CD1A (CD1a molecule)

Gene

• Entrez ID: 909
• Gene name: CD1a molecule
• Gene symbol: CD1A
• Synonyms (NCBI Gene): CD1, FCB6, HTA1, R4, T6
• Chromosome: 1
• Chromosome location: 1q23.1
• Summary: 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 o

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT874008	hsa-miR-3973	CLIP-seq
MIRT874009	hsa-miR-4766-3p	CLIP-seq
MIRT874010	hsa-miR-548k	CLIP-seq
MIRT874011	hsa-miR-548p	CLIP-seq
MIRT1959196	hsa-miR-31	CLIP-seq
MIRT1959197	hsa-miR-3125	CLIP-seq
MIRT1959198	hsa-miR-3150b-3p	CLIP-seq
MIRT1959199	hsa-miR-3916	CLIP-seq
MIRT874008	hsa-miR-3973	CLIP-seq
MIRT1959200	hsa-miR-4689	CLIP-seq
MIRT1959201	hsa-miR-4742-5p	CLIP-seq
MIRT874009	hsa-miR-4766-3p	CLIP-seq
MIRT1959202	hsa-miR-4784	CLIP-seq
MIRT1959203	hsa-miR-516b	CLIP-seq
MIRT874010	hsa-miR-548k	CLIP-seq
MIRT874011	hsa-miR-548p	CLIP-seq
MIRT1959196	hsa-miR-31	CLIP-seq
MIRT1959201	hsa-miR-4742-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001916	Process	Positive regulation of T cell mediated cytotoxicity	IBA
GO:0002250	Process	Adaptive immune response	IEA
GO:0002376	Process	Immune system process	IEA
GO:0005515	Function	Protein binding	IPI	12833155, 15723809
GO:0005615	Component	Extracellular space	IBA
GO:0005768	Component	Endosome	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	NAS	2447586
GO:0005886	Component	Plasma membrane	TAS
GO:0006955	Process	Immune response	IBA
GO:0006955	Process	Immune response	NAS	2447586
GO:0009897	Component	External side of plasma membrane	IBA
GO:0010008	Component	Endosome membrane	IEA
GO:0016020	Component	Membrane	IEA
GO:0030883	Function	Endogenous lipid antigen binding	IBA
GO:0030884	Function	Exogenous lipid antigen binding	IBA
GO:0045121	Component	Membrane raft	IEA
GO:0048006	Process	Antigen processing and presentation, endogenous lipid antigen via MHC class Ib	IBA
GO:0048007	Process	Antigen processing and presentation, exogenous lipid antigen via MHC class Ib	IBA
GO:0071723	Function	Lipopeptide binding	IBA

Other IDs

• MIM: 188370
• HGNC: 1634
• e!Ensembl: ENSG00000158477

Protein

• UniProt ID: P06126
• Protein name: T-cell surface glycoprotein CD1a (T-cell surface antigen T6/Leu-6) (hTa1 thymocyte antigen) (CD antigen CD1a)
• Protein 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.
• PDB: 1ONQ, 1XZ0, 4X6C, 4X6D, 4X6E, 4X6F, 5J1A, 6NUX, 7KOZ, 7KP0, 7KP1, 7RYM, 7RYN, 7RYO, 7SH4
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF16497	MHC_I_3	1 → 197	MHC-I family domain	Domain
  PF07654	C1-set	208 → 285	Immunoglobulin C1-set domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed on cortical thymocytes, epidermal Langerhans cells, dendritic cells, on certain T-cell leukemias, and in various other tissues. {ECO:0000269|PubMed:11231314, ECO:0000269|PubMed:18178838}.
• Sequence:

  MLFLLLPLLAVLPGDGNADGLKEPLSFHVTWIASFYNHSWKQNLVSGWLSDLQTHTWDSN
  SSTIVFLCPWSRGNFSNEEWKELETLFRIRTIRSFEGIRRYAHELQFEYPFEIQVTGGCE
  LHSGKVSGSFLQLAYQGSDFVSFQNNSWLPYPVAGNMAKHFCKVLNQNQHENDITHNLLS
  DTCPRFILGLLDAGKAHLQRQVKPEAWLSHGPSPGPGHLQLVCHVSGFYPKPVWVMWMRG
  EQEQQGTQRGDILPSADGTWYLRATLEVAAGEAADLSCRVKHSSLEGQDIVLYWEHHSSV
  GFIILAVIVPLLLLIGLALWFRKRCFC

• Sequence length: 327

Pathways

KEGG:

Tight junction
Hematopoietic cell lineage
Amoebiasis

Reactome:

Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell

Associated diseases

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
Phenotype Name	Clinical Significance	Source	Evidence Score
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations