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Protein

Protein SERAC1

Gene

SERAC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Plays an important role in the phosphatidylglycerol remodeling that is essential for both mitochondrial function and intracellular cholesterol trafficking. May catalyze the remodeling of phosphatidylglycerol and be involved in the transacylation-acylation reaction to produce phosphatidylglycerol-36:1. May be involved in bis(monoacylglycerol)phosphate biosynthetic pathway.1 Publication

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Lipid biosynthesis, Lipid metabolism, Phospholipid biosynthesis, Phospholipid metabolism

Enzyme and pathway databases

BioCyciZFISH:ENSG00000122335-MONOMER.

Protein family/group databases

ESTHERihuman-SERAC1. PGAP1.

Names & Taxonomyi

Protein namesi
Recommended name:
Protein SERAC1
Alternative name(s):
Serine active site-containing protein 1
Gene namesi
Name:SERAC1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:21061. SERAC1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei32 – 54HelicalSequence analysisAdd BLAST23

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Mitochondrion

Pathology & Biotechi

Involvement in diseasei

3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by childhood onset of delayed psychomotor development or psychomotor regression, sensorineural deafness, spasticity or dystonia, and increased excretion of 3-methylglutaconic acid. Brain imaging shows cerebral and cerebellar atrophy as well as lesions in the basal ganglia reminiscent of Leigh syndrome. Laboratory studies show increased serum lactate and alanine, mitochondrial oxidative phosphorylation defects, abnormal mitochondria, abnormal phosphatidylglycerol and cardiolipin profiles in fibroblasts, and abnormal accumulation of unesterified cholesterol within cells.
See also OMIM:614739
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_068442401G → D in MEGDEL. 1 Publication1
Natural variantiVAR_068443404G → E in MEGDEL. 1 Publication1
Natural variantiVAR_068444479Missing in MEGDEL. 1 Publication1
Natural variantiVAR_068445498S → T in MEGDEL. 1 PublicationCorresponds to variant rs201941476dbSNPEnsembl.1

Keywords - Diseasei

Deafness, Disease mutation

Organism-specific databases

DisGeNETi84947.
MalaCardsiSERAC1.
MIMi614739. phenotype.
OpenTargetsiENSG00000122335.
Orphaneti352328. MEGDEL syndrome.
PharmGKBiPA134951844.

Polymorphism and mutation databases

BioMutaiSERAC1.
DMDMi74751971.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002746711 – 654Protein SERAC1Add BLAST654

Proteomic databases

EPDiQ96JX3.
MaxQBiQ96JX3.
PaxDbiQ96JX3.
PeptideAtlasiQ96JX3.
PRIDEiQ96JX3.

PTM databases

iPTMnetiQ96JX3.
PhosphoSitePlusiQ96JX3.

Expressioni

Tissue specificityi

Widely expressed, with predominant expression in fetal skeletal muscle and adult brain. In the brain, highest levels are found in the frontal and occipital cortices, cerebellum and hippocampus.1 Publication

Gene expression databases

BgeeiENSG00000122335.
CleanExiHS_SERAC1.
ExpressionAtlasiQ96JX3. baseline and differential.
GenevisibleiQ96JX3. HS.

Organism-specific databases

HPAiHPA025715.
HPA025716.

Interactioni

Protein-protein interaction databases

BioGridi124380. 5 interactors.
IntActiQ96JX3. 1 interactor.
STRINGi9606.ENSP00000356071.

Structurei

3D structure databases

ProteinModelPortaliQ96JX3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the SERAC1 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2029. Eukaryota.
ENOG410YIPC. LUCA.
GeneTreeiENSGT00390000003560.
HOGENOMiHOG000154411.
HOVERGENiHBG057428.
InParanoidiQ96JX3.
OMAiALVQHSK.
OrthoDBiEOG091G061M.
PhylomeDBiQ96JX3.
TreeFamiTF319689.

