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    GFRAL GDNF family receptor alpha like [ Homo sapiens (human) ]

    Gene ID: 389400, updated on 17-Jun-2024

    Summary

    Official Symbol
    GFRALprovided by HGNC
    Official Full Name
    GDNF family receptor alpha likeprovided by HGNC
    Primary source
    HGNC:HGNC:32789
    See related
    Ensembl:ENSG00000187871 MIM:617837; AllianceGenome:HGNC:32789
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GRAL; UNQ9356; C6orf144; bA360D14.1
    Summary
    Enables glial cell-derived neurotrophic factor receptor activity and receptor tyrosine kinase binding activity. Involved in glial cell-derived neurotrophic factor receptor signaling pathway; positive regulation of MAPK cascade; and positive regulation of protein kinase B signaling. Located in external side of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See GFRAL in Genome Data Viewer
    Location:
    6p12.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (55327469..55402493)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (55167078..55242077)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (55192267..55267291)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 2673 Neighboring gene family with sequence similarity 83 member B Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:54843646-54844146 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:54874207-54874707 Neighboring gene uncharacterized LOC124901491 Neighboring gene hypocretin receptor 2 Neighboring gene 3-hydroxy-3-methylglutaryl-CoA lyase like 1 Neighboring gene Sharpr-MPRA regulatory region 3486 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:55558913-55559433 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_92273 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_92293 Neighboring gene NANOG hESC enhancer GRCh37_chr6:55639263-55639806 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:55724930-55725119 Neighboring gene bone morphogenetic protein 5

    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?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables glial cell-derived neurotrophic factor receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables hormone activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables receptor tyrosine kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables signaling receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
     
    is_active_in external side of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in focal adhesion IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    GDNF family receptor alpha-like
    Names
    IVFI9356

    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_207410.2NP_997293.2  GDNF family receptor alpha-like precursor

      See identical proteins and their annotated locations for NP_997293.2

      Status: VALIDATED

      Source sequence(s)
      AL592426, AY358198
      Consensus CDS
      CCDS4957.1
      UniProtKB/Swiss-Prot
      Q5VTF6, Q6UXV0
      Related
      ENSP00000343636.2, ENST00000340465.2
      Conserved Domains (1) summary
      pfam02351
      Location:131210
      GDNF; GDNF/GAS1 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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      55327469..55402493
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      55167078..55242077
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)