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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 late endosomes and lysosomes via a tyrosine-based motif in the cytoplasmic tail, and requires vesicular acidification to bind lipid antigens. [provided by RefSeq, Jul 2008]
CD1B (CD1b Molecule) is a Protein Coding gene. Diseases associated with CD1B include Mycobacterium Malmoense and Non-Langerhans-Cell Histiocytosis. Among its related pathways are Hematopoietic cell lineage and Innate Immune System. Gene Ontology (GO) annotations related to this gene include beta-2-microglobulin binding and endogenous lipid antigen binding. An important paralog of this gene is CD1C.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH01J158332 | Promoter/Enhancer | 0.5 | Ensembl dbSUPER | 600.7 | -1.0 | -970 | 1 | CD1B piR-33422-023 CD1E | ||
GH01J158331 | Promoter/Enhancer | 0.5 | EPDnew dbSUPER | 600.7 | 0.0 | -20 | 0.1 | CD1B piR-33422-023 CD1E | ||
GH01J158283 | Promoter/Enhancer | 1.9 | EPDnew FANTOM5 Ensembl ENCODE dbSUPER | 10.1 | +43.1 | 43081 | 9.2 | CREB1 POLR2A BACH1 STAT3 ZNF143 RELA TCF12 IKZF2 TRIM22 PKNOX1 | CD1C CD1B CD1E piR-33605-032 CD1A | |
GH01J158247 | Promoter/Enhancer | 1.3 | EPDnew FANTOM5 ENCODE dbSUPER | 3.8 | +83.1 | 83104 | 1.4 | IKZF2 SCRT2 EED RELB RUNX3 CBFB IKZF1 SPI1 POLR2A MYC | CD1A CD1C CD1E CD1D CD1B OR10T2 lnc-CD1B-4 HMGN1P5 | |
GH01J158284 | Promoter/Enhancer | 0.5 | Ensembl dbSUPER | 10.1 | +48.2 | 48230 | 0.2 | CD1B piR-33605-032 CD1C CD1A |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 12118248 |
GO:0030883 | endogenous lipid antigen binding | IBA | 21873635 |
GO:0030884 | exogenous lipid antigen binding | IBA | 21873635 |
GO:0071723 | lipopeptide binding | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005615 | extracellular space | IBA | 21873635 |
GO:0005764 | lysosome | IEA | -- |
GO:0005765 | lysosomal membrane | IEA | -- |
GO:0005768 | endosome | IEA | -- |
GO:0005886 | plasma membrane | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Amoebiasis | ||
2 | Hematopoietic cell lineage | ||
3 | Tight junction | ||
4 | Class I MHC mediated antigen processing and presentation | ||
5 | Innate Immune System |
.61
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001916 | positive regulation of T cell mediated cytotoxicity | IBA | 21873635 |
GO:0002250 | adaptive immune response | IEA | -- |
GO:0002376 | immune system process | IEA | -- |
GO:0006955 | immune response | IBA | 21873635 |
GO:0048006 | antigen processing and presentation, endogenous lipid antigen via MHC class Ib | IBA | 21873635 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
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: | 1 | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | · | 4c | ^ | 5 | ^ | 6 | ^ | 7 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||
SP2: | |||||||||||||||||
SP3: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CD1B 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CD1B5 30 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
CD1B3 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Dog (Canis familiaris) |
Mammalia | CD1B 30 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 |
---|---|---|---|---|---|
709334 | Likely Benign: not provided | 158,292,833(-) | G/C | MISSENSE_VARIANT | |
716049 | Benign: not provided | 158,293,276(-) | C/A | SYNONYMOUS_VARIANT | |
732731 | Likely Benign: not provided | 158,292,829(-) | G/T | MISSENSE_VARIANT | |
770494 | Benign: not provided | 158,330,814(-) | C/T | MISSENSE_VARIANT | |
773640 | Benign: not provided | 158,293,221(-) | T/C | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
mycobacterium malmoense |
|
|
non-langerhans-cell histiocytosis |
|
|
langerhans cell sarcoma |
|
|
histiocytic and dendritic cell cancer |
|
|
reticulohistiocytic granuloma |
|
|