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Protein

Protein jagunal homolog 1

Gene

JAGN1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

GO - Biological processi

  • defense response to fungus Source: Ensembl
  • endoplasmic reticulum organization Source: InterPro
  • exocytosis Source: UniProtKB
  • granulocyte colony-stimulating factor signaling pathway Source: UniProtKB
  • neutrophil differentiation Source: UniProtKB
  • neutrophil mediated immunity Source: Ensembl
  • neutrophil migration Source: Ensembl
  • protein transport Source: UniProtKB-KW
  • vesicle-mediated transport Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Immunity, Protein transport, Transport

Enzyme and pathway databases

BioCyciZFISH:ENSG00000171135-MONOMER.

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

HGNCiHGNC:26926. JAGN1.

Subcellular locationi

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

GO - Cellular componenti

  • endoplasmic reticulum Source: UniProtKB
  • endoplasmic reticulum membrane Source: UniProtKB-SubCell
  • integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

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 rs786205704dbSNPEnsembl.1
Natural variantiVAR_07179620R → Q in SCN6. 1 PublicationCorresponds to variant rs777966677dbSNPEnsembl.1
Natural variantiVAR_07179721E → D in SCN6. 1 PublicationCorresponds to variant rs587777729dbSNPEnsembl.1
Natural variantiVAR_07179844H → Y in SCN6. 1 PublicationCorresponds to variant rs587777728dbSNPEnsembl.1
Natural variantiVAR_071799162Q → R in SCN6. 1 PublicationCorresponds to variant rs587777730dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi84522.
MalaCardsiJAGN1.
MIMi616022. phenotype.
OpenTargetsiENSG00000171135.
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.
TopDownProteomicsiQ8N5M9.

PTM databases

iPTMnetiQ8N5M9.
PhosphoSitePlusiQ8N5M9.

Expressioni

Tissue specificityi

Ubiquitously expressed.1 Publication

Gene expression databases

BgeeiENSG00000171135.
CleanExiHS_JAGN1.
GenevisibleiQ8N5M9. HS.

Organism-specific databases

HPAiHPA067610.

Interactioni

Subunit structurei

Interacts with COPA, COPB2 and COPG2.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
CCDC155Q8N6L03EBI-10266796,EBI-749265
CLEC7AQ9BXN23EBI-10266796,EBI-3939278
CREB3L1Q96BA83EBI-10266796,EBI-6942903

Protein-protein interaction databases

BioGridi124115. 14 interactors.
IntActiQ8N5M9. 11 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.
OMAiNLVKAWK.
OrthoDBiEOG091G0PJB.
PhylomeDBiQ8N5M9.
TreeFamiTF313137.

Family and domain databases

InterProiIPR009787. Jagunal.
[Graphical view]
PANTHERiPTHR20955. PTHR20955. 1 hit.
PfamiPF07086. Jagunal. 1 hit.
[Graphical view]

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 rs786205704dbSNPEnsembl.1
Natural variantiVAR_07179620R → Q in SCN6. 1 PublicationCorresponds to variant rs777966677dbSNPEnsembl.1
Natural variantiVAR_07179721E → D in SCN6. 1 PublicationCorresponds to variant rs587777729dbSNPEnsembl.1
Natural variantiVAR_07179844H → Y in SCN6. 1 PublicationCorresponds to variant rs587777728dbSNPEnsembl.1
Natural variantiVAR_071799162Q → R in SCN6. 1 PublicationCorresponds to variant rs587777730dbSNPEnsembl.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.

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. 14 interactors.
IntActiQ8N5M9. 11 interactors.
STRINGi9606.ENSP00000306106.

PTM databases

iPTMnetiQ8N5M9.
PhosphoSitePlusiQ8N5M9.

Polymorphism and mutation databases

BioMutaiJAGN1.
DMDMi74729022.

Proteomic databases

EPDiQ8N5M9.
MaxQBiQ8N5M9.
PaxDbiQ8N5M9.
PeptideAtlasiQ8N5M9.
PRIDEiQ8N5M9.
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.
GeneCardsiJAGN1.
H-InvDBHIX0003036.
HIX0163471.
HGNCiHGNC:26926. JAGN1.
HPAiHPA067610.
MalaCardsiJAGN1.
MIMi616012. gene.
616022. phenotype.
neXtProtiNX_Q8N5M9.
OpenTargetsiENSG00000171135.
PharmGKBiPA134954931.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4054. Eukaryota.
ENOG4111GU8. LUCA.
GeneTreeiENSGT00390000005596.
HOGENOMiHOG000008063.
HOVERGENiHBG056502.
InParanoidiQ8N5M9.
OMAiNLVKAWK.
OrthoDBiEOG091G0PJB.
PhylomeDBiQ8N5M9.
TreeFamiTF313137.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000171135-MONOMER.

Miscellaneous databases

GenomeRNAii84522.
PROiQ8N5M9.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000171135.
CleanExiHS_JAGN1.
GenevisibleiQ8N5M9. HS.

Family and domain databases

InterProiIPR009787. Jagunal.
[Graphical view]
PANTHERiPTHR20955. PTHR20955. 1 hit.
PfamiPF07086. Jagunal. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiJAGN1_HUMAN
AccessioniPrimary (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: November 30, 2016
This is version 105 of the entry and version 1 of the sequence. [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

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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.