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    GFY golgi associated olfactory signaling regulator [ Homo sapiens (human) ]

    Gene ID: 100507003, updated on 10-Dec-2024

    Summary

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    Official Symbol
    GFYprovided by HGNC
    Official Full Name
    golgi associated olfactory signaling regulatorprovided by HGNC
    Primary source
    HGNC:HGNC:44663
    See related
    Ensembl:ENSG00000261949 MIM:618696; AllianceGenome:HGNC:44663
    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
    Goofy
    Summary
    Predicted to be involved in sensory perception of smell. Predicted to act upstream of or within non-motile cilium assembly and protein localization to non-motile cilium. Predicted to be located in Golgi membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See GFY in Genome Data Viewer
    Location:
    19q13.33
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (49423747..49428987)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (52421178..52426566)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (49927004..49932244)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene KASH domain containing 5 Neighboring gene uncharacterized LOC124904740 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49918083-49918637 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49918638-49919191 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:49926814-49927017 Neighboring gene parathyroid hormone 2 Neighboring gene Sharpr-MPRA regulatory region 4016 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49935289-49935861 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49935862-49936433 Neighboring gene solute carrier family 17 member 7 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14938 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10915 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49954699-49955377 Neighboring gene PIH1 domain containing 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Goofy coordinates the acuity of olfactory signaling. Kaneko-Goto T, et al. J Neurosci, 2013 Aug 7. PMID 23926254, Free PMC Article
    2. The DNA sequence and biology of human chromosome 19. Grimwood J, et al. Nature, 2004 Apr 1. PMID 15057824
    3. Cell fixation improves performance of in situ crosslinking mass spectrometry while preserving cellular ultrastructure. Michael ARM, et al. Nat Commun, 2024 Oct 2. PMID 39358380, Free PMC Article

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in non-motile cilium assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein localization to non-motile cilium IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in sensory perception of smell ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    Golgi-associated olfactory signaling regulator
    Names
    Golgi protein in olfactory neurons
    protein Goofy

    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_001195256.2 → NP_001182185.1  Golgi-associated olfactory signaling regulator precursor

      See identical proteins and their annotated locations for NP_001182185.1

      Status: VALIDATED

      Source sequence(s)
      AC010619
      Consensus CDS
      CCDS58672.1
      UniProtKB/Swiss-Prot
      I3L273
      Related
      ENSP00000478493.1, ENST00000610896.3
      Conserved Domains (2) summary
      PTZ00449
      Location:43 → 311
      PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional
      pfam15672
      Location:236 → 467
      Mucin15; Cell-membrane associated Mucin15

    2. NM_001385187.1 → NP_001372116.1  Golgi-associated olfactory signaling regulator precursor

      Status: VALIDATED

      Source sequence(s)
      AC010619
      Consensus CDS
      CCDS58672.1
      UniProtKB/Swiss-Prot
      I3L273
      Related
      ENSP00000459439.1, ENST00000576655.5
      Conserved Domains (2) summary
      PTZ00449
      Location:43 → 311
      PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional
      pfam15672
      Location:236 → 467
      Mucin15; Cell-membrane associated Mucin15

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      49423747..49428987
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      52421178..52426566
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    I3L273.1 GenPept UniProtKB/Swiss-Prot:I3L273

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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    Research Materials