UniProtKB - Q8N5M9 (JAGN1_HUMAN)
Protein
Protein jagunal homolog 1
Gene
JAGN1
Organism
Homo sapiens (Human)
Status
Functioni
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.Curated1 Publication
Caution
Experiments in mouse confirm the importance of JAGN1 in neutrophil function with some differences. Mice lacking JAGN1 do not show neutropenia and display increased susceptibility to fungal infections due to defective killing capacity of neutrophil granulocytes.Curated1 Publication
Variant SCNN 'Gln-20' is described as 'Glu-20' (PubMed:25129144). However, based on the substitution described in the paper, it is clearly a 'Gln-20' variant.1 Publication
GO - Biological processi
- cellular response to tunicamycin Source: Ensembl
- defense response to fungus Source: Ensembl
- endoplasmic reticulum organization Source: InterPro
- exocytosis Source: UniProtKB
- granulocyte colony-stimulating factor signaling pathway Source: UniProtKB
- negative regulation of insulin secretion involved in cellular response to glucose stimulus Source: Ensembl
- neutrophil differentiation Source: UniProtKB
- neutrophil mediated immunity Source: Ensembl
- neutrophil migration Source: Ensembl
- protein transport Source: UniProtKB-KW
- vesicle-mediated transport Source: UniProtKB
Keywordsi
Biological process | Immunity, Protein transport, Transport |
Names & Taxonomyi
Protein namesi | Recommended name: Protein jagunal homolog 1Curated |
Gene namesi | Name:JAGN1Imported |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:26926 JAGN1 |
MIMi | 616012 gene |
neXtProti | NX_Q8N5M9 |
Subcellular locationi
Endoplasmic reticulum
- Endoplasmic reticulum membrane 1 Publication; Multi-pass membrane protein Sequence analysis
Endoplasmic reticulum
- endoplasmic reticulum Source: UniProtKB
- endoplasmic reticulum membrane Source: UniProtKB-SubCell
Other locations
- integral component of membrane Source: UniProtKB-KW
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 39 | CytoplasmicSequence analysisAdd BLAST | 39 | |
Transmembranei | 40 – 60 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 61 – 71 | LumenalSequence analysisAdd BLAST | 11 | |
Transmembranei | 72 – 92 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 93 – 96 | CytoplasmicSequence analysis | 4 | |
Transmembranei | 97 – 117 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 118 – 137 | LumenalSequence analysisAdd BLAST | 20 | |
Transmembranei | 138 – 158 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 159 – 183 | CytoplasmicSequence analysisAdd BLAST | 25 |
Keywords - Cellular componenti
Endoplasmic reticulum, MembranePathology & Biotechi
Involvement in diseasei
Neutropenia, severe congenital 6, autosomal recessive (SCN6)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_071795 | 14 | G → S in SCN6. 1 PublicationCorresponds to variant dbSNP:rs786205704EnsemblClinVar. | 1 | |
Natural variantiVAR_071796 | 20 | R → Q in SCN6. 1 PublicationCorresponds to variant dbSNP:rs777966677EnsemblClinVar. | 1 | |
Natural variantiVAR_071797 | 21 | E → D in SCN6. 1 PublicationCorresponds to variant dbSNP:rs587777729EnsemblClinVar. | 1 | |
Natural variantiVAR_071798 | 44 | H → Y in SCN6. 1 PublicationCorresponds to variant dbSNP:rs587777728EnsemblClinVar. | 1 | |
Natural variantiVAR_071799 | 162 | Q → R in SCN6. 1 PublicationCorresponds to variant dbSNP:rs587777730EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease mutationOrganism-specific databases
DisGeNETi | 84522 |
MalaCardsi | JAGN1 |
MIMi | 616022 phenotype |
OpenTargetsi | ENSG00000171135 |
Orphaneti | 423384 Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency |
PharmGKBi | PA134954931 |
Miscellaneous databases
Pharosi | Q8N5M9 |
Polymorphism and mutation databases
BioMutai | JAGN1 |
DMDMi | 74729022 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000313608 | 1 – 183 | Protein jagunal homolog 1Add BLAST | 183 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 3 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q8N5M9 |
jPOSTi | Q8N5M9 |
MassIVEi | Q8N5M9 |
MaxQBi | Q8N5M9 |
PaxDbi | Q8N5M9 |
PeptideAtlasi | Q8N5M9 |
PRIDEi | Q8N5M9 |
ProteomicsDBi | 72076 |
TopDownProteomicsi | Q8N5M9 |
PTM databases
iPTMneti | Q8N5M9 |
PhosphoSitePlusi | Q8N5M9 |
Expressioni
Tissue specificityi
Ubiquitously expressed.1 Publication
Gene expression databases
Bgeei | ENSG00000171135 Expressed in 199 organ(s), highest expression level in prostate gland |
ExpressionAtlasi | Q8N5M9 baseline and differential |
Genevisiblei | Q8N5M9 HS |
Organism-specific databases
HPAi | HPA067610 |
Interactioni
Subunit structurei
Interacts with COPA, COPB2 and COPG2.
