UniProt functional annotation for P01848

UniProt code: P01848.

Organism: Homo sapiens (Human).
Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
 
Subcellular location: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
Disease: Immunodeficiency 7 (IMD7) [MIM:615387]: A primary immunodeficiency disorder manifesting with recurrent respiratory infections, candidiasis, diarrhea, and failure to thrive. Patients show a clear predisposition to herpes viral infections, and features of immune dysregulation, including hypereosinophilia, vitiligo, and alopecia areata. Other features include lymphadenopathy and hepatosplenomegaly. CD3+ T-cells express TCR- gamma/delta, but little or no TCR-alpha/beta. {ECO:0000269|PubMed:21206088}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Miscellaneous: This clone was isolated from a human leukemic T- cell line, Jurkat.
Miscellaneous: This alpha chain C region shows sequence homology to its beta chain counterpart.
Miscellaneous: The gene corresponding to this mRNA is rearranged specifically in T-cells; its organization is similar to an Ig gene, with V, D, J, and C regions.
Sequence caution: Sequence=CAA26435.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

Annotations taken from UniProtKB at the EBI.