GRAP GRB2 related adaptor protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: GRAPprovided by HGNC
Official Full Name: GRB2 related adaptor proteinprovided by HGNC
Primary source: HGNC:HGNC:4562
See related: Ensembl:ENSG00000154016 MIM:604330; AllianceGenome:HGNC:4562
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: DFNB114
Summary: This gene encodes a member of the GRB2/Sem5/Drk family and functions as a cytoplasmic signaling protein which contains an SH2 domain flanked by two SH3 domains. The SH2 domain interacts with ligand-activated receptors for stem cell factor and erythropoietin, and facilitates the formation of a stable complex with the BCR-ABL oncoprotein. This protein also associates with the Ras guanine nucleotide exchange factor SOS1 (son of sevenless homolog 1) through its N-terminal SH3 domain. In general, it couples signals from receptor and cytoplasmic tyrosine kinases to the Ras signaling pathway. [provided by RefSeq, Jul 2012]
Expression: Broad expression in lymph node (RPKM 19.4), spleen (RPKM 17.2) and 19 other tissues See more
Orthologs: all
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Genomic context

Location:: 17p11.2

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (19020656..19051373, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (18968549..18999272, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (18923969..18950270, complement)

Chromosome 17 - NC_000017.11 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 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?

m(6)A Modification-mediated GRAP Regulates Vascular Remodeling in Hypoxic Pulmonary Hypertension.
Title: m(6)A Modification-mediated GRAP Regulates Vascular Remodeling in Hypoxic Pulmonary Hypertension.
The function of the growth factor receptor-bound protein 2 (GRB2)-related adaptor protein (GRAP) in the auditory system is not known.
Title: Dysfunction of GRAP, encoding the GRB2-related adaptor protein, is linked to sensorineural hearing loss.
Findings suggest that the miR-654-5p/GRAP/Ras/Erk signaling pathway in OSCC cells might contribute to the underlying mechanism through which miR-654-5p participates in the regulation of OSCC progression.
Title: miR-654-5p Targets GRAP to Promote Proliferation, Metastasis, and Chemoresistance of Oral Squamous Cell Carcinoma Through Ras/MAPK Signaling.
Grb2-related adaptor protein (GRAP) was up-regulated in kidney tubules from fibrotic kidneys from diabetic patients, and subsequently confirmed as a novel component of TGF-beta signaling in cultured human renal tubule cells.
Title: Quantitative mass spectrometry of diabetic kidney tubules identifies GRAP as a novel regulator of TGF-beta signaling.
Our findings define a pathway involving CD28 binding to Grb-2 and its co-operativity with Vav1 in the regulation of T-cell co-stimulation.
Title: CD28 and Grb-2, relative to Gads or Grap, preferentially co-operate with Vav1 in the activation of NFAT/AP-1 transcription.
Observational study of genotype prevalence. (HuGE Navigator)
Title: Polymorphisms of four bone mineral density candidate genes in Chinese populations and comparison with other populations of different ethnicity.
Results suggest that the GRAP gene might have a role in the pathogenesis of Sjogren's syndrome.
Title: Detection of Grb-2-related adaptor protein gene (GRAP) and peptide molecule in salivary glands of MRL/lpr mice and patients with Sjögren's syndrome.

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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

Associated conditions

Description	Tests
Hearing loss, autosomal recessive 114 MedGen: C5193107 OMIM: 618456 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Vif	vif	HIV-1 Vif downregulates the expression of GRB2-related adaptor protein (GRAP) in Vif-expression T cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MARC_4617-4618:966894528:1 (e-PCR)
- UniSTS:269410

AF021121 (e-PCR)
- UniSTS:34938

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables epidermal growth factor receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables phosphotyrosine residue binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Ras protein signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in cell-cell signaling	TAS Traceable Author Statement more info	PubMed
involved_in regulation of MAPK cascade	IBA Inferred from Biological aspect of Ancestor more info
involved_in sensory perception of sound	IDA Inferred from Direct Assay more info	PubMed
involved_in signal transduction	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of COP9 signalosome	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
is_active_in nucleoplasm	IBA Inferred from Biological aspect of Ancestor more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in presynapse	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: GRB2-related adapter protein

Names: growth factor receptor-bound protein 2-related adaptor protein

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)

NM_001330148.2 → NP_001317077.1 GRB2-related adapter protein isoform 2

Status: REVIEWED

Source sequence(s)

AI362516, BC035856, BG684099, BI906472

Consensus CDS

CCDS82085.1

UniProtKB/TrEMBL

I3L2P9

Related

ENSP00000459833.1, ENST00000573099.5

Conserved Domains (2) summary

cd11948
Location:2 → 55

SH3_GRAP_N; N-terminal Src homology 3 domain of GRB2-related adaptor protein

cl15255
Location:56 → 101

SH2; Src homology 2 (SH2) domain
NM_006613.4 → NP_006604.1 GRB2-related adapter protein isoform 1

See identical proteins and their annotated locations for NP_006604.1

Status: REVIEWED

Source sequence(s)

AC003957, BC063035

Consensus CDS

CCDS11202.1

UniProtKB/Swiss-Prot

Q13588

Related

ENSP00000284154.5, ENST00000284154.10

Conserved Domains (3) summary

cd09941
Location:56 → 150

SH2_Grb2_like; Src homology 2 domain found in Growth factor receptor-bound protein 2 (Grb2) and similar proteins

cd11948
Location:2 → 55

SH3_GRAP_N; N-terminal Src homology 3 domain of GRB2-related adaptor protein

cd11951
Location:162 → 214

SH3_GRAP_C; C-terminal Src homology 3 domain of GRB2-related adaptor protein

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

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

19020656..19051373 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047435154.1 → XP_047291110.1 GRB2-related adapter protein isoform X1

UniProtKB/Swiss-Prot

Q13588
XM_047435155.1 → XP_047291111.1 GRB2-related adapter protein isoform X2

UniProtKB/TrEMBL

I3L2P9
XM_047435156.1 → XP_047291112.1 GRB2-related adapter protein isoform X3

Alternate T2T-CHM13v2.0

Genomic

NC_060941.1 Alternate T2T-CHM13v2.0

Range

18968549..18999272 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054314746.1 → XP_054170721.1 GRB2-related adapter protein isoform X1

UniProtKB/Swiss-Prot

Q13588
XM_054314747.1 → XP_054170722.1 GRB2-related adapter protein isoform X2

UniProtKB/TrEMBL

I3L2P9
XM_054314748.1 → XP_054170723.1 GRB2-related adapter protein isoform X3