Northern white-cheeked gibbon) (Hylobates leucogenys). Serine active site-containing protein 1 | Nomascus leucogenys |
| nycpr-a0a811zsh3 | Nyctereutes procyonoides (Raccoon dog) (Canis procyonoides). Serine active site-containing protein 1 | Nyctereutes procyonoides |
| octde-a0a6p3eq00 | Octodon degus (Degu) (Sciurus degus). Serine active site-containing protein 1 | Octodon degus |
| odoro-a0a9b0hem7 | Odobenus rosmarus divergens (Pacific walrus). Serine active site-containing protein 1 | Odobenus rosmarus divergens |
| odovr-a0a6j0x9w6 | Odocoileus virginianus texanus. Serine active site-containing protein 1 | Odocoileus virginianus texanus |
| oryaf-a0a8b7a685 | Orycteropus afer afer. Serine active site-containing protein 1 | Orycteropus afer afer |
| otoga-h0wgi8 | Otolemur garnettii (Small-eared galago) (Garnett's greater bushbaby). Serine active site-containing protein 1 | Otolemur garnettii |
| panle-a0a8c8wjk2 | Panthera leo (Lion). Serine active site-containing protein 1 | Panthera leo |
| panpa-a0a2r9amd7 | Pan paniscus (Pygmy chimpanzee) (Bonobo). Serine active site-containing protein 1 | Pan paniscus |
| pantr-h2qty7 | Pan troglodytes (Chimpanzee). Serine active site-containing protein 1 | Pan troglodytes |
| papan-a0a2i3lgq8 | Papio anubis (Olive baboon). Serine active site-containing protein 1 | Papio anubis |
| pig-a0a286zw78 | Sus scrofa (Pig). Serine active site-containing protein 1 | Sus scrofa |
| pipku-a0a7j7ynj8 | Pipistrellus kuhlii (Kuhl's pipistrelle). Serine active site-containing protein 1 | Pipistrellus kuhlii |
| ponab-a0a8i5t406 | Pongo abelii (Sumatran orangutan) (Pongo pygmaeus abelii). Serine active site-containing protein 1 | Pongo abelii |
| proco-a0a2k6ewd6 | Propithecus coquereli (Coquerel's sifaka) (Propithecus verreauxi coquereli). Serine active site-containing protein 1 | Propithecus coquereli |
| pross-a0a8c9af48 | Prolemur simus (Greater bamboo lemur) (Hapalemur simus). Serine active site-containing protein 1 | Prolemur simus |
| pteva-a0a6p3r324 | Pteropus vampyrus (Large flying fox). Serine active site-containing protein 1 | Pteropus vampyrus |
| pumco-a0a6p6i0i1 | Puma concolor (Mountain lion) (Felis concolor). Serine active site-containing protein 1 | Puma concolor |
| rabit-g1smi0 | Oryctolagus cuniculus (Rabbit). Serine active site-containing protein 1 | Oryctolagus cuniculus |
| rhibe-a0a2k6l710 | Rhinopithecus bieti (Black snub-nosed monkey) (Pygathrix bieti)\; Rhinopithecus roxellana (Golden snub-nosed monkey) (Pygathrix roxellana). Serine active site-containing protein 1 | Rhinopithecus bieti |
| rhife-a0a671g0e9 | Rhinolophus ferrumequinum (Greater horseshoe bat). Serine active site-containing protein 1 | Rhinolophus ferrumequinum |
| rouae-a0a7j8kg87 | Rousettus aegyptiacus (Egyptian fruit bat) (Pteropus aegyptiacus). Serine active site-containing protein 1 | Rousettus aegyptiacus |
| saibb-a0a2k6tqj6 | Saimiri boliviensis boliviensis (Bolivian squirrel monkey). Serine active site-containing protein 1 | Saimiri boliviensis boliviensis |
| sapap-a0a6j3ftj3 | Sapajus apella (Brown-capped capuchin) (Cebus apella). Serine active site-containing protein 1 | Sapajus apella |
