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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

  • 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 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.

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:rs786205704Ensembl.1
Natural variantiVAR_07179620R → Q in SCN6. 1 PublicationCorresponds to variant dbSNP:rs777966677Ensembl.1
Natural variantiVAR_07179721E → D in SCN6. 1 PublicationCorresponds to variant dbSNP:rs587777729Ensembl.1
Natural variantiVAR_07179844H → Y in SCN6. 1 PublicationCorresponds to variant dbSNP:rs587777728Ensembl.1
Natural variantiVAR_071799162Q → R in SCN6. 1 PublicationCorresponds to variant dbSNP:rs587777730Ensembl.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

Show more details

Protein-protein interaction databases

BioGridi124115. 14 interactors.
IntActiQ8N5M9. 21 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

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:rs786205704Ensembl.1
Natural variantiVAR_07179620R → Q in SCN6. 1 PublicationCorresponds to variant dbSNP:rs777966677Ensembl.1
Natural variantiVAR_07179721E → D in SCN6. 1 PublicationCorresponds to variant dbSNP:rs587777729Ensembl.1
Natural variantiVAR_07179844H → Y in SCN6. 1 PublicationCorresponds to variant dbSNP:rs587777728Ensembl.1
Natural variantiVAR_071799162Q → R in SCN6. 1 PublicationCorresponds to variant dbSNP:rs587777730Ensembl.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

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: September 27, 2017
This is version 108 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

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