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    ARTN artemin [ Homo sapiens (human) ]

    Gene ID: 9048, updated on 13-Apr-2024

    Summary

    Official Symbol
    ARTNprovided by HGNC
    Official Full Name
    arteminprovided by HGNC
    Primary source
    HGNC:HGNC:727
    See related
    Ensembl:ENSG00000117407 MIM:603886; AllianceGenome:HGNC:727
    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
    NEW
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    Try the new Transcript table

    Genomic context

    Location:
    1p34.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (43933801..43937240)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (43802329..43808317)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (44399473..44402912)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ST3 beta-galactoside alpha-2,3-sialyltransferase 3 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:44306354-44307342 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:44307343-44308331 Neighboring gene microRNA 6079 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:44323792-44324410 Neighboring gene SHMT1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 925 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:44336631-44337131 Neighboring gene Sharpr-MPRA regulatory region 749 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:44365355-44366213 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:44379389-44380204 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:44386271-44387086 Neighboring gene Sharpr-MPRA regulatory region 11119 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 926 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:44397735-44398235 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 927 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 792 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 793 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:44401004-44401598 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:44401599-44402193 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 795 Neighboring gene uncharacterized LOC101929609 Neighboring gene long intergenic non-protein coding RNA 2918

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables glial cell-derived neurotrophic factor receptor binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables growth factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables growth factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables receptor tyrosine kinase binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables signaling receptor binding TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in Peyer's patch morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in axon guidance IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glial cell-derived neurotrophic factor receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in induction of positive chemotaxis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lymphocyte migration into lymphoid organs IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuroblast proliferation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in peripheral nervous system development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_057090.3NP_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, 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
      D3DPY1, D3DPY3, O95441, O96030, Q5T4W7, Q6P6A3
      Related
      ENSP00000361434.5, ENST00000372359.10
      Conserved Domains (1) summary
      pfam00019
      Location:121218
      TGF_beta; Transforming growth factor beta like domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      43933801..43937240
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047433657.1XP_047289613.1  artemin isoform X1

    2. XM_047433665.1XP_047289621.1  artemin isoform X2

      UniProtKB/Swiss-Prot
      D3DPY1, D3DPY3, O95441, O96030, Q5T4W7, Q6P6A3
      Related
      ENSP00000361429.3, ENST00000372354.3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      43802329..43808317
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054339510.1XP_054195485.1  artemin isoform X1

    2. XM_054339511.1XP_054195486.1  artemin isoform X2

    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.