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Gene id

909

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

CD1A Gene UCSC Ensembl

Aliases

CD1, FCB6, HTA1, R4, T6

Gene name

CD1a molecule

Alternate names

T-cell surface glycoprotein CD1a, CD1A antigen, a polypeptide, T-cell surface antigen T6/Leu-6, cluster of differentiation 1 A, cortical thymocyte antigen CD1A, differentiation antigen CD1-alpha-3, epidermal dendritic cell marker CD1a, hTa1 thymocyte antigen,

Gene location

1q23.1 (68560359: 68700793) Exons: 20 NC_000010.11

Gene summary(Entrez)

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]

OMIM

188370

Protein Summary

Protein general information

P06126

Name: T-cell surface glycoprotein CD1a (T-cell surface antigen T6/Leu-6) (hTa1 thymocyte antigen) (CD antigen CD1a)

Length: 327 Mass: 37,077

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

Sequence

MLFLLLPLLAVLPGDGNADGLKEPLSFHVTWIASFYNHSWKQNLVSGWLSDLQTHTWDSNSSTIVFLCPWSRGNF
SNEEWKELETLFRIRTIRSFEGIRRYAHELQFEYPFEIQVTGGCELHSGKVSGSFLQLAYQGSDFVSFQNNSWLP
YPVAGNMAKHFCKVLNQNQHENDITHNLLSDTCPRFILGLLDAGKAHLQRQVKPEAWLSHGPSPGPGHLQLVCHV
SGFYPKPVWVMWMRGEQEQQGTQRGDILPSADGTWYLRATLEVAAGEAADLSCRVKHSSLEGQDIVLYWEHHSSV
GFIILAVIVPLLLLIGLALWFRKRCFC

Structural information

Protein Domains	Ig-like. (184-291)
Interpro:	IPR007110 IPR036179 IPR013783 IPR003597 IPR011161 IPR037055 IPR011162
Prosite:	PS50835
Pfam:	PF07654 PF16497
PDB:	1ONQ 1XZ0 4X6C 4X6D 4X6E 4X6F 5J1A
PDBsum:	1ONQ 1XZ0 4X6C 4X6D 4X6E 4X6F 5J1A
STRING:	ENSP00000289429;

Other Databases

GeneCards: CD1A; Malacards: CD1A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0002250	adaptive immune response	IEA	biological_process
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005886	plasma membrane	IBA	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005887	integral component of pla sma membrane	NAS	cellular_component
GO:0006955	immune response	NAS	biological_process
GO:0010008	endosome membrane	IEA	cellular_component
GO:0030881	beta-2-microglobulin bind ing	IBA	molecular_function
GO:0030883	endogenous lipid antigen binding	IBA	molecular_function
GO:0030884	exogenous lipid antigen b inding	IBA	molecular_function
GO:0045121	membrane raft	IEA	cellular_component
GO:0048007	antigen processing and pr esentation, exogenous lip id antigen via MHC class Ib	IBA	biological_process
GO:0050776	regulation of immune resp onse	TAS	biological_process
GO:0071723	lipopeptide binding	IBA	molecular_function
GO:0002250	adaptive immune response	IEA	biological_process
GO:0002376	immune system process	IEA	biological_process
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005768	endosome	IEA	cellular_component
GO:0005886	plasma membrane	IBA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005887	integral component of pla sma membrane	NAS	cellular_component
GO:0006955	immune response	IEA	biological_process
GO:0006955	immune response	NAS	biological_process
GO:0010008	endosome membrane	IEA	cellular_component
GO:0016020	membrane	IEA	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0030881	beta-2-microglobulin bind ing	IBA	molecular_function
GO:0030883	endogenous lipid antigen binding	IBA	molecular_function
GO:0030884	exogenous lipid antigen b inding	IBA	molecular_function
GO:0045121	membrane raft	IEA	cellular_component
GO:0048007	antigen processing and pr esentation, exogenous lip id antigen via MHC class Ib	IBA	biological_process
GO:0050776	regulation of immune resp onse	TAS	biological_process
GO:0071723	lipopeptide binding	IBA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005886	plasma membrane	IBA	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005887	integral component of pla sma membrane	NAS	cellular_component
GO:0006955	immune response	NAS	biological_process
GO:0030881	beta-2-microglobulin bind ing	IBA	molecular_function
GO:0030883	endogenous lipid antigen binding	IBA	molecular_function
GO:0030884	exogenous lipid antigen b inding	IBA	molecular_function
GO:0048007	antigen processing and pr esentation, exogenous lip id antigen via MHC class Ib	IBA	biological_process
GO:0050776	regulation of immune resp onse	TAS	biological_process
GO:0071723	lipopeptide binding	IBA	molecular_function

KEGG pathways

hsa04640 Hematopoietic cell lineage
hsa04530 Tight junction

Diseases

Associated diseases	References
Multiple sclerosis	GAD20954848
Guillain-Barre Syndrome	GAD18838176
Guillain-Barre syndrome	GAD16820217
Chronic obstructive pulmonary disease (COPD)	GAD11580851
Endometriosis	PubMed19321495

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
19321495	Endometrio sis			61(33 women wit h endometriosis , 28 without en dometriosis )		CD83	Show abstract