| scica-a0aa41mg89 | Sciurus carolinensis (Eastern gray squirrel). Serine active site-containing protein 1 | Sciurus carolinensis |
| scivu-a0a8d2dc40 | Sciurus vulgaris (Eurasian red squirrel). Serine active site-containing protein 1 | Sciurus vulgaris |
| sheep-a0a6p3e8u6 | Ovis aries (Sheep). Serine active site-containing protein 1 | Ovis aries |
| thege-a0a8d2g6k0 | Theropithecus gelada (Gelada baboon). Serine active site-containing protein 1 | Theropithecus gelada |
| trima-a0a2y9d6s6 | Trichechus manatus latirostris (Florida manatee). Serine active site-containing protein 1 | Trichechus manatus latirostris |
| uropr-a0a8d2hvg8 | Urocitellus parryii (Arctic ground squirrel) (Spermophilus parryii). Serine active site-containing protein 1 | Urocitellus parryii |
| ursma-a0a384bvw9 | Ursus maritimus (Polar bear) (Thalarctos maritimus)\; Ursus americanus (American black bear) (Euarctos americanus). Serine active site-containing protein 1 | Ursus maritimus |
| ursma-a0a8m1fkn2 | Ursus maritimus (Polar bear) (Thalarctos maritimus). Serine active site-containing protein 1 | Ursus maritimus |
| vicpa-a0a6i9hyn5 | Vicugna pacos (Alpaca) (Lama pacos). Serine active site-containing protein 1 | Vicugna pacos |
| vulvu-a0a3q7txh8 | Vulpes vulpes (Red fox). Serine active site-containing protein 1 | Vulpes vulpes |
References (5)
| Title : SERAC1 is a component of the mitochondrial serine transporter complex required for the maintenance of mitochondrial DNA - Fang_2022_Sci.Transl.Med_14_eabl6992 |
| Author(s) : Fang H , Xie A , Du M , Li X , Yang K , Fu Y , Yuan X , Fan R , Yu W , Zhou Z , Sang T , Nie K , Li J , Zhao Q , Chen Z , Yang Y , Hong C , Lyu J |
| Ref : Sci Transl Med , 14 :eabl6992 , 2022 |
| Abstract : |
| PubMedSearch : Fang_2022_Sci.Transl.Med_14_eabl6992 |
| PubMedID: 35235340 |
| Gene_locus related to this paper: human-SERAC1 |
| Title : Serine active site containing protein 1 depletion alters lipid metabolism and protects against high fat diet-induced obesity in mice - Du_2022_Metabolism_134_155244 |
| Author(s) : Du M , Li X , Xiao F , Fu Y , Shi Y , Guo S , Chen L , Shen L , Wang L , Cheng H , Li H , Xie A , Zhou Y , Yang K , Fang H , Lyu J , Zhao Q |
| Ref : Metabolism , 134 :155244 , 2022 |
| Abstract : |
| PubMedSearch : Du_2022_Metabolism_134_155244 |
| PubMedID: 35760118 |
| Gene_locus related to this paper: mouse-srac1 , human-SERAC1 |
| Title : Mitochondria-Associated Membrane Scaffolding with Endoplasmic Reticulum: A Dynamic Pathway of Developmental Disease - Saneto_2022_Front.Mol.Biosci_9_908721 |
| Author(s) : Saneto RP , Perez FA |
| Ref : Front Mol Biosci , 9 :908721 , 2022 |
| Abstract : |
| PubMedSearch : Saneto_2022_Front.Mol.Biosci_9_908721 |
| PubMedID: 35775081 |
| 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 |
| Abstract : |
| PubMedSearch : Rodriguez-Garcia_2016_Neurogenetics_17_51 |
| PubMedID: 26445863 |
| 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 |
| Abstract : |
| PubMedSearch : Wortmann_2012_Nat.Genet_44_797 |
| PubMedID: 22683713 |
| Gene_locus related to this paper: human-SERAC1 |