NP_115881.3
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
21,125 Da
NCBI Official Full Name
protein jagunal homolog 1
NCBI Official Synonym Full Names
jagunal homolog 1 (Drosophila)
NCBI Official Synonym Symbols
NCBI Protein Information
protein jagunal homolog 1
UniProt Protein Name
Protein jagunal homolog 1
UniProt Entry Name
JAGN1_HUMAN
NCBI Summary for JAGN1
The protein encoded by this gene is a transmembrane protein. It functions in the early secretory pathway and is necessary for neutrophil differentiation and survival. Mutations in this gene result in severe congenital neutropenia. [provided by RefSeq, Oct 2014]
UniProt Comments for JAGN1
JAGN1: May be required for endoplasmic reticulum organization. Belongs to the jagunal family.
Protein type: Membrane protein, multi-pass; Membrane protein, integral
Chromosomal Location of Human Ortholog: 3p25.2
Cellular Component: endoplasmic reticulum membrane; endoplasmic reticulum; integral to membrane
Biological Process: vesicle-mediated transport; endoplasmic reticulum organization and biogenesis; protein transport; exocytosis; neutrophil differentiation; neutrophil mediated immunity; defense response to fungus
Disease: Neutropenia, Severe Congenital, 6, Autosomal Recessive
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