JAGN1
entrez
84522
canonical
uniprot
Q8N5M9
canonical
ensembl
ENSG00000171135
resolver
ensp
ENSP00000496942
resolver
enst
ENST00000647897
resolver
genesymbol
JAGN1
resolver
hgnc
HGNC:26926
resolver
uniprot
Q8NCF6
resolver
uniprot
Q96SW1
resolver
uniprot_entry
JAGN1_HUMAN
resolver
uniprot_sec
Q8NCF6
resolver
uniprot_sec
Q96SW1
resolver
amino_acid_sequence
MASRAGPRAAGTDGSDFQHRERVAMHYQMSVTLKYEIKKLIYVHLVIWLLLVAKMSVGHLRLLSHDQVAMPYQWEYPYLLSILPSLLGLLSFPRNNISYLVLSMISMGLFSIAPLIYGSMEMFPAAQQLYRHGKAYRFLFGFSAVSIMYLVLVLAVQVHAWQLYYSKKLLDSWFTSTQEKKHK
uniprot
proteins
disease_involvement
DISEASE: Neutropenia, severe congenital 6, autosomal recessive (SCN6) [MIM:616022]: A disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections. {ECO:0000269|PubMed:25129144}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Endoplasmic reticulum transmembrane protein involved in vesicle-mediated transport, which is required for neutrophil function. Required for vesicle-mediated transport; it is however unclear whether it is involved in early secretory pathway or intracellular protein transport. Acts as a regulator of neutrophil function, probably via its role in vesicle-mediated transport: required for defense against fungal pathogens and for granulocyte colony-stimulating factor (GM-CSF) signaling pathway; possibly by regulating glycosylation and/or targeting of proteins contributing to the viability and migration of neutrophils. {ECO:0000269|PubMed:25129144, ECO:0000305}.
uniprot
proteins
mass_dalton
21125
uniprot
proteins
protein_family
Jagunal family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17389229
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
25129144
uniprot
proteins
sequence_length
183
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:25129144}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 40..60; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 72..92; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 97..117; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 138..158; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins