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 variant... See more...

Aliases for CERT1 Gene

Aliases for CERT1 Gene

  • Ceramide Transporter 1 2 3 5
  • STARD11 2 3 4
  • CERT 2 3 4
  • GPBP 2 3 4
  • Collagen, Type IV, Alpha 3 (Goodpasture Antigen) Binding Protein 2 3
  • StAR-Related Lipid Transfer (START) Domain Containing 11 2 3
  • Collagen Type IV Alpha 3 Binding Protein 2 3
  • Ceramide Transfer Protein 3 4
  • COL4A3BP 3 4
  • Collagen Type IV Alpha-3-Binding Protein 4
  • StAR-Related Lipid Transfer Protein 11 4
  • Goodpasture Antigen-Binding Protein 4
  • START Domain-Containing Protein 11 4
  • Lipid-Transfer Protein CERTL 3
  • Ceramide Transporter 2
  • StARD11 4
  • CERTL 3
  • MRD34 3
  • CERT1 5
  • HCERT 4

External Ids for CERT1 Gene

Previous HGNC Symbols for CERT1 Gene

  • COL4A3BP

Summaries for CERT1 Gene

Entrez Gene Summary for CERT1 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]

GeneCards Summary for CERT1 Gene

CERT1 (Ceramide Transporter 1) is a Protein Coding gene. Diseases associated with CERT1 include Mental Retardation, Autosomal Dominant 34 and Goodpasture Syndrome. Among its related pathways are Sphingolipid metabolism and Metabolism. An important paralog of this gene is PLEKHA8.

UniProtKB/Swiss-Prot Summary for CERT1 Gene

  • Shelters ceramides and diacylglycerol lipids inside its START domain and mediates the intracellular trafficking of ceramides and diacylglycerol lipids in a non-vesicular manner.

Gene Wiki entry for CERT1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CERT1 Gene

Genomics for CERT1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CERT1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J075509 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 261.5 +0.5 533 6 SP1 ZNF207 ZNF600 IKZF1 SIX5 ZNF580 ZNF592 ATF2 POLR2A CEBPA CERT1 POLK HSALNG0042738 GCNT4 POC5 piR-38352-448 HMGCR
GH05J075610 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 11 -102.4 -102389 8.5 NCOR1 IKZF1 ATF2 POLR2A NFIC ZIC2 FEZF1 MNT KLF7 CTBP1 ANKDD1B POC5 ENSG00000242198 GCNT4 CERT1 lnc-POC5-4 lnc-ANKDD1B-1 MG828668-090
GH05J075565 Enhancer 1.3 FANTOM5 Ensembl ENCODE 12.2 -54.9 -54863 4.8 BCLAF1 NCOR1 IKZF1 JUND ZNF592 ATF3 ZIC2 BCL11A REST CEBPB piR-61240-223 POC5 CERT1 ENSG00000242198 ANKRD31 POLK HSALNG0042739 ANKDD1B HSALNG0042738
GH05J075620 Enhancer 0.9 Ensembl ENCODE 11 -108.6 -108593 1.5 NCOR1 NFIC YY1 FOXA2 RXRA TAL1 STAT5A EHMT2 FOXM1 HDAC2 CERT1 POC5 GCNT4 ANKDD1B lnc-POC5-4 MG828668-090
GH05J075622 Enhancer 0.6 Ensembl ENCODE 10.8 -111.3 -111334 2.6 JUND RXRA HNF4A MAX SP1 CERT1 POC5 GCNT4 lnc-POC5-4 ANKDD1B MG828668-090
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CERT1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CERT1

Genomic Locations for CERT1 Gene

Latest Assembly
chr5:75,356,345-75,512,138
(GRCh38/hg38)
Size:
155,794 bases
Orientation:
Minus strand

Previous Assembly
chr5:74,664,311-74,807,806
(GRCh37/hg19 by Entrez Gene)
Size:
143,496 bases
Orientation:
Minus strand

chr5:74,664,311-74,807,963
(GRCh37/hg19 by Ensembl)
Size:
143,653 bases
Orientation:
Minus strand

Genomic View for CERT1 Gene

Genes around CERT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CERT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CERT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CERT1 Gene

Proteins for CERT1 Gene

  • Protein details for CERT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y5P4-CERT_HUMAN
    Recommended name:
    Ceramide transfer protein
    Protein Accession:
    Q9Y5P4
    Secondary Accessions:
    • A8K7S2
    • B3KUB7
    • Q53YV1
    • Q53YV2
    • Q96Q85
    • Q96Q88
    • Q9H2S7
    • Q9H2S8

    Protein attributes for CERT1 Gene

    Size:
    624 amino acids
    Molecular mass:
    70835 Da
    Quaternary structure:
    • Interacts with VAPA and VAPB. Interaction with VAPB is less efficient than with VAPA (PubMed:16895911). Interacts (via FFAT motif) with MOSPD2 (via MSP domain) (PubMed:29858488).

    Three dimensional structures from OCA and Proteopedia for CERT1 Gene

    Alternative splice isoforms for CERT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CERT1 Gene

Post-translational modifications for CERT1 Gene

  • Phosphorylation on Ser-132 decreases the affinity toward phosphatidylinositol 4-phosphate at Golgi membranes and reduces ceramide transfer activity. Inactivated by hyperphosphorylation of serine residues by CSNK1G2/CK1 that triggers dissociation from the Golgi complex, thus down-regulating ER-to-Golgi transport of ceramide and sphingomyelin synthesis.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CERT1 Gene

Domains & Families for CERT1 Gene

Gene Families for CERT1 Gene

Protein Domains for CERT1 Gene

InterPro:
Blocks:
  • Lipid-binding START
  • Pleckstrin-like

Suggested Antigen Peptide Sequences for CERT1 Gene

GenScript: Design optimal peptide antigens:
  • StAR-related lipid transfer protein 11 (C43BP_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y5P4

UniProtKB/Swiss-Prot:

CERT_HUMAN :
  • The START domain recognizes ceramides and diacylglycerol lipids, interacts with membranes, and mediates the intermembrane transfer of ceramides and diacylglycerol lipids.
Domain:
  • The START domain recognizes ceramides and diacylglycerol lipids, interacts with membranes, and mediates the intermembrane transfer of ceramides and diacylglycerol lipids.
  • The PH domain targets the Golgi apparatus.
  • The FFAT motif is required for interaction with VAPA, VAPB and MOSPD2.
genes like me logo Genes that share domains with CERT1: view

Function for CERT1 Gene

Molecular function for CERT1 Gene

UniProtKB/Swiss-Prot Function:
Shelters ceramides and diacylglycerol lipids inside its START domain and mediates the intracellular trafficking of ceramides and diacylglycerol lipids in a non-vesicular manner.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=N-hexadecanoylsphing-4-enine(in) = N-hexadecanoylsphing-4-enine(out); Xref=Rhea:RHEA:45720, ChEBI:CHEBI:72959; Evidence={ECO:0000250|UniProtKB:Q6VVX2};.

Phenotypes From GWAS Catalog for CERT1 Gene

Gene Ontology (GO) - Molecular Function for CERT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 10212244
GO:0008289 lipid binding IEA --
GO:0016301 kinase activity IEA --
GO:0042802 identical protein binding IPI --
GO:0070273 phosphatidylinositol-4-phosphate binding IDA,IBA 21873635
genes like me logo Genes that share ontologies with CERT1: view
genes like me logo Genes that share phenotypes with CERT1: view

Human Phenotype Ontology for CERT1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CERT1 Gene

MGI Knock Outs for CERT1:
  • Cert1 Cert1<tm1a(KOMP)Wtsi>

miRNA for CERT1 Gene

miRTarBase miRNAs that target CERT1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CERT1

Clone products for research

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CERT1 Gene

Localization for CERT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CERT1 Gene

Cytoplasm. Golgi apparatus. Endoplasmic reticulum. Note=Preferentially localized to the Golgi apparatus. {ECO:0000305 PubMed:16895911}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CERT1 gene
Compartment Confidence
nucleus 5
golgi apparatus 5
cytosol 4
mitochondrion 3
plasma membrane 2
extracellular 2
cytoskeleton 2
endoplasmic reticulum 2
endosome 2
lysosome 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (4)
  • Nucleoplasm (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CERT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005581 collagen trimer IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA --
GO:0005783 endoplasmic reticulum IEA --
genes like me logo Genes that share ontologies with CERT1: view

Pathways & Interactions for CERT1 Gene

PathCards logo

SuperPathways for CERT1 Gene

SuperPathway Contained pathways
1 Metabolism
2 Sphingolipid metabolism
3 Cholesterol and Sphingolipids transport / Transport from Golgi and ER to the apical membrane (normal and CF)
-
genes like me logo Genes that share pathways with CERT1: view

Pathways by source for CERT1 Gene

1 GeneGo (Thomson Reuters) pathway for CERT1 Gene
  • Cholesterol and Sphingolipids transport / Transport from Golgi and ER to the apical membrane (normal and CF)

SIGNOR curated interactions for CERT1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for CERT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000902 cell morphogenesis IEA --
GO:0001701 in utero embryonic development IEA --
GO:0003007 heart morphogenesis IEA --
GO:0006672 ceramide metabolic process IEA --
GO:0006869 lipid transport IEA --
genes like me logo Genes that share ontologies with CERT1: view

Drugs & Compounds for CERT1 Gene

(3) Drugs for CERT1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ceramide NG Experimental Pharma 0

(104) Additional Compounds for CERT1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-O-Sulfogalactosylceramide (d18:1/12:0)
  • 3-O-Sulphogalactosylceramide (D18:1/12:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
852100-88-0
3-O-Sulfogalactosylceramide (d18:1/14:0)
  • 3-O-Sulphogalactosylceramide (D18:1/14:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
3-O-Sulfogalactosylceramide (d18:1/16:0)
  • 3-O-Sulphogalactosylceramide (D18:1/16:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
862509-48-6
3-O-Sulfogalactosylceramide (d18:1/18:0)
  • 3-O-Sulphogalactosylceramide (D18:1/18:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
244215-65-4
3-O-Sulfogalactosylceramide (d18:1/18:1(9Z))
  • 3-O-Sulphogalactosylceramide (D18:1/18:1(9Z))
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
genes like me logo Genes that share compounds with CERT1: view

Transcripts for CERT1 Gene

mRNA/cDNA for CERT1 Gene

7 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
29 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CERT1

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for CERT1 Gene

No ASD Table

Relevant External Links for CERT1 Gene

GeneLoc Exon Structure for
CERT1

Expression for CERT1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CERT1

SOURCE GeneReport for Unigene cluster for CERT1 Gene:

Hs.270437

mRNA Expression by UniProt/SwissProt for CERT1 Gene:

Q9Y5P4-CERT_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for CERT1 Gene

  • Liver(4.4)
  • Lung(4.4)
  • Nervous system(3.6)
  • Muscle(2.5)
  • Skin(2.4)
  • Heart(2.3)
  • Kidney(2.3)
  • Spleen(2.1)
  • Intestine(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CERT1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • salivary gland
  • skull
  • tooth
Thorax:
  • breast
  • chest wall
Abdomen:
  • abdominal wall
Pelvis:
  • placenta
  • uterus
Limb:
  • foot
  • lower limb
  • toe
General:
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin

Primer products for research

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for CERT1 Gene

Orthologs for CERT1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CERT1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia COL4A3BP 29 30
  • 99.87 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia COL4A3BP 30
  • 95 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia COL4A3BP 30
  • 95 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia COL4A3BP 29 30
  • 93.11 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia COL4A3BP 29 30
  • 92.97 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Col4a3bp 29 30
  • 90.6 (n)
OneToOne
Cert1 16
Rat
(Rattus norvegicus)
Mammalia Col4a3bp 29
  • 90.44 (n)
Chicken
(Gallus gallus)
Aves COL4A3BP 29 30
  • 86.49 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia COL4A3BP 30
  • 95 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia col4a3bp 29
  • 78.82 (n)
col4a3bp-prov 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.12848 29
Zebrafish
(Danio rerio)
Actinopterygii COL4A3BP (2 of 2) 30
  • 85 (a)
OneToMany
col4a3bpa 30
  • 77 (a)
OneToMany
LOC797430 29
  • 73.08 (n)
Dr.16824 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007093 29
  • 51.95 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta cert 29 30
  • 51.6 (n)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea F25H2.6 29 30
  • 47.47 (n)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 48 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.1898 29
Species where no ortholog for CERT1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for CERT1 Gene

ENSEMBL:
Gene Tree for CERT1 (if available)
TreeFam:
Gene Tree for CERT1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CERT1: view image
Alliance of Genome Resources:
Additional Orthologs for CERT1

Paralogs for CERT1 Gene

Paralogs for CERT1 Gene

genes like me logo Genes that share paralogs with CERT1: view

Variants for CERT1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CERT1 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
1025281 Uncertain Significance: not provided 75,416,952(-) C/T
NM_001379029.1(CERT1):c.761G>A (p.Gly254Glu)
MISSENSE
871778 Uncertain Significance: not provided 75,389,663(-) T/C
NM_001130105.1(CERT1):c.1597A>G (p.Met533Val)
MISSENSE
871779 Uncertain Significance: not provided 75,511,407(-) A/G
NM_001130105.1(CERT1):c.185T>C (p.Val62Ala)
MISSENSE_VARIANT,FIVE_PRIME_UTR
871780 Uncertain Significance: not provided 75,511,420(-) G/C
NM_001130105.1(CERT1):c.172C>G (p.Pro58Ala)
MISSENSE_VARIANT,FIVE_PRIME_UTR
916272 Uncertain Significance: not provided 75,511,447(-) C/A
NM_001379029.1(CERT1):c.-240G>T
MISSENSE_VARIANT,FIVE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CERT1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CERT1 Gene

Variant ID Type Subtype PubMed ID
esv1293475 CNV insertion 17803354
esv1729448 CNV insertion 17803354
esv2621701 CNV deletion 19546169
esv2678661 CNV deletion 23128226
esv2730313 CNV deletion 23290073
esv2730314 CNV deletion 23290073
esv3575856 CNV gain 25503493
esv3605444 CNV loss 21293372
esv3605445 CNV loss 21293372
esv3605446 CNV loss 21293372
nsv1116549 OTHER inversion 24896259
nsv1133360 CNV tandem duplication 24896259
nsv329298 CNV insertion 16902084
nsv329892 CNV deletion 16902084
nsv475714 CNV novel sequence insertion 20440878
nsv980685 CNV duplication 23825009

Variation tolerance for CERT1 Gene

Residual Variation Intolerance Score: 16.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.09; 38.13% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CERT1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CERT1
Leiden Open Variation Database (LOVD)
CERT1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CERT1 Gene

Disorders for CERT1 Gene

MalaCards: The human disease database

(14) MalaCards diseases for CERT1 Gene - From: OMI, CVR, GTR, SWI, COP, and GCD

Disorder Aliases PubMed IDs
mental retardation, autosomal dominant 34
  • mrd34
goodpasture syndrome
  • anti-gbm disease
autosomal recessive alport syndrome
  • alport syndrome autosomal recessive
autism spectrum disorder
  • asd
chlamydia
  • chlamydia trachomatis infectious disease
- elite association - COSMIC cancer census association via MalaCards
Search CERT1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CERT_HUMAN
  • Mental retardation, autosomal dominant 34 (MRD34) [MIM:616351]: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269 PubMed:25356899, ECO:0000269 PubMed:25533962}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for CERT1

genes like me logo Genes that share disorders with CERT1: view

No data available for Genatlas for CERT1 Gene

Publications for CERT1 Gene

  1. Molecular machinery for non-vesicular trafficking of ceramide. (PMID: 14685229) Hanada K … Nishijima M (Nature 2003) 2 3 4 22
  2. Characterization of a novel type of serine/threonine kinase that specifically phosphorylates the human goodpasture antigen. (PMID: 10212244) Raya A … Saus J (The Journal of biological chemistry 1999) 2 3 4 22
  3. Goodpasture antigen-binding protein, the kinase that phosphorylates the goodpasture antigen, is an alternatively spliced variant implicated in autoimmune pathogenesis. (PMID: 11007769) Raya A … Saus J (The Journal of biological chemistry 2000) 3 4 22
  4. Identification of MOSPD2, a novel scaffold for endoplasmic reticulum membrane contact sites. (PMID: 29858488) Di Mattia T … Alpy F (EMBO reports 2018) 3 4
  5. Crystal structures of the CERT START domain with inhibitors provide insights into the mechanism of ceramide transfer. (PMID: 20036255) Kudo N … Kato R (Journal of molecular biology 2010) 3 4

Products for CERT1 Gene

Sources for CERT1 Gene