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Aliases for JAGN1 Gene

Aliases for JAGN1 Gene

  • Jagunal Homolog 1 2 3 5
  • Jagunal Homolog 1 (Drosophila) 2
  • 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) is a Protein Coding gene. Diseases associated with JAGN1 include Neutropenia, Severe Congenital, 6, Autosomal Recessive and Severe Congenital Neutropenia.

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.

Additional gene information for JAGN1 Gene

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

Genomics for JAGN1 Gene

GeneHancer (GH) Regulatory Elements for JAGN1 Gene

Promoters and enhancers for JAGN1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03I009889 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 576.7 +0.3 264 2.4 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 POLR2B JAGN1 BRPF1 RAD18 SETD5 FANCD2 TTLL3 GHRLOS BRK1 PRRT3 LINC00852
GH03I009888 Enhancer 0.7 ENCODE 550.8 -1.8 -1802 0.2 SOX13 FOXA2 SAP130 CEBPG RAD21 RARA TEAD3 ZNF121 NR2F6 THAP11 JAGN1 CIDEC GC03M009835
GH03I009394 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 31.1 -491.6 -491563 9.8 CLOCK MLX FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SETD5 THUMPD3-AS1 GC03P009403 BRPF1 RAD18 GHRLOS TTLL3 FANCD2 JAGN1 SEC13
GH03I009861 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 33.6 -26.9 -26928 4.9 HDGF PKNOX1 SMAD1 ATF1 ARID4B FEZF1 DMAP1 ZNF48 POLR2B ZNF766 IL17RC JAGN1 CIDEC TADA3 IL17RE FANCD2 ARPC4 RNU6-882P THUMPD3 TTLL3
GH03I009883 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 24.8 -6.2 -6163 2.2 PKNOX1 ARNT GTF3C2 TCF12 ZNF766 GATA2 ATF7 FOS ZNF263 ZNF592 CIDEC IL17RC JAGN1 TADA3 IL17RE RPUSD3 ARPC4 GC03M009835
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around JAGN1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the JAGN1 gene promoter:

Genomic Locations for JAGN1 Gene

Genomic Locations for JAGN1 Gene
chr3:9,890,554-9,894,349
(GRCh38/hg38)
Size:
3,796 bases
Orientation:
Plus strand
chr3:9,932,238-9,936,033
(GRCh37/hg19)

Genomic View for JAGN1 Gene

Genes around JAGN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
JAGN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

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 & Families for JAGN1 Gene

Gene Families for JAGN1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

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

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
genes like me logo Genes that share phenotypes with JAGN1: view

Human Phenotype Ontology for JAGN1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for JAGN1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for JAGN1 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for JAGN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA,IEA 25129144
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with JAGN1: view

Pathways & Interactions 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:0006810 transport IEA --
GO:0006887 exocytosis TAS 25129144
GO:0007029 endoplasmic reticulum organization IEA --
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with JAGN1: view

No data available for Pathways by source and SIGNOR curated interactions for JAGN1 Gene

Drugs & Compounds for JAGN1 Gene

No Compound Related Data Available

Transcripts for JAGN1 Gene

mRNA/cDNA for JAGN1 Gene

Unigene Clusters for JAGN1 Gene

Jagunal homolog 1 (Drosophila):
Representative Sequences:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE for JAGN1 Gene

Protein differential expression in normal tissues from HIPED for JAGN1 Gene

This gene is overexpressed in Tlymphocyte (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for JAGN1 Gene



Protein tissue co-expression partners for JAGN1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of JAGN1 Gene:

JAGN1

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.

Evidence on tissue expression from TISSUES for JAGN1 Gene

  • Nervous system(2.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for JAGN1 Gene

Germ Layers:
  • endoderm
  • mesoderm
Systems:
  • immune
  • nervous
  • respiratory
Regions:
Head and neck:
  • ear
  • head
  • middle ear
General:
  • blood
  • white blood cell
genes like me logo Genes that share expression patterns with JAGN1: view

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 33 34
  • 99.27 (n)
dog
(Canis familiaris)
Mammalia JAGN1 34
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia JAGN1 33 34
  • 93.08 (n)
mouse
(Mus musculus)
Mammalia Jagn1 33 16 34
  • 92.71 (n)
rat
(Rattus norvegicus)
Mammalia Jagn1 33
  • 91.99 (n)
oppossum
(Monodelphis domestica)
Mammalia JAGN1 34
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia JAGN1 34
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia JAGN1 34
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia jagn1 33
  • 76.68 (n)
Str.6009 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.16624 33
zebrafish
(Danio rerio)
Actinopterygii jagn1b 34
  • 72 (a)
OneToMany
jagn1a 33 34
  • 69.76 (n)
wufb07b07 33
fruit fly
(Drosophila melanogaster)
Insecta jagn 34
  • 30 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea K05C4.2 34
  • 32 (a)
OneToOne
Species where no ortholog for JAGN1 was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs138937423 benign, Severe congenital neutropenia 6, autosomal recessive 9,890,743(+) G/C coding_sequence_variant, synonymous_variant
rs150797085 uncertain-significance, Severe congenital neutropenia 6, autosomal recessive 9,890,757(+) C/T coding_sequence_variant, missense_variant
rs200023062 uncertain-significance, Severe congenital neutropenia 6, autosomal recessive 9,893,036(+) C/A/T coding_sequence_variant, missense_variant
rs35365817 benign, Severe congenital neutropenia 6, autosomal recessive 9,893,069(+) A/G coding_sequence_variant, missense_variant
rs587777727 pathogenic, Severe congenital neutropenia 6, autosomal recessive, Severe congenital neutropenia 9,890,725(+) G/A initiator_codon_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
nsv589648 CNV loss 21841781
nsv834615 CNV loss 17160897

Variation tolerance for JAGN1 Gene

Residual Variation Intolerance Score: 60.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.91; 48.78% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for JAGN1 Gene

Human Gene Mutation Database (HGMD)
JAGN1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
JAGN1

SNP Genotyping and Copy Number Assay Products

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

Disorders for JAGN1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for JAGN1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
neutropenia, severe congenital, 6, autosomal recessive
  • scn6
severe congenital neutropenia
  • kostmann disease
neutropenia
  • leukopenia
t cell deficiency
  • t-lymphocyte deficiency
omenn syndrome
  • os
- elite association - COSMIC cancer census association via MalaCards
Search JAGN1 in MalaCards View complete list of genes associated with diseases

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.

Additional Disease Information for JAGN1

genes like me logo Genes that share disorders with JAGN1: view

No data available for Genatlas for JAGN1 Gene

Publications for JAGN1 Gene

  1. JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia. (PMID: 25129144) Boztug K … Klein C (Nature genetics 2014) 2 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C … Emili A (Nature 2015) 3 58
  4. A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. (PMID: 26638075) Gupta GD … Pelletier L (Cell 2015) 3 58
  5. Jagunal homolog 1 is a critical regulator of neutrophil function in fungal host defense. (PMID: 25129145) Wirnsberger G … Penninger JM (Nature genetics 2014) 3 58

Products for JAGN1 Gene

Sources for JAGN1 Gene

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