Seroatlas · Human Serome Atlas

CRLS1

Cardiolipin synthase (CMP-forming)

Also known as: C20orf155, CLS1, CRLS1_HUMAN, dJ967N21.6, GCD10

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

Protein identityUniProt · HPA

UniProt accession: Q9UJA2
Gene: CRLS1
Ensembl: ENSG00000088766
Chromosome: 20
Canonical length: 301 aa
Protein class: Enzymes, Metabolic proteins, Predicted membrane proteins

OverviewNCBI Gene

This gene encodes a member of the CDP-alcohol phosphatidyltransferase class-I family of proteins. The encoded enzyme catalyzes the synthesis of cardiolipin, a phospholipid component of mitochondrial membranes that is critical for mitochondrial function. [provided by RefSeq, Apr 2016]

Canonical amino-acid sequenceUniProt

301 residues, UniProt reviewed canonical sequence.

>Q9UJA2|CRLS1
     1  MLALRVARGS WGALRGAAWA PGTRPSKRRA CWALLPPVPC CLGCLAERWR LRPAALGLRL
    61  PGIGQRNHCS GAGKAAPRPA AGAGAAAEAP GGQWGPASTP SLYENPWTIP NMLSMTRIGL
   121  APVLGYLIIE EDFNIALGVF ALAGLTDLLD GFIARNWANQ RSALGSALDP LADKILISIL
   181  YVSLTYADLI PVPLTYMIIS RDVMLIAAVF YVRYRTLPTP RTLAKYFNPC YATARLKPTF
   241  ISKVNTAVQL ILVAASLAAP VFNYADSIYL QILWCFTAFT TAASAYSYYH YGRKTVQVIK
   301  D

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CRLS1 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: 5
Mean surface accessibility (rSASA): 0.46
Highest tissue expression: 158 nTPM

Expression across tissuesHPA

Tissue

liver: 158 nTPM
skeletal muscle: 81 nTPM
heart muscle: 77 nTPM
tongue: 74 nTPM
duodenum: 56 nTPM
kidney: 54 nTPM

Single-cell type

proximal tubule cells: 87 nCPM
choroid plexus epithelial cells: 77 nCPM
loop of henle epithelial cells: 64 nCPM
ependymal cells: 52 nCPM
distal convoluted tubule cells: 51 nCPM
podocytes: 50 nCPM

Immune cell

memory B-cell: 2.3 nTPM
MAIT T-cell: 2.2 nTPM
NK-cell: 1.7 nTPM
plasmacytoid DC: 1.6 nTPM
naive CD4 T-cell: 1.4 nTPM
myeloid DC: 1.3 nTPM

Brain region

thalamus: 17 nTPM
choroid plexus: 16 nTPM
midbrain: 14 nTPM
medulla oblongata: 14 nTPM
spinal cord: 13 nTPM
white matter: 13 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CRLS1.

Disease | AllUniProt

Conditions CRLS1 is implicated in, by any mechanism.

Combined oxidative phosphorylation deficiency 57 (COXPD57) MIM:620167

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 58 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Combined oxidative phosphorylation deficiency 57

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): 0.93
gnomAD pLI: 0
gnomAD missense Z: 0.47
DepMap mean gene effect: -0.5
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 9% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

1-acylglycerol-3-phosphate O-acyltransferase activity
2-acylglycerol-3-phosphate O-acyltransferase activity
cardiolipin synthase (CMP-forming)

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CRLS1 as an antibody target. Whether an autoantibody or antibody against CRLS1 could matter depends on whether native CRLS1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CRLS1 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 CRLS1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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