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

Gene ID: 100507003, updated on 27-Aug-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 apparatus. Predicted to be integral component of Golgi membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Low expression observed in reference dataset See more
Orthologs
mouse all
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Genomic context

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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)
105.20220307 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: HPA RNA-seq normal tissues 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

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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

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)

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

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Research Materials