SERAC1

Relationship

Family: SERAC1

Block: X

Parent Family: No family

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