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
Homo sapiens position in NCBI Life Tree :
N link to NCBI taxonomic web page and E link to ESTHER gene locus found in this strain.
> 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
Database
30 mutations: Table (ordered Natural and SD mutagenesis) (e.g. : R148X_human-SERAC1, c.1403+1G-C_human-SERAC1, 1167delTCAG_human-SERAC1 ... more)
No structure
No kinetic
Disease: MEGDEL syndrome -


>3 Genbank links 2 more: AK027823, AL135907, AL590703
2 UniProt : Q96JX3, Q5JVM6
2 UniProtTrembl : Q96JX3, Q5JVM6
2 Interpro : Q96JX3, Q5JVM6
2 Prodom : Q96JX3, Q5JVM6
2 Pfam : Q96JX3, Q5JVM6
2 PIRSF : Q96JX3, Q5JVM6
2 SUPERFAM : Q96JX3, Q5JVM6
2 QuickSwissBlast : Q96JX3, Q5JVM6
1 EntrezGene : 84947
1 SNP : 84947
2 OMIM : 614739, 614725
1 Ensembl : ENSG00000122335
 
Sequence
Graphical view for this peptide sequence: human-SERAC1
Colored MSA for PGAP1 (raw)
ADVLFIHGLMGAAFKTWRQQDSEQAVIEKPMEDEDRYTTCWPKTWLAKDC
PALRIISVEYDTSLSDWRARCPMERKSIAFRSNELLRKLRAAGVGDRPVV
WISHSMGGLLVKKMLLEASTKPEMSTVINNTRGIIFYSVPHHGSRLAEYS
VNIRYLLFPSLEVKELSKDSPALKTLQDDFLEFAKDKNFQVLNFVETLPT
YIGSMIKLHVVPVESADLGIGDLIPVDVNHLNICKPKKKDAFLYQRTLQF
IREALAKDLEN
Legend This sequence has been compared to family alignement (MSA)
red => minority aminoacid
blue => majority aminoacid
color intensity => conservation rate
title => sequence position(MSA position)aminoacid rate
Catalytic site
Catalytic site in the MSA

ADVLFIHGLMGAAFKTWRQQDSEQAVIEKPMEDEDRYTTCWPKTWLAKDC
PALRIISVEYDTSLSDWRARCPMERKSIAFRSNELLRKLRAAGVGDRPVV
WISHSMGGLLVKKMLLEASTKPEMSTVINNTRGIIFYSVPHHGSRLAEYS
VNIRYLLFPSLEVKELSKDSPALKTLQDDFLEFAKDKNFQVLNFVETLPT
YIGSMIKLHVVPVESADLGIGDLIPVDVNHLNICKPKKKDAFLYQRTLQF
IREALAKDLEN

no DNA




References
20 more
    Title: Novel mutations in SERAC1 gene in two Indian patients presenting with dystonia and intellectual disability
    Radha Rama Devi A, Lingappa L
    Ref: Eur Journal of Medical Genetics, 61:100, 2018 : PubMed

            

    Title: SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family
    Roeben B, Schule R, Ruf S, Bender B, Alhaddad B, Benkert T, Meitinger T, Reich S, Bohringer J and Synofzik M <7 more author(s)>
    Ref: Journal of Medical Genetics, 55:39, 2018 : PubMed

            

    Title: Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing
    Theunissen TE, Sallevelt SC, Hellebrekers DM, de Koning B, Hendrickx AT, van den Bosch BJ, Kamps R, Schoonderwoerd K, Szklarczyk R and Smeets HJ <2 more author(s)>
    Ref: J Pediatr, 182:371, 2017 : PubMed

            


Other Papers


Send your questions or comments to :
Mail to: Nicolas Lenfant, Thierry Hotelier, Yves Bourne, Pascale Marchot and Arnaud Chatonnet.
Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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