RBCC Red Blood Cell Collection

STX16_HUMAN

Source: PM19886704
PM23856902
PM22954596
Marked as 'Integral membrane protein'
Confidence: medium (present in either hRBCD or BSc_CH or PM22954596) Search PubMed for
(RBC AND this entry)
Gene names: STX16
Protein names and data: STX16_HUMAN , Syntaxin-16; Syn16 Lenght: 325 a.a.
Mass: 37031 Da
fasta formatted sequence
Function: SNARE involved in vesicular transport from the late endosomes to the trans-Golgi network.
Disease: ( OMIM: 603233 603666 ) Pseudohypoparathyroidism 1B (PHP1B) [MIM:603233]: A disorder characterized by end-organ resistance to parathyroid hormone, hypocalcemia and hyperphosphatemia. Patients affected with PHP1B lack developmental defects characteristic of Albright hereditary osteodystrophy, and typically show no other endocrine abnormalities besides resistance to PTH. Note=The gene represented in this entry is involved in disease pathogenesis. Microdeletions involving STX16 can cause loss of methylation at exon A/B of GNAS, resulting in PHP1B.
Cellular location: Golgi apparatus membrane; Single-pass type IV membrane protein. Isoform C: Cytoplasm.
Tissue specificity: Ubiquitous.

Database cross-references

UniProt: O14662
Ensembl: ENST00000355957
Ensembl: ENST00000358029
Ensembl: ENST00000359617
Ensembl: ENST00000371132
Ensembl: ENST00000371141
Ensembl: ENST00000467096
MIM: 603233
MIM: 603666
neXtProt: NX_O14662
Antibodypedia: O14662 (may not find the protein thus also not any antibody)
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