Family and domain databases

Gene3Di1.25.10.10. 2 hits.
3.40.50.1820. 1 hit.
InterProiIPR029058. AB_hydrolase.
IPR011989. ARM-like.
IPR016024. ARM-type_fold.
[Graphical view]
SUPFAMiSSF48371. SSF48371. 1 hit.
SSF53474. SSF53474. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96JX3-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSLAAYCVIC CRRIGTSTSP PKSGTHWRDI RNIIKFTGSL ILGGSLFLTY
60 70 80 90 100
EVLALKKAVT LDTQVVEREK MKSYIYVHTV SLDKGENHGI AWQARKELHK
110 120 130 140 150
AVRKVLATSA KILRNPFADP FSTVDIEDHE CAVWLLLRKS KSDDKTTRLE
160 170 180 190 200
AVREMSETHH WHDYQYRIIA QACDPKTLIG LARSEESDLR FFLLPPPLPS
210 220 230 240 250
LKEDSSTEEE LRQLLASLPQ TELDECIQYF TSLALSESSQ SLAAQKGGLW
260 270 280 290 300
CFGGNGLPYA ESFGEVPSAT VEMFCLEAIV KHSEISTHCD KIEANGGLQL
310 320 330 340 350
LQRLYRLHKD CPKVQRNIMR VIGNMALNEH LHSSIVRSGW VSIMAEAMKS
360 370 380 390 400
PHIMESSHAA RILANLDRET VQEKYQDGVY VLHPQYRTSQ PIKADVLFIH
410 420 430 440 450
GLMGAAFKTW RQQDSEQAVI EKPMEDEDRY TTCWPKTWLA KDCPALRIIS
460 470 480 490 500
VEYDTSLSDW RARCPMERKS IAFRSNELLR KLRAAGVGDR PVVWISHSMG
510 520 530 540 550
GLLVKKMLLE ASTKPEMSTV INNTRGIIFY SVPHHGSRLA EYSVNIRYLL
560 570 580 590 600
FPSLEVKELS KDSPALKTLQ DDFLEFAKDK NFQVLNFVET LPTYIGSMIK
610 620 630 640 650
LHVVPVESAD LGIGDLIPVD VNHLNICKPK KKDAFLYQRT LQFIREALAK

DLEN
Length:654
Mass (Da):74,147
Last modified:December 1, 2001 - v1
Checksum:iB40F3B41C0FBEDDE
GO
Isoform 2 (identifier: Q96JX3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     469-531: KSIAFRSNEL...NNTRGIIFYS → RSLLSISSGI...CCWKPLRSQK
     532-654: Missing.

Show »
Length:531
Mass (Da):60,215
Checksum:i49757860C8A77CE5
GO
Isoform 3 (identifier: Q96JX3-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     163-167: DYQYR → GNETT
     168-654: Missing.

Show »
Length:167
Mass (Da):18,952
Checksum:i3143EEA6FA3AB1DD
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti47F → L in AAH28594 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_068442401G → D in MEGDEL. 1 Publication1
Natural variantiVAR_068443404G → E in MEGDEL. 1 Publication1
Natural variantiVAR_068444479Missing in MEGDEL. 1 Publication1
Natural variantiVAR_068445498S → T in MEGDEL. 1 PublicationCorresponds to variant rs201941476dbSNPEnsembl.1
Natural variantiVAR_030342543S → T.1 PublicationCorresponds to variant rs17849527dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_022857163 – 167DYQYR → GNETT in isoform 3. 1 Publication5
Alternative sequenceiVSP_022858168 – 654Missing in isoform 3. 1 PublicationAdd BLAST487
Alternative sequenceiVSP_022859469 – 531KSIAF…IIFYS → RSLLSISSGIVEGLESPLHS EATNFLGSSELLVLGIGQWF GYHIAWEVFLSKRCCWKPLR SQK in isoform 2. CuratedAdd BLAST63
Alternative sequenceiVSP_022860532 – 654Missing in isoform 2. CuratedAdd BLAST123

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK027823 mRNA. Translation: BAB55393.1.
AL135907, AL590703 Genomic DNA. Translation: CAI42499.1.
AL135907, AL590703 Genomic DNA. Translation: CAI42500.1.
AL590703, AL135907 Genomic DNA. Translation: CAH70239.1.
AL590703, AL135907 Genomic DNA. Translation: CAH70240.1.
BC001705 mRNA. Translation: AAH01705.1.
BC028594 mRNA. Translation: AAH28594.1.
CCDSiCCDS5255.1. [Q96JX3-1]
RefSeqiNP_116250.3. NM_032861.3. [Q96JX3-1]
UniGeneiHs.154706.

