Gene Gene information from NCBI Gene database.
Entrez ID 912
Gene name CD1d molecule
Gene symbol CD1D
Synonyms (NCBI Gene)
CD1AR3R3G1
Chromosome 1
Chromosome location 1q23.1
Summary This gene encodes a divergent 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 pres
miRNA miRNA information provided by mirtarbase database.
204
miRTarBase ID miRNA Experiments Reference
MIRT019031 hsa-miR-335-5p Microarray 18185580
MIRT646054 hsa-miR-124-3p HITS-CLIP 23824327
MIRT646057 hsa-miR-3714 HITS-CLIP 23824327
MIRT646056 hsa-miR-3910 HITS-CLIP 23824327
MIRT646055 hsa-miR-3120-3p HITS-CLIP 23824327
Transcription factors Transcription factors information provided by TRRUST V2 database.
5
Transcription factor Regulation Reference
HDAC1 Repression 22419072
HDAC2 Repression 22419072
LEF1 Repression 20363964
LEF1 Unknown 15100293
SP1 Activation 22419072
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
36
GO ID Ontology Definition Evidence Reference
GO:0001916 Process Positive regulation of T cell mediated cytotoxicity IBA
GO:0002376 Process Immune system process IEA
GO:0005515 Function Protein binding IPI 30126976
GO:0005615 Component Extracellular space IBA
GO:0005737 Component Cytoplasm IDA 19124746
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
188410 1637 ENSG00000158473
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P15813
Protein name Antigen-presenting glycoprotein CD1d (R3G1) (CD antigen CD1d)
Protein function Antigen-presenting protein that binds self and non-self glycolipids and presents them to T-cell receptors on natural killer T-cells.
PDB 1ZT4 , 2PO6 , 3HUJ , 3SDX , 3TZV , 3U0P , 3VWJ , 3VWK , 4EN3 , 4LHU , 4MNG , 4MQ7 , 4WO4 , 4WW2 , 4WWK , 6V7Y , 6V7Z , 6V80 , 8SGB , 8SGM , 8SOS
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16497 MHC_I_3 1 198 MHC-I family domain Domain
PF07654 C1-set 209 286 Immunoglobulin C1-set domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed on cortical thymocytes, on certain T-cell leukemias, and in various other tissues.
Sequence
Sequence length 335
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Tight junction
Hematopoietic cell lineage
Amoebiasis
  Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Abetalipoproteinemia Abetalipoproteinemia Pubtator 20592474 Associate
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 23049754
★☆☆☆☆
Found in Text Mining only
Adrenoleukodystrophy Adrenoleukodystrophy BEFREE 22253809
★☆☆☆☆
Found in Text Mining only
Adrenoleukodystrophy Adrenoleukodystrophy Pubtator 22253809 Associate
★☆☆☆☆
Found in Text Mining only
Adrenomyeloneuropathy Adrenomyeloneuropathy BEFREE 22253809
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma BEFREE 23891738, 25115738
★☆☆☆☆
Found in Text Mining only
Amyloidosis cutis dyschromia Amyloidosis Cutis Dyschromia BEFREE 23171451
★☆☆☆☆
Found in Text Mining only
Anaplastic carcinoma Anaplastic Carcinoma BEFREE 31560833
★☆☆☆☆
Found in Text Mining only
Anaplastic thyroid carcinoma Anaplastic thyroid cancer BEFREE 31560833
★☆☆☆☆
Found in Text Mining only
Antiphospholipid Syndrome Antiphospholipid Syndrome BEFREE 21682789
★☆☆☆☆
Found in Text Mining only