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Protein

Protein jagunal homolog 1

Gene

JAGN1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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

Keywordsi

Biological processImmunity, Protein transport, Transport

Names & Taxonomyi

Protein namesi
Recommended name:
Protein jagunal homolog 1Curated
Gene namesi
Name:JAGN1Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000171135.12
HGNCiHGNC:26926 JAGN1
MIMi616012 gene
neXtProtiNX_Q8N5M9

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 39CytoplasmicSequence analysisAdd BLAST39
Transmembranei40 – 60HelicalSequence analysisAdd BLAST21
Topological domaini61 – 71LumenalSequence analysisAdd BLAST11
Transmembranei72 – 92HelicalSequence analysisAdd BLAST21
Topological domaini93 – 96CytoplasmicSequence analysis4
Transmembranei97 – 117HelicalSequence analysisAdd BLAST21
Topological domaini118 – 137LumenalSequence analysisAdd BLAST20
Transmembranei138 – 158HelicalSequence analysisAdd BLAST21
Topological domaini159 – 183CytoplasmicSequence analysisAdd BLAST25

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & 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.
See also OMIM:616022
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07179514G → S in SCN6. 1 PublicationCorresponds to variant dbSNP:rs786205704EnsemblClinVar.1
Natural variantiVAR_07179620R → Q in SCN6. 1 PublicationCorresponds to variant dbSNP:rs777966677EnsemblClinVar.1
Natural variantiVAR_07179721E → D in SCN6. 1 PublicationCorresponds to variant dbSNP:rs587777729EnsemblClinVar.1
Natural variantiVAR_07179844H → Y in SCN6. 1 PublicationCorresponds to variant dbSNP:rs587777728EnsemblClinVar.1
Natural variantiVAR_071799162Q → R in SCN6. 1 PublicationCorresponds to variant dbSNP:rs587777730EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi84522
MalaCardsiJAGN1
MIMi616022 phenotype
OpenTargetsiENSG00000171135
Orphaneti423384 Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
PharmGKBiPA134954931

Polymorphism and mutation databases

BioMutaiJAGN1
DMDMi74729022

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003136081 – 183Protein jagunal homolog 1Add BLAST183

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei3PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ8N5M9
MaxQBiQ8N5M9
PaxDbiQ8N5M9
PeptideAtlasiQ8N5M9
PRIDEiQ8N5M9
ProteomicsDBi72076
TopDownProteomicsiQ8N5M9

PTM databases

iPTMnetiQ8N5M9
PhosphoSitePlusiQ8N5M9

Expressioni

Tissue specificityi

Ubiquitously expressed.1 Publication

Gene expression databases

BgeeiENSG00000171135 Expressed in 199 organ(s), highest expression level in prostate gland
CleanExiHS_JAGN1
GenevisibleiQ8N5M9 HS

Organism-specific databases

HPAiHPA067610

Interactioni

Subunit structurei

Interacts with COPA, COPB2 and COPG2.1 Publication

Binary interactionsi

Protein-protein interaction databases

BioGridi124115, 15 interactors
IntActiQ8N5M9, 106 interactors
STRINGi9606.ENSP00000306106

Structurei

3D structure databases

ProteinModelPortaliQ8N5M9
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the jagunal family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4054 Eukaryota
ENOG4111GU8 LUCA
GeneTreeiENSGT00390000005596
HOGENOMiHOG000008063
HOVERGENiHBG056502
InParanoidiQ8N5M9
OMAiPPPLWWE
OrthoDBiEOG091G0PJB
PhylomeDBiQ8N5M9
TreeFamiTF313137

Family and domain databases

InterProiView protein in InterPro
IPR009787 Jagunal
PANTHERiPTHR20955 PTHR20955, 1 hit
PfamiView protein in Pfam
PF07086 Jagunal, 1 hit

Sequencei

Sequence statusi: Complete.

