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

Summary

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

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_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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?
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.
4EHP and GIGYF1/2 Mediate Translation-Coupled Messenger RNA Decay.
Title: 4EHP and GIGYF1/2 Mediate Translation-Coupled Messenger RNA Decay.
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.
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.

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Phenotypes

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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

GDB:4585735 (e-PCR)
- UniSTS:51211

REN77196 (e-PCR)
- UniSTS:401996

RH103866 (e-PCR)
- UniSTS:98191

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

NG_053106.1 RefSeqGene

Range

5033..19776

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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.
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.
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.
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.
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.
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.
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.
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.
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.
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.