1 PublicationBinary interactionsi
Protein-protein interaction databases
BioGridi | 124115, 17 interactors |
IntActi | Q8N5M9, 107 interactors |
STRINGi | 9606.ENSP00000306106 |
Family & Domainsi
Sequence similaritiesi
Belongs to the jagunal family.Curated
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG4054 Eukaryota ENOG4111GU8 LUCA |
GeneTreei | ENSGT00390000005596 |
HOGENOMi | HOG000008063 |
InParanoidi | Q8N5M9 |
OMAi | KAWKART |
OrthoDBi | 1452436at2759 |
PhylomeDBi | Q8N5M9 |
TreeFami | TF313137 |
Family and domain databases
InterProi | View protein in InterPro IPR009787 Jagunal |
PANTHERi | PTHR20955 PTHR20955, 1 hit |
Pfami | View protein in Pfam PF07086 Jagunal, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All
Q8N5M9-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MASRAGPRAA GTDGSDFQHR ERVAMHYQMS VTLKYEIKKL IYVHLVIWLL
60 70 80 90 100
LVAKMSVGHL RLLSHDQVAM PYQWEYPYLL SILPSLLGLL SFPRNNISYL
110 120 130 140 150
VLSMISMGLF SIAPLIYGSM EMFPAAQQLY RHGKAYRFLF GFSAVSIMYL
160 170 180
VLVLAVQVHA WQLYYSKKLL DSWFTSTQEK KHK
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketA0A3B3ITE9 | A0A3B3ITE9_HUMAN | Protein jagunal homolog 1 | JAGN1 | 50 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 9 | A → T in BAC11188 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 58 | G → E in BAB55163 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 61 | R → G in BAB55163 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 149 | Y → H in BAB55163 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_071795 | 14 | G → S in SCN6. 1 PublicationCorresponds to variant dbSNP:rs786205704EnsemblClinVar. | 1 | |
Natural variantiVAR_071796 | 20 | R → Q in SCN6. 1 PublicationCorresponds to variant dbSNP:rs777966677EnsemblClinVar. | 1 | |
Natural variantiVAR_071797 | 21 | E → D in SCN6. 1 PublicationCorresponds to variant dbSNP:rs587777729EnsemblClinVar. | 1 | |
Natural variantiVAR_071798 | 44 | H → Y in SCN6. 1 PublicationCorresponds to variant dbSNP:rs587777728EnsemblClinVar. | 1 | |
Natural variantiVAR_071799 | 162 | Q → R in SCN6. 1 PublicationCorresponds to variant dbSNP:rs587777730EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK027508 mRNA Translation: BAB55163.1 AK074760 mRNA Translation: BAC11188.1 CH471055 Genomic DNA Translation: EAW64015.1 BC032101 mRNA Translation: AAH32101.1 |
CCDSi | CCDS2588.1 |
RefSeqi | NP_115881.3, NM_032492.3 |
Genome annotation databases
Ensembli | ENST00000647897; ENSP00000496942; ENSG00000171135 |
GeneIDi | 84522 |
KEGGi | hsa:84522 |
UCSCi | uc003btt.5 human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK027508 mRNA Translation: BAB55163.1 AK074760 mRNA Translation: BAC11188.1 CH471055 Genomic DNA Translation: EAW64015.1 BC032101 mRNA Translation: AAH32101.1 |
CCDSi | CCDS2588.1 |
RefSeqi | NP_115881.3, NM_032492.3 |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGridi | 124115, 17 interactors |
IntActi | Q8N5M9, 107 interactors |
STRINGi | 9606.ENSP00000306106 |
PTM databases
iPTMneti | Q8N5M9 |
PhosphoSitePlusi | Q8N5M9 |
Polymorphism and mutation databases
BioMutai | JAGN1 |
DMDMi | 74729022 |
Proteomic databases
EPDi | Q8N5M9 |
jPOSTi | Q8N5M9 |
MassIVEi | Q8N5M9 |
MaxQBi | Q8N5M9 |
PaxDbi | Q8N5M9 |
PeptideAtlasi | Q8N5M9 |
PRIDEi | Q8N5M9 |
ProteomicsDBi | 72076 |
TopDownProteomicsi | Q8N5M9 |
Protocols and materials databases
DNASUi | 84522 |
Genome annotation databases
Ensembli | ENST00000647897; ENSP00000496942; ENSG00000171135 |
GeneIDi | 84522 |
KEGGi | hsa:84522 |
UCSCi | uc003btt.5 human |
Organism-specific databases
CTDi | 84522 |
DisGeNETi | 84522 |
GeneCardsi | JAGN1 |
HGNCi | HGNC:26926 JAGN1 |
HPAi | HPA067610 |
MalaCardsi | JAGN1 |
MIMi | 616012 gene 616022 phenotype |
neXtProti | NX_Q8N5M9 |
OpenTargetsi | ENSG00000171135 |
Orphaneti | 423384 Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency |
PharmGKBi | PA134954931 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4054 Eukaryota ENOG4111GU8 LUCA |
GeneTreei | ENSGT00390000005596 |
HOGENOMi | HOG000008063 |
InParanoidi | Q8N5M9 |
OMAi | KAWKART |
OrthoDBi | 1452436at2759 |
PhylomeDBi | Q8N5M9 |
TreeFami | TF313137 |
Miscellaneous databases
GenomeRNAii | 84522 |
Pharosi | Q8N5M9 |
PROi | PR:Q8N5M9 |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000171135 Expressed in 199 organ(s), highest expression level in prostate gland |
ExpressionAtlasi | Q8N5M9 baseline and differential |
Genevisiblei | Q8N5M9 HS |
Family and domain databases
InterProi | View protein in InterPro IPR009787 Jagunal |
PANTHERi | PTHR20955 PTHR20955, 1 hit |
Pfami | View protein in Pfam PF07086 Jagunal, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | JAGN1_HUMAN | |
Accessioni | Q8N5M9Primary (citable) accession number: Q8N5M9 Secondary accession number(s): Q8NCF6, Q96SW1 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | January 15, 2008 |
Last sequence update: | October 1, 2002 | |
Last modified: | October 16, 2019 | |
This is version 120 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Complete proteome, Reference proteomeDocuments
- Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - SIMILARITY comments
Index of protein domains and families - Human chromosome 3
Human chromosome 3: entries, gene names and cross-references to MIM - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot