Seroatlas · Human Serome Atlas

SERAC1

Protein SERAC1

Also known as: FLJ14917, SRAC1_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q96JX3
Gene: SERAC1
Ensembl: ENSG00000122335
Chromosome: 6
Canonical length: 654 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins

OverviewNCBI Gene

The protein encoded by this gene is a phosphatidylglycerol remodeling protein found at the interface of mitochondria and endoplasmic reticula, where it mediates phospholipid exchange. The encoded protein plays a major role in mitochondrial function and intracellular cholesterol trafficking. Defects in this gene are a cause of 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL). Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Aug 2012]

Canonical amino-acid sequenceUniProt

654 residues, UniProt reviewed canonical sequence.

>Q96JX3|SERAC1
     1  MSLAAYCVIC CRRIGTSTSP PKSGTHWRDI RNIIKFTGSL ILGGSLFLTY EVLALKKAVT
    61  LDTQVVEREK MKSYIYVHTV SLDKGENHGI AWQARKELHK AVRKVLATSA KILRNPFADP
   121  FSTVDIEDHE CAVWLLLRKS KSDDKTTRLE AVREMSETHH WHDYQYRIIA QACDPKTLIG
   181  LARSEESDLR FFLLPPPLPS LKEDSSTEEE LRQLLASLPQ TELDECIQYF TSLALSESSQ
   241  SLAAQKGGLW CFGGNGLPYA ESFGEVPSAT VEMFCLEAIV KHSEISTHCD KIEANGGLQL
   301  LQRLYRLHKD CPKVQRNIMR VIGNMALNEH LHSSIVRSGW VSIMAEAMKS PHIMESSHAA
   361  RILANLDRET VQEKYQDGVY VLHPQYRTSQ PIKADVLFIH GLMGAAFKTW RQQDSEQAVI
   421  EKPMEDEDRY TTCWPKTWLA KDCPALRIIS VEYDTSLSDW RARCPMERKS IAFRSNELLR
   481  KLRAAGVGDR PVVWISHSMG GLLVKKMLLE ASTKPEMSTV INNTRGIIFY SVPHHGSRLA
   541  EYSVNIRYLL FPSLEVKELS KDSPALKTLQ DDFLEFAKDK NFQVLNFVET LPTYIGSMIK
   601  LHVVPVESAD LGIGDLIPVD VNHLNICKPK KKDAFLYQRT LQFIREALAK DLEN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SERAC1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Other membrane
Secreted: No
Transmembrane segments: 1
Mean surface accessibility (rSASA): 0.31
Highest tissue expression: 7.5 nTPM

Expression across tissuesHPA

Tissue

blood vessel: 7.5 nTPM
pancreas: 7.2 nTPM
adrenal gland: 6.6 nTPM
esophagus: 5.9 nTPM
retina: 5.9 nTPM
testis: 5.8 nTPM

Single-cell type

late spermatids: 162 nCPM
early spermatids: 105 nCPM
esophageal apical cells: 58 nCPM
retinal amacrine cells: 55 nCPM
oligodendrocytes: 50 nCPM
late primary spermatocytes: 45 nCPM

Immune cell

intermediate monocyte: 2.5 nTPM
myeloid DC: 2.4 nTPM
classical monocyte: 2.3 nTPM
non-classical monocyte: 1.8 nTPM
basophil: 1.2 nTPM
neutrophil: 1.2 nTPM

Brain region

cerebral cortex: 10 nTPM
pons: 9.6 nTPM
white matter: 8.6 nTPM
choroid plexus: 8.3 nTPM
hippocampal formation: 8 nTPM
midbrain: 7.7 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SERAC1.

Disease | AllUniProt

Conditions SERAC1 is implicated in, by any mechanism.

3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL) MIM:614739

Disease | GeneticClinVar

59 pathogenic / likely-pathogenic of 518 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
SERAC1-related disorder
Inborn genetic diseases
Mitochondrial oxidative phosphorylation disorder
Ovarian serous cystadenocarcinoma

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.63
gnomAD pLI: 0
gnomAD missense Z: 1.49
DepMap mean gene effect: -0.07
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SERAC1 as an antibody target. Whether an autoantibody or antibody against SERAC1 could matter depends on whether native SERAC1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SERAC1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label SERAC1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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