transmembrane protein 16E; gnathodiaphyseal dysplasia 1 protein (TMEM16E, GDD1, ANO5)

Compartment: - endoplasmic reticulum - co-localized with CALR/calreticulin Expression: - expressed in brain, heart, kidney, lung, skeletal muscle > bone marrow, fetal liver, placenta, spleen, thymus, osteoblasts, periodontal ligament cells Pathology: - defects in TMEM16E result in gnathodiaphyseal dysplasia

General

glycoprotein transmembrane 8 protein

Properties

SIZE: MW = 107 kD entity length = 913 aa COMPARTMENT: endoplasmic reticulum MOTIF: cytoplasmic domain {1-299} transmembrane domain {300-320} exoplasmic loop {321-380} MOTIF: N-glycosylation site {N335} N-glycosylation site {N366} N-glycosylation site {N380} transmembrane domain {381-401} cytoplasmic loop {402-462} transmembrane domain {463-483} exoplasmic loop {484-511} transmembrane domain {512-532} cytoplasmic loop {533-557} transmembrane domain {558-578} exoplasmic loop {579-679} transmembrane domain {680-700} cytoplasmic loop {701-732} transmembrane domain {733-753} exoplasmic loop {754-834} MOTIF: N-glycosylation site {N768} N-glycosylation site {N778} N-glycosylation site {N791} transmembrane domain {835-855} cytoplasmic domain {856-913}

Database Correlations

OMIM correlations MORBIDMAP 608662 UniProt Q75V66 Pfam PF04547

References

UniProt :accession Q75V66