CD1A CD1a molecule [Homo sapiens (human)] - Gene

Summary

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Official Symbol: CD1Aprovided by HGNC
Official Full Name: CD1a moleculeprovided by HGNC
Primary source: HGNC:1634
See related: Ensembl:ENSG00000158477; HPRD:01776; MIM:188370; Vega:OTTHUMG00000017512
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: R4; T6; CD1; FCB6; HTA1
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 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. Alternatively spliced transcript variants have been observed, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

Genomic context

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Location :: 1q22-q23

Sequence :: Chromosome: 1; NC_000001.10 (158223927..158228059)

See CD1A in Epigenomics, MapViewer

Chromosome 1 - NC_000001.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

these results reveal that CD1 expression is modified in MS and provide novel information on the regulation of lipid antigen presentation in myeloid cells.
Title: Alteration of CD1 expression in multiple sclerosis.
Saposins utilize two strategies for lipid transfer and CD1 antigen presentation
Title: Saposins utilize two strategies for lipid transfer and CD1 antigen presentation.
allelic variation in CD1A does not play a major role in determining multifocal motor neuropathy susceptibility.
Title: Multifocal motor neuropathy is not associated with genetic variation in PTPN22, BANK1, Blk, FCGR2B, CD1A/E, and TAG-1 genes.
In the intratumoral and peritumoral areas, the expression of CD1a, tryptase, and CD68 was significantly higher in papillary thyroid carcinoma than in thyroid adenomas.
Title: Higher intratumoral expression of CD1a, tryptase, and CD68 in a follicular variant of papillary thyroid carcinoma compared to adenomas: correlation with clinical and pathological parameters.
GM-CSF independent signaling directed toward the CD1a genome is important in Langerhans cell biology.
Title: GM-CSF-independent CD1a expression in epidermal Langerhans cells: evidence from human CD1A genome-transgenic mice.
In Guillain-Barre syndrome, an initially positive association study with polymorphism of CD1A and CD1E genes was not confirmed
Title: Polymorphism of CD1 and SH2D2A genes in inflammatory neuropathies.
CD1A and CD1E polymorphisms contribute to the polygenic susceptibility to multiple sclerosis
Title: CD1A and CD1E gene polymorphisms are associated with susceptibility to multiple sclerosis.
We do not believe that there is a role for CD1a immunohistochemistry in the differential diagnosis of perivascular epithelioid cell neoplasms.
Title: CD1a immunopositivity in perivascular epithelioid cell neoplasms: true expression or technical artifact? A streptavidin-biotin and polymer-based detection system immunohistochemical study of perivascular epithelioid cell neoplasms and their morphologic mimics.
Accumulation of CD1a-positive Langerhans cells and mast cells in actinic cheilitis.
Title: Accumulation of CD1a-positive Langerhans cells and mast cells in actinic cheilitis.
CD1E and CD1A genes may be involved in networks which determine susceptibility to multiple sclerosis types RR-MS and PP-MS, respectively.
Title: Association of CD1A +622 T/C, +737 G/C and CD1E +6129 A/G genes polymorphisms with multiple sclerosis.

Submit: New GeneRIF Correction See all (41)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

HIV-1 protein interactions

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Protein	Gene	Interaction	Pubs
Nef, p27	nef	HIV-1 Nef impairs the generation of a CD3epsilon(+)CD5(+) CD1a(+) T cell differentiation precursor stage that initiates a D-J rearrangement of the TCRbeta locus	PubMed
	nef	CD1a molecules are downregulated by and co-localized with Nef in CD1a-transfected cells; this co-localization is dependent upon the CD1a cytoplasmic tail from amino acid position 325 to 327	PubMed
Tat, p14	tat	Only the wild-type Tat induces CD1A-expressing MDDC maturation and increases the production of cytokines TNF-alpha, IL-12, MIP-1alpha, and MIP-1beta	PubMed
	tat	CD1A-expressing monocyte-derived dendritic cells (MDDC) efficiently uptake wild-type and Cys-22 Tat but not oxidized Tat	PubMed
	tat	CD4 and CD1a surface expression are greatly decreased in Tat expression Jurkat cells	PubMed

