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

Gene ID: 389400, updated on 10-Dec-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 GDF15-GFRAL signaling pathway; positive regulation of MAPK cascade; and positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction. Located in several cellular components, including actin cytoskeleton; focal adhesion; and nucleoplasm. [provided by Alliance of Genome Resources, Dec 2024]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See GFRAL in Genome Data Viewer
Location:
6p12.1
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (55327469..55402493)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (55167078..55242077)
RS_2024_09 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

General gene information

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables glial cell-derived neurotrophic factor receptor activity PubMed 
enables hormone activity  
enables protein binding PubMed 
enables receptor tyrosine kinase binding PubMed 
enables signaling receptor activity  
Component Evidence Code Pubs
located_in actin cytoskeleton  
is_active_in external side of plasma membrane  
located_in focal adhesion  
located_in nucleoplasm  
located_in plasma membrane PubMed 
part_of receptor complex  

General protein information

Preferred Names
GDNF family receptor alpha-like
Names
IVFI9356

NCBI Reference Sequences (RefSeq)

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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_2024_08

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)
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