JAGN1

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
Traceable author statementⁱ
- 25129144
granulocyte colony-stimulating factor signaling pathway
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 25129144
negative regulation of insulin secretion involved in cellular response to glucose stimulus Source: Ensembl
neutrophil differentiation
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 25129144
neutrophil mediated immunity Source: Ensembl
neutrophil migration Source: Ensembl
protein transport Source: UniProtKB-KW
vesicle-mediated transport
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 25129144

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Biological process	Immunity, Protein transport, Transport

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	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 3

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000171135.12
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:26926 JAGN1
MIMⁱ	616012 gene
neXtProtⁱ	NX_Q8N5M9

Topology

Feature key	Position(s)	DescriptionActions	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, 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.

Keywords - Diseaseⁱ

Disease mutation

Organism-specific databases

DisGeNET More...DisGeNETⁱ	84522
MalaCards human disease database More...MalaCardsⁱ	JAGN1
MIMⁱ	616022 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000171135
Orphanetⁱ	423384 Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
PharmGKBⁱ	PA134954931

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

Phosphoprotein

Proteomic databases

EPDⁱ	Q8N5M9
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q8N5M9
PaxDbⁱ	Q8N5M9
PeptideAtlas More...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
CleanExⁱ	HS_JAGN1
Genevisibleⁱ	Q8N5M9 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA067610

HPAⁱ

HPA067610

Interactionⁱ

Subunit structureⁱ

Interacts with COPA, COPB2 and COPG2.1 Publication

Binary interactionsⁱ

With	Entry	#Exp.	IntAct
CCDC155	Q8N6L0	5	EBI-10266796,EBI-749265
CLEC7A	Q9BXN2	3	EBI-10266796,EBI-3939278
CREB3L1	Q96BA8	3	EBI-10266796,EBI-6942903

Protein-protein interaction databases

BioGridⁱ	124115, 15 interactors
IntActⁱ	Q8N5M9, 106 interactors
STRINGⁱ	9606.ENSP00000306106

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	Q8N5M9
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Sequence similaritiesⁱ

Belongs to the jagunal family.Curated

Keywords - Domainⁱ

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGⁱ	KOG4054 Eukaryota ENOG4111GU8 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00390000005596
HOGENOMⁱ	HOG000008063
HOVERGENⁱ	HBG056502
InParanoidⁱ	Q8N5M9
OMAⁱ	PPPLWWE
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0PJB
PhylomeDBⁱ	Q8N5M9
TreeFamⁱ	TF313137

Family and domain databases

InterProⁱ	View protein in InterPro IPR009787 Jagunal
PANTHERⁱ	PTHR20955 PTHR20955, 1 hit
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF07086 Jagunal, 1 hit

Sequenceⁱ

Sequence statusⁱ: Complete.

Q8N5M9-1 [UniParc]FASTA Add 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 key	Position(s)	DescriptionActions	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	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
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS2588.1
NCBI Reference Sequences More...RefSeqⁱ	NP_115881.3, NM_032492.3
UniGeneⁱ	Hs.24054

Genome annotation databases

Ensemblⁱ	ENST00000307768; ENSP00000306106; ENSG00000171135
GeneIDⁱ	84522
KEGGⁱ	hsa:84522
UCSC genome browser More...UCSCⁱ	uc003btt.5 human

Similar proteinsⁱ

90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q8N5M9	Protein jagunal homolog 1		BOVIN		183	UniRef90_Q8N5M9
Protein jagunal homolog 1		MOUSE		183
Protein jagunal homolog 1		RAT		183
protein jagunal homolog 1		URSMA		187
Protein jagunal-like 1		CRIGR		183
+106

Protein	Similar proteins		Species	Score	Length	Source
Q8N5M9	Protein jagunal homolog 1		BOVIN		183	UniRef50_Q8N5M9
Protein jagunal homolog 1		MOUSE		183
Protein jagunal homolog 1		RAT		183
Protein jagunal homolog 1		XENTR		183
Protein jagunal homolog 1		XENLA		183
+221

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
UniGeneⁱ	Hs.24054

3D structure databases

ProteinModelPortalⁱ	Q8N5M9
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	124115, 15 interactors
IntActⁱ	Q8N5M9, 106 interactors
STRINGⁱ	9606.ENSP00000306106

PTM databases

iPTMnetⁱ	Q8N5M9
PhosphoSitePlusⁱ	Q8N5M9

Polymorphism and mutation databases

BioMutaⁱ	JAGN1
DMDMⁱ	74729022

Proteomic databases

EPDⁱ	Q8N5M9
MaxQBⁱ	Q8N5M9
PaxDbⁱ	Q8N5M9
PeptideAtlasⁱ	Q8N5M9
PRIDEⁱ	Q8N5M9
ProteomicsDBⁱ	72076
TopDownProteomicsⁱ	Q8N5M9

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	84522
Structural Biology Knowledgebase	Search...

Genome annotation databases

Ensemblⁱ	ENST00000307768; ENSP00000306106; ENSG00000171135
GeneIDⁱ	84522
KEGGⁱ	hsa:84522
UCSCⁱ	uc003btt.5 human

Organism-specific databases

CTDⁱ	84522
DisGeNETⁱ	84522
EuPathDBⁱ	HostDB:ENSG00000171135.12
GeneCardsⁱ	JAGN1
H-InvDBⁱ	HIX0003036 HIX0163471
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
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG4054 Eukaryota ENOG4111GU8 LUCA
GeneTreeⁱ	ENSGT00390000005596
HOGENOMⁱ	HOG000008063
HOVERGENⁱ	HBG056502
InParanoidⁱ	Q8N5M9
OMAⁱ	PPPLWWE
OrthoDBⁱ	EOG091G0PJB
PhylomeDBⁱ	Q8N5M9
TreeFamⁱ	TF313137

Miscellaneous databases

GenomeRNAiⁱ	84522
Protein Ontology More...PROⁱ	PR:Q8N5M9
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000171135 Expressed in 199 organ(s), highest expression level in prostate gland
CleanExⁱ	HS_JAGN1
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...

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:	November 7, 2018
	This is version 113 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 proteome

Documents

SIMILARITY comments
Index of protein domains and families
Human chromosome 3
Human chromosome 3: entries, gene names and cross-references to MIM
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
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

UniProtKB

UniParc

Help

UniRef

Proteomes

Annotation systems

Supporting data

UniProtKB - Q8N5M9 (JAGN1_HUMAN)

Your basket is currently empty. i <p>When browsing through different UniProt proteins, you can use the ‘basket’ to save them, so that you can back to find or analyse them later.<p><a href='/help/basket' target='_top'>More...</a></p>

Protein jagunal homolog 1

Select a section on the left to see content.

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Caution

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Endoplasmic reticulum

Endoplasmic reticulum

Other locations

Topology

Keywords - Cellular componenti

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Keywords - Diseasei

Organism-specific databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Amino acid modifications

Keywords - PTMi

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Phylogenomic databases

Family and domain databases

Experimental Info

Natural variant

Sequence databases

Genome annotation databases

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Documents

UniProt is an ELIXIR core data resource

Your basket is currently empty. ⁱ

Functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Domainⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