Seroatlas · Human Serome Atlas

CERT1

Ceramide transfer protein

Also known as: CERT, CERT_HUMAN, COL4A3BP, GPBP, STARD11

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

Protein identityUniProt · HPA

UniProt accession: Q9Y5P4
Gene: CERT1
Ensembl: ENSG00000113163
Chromosome: 5
Canonical length: 624 aa
Protein class: Disease related genes, Human disease related genes, Metabolic proteins, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Golgi apparatus

OverviewNCBI Gene

This gene encodes a kinase that specifically phosphorylates the N-terminal region of the non-collagenous domain of the alpha 3 chain of type IV collagen, known as the Goodpasture antigen. Goodpasture disease is the result of an autoimmune response directed at this antigen. One isoform of this protein is also involved in ceramide intracellular transport. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

624 residues, UniProt reviewed canonical sequence.

>Q9Y5P4|CERT1
     1  MSDNQSWNSS GSEEDPETES GPPVERCGVL SKWTNYIHGW QDRWVVLKNN ALSYYKSEDE
    61  TEYGCRGSIC LSKAVITPHD FDECRFDISV NDSVWYLRAQ DPDHRQQWID AIEQHKTESG
   121  YGSESSLRRH GSMVSLVSGA SGYSATSTSS FKKGHSLREK LAEMETFRDI LCRQVDTLQK
   181  YFDACADAVS KDELQRDKVV EDDEDDFPTT RSDGDFLHST NGNKEKLFPH VTPKGINGID
   241  FKGEAITFKA TTAGILATLS HCIELMVKRE DSWQKRLDKE TEKKRRTEEA YKNAMTELKK
   301  KSHFGGPDYE EGPNSLINEE EFFDAVEAAL DRQDKIEEQS QSEKVRLHWP TSLPSGDAFS
   361  SVGTHRFVQK PYSRSSSMSS IDLVSASDDV HRFSSQVEEM VQNHMTYSLQ DVGGDANWQL
   421  VVEEGEMKVY RREVEENGIV LDPLKATHAV KGVTGHEVCN YFWNVDVRND WETTIENFHV
   481  VETLADNAII IYQTHKRVWP ASQRDVLYLS VIRKIPALTE NDPETWIVCN FSVDHDSAPL
   541  NNRCVRAKIN VAMICQTLVS PPEGNQEISR DNILCKITYV ANVNPGGWAP ASVLRAVAKR
   601  EYPKFLKRFT SYVQEKTAGK PILF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CERT1 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: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.4
Highest tissue expression: 47 nTPM

Expression across tissuesHPA

Tissue

thyroid gland: 47 nTPM
adipose tissue: 36 nTPM
skeletal muscle: 33 nTPM
cervix: 32 nTPM
liver: 29 nTPM
testis: 27 nTPM

Single-cell type

neutrophils: 716 nCPM
neutrophil progenitors: 573 nCPM
adipocytes: 279 nCPM
monocytes: 274 nCPM
respiratory basal cells: 269 nCPM
mast cells: 249 nCPM

Immune cell

neutrophil: 29 nTPM
non-classical monocyte: 25 nTPM
intermediate monocyte: 22 nTPM
classical monocyte: 20 nTPM
eosinophil: 16 nTPM
myeloid DC: 14 nTPM

Brain region

cerebellum: 40 nTPM
midbrain: 40 nTPM
white matter: 38 nTPM
pons: 38 nTPM
basal ganglia: 36 nTPM
hypothalamus: 36 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CERT1.

Disease | AllUniProt

Conditions CERT1 is implicated in, by any mechanism.

Neurodevelopmental disorder with hypotonia, speech delay, and dysmorphic facies (NEDHSF) MIM:616351

Disease | GeneticClinVar

13 pathogenic / likely-pathogenic of 273 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Intellectual disability, autosomal dominant 34
Inborn genetic diseases

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): 0.36
gnomAD pLI: 0.67
DepMap mean gene effect: -0.1
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of CERT1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CERT1 as an antibody target. Whether an autoantibody or antibody against CERT1 could matter depends on whether native CERT1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CERT1 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.

Source-annotated serology context

The source annotations explicitly mention antibody, autoantibody, autoantigen, or autoimmune context. This is biological context, not study-specific reactivity.

Goodpasture disease is the result of an autoimmune response directed at this antigen.

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