CD1A

Chr 1

CD1a molecule

Also known as: CD1, FCB6, HTA1, R4, T6

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]

ResearchGenerating clinical summary…
2
Active trials
229
Pubs (1 yr)
P/LP submissions
P/LP missense
1.95
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.95LOEUF
pLI 0.000
Z-score -2.50
OE 1.64 (1.201.95)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.61Z-score
OE missense 1.12 (1.001.26)
215 obs / 191.2 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.64 (1.201.95)
00.351.4
Missense OE?1.12 (1.001.26)
00.61.4
Synonymous OE?1.15
01.21.6
LoF obs/exp: 29 / 17.7Missense obs/exp: 215 / 191.2Syn Z: -1.01

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

CD1A · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.