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    GIGYF1 GRB10 interacting GYF protein 1 [ Homo sapiens (human) ]

    Gene ID: 64599, updated on 10-Dec-2024

    Summary

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    Official Symbol
    GIGYF1provided by HGNC
    Official Full Name
    GRB10 interacting GYF protein 1provided by HGNC
    Primary source
    HGNC:HGNC:9126
    See related
    Ensembl:ENSG00000146830 MIM:612064; AllianceGenome:HGNC:9126
    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
    GYF1; PERQ1
    Summary
    This gene encodes a member of the gyf family of adaptor proteins. The encoded protein contains a gyf protein interaction domain. It binds growth factor receptor bound 10, another adaptor protein that binds activated insulin-like growth factor 1 and insulin receptors and regulates receptor signaling. [provided by RefSeq, Apr 2017]
    Expression
    Ubiquitous expression in testis (RPKM 15.6), endometrium (RPKM 14.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GIGYF1 in Genome Data Viewer
    Location:
    7q22.1
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (100679507..100694250, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (101919586..101934327, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (100277130..100291873, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375429 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18454 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18455 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18456 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26379 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26380 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18457 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18458 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26381 Neighboring gene G protein subunit beta 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18459 Neighboring gene CRISPRi-validated cis-regulatory element chr7.3567 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100292979-100293782 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26382 Neighboring gene POP7 homolog, ribonuclease P/MRP subunit Neighboring gene erythropoietin

    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. Low Expression of GIGYF1 Inhibits Metastasis, Proliferation, and Promotes Apoptosis and Autophagy of Gastric Cancer Cells. Zhu L, et al. Int J Med Sci, 2023. PMID 37484805, Free PMC Article
    2. GIGYF1 loss of function is associated with clonal mosaicism and adverse metabolic health. Zhao Y, et al. Nat Commun, 2021 Jul 7. PMID 34234147, Free PMC Article
    3. Gene-level analysis of rare variants in 379,066 whole exome sequences identifies an association of GIGYF1 loss of function with type 2 diabetes. Deaton AM, et al. Sci Rep, 2021 Nov 3. PMID 34732801, Free PMC Article
    4. The GYF domain. Kofler MM, et al. FEBS J, 2006 Jan. PMID 16403013
    5. GIGYF1-disturbed IGF-1R recycling: a potential contributor to autism spectrum disorder pathogenesis? Xing M, et al. J Clin Invest, 2022 Oct 3. PMID 36189799, Free PMC Article

    See all (53) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Genetic Ablation of GIGYF1, Associated With Autism, Causes Behavioral and Neurodevelopmental Defects in Zebrafish and Mice.
      Title: Genetic Ablation of GIGYF1, Associated With Autism, Causes Behavioral and Neurodevelopmental Defects in Zebrafish and Mice.
    2. Low Expression of GIGYF1 Inhibits Metastasis, Proliferation, and Promotes Apoptosis and Autophagy of Gastric Cancer Cells.
      Title: Low Expression of GIGYF1 Inhibits Metastasis, Proliferation, and Promotes Apoptosis and Autophagy of Gastric Cancer Cells.
    3. GIGYF1-disturbed IGF-1R recycling: a potential contributor to autism spectrum disorder pathogenesis?
      Title: GIGYF1-disturbed IGF-1R recycling: a potential contributor to autism spectrum disorder pathogenesis?
    4. Gene-level analysis of rare variants in 379,066 whole exome sequences identifies an association of GIGYF1 loss of function with type 2 diabetes.
      Title: Gene-level analysis of rare variants in 379,066 whole exome sequences identifies an association of GIGYF1 loss of function with type 2 diabetes.
    5. 4EHP and GIGYF1/2 Mediate Translation-Coupled Messenger RNA Decay.
      Title: 4EHP and GIGYF1/2 Mediate Translation-Coupled Messenger RNA Decay.
    6. GIGYF1 loss of function is associated with clonal mosaicism and adverse metabolic health.
      Title: GIGYF1 loss of function is associated with clonal mosaicism and adverse metabolic health.
    7. the apparent occurrence of an unusual TG 3' splice site in intron 8 is discussed
      Title: Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns.
    Submit: New GeneRIF Correction

    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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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in insulin-like growth factor receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    GRB10-interacting GYF protein 1
    Names
    PERQ amino acid-rich with GYF domain-containing protein 1
    postmeiotic segregation increased 2-like 12

    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.

    Genomic

    1. NG_053106.1 RefSeqGene

      Range
      5033..19776
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001375759.1 → NP_001362688.1  GRB10-interacting GYF protein 1 isoform a

      Status: REVIEWED

      Source sequence(s)
      AC009488
      Conserved Domains (1) summary
      cd00072
      Location:476 → 529
      GYF; GYF domain: contains conserved Gly-Tyr-Phe residues; Proline-binding domain in CD2-binding and other proteins. Involved in signaling lymphocyte activity. Also present in other unrelated proteins (mainly unknown) derived from diverse eukaryotic species.

