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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

Regulatory Elements for JAGN1 Gene

Enhancers for JAGN1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03H009883 1.8 FANTOM5 Ensembl ENCODE dbSUPER 33.8 -6.2 -6163 2 PKNOX1 ARNT TCF12 GTF3C2 ZNF766 GATA2 ATF7 FOS ZNF592 SMARCA4 CIDEC IL17RC JAGN1 BRPF1 RAD18 SETD5 GHRLOS SEC13 FANCD2 LINC00852
GH03H009861 1.8 FANTOM5 Ensembl ENCODE dbSUPER 33.6 -26.9 -26928 4 HDGF PKNOX1 ATF1 ARID4B FEZF1 DMAP1 ZNF766 ZNF143 ATF7 SP5 IL17RC JAGN1 CIDEC TADA3 IL17RE ARPC4 RNU6-882P TTLL3 ARPC4-TTLL3 CAMK1
GH03H009889 1.4 ENCODE dbSUPER 35.6 +0.3 264 2 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF207 BRPF1 RAD18 SETD5 JAGN1 FANCD2 GHRLOS TTLL3 SEC13 LINC00852 BRK1
GH03H009394 1.4 ENCODE dbSUPER 22.7 -491.6 -491563 9 MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC MEF2D GLIS1 BRPF1 RAD18 SETD5 TTLL3 SRGAP3-AS3 FANCD2 SRGAP3-AS1 THUMPD3-AS1 EMC3-AS1 JAGN1
GH03H009896 1.6 Ensembl ENCODE dbSUPER 19.2 +9.7 9654 8 HDGF PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A YBX1 DMAP1 YY1 IL17RC JAGN1 CRELD1 PRRT3-AS1 RPUSD3 PRRT3 TTLL3 ARPC4-TTLL3 TADA3 ARPC4
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around JAGN1 on UCSC Golden Path with GeneCards custom track

Promoters for JAGN1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000148327 446 1601 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF207

Genomic Location for JAGN1 Gene

Chromosome:
3
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

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.

Phenotypes From GWAS Catalog for JAGN1 Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for JAGN1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , 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 IEA,IDA 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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for JAGN1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
Organs:
Head and neck:
  • ear
  • head
  • middle ear
General:
  • blood
  • white blood cell
genes like me logo Genes that share expression patterns with JAGN1: view

Primer 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 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 Sequence Context AA Info Type
rs587777728 Pathogenic, Neutropenia, severe congenital 6, autosomal recessive (SCN6) [MIM:616022] 9,892,955(+) ACGTA(C/T)ATCTG reference, missense
rs587777729 Pathogenic, Neutropenia, severe congenital 6, autosomal recessive (SCN6) [MIM:616022] 9,890,785(+) CGGGA(G/T)CGCGT reference, missense
rs587777730 Pathogenic, Neutropenia, severe congenital 6, autosomal recessive (SCN6) [MIM:616022] 9,893,310(+) CTGGC(A/G)GTTGT reference, missense
rs777966677 Pathogenic, Neutropenia, severe congenital 6, autosomal recessive (SCN6) [MIM:616022] 9,890,781(+) GCACC(A/G)GGAGC reference, missense
rs786205704 Pathogenic, Neutropenia, severe congenital 6, autosomal recessive (SCN6) [MIM:616022] 9,890,762(+) CCGAC(A/G)GCAGC reference, missense

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)

Relevant External Links for JAGN1 Gene

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

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, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
neutropenia, severe congenital, 6, autosomal recessive
  • severe congenital neutropenia, autosomal recessive, 6
severe congenital neutropenia
  • kostmann disease
neutropenia
  • leukopenia
t cell deficiency
  • t-lymphocyte deficiency
omenn syndrome
  • combined immunodeficiency with hypereosinophilia
- 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.

Relevant External Links for JAGN1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 60
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  3. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C … Emili A (Nature 2015) 3 60
  4. A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. (PMID: 26638075) Gupta GD … Pelletier L (Cell 2015) 3 60
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 60

Products for JAGN1 Gene

Sources for JAGN1 Gene

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