CD1B
CD1b molecule
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 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]
Known Variants24 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3138103 | 1:158,262,459 | C/T | synonymous variant | — |
| rs183570192 | 1:158,263,405 | A/G | 3 prime UTR variant | — |
| rs145881318 | 1:158,298,039 | T/C | — | uncertain significance |
| rs370087365 | 1:158,298,040 | G/C | — | uncertain significance |
| rs200467928 | 1:158,298,712 | G/A | — | likely benign |
| rs199680462 | 1:158,298,780 | A/G | — | uncertain significance |
| rs562762923 | 1:158,298,793 | A/G | — | uncertain significance |
| rs753768677 | 1:158,299,207 | C/T | — | uncertain significance |
| rs757186787 | 1:158,299,208 | G/A | — | uncertain significance |
| rs2525812789 | 1:158,299,261 | T/C | — | uncertain significance |
| rs61745679 | 1:158,299,307 | C/T | — | benign |
| rs763828715 | 1:158,299,327 | C/T | — | likely benign |
| rs137886679 | 1:158,299,390 | C/T | — | uncertain significance |
| rs1430198682 | 1:158,299,411 | C/A | — | uncertain significance |
| rs761355975 | 1:158,299,433 | G/A | — | uncertain significance |
| rs769598543 | 1:158,299,670 | A/T | — | uncertain significance |
| rs900797845 | 1:158,299,852 | T/A | — | uncertain significance |
| rs747688005 | 1:158,299,899 | A/C | — | uncertain significance |
| rs62642468 | 1:158,300,604 | T/C | — | benign |
| rs149817745 | 1:158,300,661 | C/T | — | uncertain significance |
| rs61747107 | 1:158,300,686 | A/G | — | benign |
| rs1652576841 | 1:158,300,718 | T/C | — | uncertain significance |
| rs187304052 | 1:158,300,804 | G/A | — | uncertain significance |
| rs201728287 | 1:158,300,813 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.