Genome annotation databases

EnsembliENST00000367101; ENSP00000356068; ENSG00000122335. [Q96JX3-2]
ENST00000367104; ENSP00000356071; ENSG00000122335. [Q96JX3-1]
ENST00000607000; ENSP00000475788; ENSG00000122335. [Q96JX3-3]
GeneIDi84947.
KEGGihsa:84947.
UCSCiuc003qrc.3. human. [Q96JX3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK027823 mRNA. Translation: BAB55393.1.
AL135907, AL590703 Genomic DNA. Translation: CAI42499.1.
AL135907, AL590703 Genomic DNA. Translation: CAI42500.1.
AL590703, AL135907 Genomic DNA. Translation: CAH70239.1.
AL590703, AL135907 Genomic DNA. Translation: CAH70240.1.
BC001705 mRNA. Translation: AAH01705.1.
BC028594 mRNA. Translation: AAH28594.1.
CCDSiCCDS5255.1. [Q96JX3-1]
RefSeqiNP_116250.3. NM_032861.3. [Q96JX3-1]
UniGeneiHs.154706.

3D structure databases

ProteinModelPortaliQ96JX3.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124380. 5 interactors.
IntActiQ96JX3. 1 interactor.
STRINGi9606.ENSP00000356071.

Protein family/group databases

ESTHERihuman-SERAC1. PGAP1.

PTM databases

iPTMnetiQ96JX3.
PhosphoSitePlusiQ96JX3.

Polymorphism and mutation databases

BioMutaiSERAC1.
DMDMi74751971.

Proteomic databases

EPDiQ96JX3.
MaxQBiQ96JX3.
PaxDbiQ96JX3.
PeptideAtlasiQ96JX3.
PRIDEiQ96JX3.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000367101; ENSP00000356068; ENSG00000122335. [Q96JX3-2]
ENST00000367104; ENSP00000356071; ENSG00000122335. [Q96JX3-1]
ENST00000607000; ENSP00000475788; ENSG00000122335. [Q96JX3-3]
GeneIDi84947.
KEGGihsa:84947.
UCSCiuc003qrc.3. human. [Q96JX3-1]

Organism-specific databases

CTDi84947.
DisGeNETi84947.
GeneCardsiSERAC1.
HGNCiHGNC:21061. SERAC1.
HPAiHPA025715.
HPA025716.
MalaCardsiSERAC1.
MIMi614725. gene.
614739. phenotype.
neXtProtiNX_Q96JX3.
OpenTargetsiENSG00000122335.
Orphaneti352328. MEGDEL syndrome.
PharmGKBiPA134951844.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2029. Eukaryota.
ENOG410YIPC. LUCA.
GeneTreeiENSGT00390000003560.
HOGENOMiHOG000154411.
HOVERGENiHBG057428.
InParanoidiQ96JX3.
OMAiALVQHSK.
OrthoDBiEOG091G061M.
PhylomeDBiQ96JX3.
TreeFamiTF319689.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000122335-MONOMER.

Miscellaneous databases

GeneWikiiSERAC1.
GenomeRNAii84947.
PROiQ96JX3.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000122335.
CleanExiHS_SERAC1.
ExpressionAtlasiQ96JX3. baseline and differential.
GenevisibleiQ96JX3. HS.

Family and domain databases

Gene3Di1.25.10.10. 2 hits.
3.40.50.1820. 1 hit.
InterProiIPR029058. AB_hydrolase.
IPR011989. ARM-like.
IPR016024. ARM-type_fold.
[Graphical view]
SUPFAMiSSF48371. SSF48371. 1 hit.
SSF53474. SSF53474. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiSRAC1_HUMAN
AccessioniPrimary (citable) accession number: Q96JX3
Secondary accession number(s): Q49AT1, Q5VTX3, Q6PKF3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 6, 2007
Last sequence update: December 1, 2001
Last modified: November 2, 2016
This is version 119 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.