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Aliases for JAGN1 Gene

Aliases for JAGN1 Gene

  • Jagunal Homolog 1 (Drosophila) 2 3
  • Protein Jagunal Homolog 1 3
  • GL009 3
  • SCN6 3

External Ids for JAGN1 Gene

Previous GeneCards Identifiers for JAGN1 Gene

  • GC03P009908
  • GC03P009909
  • GC03P009910
  • GC03P009911
  • GC03P009912
  • GC03P009932
  • GC03P009868

Summaries for JAGN1 Gene

Entrez Gene Summary for JAGN1 Gene

  • The protein encoded by this gene is a transmembrane protein. It functions in the early secretory pathway and is necessary for neutrophil differentiation and survival. Mutations in this gene result in severe congenital neutropenia. [provided by RefSeq, Oct 2014]

GeneCards Summary for JAGN1 Gene

JAGN1 (Jagunal Homolog 1 (Drosophila)) is a Protein Coding gene. Diseases associated with JAGN1 include neutropenia, severe congenital, 6, autosomal recessive.

UniProtKB/Swiss-Prot for JAGN1 Gene

  • 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for JAGN1 Gene

Genomics for JAGN1 Gene

Regulatory Elements for JAGN1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for JAGN1 Gene

Start:
9,890,554 bp from pter
End:
9,894,349 bp from pter
Size:
3,796 bases
Orientation:
Plus strand

Genomic View for JAGN1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for JAGN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for JAGN1 Gene

Proteins for JAGN1 Gene

  • Protein details for JAGN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N5M9-JAGN1_HUMAN
    Recommended name:
    Protein jagunal homolog 1
    Protein Accession:
    Q8N5M9
    Secondary Accessions:
    • Q8NCF6
    • Q96SW1

    Protein attributes for JAGN1 Gene

    Size:
    183 amino acids
    Molecular mass:
    21125 Da
    Quaternary structure:
    • Interacts with COPA, COPB2 and COPG2.

neXtProt entry for JAGN1 Gene

Proteomics data for JAGN1 Gene at MOPED

Post-translational modifications for JAGN1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for JAGN1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for JAGN1 Gene

Domains for JAGN1 Gene

Protein Domains for JAGN1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for JAGN1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N5M9

UniProtKB/Swiss-Prot:

JAGN1_HUMAN :
  • Q8N5M9
Family:
  • Belongs to the jagunal family.
genes like me logo Genes that share domains with JAGN1: view

No data available for Gene Families for JAGN1 Gene

Function for JAGN1 Gene

Molecular function for JAGN1 Gene

UniProtKB/Swiss-Prot Function: 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.

Gene Ontology (GO) - Molecular Function for JAGN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with JAGN1: view

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for JAGN1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for JAGN1 Gene

Localization for JAGN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for JAGN1 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for JAGN1 Gene COMPARTMENTS Subcellular localization image for JAGN1 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3

Gene Ontology (GO) - Cellular Components for JAGN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA 25129144
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with JAGN1: view

Pathways for JAGN1 Gene

SuperPathways for JAGN1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for JAGN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002446 neutrophil mediated immunity IEA --
GO:0006887 exocytosis TAS 25129144
GO:0007029 endoplasmic reticulum organization IEA --
GO:0015031 protein transport IEA --
GO:0016192 vesicle-mediated transport IMP 25129144
genes like me logo Genes that share ontologies with JAGN1: view

No data available for Pathways by source for JAGN1 Gene

Transcripts for JAGN1 Gene

mRNA/cDNA for JAGN1 Gene

Unigene Clusters for JAGN1 Gene

Jagunal homolog 1 (Drosophila):
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for JAGN1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for JAGN1 Gene

No ASD Table

Relevant External Links for JAGN1 Gene

GeneLoc Exon Structure for
JAGN1
ECgene alternative splicing isoforms for
JAGN1

Expression for JAGN1 Gene

mRNA expression in normal human tissues for JAGN1 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for JAGN1 Gene

SOURCE GeneReport for Unigene cluster for JAGN1 Gene Hs.24054

mRNA Expression by UniProt/SwissProt for JAGN1 Gene

Q8N5M9-JAGN1_HUMAN
Tissue specificity: Ubiquitously expressed.
genes like me logo Genes that share expressions with JAGN1: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for JAGN1 Gene

Orthologs for JAGN1 Gene

This gene was present in the common ancestor of animals.

Orthologs for JAGN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia JAGN1 35
  • 99.27 (n)
  • 99.45 (a)
JAGN1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia JAGN1 35
  • 93.08 (n)
  • 97.81 (a)
JAGN1 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia JAGN1 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Jagn1 35
  • 92.71 (n)
  • 97.81 (a)
Jagn1 16
Jagn1 36
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia JAGN1 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia JAGN1 36
  • 85 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Jagn1 35
  • 91.99 (n)
  • 97.81 (a)
lizard
(Anolis carolinensis)
Reptilia JAGN1 36
  • 83 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.16624 35
tropical clawed frog
(Silurana tropicalis)
Amphibia jagn1 35
  • 76.68 (n)
  • 80.87 (a)
Str.6009 35
zebrafish
(Danio rerio)
Actinopterygii jagn1a 35
  • 69.76 (n)
  • 74.32 (a)
jagn1a 36
  • 74 (a)
OneToMany
jagn1b 36
  • 72 (a)
OneToMany
wufb07b07 35
fruit fly
(Drosophila melanogaster)
Insecta jagn 36
  • 30 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea K05C4.2 36
  • 32 (a)
OneToOne
Species with no ortholog for JAGN1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for JAGN1 Gene

ENSEMBL:
Gene Tree for JAGN1 (if available)
TreeFam:
Gene Tree for JAGN1 (if available)

Paralogs for JAGN1 Gene

No data available for Paralogs for JAGN1 Gene

Variants for JAGN1 Gene

Sequence variations from dbSNP and Humsavar for JAGN1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs279542 -- 9,894,089(+) ATCTA(C/G)CTTAG utr-variant-3-prime
rs279543 -- 9,893,579(+) TGACC(A/G)ACAGC utr-variant-3-prime
rs279553 -- 9,892,921(-) TTGAG(A/G)GTCAC synonymous-codon, reference
rs279554 -- 9,892,547(-) GGTTA(C/T)GTGTG intron-variant
rs279555 -- 9,892,343(-) aaaaa(A/C)aaCAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for JAGN1 Gene

Variant ID Type Subtype PubMed ID
nsv834615 CNV Loss 17160897

Relevant External Links for JAGN1 Gene

HapMap Linkage Disequilibrium report
JAGN1
Human Gene Mutation Database (HGMD)
JAGN1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for JAGN1 Gene

Disorders for JAGN1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for JAGN1 Gene including...

Search for JAGN1 Gene in MalaCards »

UniProtKB/Swiss-Prot

JAGN1_HUMAN
  • Neutropenia, severe congenital 6, autosomal recessive (SCN6) [MIM:616022]: A 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. {ECO:0000269 PubMed:25129144}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with JAGN1: view

Publications for JAGN1 Gene

  1. JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia. (PMID: 25129144) Boztug K. … Klein C. (Nat. Genet. 2014) 2 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. (PMID: 15342556) Suzuki Y. … Sugano S. (Genome Res. 2004) 3
  4. Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PMID: 16303743) Otsuki T. … Isogai T. (DNA Res. 2005) 3
  5. Identification of VKORC1 interaction partners by split-ubiquitin system and coimmunoprecipitation. (PMID: 21103663) Schaafhausen A. … MA1ller C.R. (Thromb. Haemost. 2011) 3

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