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JAGN1 jagunal homolog 1 [ Homo sapiens (human) ]

Gene ID: 84522, updated on 15-Jun-2019

Summary

Official Symbol
JAGN1provided by HGNC
Official Full Name
jagunal homolog 1provided by HGNC
Primary source
HGNC:HGNC:26926
See related
Ensembl:ENSG00000171135 MIM:616012
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SCN6; GL009
Summary
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]
Expression
Ubiquitous expression in adrenal (RPKM 15.3), liver (RPKM 12.7) and 25 other tissues See more
Orthologs

Genomic context

See JAGN1 in Genome Data Viewer
Location:
3p25.3
Exon count:
2
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (9890587..9894349)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (9932271..9936033)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene microtubule affinity regulating kinase 2 pseudogene 1 Neighboring gene cell death inducing DFFA like effector c Neighboring gene interleukin 17 receptor E Neighboring gene RNA, U6 small nuclear 882, pseudogene Neighboring gene interleukin 17 receptor C

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ14602

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cellular response to tunicamycin IEA
Inferred from Electronic Annotation
more info
 
defense response to fungus IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum organization IEA
Inferred from Electronic Annotation
more info
 
exocytosis TAS
Traceable Author Statement
more info
PubMed 
granulocyte colony-stimulating factor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of insulin secretion involved in cellular response to glucose stimulus IEA
Inferred from Electronic Annotation
more info
 
neutrophil differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
neutrophil mediated immunity IEA
Inferred from Electronic Annotation
more info
 
neutrophil migration IEA
Inferred from Electronic Annotation
more info
 
protein transport IEA
Inferred from Electronic Annotation
more info
 
vesicle-mediated transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_041779.1 RefSeqGene

    Range
    5024..8763
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1228

mRNA and Protein(s)

  1. NM_001363890.1NP_001350819.1  protein jagunal homolog 1 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 3' terminal exon and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to isoform a
    Source sequence(s)
    AA310892, AW001569, BC008507, BP262753, BU674942
    Conserved Domains (1) summary
    pfam07086
    Location:1120
    Jagunal; ER re-organisation during oogenesis
  2. NM_032492.4NP_115881.3  protein jagunal homolog 1 isoform a

    See identical proteins and their annotated locations for NP_115881.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (a).
    Source sequence(s)
    BC008507, BP262753, BU674942
    Consensus CDS
    CCDS2588.1
    UniProtKB/Swiss-Prot
    Q8N5M9
    Related
    ENSP00000306106.4, ENST00000307768.5
    Conserved Domains (1) summary
    pfam07086
    Location:1174
    Jagunal; Jagunal, ER re-organisation during oogenesis

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    9890610..9894349
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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