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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 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 late endosomes and lysosomes via a tyrosine-based motif in the cytoplasmic tail. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]
CD1D (CD1d Molecule) is a Protein Coding gene. Diseases associated with CD1D include Mycobacterium Malmoense and Glottis Neoplasm. Among its related pathways are Hematopoietic cell lineage and Innate Immune System. Gene Ontology (GO) annotations related to this gene include cell adhesion molecule binding. An important paralog of this gene is CD1E.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 30126976 |
GO:0030881 | beta-2-microglobulin binding | TAS | 14500461 |
GO:0030882 | lipid antigen binding | IDA | 19124746 |
GO:0030883 | endogenous lipid antigen binding | IBA | 21873635 |
GO:0030884 | exogenous lipid antigen binding | IDA | 10523605 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005615 | extracellular space | IBA | 21873635 |
GO:0005737 | cytoplasm | IDA | 19124746 |
GO:0005764 | lysosome | IEA | -- |
GO:0005765 | lysosomal membrane | IEA | -- |
GO:0005768 | endosome | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Amoebiasis | ||
2 | Hematopoietic cell lineage | ||
3 | Tight junction | ||
4 | Dendritic Cells Developmental Lineage Pathway | ||
5 | Class I MHC mediated antigen processing and presentation |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001916 | positive regulation of T cell mediated cytotoxicity | IBA | 21873635 |
GO:0002376 | immune system process | IEA | -- |
GO:0006955 | immune response | IBA | 21873635 |
GO:0016045 | detection of bacterium | TAS | 14500461 |
GO:0034113 | heterotypic cell-cell adhesion | TAS | 19124746 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
cis-tetracosenoyl sulfatide | Experimental | Pharma | Target | 0 | ||
Phytosphingosine | Experimental | Pharma | 0 | |||
Sphingosine | Experimental | Pharma | 0 | |||
sphinganine | Pharma | 0 | ||||
Sphingosine-1-phosphate | Pharma | Agonist, Full agonist | endogenous second messenger and ligand for S1PR1, Endogenous agonist at S1P1-5 | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
3-Dehydrosphinganine |
|
16105-69-4 |
|
|||
3-O-Sulfogalactosylceramide (d18:1/12:0) |
|
852100-88-0 |
|
|||
3-O-Sulfogalactosylceramide (d18:1/14:0) |
|
|
||||
3-O-Sulfogalactosylceramide (d18:1/16:0) |
|
862509-48-6 |
|
|||
3-O-Sulfogalactosylceramide (d18:1/18:0) |
|
244215-65-4 |
|
ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | · | 2c | · | 2d | ^ | 3 | ^ | 4a | · | 4b | · | 4c | ^ | 5a | · | 5b | · | 5c | · | 5d | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9a | · | 9b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||||||||||||||||
SP4: | - | - | |||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | ||||||||||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||||||||||||
SP7: | - | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CD1D 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | LOC788175 30 |
|
||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
CD1D 31 |
|
OneToMany | |||
Mouse (Mus musculus) |
Mammalia | Cd1d1 30 17 31 |
|
OneToMany | |
Cd1d2 31 |
|
OneToMany | |||
Rat (Rattus norvegicus) |
Mammalia | Cd1d1 30 |
|
||
Dog (Canis familiaris) |
Mammalia | CD1D 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CD1A1 31 |
|
ManyToMany | |
CD1.2 31 |
|
ManyToMany | |||
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
724721 | Likely Benign: not provided | 158,181,538(+) | T/C | MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT | |
775613 | Benign: not provided | 158,181,583(+) | A/T | MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT | |
rs62621276 | - | p.Thr64Ser |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3578208 | CNV | loss | 25503493 |
nsv999542 | CNV | loss | 25217958 |
Disorder | Aliases | PubMed IDs |
---|---|---|
mycobacterium malmoense |
|
|
glottis neoplasm |
|
|
cerebellar vermis medulloblastoma |
|
|
langerhans cell sarcoma |
|
|
non-langerhans-cell histiocytosis |
|
|