Go to the HIV-1, Human Protein Interaction Database

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
P06126	P61769	B2M	HPRD	PubMed
BioGRID:107347	BioGRID:114241	DGAT1	BioGRID	PubMed	Two-hybrid
BioGRID:107347	BioGRID:119958	KCTD5	BioGRID	PubMed	Two-hybrid
BioGRID:107347	BioGRID:116983	SIRT1	BioGRID	PubMed	Positive Genetic
BioGRID:107347	BioGRID:123073	UBTD1	BioGRID	PubMed	Two-hybrid
BioGRID:107347	BioGRID:110197	VWA5A	BioGRID	PubMed	Co-fractionation

Pathways from BioSystems

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Hematopoietic cell lineage, organism-specific biosystem (from KEGG)
Hematopoietic cell lineage, organism-specific biosystemBlood-cell development progresses from a hematopoietic stem cell (HSC), which can undergo either self-renewal or differentiation into a multilineage committed progenitor cell: a common lymphoid proge...
Hematopoietic cell lineage, conserved biosystem (from KEGG)
Hematopoietic cell lineage, conserved biosystemBlood-cell development progresses from a hematopoietic stem cell (HSC), which can undergo either self-renewal or differentiation into a multilineage committed progenitor cell: a common lymphoid proge...

General gene information

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Markers

RH120517 (e-PCR)
- UniSTS:133682

D1S3258 (e-PCR)
- UniSTS:41819

RH11438 (e-PCR)
- UniSTS:48869

Homology

Homologs of the CD1A gene: The CD1A gene is conserved in chimpanzee, Rhesus monkey, dog, and cow.
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
antigen processing and presentation	IEA Inferred from Electronic Annotation more info
immune response	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
MHC class I protein complex	IEA Inferred from Electronic Annotation more info
endosome membrane	IEA Inferred from Electronic Annotation more info
integral to plasma membrane	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: T-cell surface glycoprotein CD1a

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

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001763.2 → NP_001754.2 T-cell surface glycoprotein CD1a precursor

Status: REVIEWED

Source sequence(s)

AL121986, CA432941, DB108750, M28825

Consensus CDS

CCDS1174.1

UniProtKB/Swiss-Prot

P06126

Related

ENSP00000289429, OTTHUMP00000018907, ENST00000289429, OTTHUMT00000046349

Conserved Domains (2) summary

cd07698
Location:202 – 295
Blast Score: 264

IgC_MHC_I_alpha3; Class I major histocompatibility complex (MHC) alpha chain immunoglobulin domain

pfam00129
Location:47 – 198
Blast Score: 98

MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000001.10 Reference GRCh37.p10 Primary Assembly

Range

158223927..158228059

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000133.1 Alternate HuRef

Range

129582004..129586118

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018912.1 Alternate CHM1_1.0

Range

164723155..164727287

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01016629.1 (92919..97033)	None
genomic	AF142665.1	AAD37578.1
genomic	AL121986.12 (552..4684)	None
genomic	AMYH01001443.1 (1011279..1015411)	None
genomic	CH471121.2	EAW52843.1
		EAW52844.1
genomic	M14663.1	AAA51934.1
genomic	M22080.1	AAA51932.1
genomic	M22163.1	AAA51932.1
genomic	M22164.1	AAA51932.1
genomic	M22165.1	AAA51932.1
genomic	M22166.1	AAA51932.1
genomic	M22167.1	AAA51932.1
mRNA	AK312945.1	BAG35786.1
mRNA	BC031645.1	AAH31645.1
mRNA	CA432941.1	None
mRNA	DB108750.1	None
mRNA	M27735.1	AAA51933.1
mRNA	M28825.1	AAA51931.1
mRNA	X04450.1	CAA28049.1
other-genetic	DQ891346.2	ABM82272.1
other-genetic	DQ894526.2	ABM85452.1