This gene encodes a member of the CD1 family of transmembrane glycoproteins, which are structurally related to the major histocompatibility complex (MHC) proteins and form heterodimers with beta-2-microglobulin. The CD1 proteins mediate the presentation of primarily lipid and glycolipid antigens of self or microbial origin to T cells. The human genome contains five CD1 family g... See more...

Aliases for CD1A Gene

Aliases for CD1A Gene

  • CD1a Molecule 2 3 5
  • T-Cell Surface Glycoprotein CD1a 3 4
  • T-Cell Surface Antigen T6/Leu-6 3 4
  • CD1A Antigen, A Polypeptide 2 3
  • HTa1 Thymocyte Antigen 3 4
  • CD1a Antigen 2 4
  • Epidermal Dendritic Cell Marker CD1a 3
  • Differentiation Antigen CD1-Alpha-3 3
  • Cortical Thymocyte Antigen CD1A 3
  • Cluster Of Differentiation 1 A 3
  • FCB6 3
  • HTA1 3
  • CD1 3
  • R4 3
  • T6 3

External Ids for CD1A Gene

Previous HGNC Symbols for CD1A Gene

  • CD1

Previous GeneCards Identifiers for CD1A Gene

  • GC01P156016
  • GC01P153956
  • GC01P154952
  • GC01P155440
  • GC01P155038
  • GC01P156490
  • GC01P158224
  • GC01P129582

Summaries for CD1A Gene

Entrez Gene Summary for CD1A Gene

  • This gene encodes a member of the CD1 family of transmembrane glycoproteins, which are structurally related to the major histocompatibility complex (MHC) proteins and form heterodimers with beta-2-microglobulin. The CD1 proteins mediate the presentation of primarily lipid and glycolipid antigens of self or microbial origin to T cells. The human genome contains five CD1 family genes organized in a cluster on chromosome 1. The CD1 family members are thought to differ in their cellular localization and specificity for particular lipid ligands. The protein encoded by this gene localizes to the plasma membrane and to recycling vesicles of the early endocytic system. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]

GeneCards Summary for CD1A Gene

CD1A (CD1a Molecule) is a Protein Coding gene. Diseases associated with CD1A include Langerhans Cell Histiocytosis and Histiocytosis. Among its related pathways are Hematopoietic cell lineage and Class I MHC mediated antigen processing and presentation. Gene Ontology (GO) annotations related to this gene include beta-2-microglobulin binding and endogenous lipid antigen binding. An important paralog of this gene is CD1B.

UniProtKB/Swiss-Prot Summary for CD1A Gene

  • Antigen-presenting protein that binds self and non-self lipid and glycolipid antigens and presents them to T-cell receptors on natural killer T-cells.

Gene Wiki entry for CD1A Gene

Additional gene information for CD1A Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CD1A Gene

Genomics for CD1A Gene

GeneHancer (GH) Regulatory Elements for CD1A Gene

Promoters and enhancers for CD1A 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
GH01J158247 Promoter/Enhancer 1.3 EPDnew FANTOM5 ENCODE dbSUPER 500.7 +0.1 98 1.4 CBFB SRF SPI1 IKZF1 POLR2A NFIC MYC MAX IKZF2 ETV6 CD1A CD1C CD1E CD1D CD1B OR10T2 lnc-CD1B-4 HMGN1P5
GH01J158254 Promoter/Enhancer 0.5 EPDnew dbSUPER 500.4 +6.1 6076 0.1 CD1A lnc-CD1B-4 HMGN1P5
GH01J158274 Enhancer 0.7 Ensembl dbSUPER 12 +27.0 26972 1.4 IKZF1 NR2F1 TBX21 MTA2 TCF12 MLLT1 RUNX3 GATAD2B CD1A CD1E piR-33605-032 piR-61514-021
GH01J158324 Enhancer 0.7 FANTOM5 dbSUPER 10.4 +76.2 76200 0.2 IKZF1 ATF2 TBX21 JUNB NFATC1 NFIC SPI1 IKZF2 RUNX3 RELB CD1C CD1A CD1B
GH01J158271 Enhancer 0.6 Ensembl dbSUPER 12 +24.8 24772 1 JUND GATA3 FOXA1 CD1A piR-33605-032 piR-61514-021
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CD1A on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CD1A

