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ARTN artemin [ Homo sapiens (human) ]

Gene ID: 9048, updated on 21-Dec-2019

Summary

Official Symbol
ARTNprovided by HGNC
Official Full Name
arteminprovided by HGNC
Primary source
HGNC:HGNC:727
See related
Ensembl:ENSG00000117407 MIM:603886
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
ART; EVN; NBN; ENOVIN
Summary
This gene encodes a secreted ligand of the glial cell line-derived neurotrophic factor (GDNF) subfamily and TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein signals through the RET receptor and GFR alpha 3 coreceptor, and supports the survival of a number of peripheral neuron populations and at least one population of dopaminergic CNS neurons. This protein has also been shown to promote tumor growth, metastasis, and drug resistance in mammary carcinoma. [provided by RefSeq, Aug 2016]
Expression
Broad expression in placenta (RPKM 1.0), prostate (RPKM 0.9) and 20 other tissues See more
Orthologs

Genomic context

See ARTN in Genome Data Viewer
Location:
1p34.1
Exon count:
5
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (43933320..43937240)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (44398992..44402912)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ST3 beta-galactoside alpha-2,3-sialyltransferase 3 Neighboring gene serine hydroxymethyltransferase 1 (soluble) pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 11119 Neighboring gene uncharacterized LOC105378688 Neighboring gene uncharacterized LOC101929609 Neighboring gene importin 13

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 Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
growth factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
signaling receptor binding TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
MAPK cascade TAS
Traceable Author Statement
more info
 
Peyer's patch morphogenesis IEA
Inferred from Electronic Annotation
more info
 
axon guidance TAS
Traceable Author Statement
more info
 
induction of positive chemotaxis IEA
Inferred from Electronic Annotation
more info
 
lymphocyte migration into lymphoid organs IEA
Inferred from Electronic Annotation
more info
 
neuroblast proliferation TAS
Traceable Author Statement
more info
PubMed 
peripheral nervous system development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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.

mRNA and Protein(s)

  1. NM_001136215.2NP_001129687.1  artemin isoform 3

    See identical proteins and their annotated locations for NP_001129687.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and uses an alternate in-frame splice site in the coding region, compared to variant 2. The encoded isoform (3) is longer and lacks a predicted signal peptide compared to isoform 1. Both variants 4 and 5 encode the same isoform (3).
    Source sequence(s)
    AF120274, BC062375
    Consensus CDS
    CCDS502.1
    UniProtKB/Swiss-Prot
    Q5T4W7
    Related
    ENSP00000436727.1, ENST00000498139.6
    Conserved Domains (1) summary
    pfam00019
    Location:129226
    TGF_beta; Transforming growth factor beta like domain
  2. NM_057090.2NP_476431.2  artemin isoform 3

    See identical proteins and their annotated locations for NP_476431.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate in-frame splice site in the coding region, compared to variant 2. The encoded isoform (3) is longer and lacks a predicted signal peptide compared to isoform 1. Both variants 4 and 5 encode the same isoform (3).
    Source sequence(s)
    AF120274, AL357079, BC062375
    Consensus CDS
    CCDS502.1
    UniProtKB/Swiss-Prot
    Q5T4W7
    Related
    ENSP00000387435.3, ENST00000414809.7
    Conserved Domains (1) summary
    pfam00019
    Location:129226
    TGF_beta; Transforming growth factor beta like domain
  3. NM_057091.3NP_476432.2  artemin isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_476432.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) encodes the shorter isoform (1).
    Source sequence(s)
    AF120274, BC062375
    Consensus CDS
    CCDS501.1
    UniProtKB/Swiss-Prot
    Q5T4W7
    Related
    ENSP00000361434.5, ENST00000372359.10
    Conserved Domains (1) summary
    pfam00019
    Location:121218
    TGF_beta; Transforming growth factor beta like domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    43933320..43937240
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_003976.3: Suppressed sequence

    Description
    NM_003976.3: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
  2. NM_057160.2: Suppressed sequence

    Description
    NM_057160.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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