    2. NM_001375760.1 → NP_001362689.1  GRB10-interacting GYF protein 1 isoform a

      Status: REVIEWED

      Source sequence(s)
      AC009488
      Conserved Domains (1) summary
      cd00072
      Location:476 → 529
      GYF; GYF domain: contains conserved Gly-Tyr-Phe residues; Proline-binding domain in CD2-binding and other proteins. Involved in signaling lymphocyte activity. Also present in other unrelated proteins (mainly unknown) derived from diverse eukaryotic species.

    3. NM_001375761.1 → NP_001362690.1  GRB10-interacting GYF protein 1 isoform a

      Status: REVIEWED

      Source sequence(s)
      AC009488
      Conserved Domains (1) summary
      cd00072
      Location:476 → 529
      GYF; GYF domain: contains conserved Gly-Tyr-Phe residues; Proline-binding domain in CD2-binding and other proteins. Involved in signaling lymphocyte activity. Also present in other unrelated proteins (mainly unknown) derived from diverse eukaryotic species.

    4. NM_001375762.1 → NP_001362691.1  GRB10-interacting GYF protein 1 isoform a

      Status: REVIEWED

      Source sequence(s)
      AC009488
      Conserved Domains (1) summary
      cd00072
      Location:476 → 529
      GYF; GYF domain: contains conserved Gly-Tyr-Phe residues; Proline-binding domain in CD2-binding and other proteins. Involved in signaling lymphocyte activity. Also present in other unrelated proteins (mainly unknown) derived from diverse eukaryotic species.

    5. NM_001375763.1 → NP_001362692.1  GRB10-interacting GYF protein 1 isoform a

      Status: REVIEWED

      Source sequence(s)
      AC009488
      Conserved Domains (1) summary
      cd00072
      Location:476 → 529
      GYF; GYF domain: contains conserved Gly-Tyr-Phe residues; Proline-binding domain in CD2-binding and other proteins. Involved in signaling lymphocyte activity. Also present in other unrelated proteins (mainly unknown) derived from diverse eukaryotic species.

    6. NM_001375764.1 → NP_001362693.1  GRB10-interacting GYF protein 1 isoform a

      Status: REVIEWED

      Source sequence(s)
      AC009488
      Conserved Domains (1) summary
      cd00072
      Location:476 → 529
      GYF; GYF domain: contains conserved Gly-Tyr-Phe residues; Proline-binding domain in CD2-binding and other proteins. Involved in signaling lymphocyte activity. Also present in other unrelated proteins (mainly unknown) derived from diverse eukaryotic species.

    7. NM_001375765.1 → NP_001362694.1  GRB10-interacting GYF protein 1 isoform b

      Status: REVIEWED

      Source sequence(s)
      AC009488
      Consensus CDS
      CCDS34708.1
      UniProtKB/Swiss-Prot
      O75420, Q6Y7W7, Q8WZ38
      Related
      ENSP00000503354.1, ENST00000678049.1
      Conserved Domains (1) summary
      cd00072
      Location:476 → 529
      GYF; GYF domain: contains conserved Gly-Tyr-Phe residues; Proline-binding domain in CD2-binding and other proteins. Involved in signaling lymphocyte activity. Also present in other unrelated proteins (mainly unknown) derived from diverse eukaryotic species.

    8. NM_001375766.1 → NP_001362695.1  GRB10-interacting GYF protein 1 isoform b

      Status: REVIEWED

      Source sequence(s)
      AC009488
      Consensus CDS
      CCDS34708.1
      UniProtKB/Swiss-Prot
      O75420, Q6Y7W7, Q8WZ38
      Related
      ENSP00000494292.1, ENST00000646601.1
      Conserved Domains (1) summary
      cd00072
      Location:476 → 529
      GYF; GYF domain: contains conserved Gly-Tyr-Phe residues; Proline-binding domain in CD2-binding and other proteins. Involved in signaling lymphocyte activity. Also present in other unrelated proteins (mainly unknown) derived from diverse eukaryotic species.

    9. NM_001375767.1 → NP_001362696.1  GRB10-interacting GYF protein 1 isoform c

      Status: REVIEWED

      Source sequence(s)
      AC009488
      Conserved Domains (1) summary
      cd00072
      Location:476 → 529
      GYF; GYF domain: contains conserved Gly-Tyr-Phe residues; Proline-binding domain in CD2-binding and other proteins. Involved in signaling lymphocyte activity. Also present in other unrelated proteins (mainly unknown) derived from diverse eukaryotic species.

    10. NM_001375768.1 → NP_001362697.1  GRB10-interacting GYF protein 1 isoform d

      Status: REVIEWED

      Source sequence(s)
      AC009488
      Conserved Domains (1) summary
      cd00072
      Location:476 → 529
      GYF; GYF domain: contains conserved Gly-Tyr-Phe residues; Proline-binding domain in CD2-binding and other proteins. Involved in signaling lymphocyte activity. Also present in other unrelated proteins (mainly unknown) derived from diverse eukaryotic species.

    RNA

    1. NR_164719.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC009488

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      100679507..100694250 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      101919586..101934327 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_022574.5: Suppressed sequence

      Description
      NM_022574.5: This RefSeq was removed because it retains intronic sequence.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O75420.2 GenPept UniProtKB/Swiss-Prot:O75420

    Gene LinkOut

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

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