Q8N5M9-1 [UniParc]FASTAAdd to basket
« Hide
        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
Length:183
Mass (Da):21,125
Last modified:October 1, 2002 - v1
Checksum:i5F203B99E670D7A7
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti9A → T in BAC11188 (PubMed:14702039).Curated1
Sequence conflicti58G → E in BAB55163 (PubMed:14702039).Curated1
Sequence conflicti61R → G in BAB55163 (PubMed:14702039).Curated1
Sequence conflicti149Y → H in BAB55163 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07179514G → S in SCN6. 1 PublicationCorresponds to variant dbSNP:rs786205704EnsemblClinVar.1
Natural variantiVAR_07179620R → Q in SCN6. 1 PublicationCorresponds to variant dbSNP:rs777966677EnsemblClinVar.1
Natural variantiVAR_07179721E → D in SCN6. 1 PublicationCorresponds to variant dbSNP:rs587777729EnsemblClinVar.1
Natural variantiVAR_07179844H → Y in SCN6. 1 PublicationCorresponds to variant dbSNP:rs587777728EnsemblClinVar.1
Natural variantiVAR_071799162Q → 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
CCDSiCCDS2588.1
RefSeqiNP_115881.3, NM_032492.3
UniGeneiHs.24054

Genome annotation databases

EnsembliENST00000307768; ENSP00000306106; ENSG00000171135
GeneIDi84522
KEGGihsa:84522
UCSCiuc003btt.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
CCDSiCCDS2588.1
RefSeqiNP_115881.3, NM_032492.3
UniGeneiHs.24054

3D structure databases

ProteinModelPortaliQ8N5M9
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124115, 15 interactors
IntActiQ8N5M9, 106 interactors
STRINGi9606.ENSP00000306106

PTM databases

iPTMnetiQ8N5M9
PhosphoSitePlusiQ8N5M9

Polymorphism and mutation databases

BioMutaiJAGN1
DMDMi74729022

Proteomic databases

EPDiQ8N5M9
MaxQBiQ8N5M9
PaxDbiQ8N5M9
PeptideAtlasiQ8N5M9
PRIDEiQ8N5M9
ProteomicsDBi72076
TopDownProteomicsiQ8N5M9

Protocols and materials databases

DNASUi84522
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000307768; ENSP00000306106; ENSG00000171135
GeneIDi84522
KEGGihsa:84522
UCSCiuc003btt.5 human

Organism-specific databases

CTDi84522
DisGeNETi84522
EuPathDBiHostDB:ENSG00000171135.12
GeneCardsiJAGN1
H-InvDBiHIX0003036
HIX0163471
HGNCiHGNC:26926 JAGN1
HPAiHPA067610
MalaCardsiJAGN1
MIMi616012 gene
616022 phenotype
neXtProtiNX_Q8N5M9
OpenTargetsiENSG00000171135
Orphaneti423384 Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
PharmGKBiPA134954931
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4054 Eukaryota
ENOG4111GU8 LUCA
GeneTreeiENSGT00390000005596
HOGENOMiHOG000008063
HOVERGENiHBG056502
InParanoidiQ8N5M9
OMAiPPPLWWE
OrthoDBiEOG091G0PJB
PhylomeDBiQ8N5M9
TreeFamiTF313137

Miscellaneous databases

GenomeRNAii84522
PROiPR:Q8N5M9
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000171135 Expressed in 199 organ(s), highest expression level in prostate gland
CleanExiHS_JAGN1
GenevisibleiQ8N5M9 HS

Family and domain databases

InterProiView protein in InterPro
IPR009787 Jagunal
PANTHERiPTHR20955 PTHR20955, 1 hit
PfamiView protein in Pfam
PF07086 Jagunal, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiJAGN1_HUMAN
AccessioniPrimary (citable) accession number: Q8N5M9
Secondary accession number(s): Q8NCF6, Q96SW1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: October 1, 2002
Last modified: November 7, 2018
This is version 113 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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 proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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Main funding by: National Institutes of Health

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