Top Transcription factor binding sites by QIAGEN in the CD1A gene promoter:
  • ATF-2
  • Bach1
  • Brachyury
  • IRF-1
  • LCR-F1
  • MRF-2
  • POU2F1
  • POU2F1a

Genomic Locations for CD1A Gene

Genomic Locations for CD1A Gene
chr1:158,248,329-158,258,269
(GRCh38/hg38)
Size:
9,941 bases
Orientation:
Plus strand
chr1:158,223,927-158,228,059
(GRCh37/hg19)
Size:
4,133 bases
Orientation:
Plus strand

Genomic View for CD1A Gene

Genes around CD1A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CD1A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CD1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CD1A Gene

Proteins for CD1A Gene

  • Protein details for CD1A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P06126-CD1A_HUMAN
    Recommended name:
    T-cell surface glycoprotein CD1a
    Protein Accession:
    P06126
    Secondary Accessions:
    • D3DVD7
    • Q13962
    • Q5TDJ8
    • Q9UMM4
    • Q9Y5M5

    Protein attributes for CD1A Gene

    Size:
    327 amino acids
    Molecular mass:
    37077 Da
    Quaternary structure:
    • Heterodimer with B2M (beta-2-microglobulin). Interacts with CD74.
    Miscellaneous:
    • During protein synthesis and maturation, CD1 family members bind endogenous lipids that are replaced by lipid or glycolipid antigens when the proteins are internalized and pass through endosomes, before trafficking back to the cell surface.

    Three dimensional structures from OCA and Proteopedia for CD1A Gene

neXtProt entry for CD1A Gene

Post-translational modifications for CD1A Gene

  • Glycosylation at Asn37, Asn60, Asn74, and Asn145
  • Ubiquitination at Lys163 and Lys195
  • Modification sites at PhosphoSitePlus

Other Protein References for CD1A Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for CD1A

No data available for DME Specific Peptides for CD1A Gene

Domains & Families for CD1A Gene

Gene Families for CD1A Gene

HGNC:
Human Protein Atlas (HPA):
  • CD markers
  • Predicted membrane proteins

Protein Domains for CD1A Gene

Suggested Antigen Peptide Sequences for CD1A Gene

GenScript: Design optimal peptide antigens:
  • T-cell surface antigen T6/Leu-6 (CD1A_HUMAN)
  • CD1A protein (Q8N5T0_HUMAN)
genes like me logo Genes that share domains with CD1A: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CD1A Gene

Function for CD1A Gene

Molecular function for CD1A Gene

UniProtKB/Swiss-Prot Function:
Antigen-presenting protein that binds self and non-self lipid and glycolipid antigens and presents them to T-cell receptors on natural killer T-cells.
GENATLAS Biochemistry:
cell differentiation antigen CD1A (T6),49kDa,membrane glycoprotein,B2M associated,identified by monoclonal antibodies NA1/34,T6,VIT6,Leu6 (see CD1@)

Phenotypes From GWAS Catalog for CD1A Gene

Gene Ontology (GO) - Molecular Function for CD1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12833155
GO:0030883 endogenous lipid antigen binding IBA 21873635
GO:0030884 exogenous lipid antigen binding IBA 21873635
GO:0071723 lipopeptide binding IBA 21873635
genes like me logo Genes that share ontologies with CD1A: view

Phenotypes for CD1A Gene

genes like me logo Genes that share phenotypes with CD1A: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CD1A

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CD1A Gene

Localization for CD1A Gene

Subcellular locations from UniProtKB/Swiss-Prot for CD1A Gene

Cell membrane; Single-pass type I membrane protein. Membrane raft; Single-pass type I membrane protein. Endosome membrane; Single-pass type I membrane protein. Note=Subject to intracellular trafficking between the cell membrane and endosomes (PubMed:11231314). Localizes to cell surface lipid rafts (PubMed:18178838). {ECO:0000269 PubMed:11231314, ECO:0000269 PubMed:18178838}.

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 CD1A gene
Compartment Confidence
plasma membrane 5
extracellular 4
endosome 4
nucleus 3
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
cytosol 2
lysosome 2
peroxisome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for CD1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IBA 21873635
GO:0005768 endosome IEA --
GO:0005886 plasma membrane IBA,TAS --
GO:0005887 integral component of plasma membrane NAS 2447586
GO:0009897 external side of plasma membrane IBA 21873635
genes like me logo Genes that share ontologies with CD1A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CD1A Gene

Pathways & Interactions for CD1A Gene

genes like me logo Genes that share pathways with CD1A: view

Pathways by source for CD1A Gene

Interacting Proteins for CD1A Gene

;

Gene Ontology (GO) - Biological Process for CD1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001916 positive regulation of T cell mediated cytotoxicity IBA 21873635
GO:0002250 adaptive immune response IEA --
GO:0002376 immune system process IEA --
GO:0006955 immune response IBA,NAS 2447586
GO:0048006 antigen processing and presentation, endogenous lipid antigen via MHC class Ib IBA 21873635
genes like me logo Genes that share ontologies with CD1A: view

No data available for SIGNOR curated interactions for CD1A Gene

Drugs & Compounds for CD1A Gene

(6) Drugs for CD1A Gene - From: DrugBank, DGIdb, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Antithymocyte immunoglobulin (rabbit) Approved Pharma Target, inhibitor 0
Phytosphingosine Experimental Pharma 0
Sphingosine Experimental Pharma 0
antithymocyte globulin Pharma binder 0
sphinganine Pharma 0

(516) Additional Compounds for CD1A Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-Dehydrosphinganine
  • 3-dehydro-D-Sphinganine
  • 3-Ketodihydrosphingosine
  • 3-Ketosphinganine
  • (2S)-2-amino-1-Hydroxyoctadecan-3-one
  • 1-Hydroxy-2-amino-3-oxo-octadecane
16105-69-4
3-O-Sulfogalactosylceramide (d18:1/12:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
852100-88-0
3-O-Sulfogalactosylceramide (d18:1/14:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
3-O-Sulfogalactosylceramide (d18:1/16:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
862509-48-6
3-O-Sulfogalactosylceramide (d18:1/18:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
244215-65-4
genes like me logo Genes that share compounds with CD1A: view

Transcripts for CD1A Gene

mRNA/cDNA for CD1A Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CD1A

Alternative Splicing Database (ASD) splice patterns (SP) for CD1A Gene

No ASD Table

Relevant External Links for CD1A Gene

GeneLoc Exon Structure for
CD1A

Expression for CD1A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CD1A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CD1A Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x17.2), Skin - Sun Exposed (Lower leg) (x16.4), and Esophagus - Mucosa (x5.2).

Protein differential expression in normal tissues from HIPED for CD1A Gene

This gene is overexpressed in Tlymphocyte (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CD1A Gene



Protein tissue co-expression partners for CD1A Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CD1A

SOURCE GeneReport for Unigene cluster for CD1A Gene:

Hs.1309

mRNA Expression by UniProt/SwissProt for CD1A Gene:

P06126-CD1A_HUMAN
Tissue specificity: Expressed on cortical thymocytes, epidermal Langerhans cells, dendritic cells, on certain T-cell leukemias, and in various other tissues.

Evidence on tissue expression from TISSUES for CD1A Gene

  • Blood(4.5)
  • Skin(2.3)
  • Heart(2.2)
  • Lymph node(2)
genes like me logo Genes that share expression patterns with CD1A: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CD1A Gene

Orthologs for CD1A Gene

This gene was present in the common ancestor of chordates.

Orthologs for CD1A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CD1A 31 30
  • 98.31 (n)
OneToOne
cow
(Bos Taurus)
Mammalia LOC515418 30
  • 73.68 (n)
CD1A 31 31
  • 58 (a)
OneToMany
dog
(Canis familiaris)
Mammalia CD1A6 31 30
  • 72.58 (n)
OneToMany
-- 31
  • 69 (a)
OneToMany
CD1A8 31
  • 57 (a)
OneToMany
-- 31
  • 56 (a)
OneToMany
-- 31
  • 41 (a)
OneToMany
chicken
(Gallus gallus)
Aves CD1.2 31
  • 23 (a)
ManyToMany
CD1A1 31
  • 23 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 25 (a)
OneToMany
Species where no ortholog for CD1A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • mouse (Mus musculus)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for CD1A Gene

ENSEMBL:
Gene Tree for CD1A (if available)
TreeFam:
Gene Tree for CD1A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CD1A: view image

Paralogs for CD1A Gene

(6) SIMAP similar genes for CD1A Gene using alignment to 2 proteins:

  • CD1A_HUMAN
  • Q8N5T0_HUMAN
genes like me logo Genes that share paralogs with CD1A: view

Variants for CD1A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CD1A Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
712089 Likely Benign: not provided 158,256,900(+) G/A MISSENSE_VARIANT
785843 Benign: not provided 158,255,293(+) C/T MISSENSE_VARIANT
785844 Benign: not provided 158,256,783(+) C/T INTRON_VARIANT
rs2269714 - p.Thr30Ile
rs2269715 - p.Cys68Trp

Additional dbSNP identifiers (rs#s) for CD1A Gene

Structural Variations from Database of Genomic Variants (DGV) for CD1A Gene

Variant ID Type Subtype PubMed ID
nsv508626 CNV deletion 20534489
nsv515666 CNV loss 19592680
nsv831692 CNV gain 17160897
nsv999542 CNV loss 25217958

Variation tolerance for CD1A Gene

Residual Variation Intolerance Score: 75.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.39; 71.12% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CD1A Gene

Human Gene Mutation Database (HGMD)
CD1A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CD1A

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CD1A Gene

Disorders for CD1A Gene

MalaCards: The human disease database

(63) MalaCards diseases for CD1A Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
langerhans cell histiocytosis
  • letterer-siwe disease
histiocytosis
  • chronic histiocytosis x
langerhans cell sarcoma
  • malignant langerhans cell sarcoma
myofibroma
  • lipoleiomyoma
mycobacterium malmoense
  • m. malmoense
- elite association - COSMIC cancer census association via MalaCards
Search CD1A in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CD1A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CD1A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CD1A Gene

Publications for CD1A Gene

  1. Susceptibility to Guillain-Barré syndrome is not associated with CD1A and CD1E gene polymorphisms. (PMID: 18838176) Kuijf ML … Jacobs BC (Journal of neuroimmunology 2008) 3 23 41 54
  2. Polymorphisms of CD1 genes in chronic dysimmune neuropathies. (PMID: 17428545) De Angelis MV … Uncini A (Journal of neuroimmunology 2007) 3 23 41 54
  3. Susceptibility to Guillain-Barré syndrome is associated to polymorphisms of CD1 genes. (PMID: 16820217) Caporale CM … Uncini A (Journal of neuroimmunology 2006) 3 23 41 54
  4. CD1 genotyping of patients with Mycobacterium malmoense pulmonary disease. (PMID: 11580851) Jones DC … Bunce M (Tissue antigens 2001) 3 23 41 54
  5. Molecular cloning of CD1a (T6), a human epidermal dendritic cell marker related to class I MHC molecules. (PMID: 2784820) Longley J … Edelson R (The Journal of investigative dermatology 1989) 2 3 4 54

Products for CD1A Gene

Sources for CD1A Gene