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    GRAPL GRB2 related adaptor protein like [ Homo sapiens (human) ]

    Gene ID: 400581, updated on 9-Dec-2024

    Summary

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    Official Symbol
    GRAPLprovided by HGNC
    Official Full Name
    GRB2 related adaptor protein likeprovided by HGNC
    Primary source
    HGNC:HGNC:37240
    See related
    Ensembl:ENSG00000189152 AllianceGenome:HGNC:37240
    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
    GRAPLDR
    Summary
    Predicted to enable receptor tyrosine kinase binding activity and signaling adaptor activity. Predicted to be involved in cell migration and enzyme-linked receptor protein signaling pathway. Predicted to be located in cytosol. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in spleen (RPKM 4.2), lymph node (RPKM 2.8) and 13 other tissues See more
    Orthologs
    all
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    Genomic context

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    See GRAPL in Genome Data Viewer
    Location:
    17p11.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (19127589..19159187)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (19040890..19076910, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (19030902..19062500)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA, C/D box 3D Neighboring gene uncharacterized LOC124903946 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:19026149-19026648 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:19030843-19031574 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:19044151-19044752 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:19044753-19045353 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:19046411-19046923 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:19047949-19048460 Neighboring gene GRAPL antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:19061738-19062263 Neighboring gene kynureninase pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:19079065-19079566 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:19079567-19080066 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8284 Neighboring gene small nucleolar RNA, C/D box 3A

    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
    • 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. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article
    2. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article
    3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
    4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    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

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables receptor tyrosine kinase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables signaling adaptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in cell migration IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in enzyme-linked receptor protein signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    GRB2-related adapter protein-like
    Names
    GRAPL long non-coding downstream RNA
    GRB2-related adapter protein LOC400581

    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_001129778.3 → NP_001123250.1  GRB2-related adapter protein-like isoform 1

      See identical proteins and their annotated locations for NP_001123250.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC007952
      Consensus CDS
      CCDS45627.1
      UniProtKB/Swiss-Prot
      B2RXI8, Q8TC17
      Related
      ENSP00000437409.2, ENST00000344415.9
      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

    2. NM_001353418.2 → NP_001340347.1  GRB2-related adapter protein-like isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice junction in the 3' coding sequence compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC007952
      Related
      ENSP00000466091.1, ENST00000577213.1
      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 → 100
      SH2; Src homology 2 (SH2) domain

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      19127589..19159187
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017024636.3 → XP_016880125.1  GRB2-related adapter protein-like isoform X2

    2. XM_011523857.4 → XP_011522159.1  GRB2-related adapter protein-like isoform X1

      UniProtKB/TrEMBL
      J3QRP9, K7EIX7
      Related
      ENSP00000464934.2, ENST00000583540.2
      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 → 100
      SH2; Src homology 2 (SH2) domain

    RNA

    1. XR_007065298.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      19040890..19076910 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316107.1 → XP_054172082.1  GRB2-related adapter protein-like isoform X1

      UniProtKB/TrEMBL
      J3QRP9, K7EIX7
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TC17.3 GenPept UniProtKB/Swiss-Prot:Q8TC17

    Gene LinkOut

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

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