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    GRTP1 growth hormone regulated TBC protein 1 [ Homo sapiens (human) ]

    Gene ID: 79774, updated on 27-Nov-2024

    Summary

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    Official Symbol
    GRTP1provided by HGNC
    Official Full Name
    growth hormone regulated TBC protein 1provided by HGNC
    Primary source
    HGNC:HGNC:20310
    See related
    Ensembl:ENSG00000139835 MIM:620890; AllianceGenome:HGNC:20310
    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
    TBC1D6
    Summary
    Predicted to enable GTPase activator activity. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in duodenum (RPKM 6.6), small intestine (RPKM 5.5) and 19 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GRTP1 in Genome Data Viewer
    Location:
    13q34
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (113324163..113364148, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (112577719..112618348, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (113978478..114018463, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene lactate dehydrogenase B pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:113945996-113946505 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:113946506-113947014 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5543 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8037 Neighboring gene Sharpr-MPRA regulatory region 10208 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:113959050-113959215 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113967994-113968742 Neighboring gene lysosomal associated membrane protein 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113968743-113969490 Neighboring gene MAGE-like protein 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:114003074-114003239 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:114003888-114004548 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:114004549-114005209 Neighboring gene GRTP1 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 43 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:114019311-114020004 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:114020005-114020698 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:114021393-114022086 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:114027480-114028460 Neighboring gene uncharacterized LOC124903218 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:114032969-114033953 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:114047778-114048319 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5546 Neighboring gene Sharpr-MPRA regulatory region 10007 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:114059695-114060489 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:114061607-114062292 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:114064726-114065925 Neighboring gene ADP-ribosylhydrolase like 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:114071164-114072164 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:114072165-114073165 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:114075358-114076070 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:114076783-114077494 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:114080191-114080738 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:114085068-114085648 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:114100205-114101146 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8038 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:114105835-114106336

    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. Grtp1, a novel gene regulated by growth hormone. Lu C, et al. Endocrinology, 2001 Oct. PMID 11564724
    2. Identification and characterization of a novel Tre-2/Bub2/Cdc16 (TBC) protein that possesses Rab3A-GAP activity. Ishibashi K, et al. Genes Cells, 2009 Jan. PMID 19077034
    3. New gene functions in megakaryopoiesis and platelet formation. Gieger C, et al. Nature, 2011 Nov 30. PMID 22139419, Free PMC Article
    4. Identification of host proteins required for HIV infection through a functional genomic screen. Brass AL, et al. Science, 2008 Feb 15. PMID 18187620
    5. A dual-activity topoisomerase complex regulates mRNA translation and turnover. Su S, et al. Nucleic Acids Res, 2022 Jul 8. PMID 35748872, Free PMC Article

    See all (13) citations in PubMed

    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

    EBI GWAS Catalog

    Description
    New gene functions in megakaryopoiesis and platelet formation.
    EBI GWAS Catalog

    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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    Replication interactions

    Interaction Pubs
    Knockdown of growth hormone regulated TBC protein 1 (GRTP1) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl 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

    Homology

    Clone Names

    • FLJ22474, MGC138328, MGC138330

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activator activity 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
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    growth hormone-regulated TBC protein 1
    Names
    TBC1 domain family member 6

    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_001286732.2 → NP_001273661.1  growth hormone-regulated TBC protein 1 isoform 2

      See identical proteins and their annotated locations for NP_001273661.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks a 3' coding exon and its 3' terminal exon extends past a splice site that is used in variant 1, resulting in a distinct 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is longer than isoform 1.
      Source sequence(s)
      AB449887, AK026127, CX788865
      Consensus CDS
      CCDS66591.1
      UniProtKB/TrEMBL
      B4DV24
      Related
      ENSP00000364579.4, ENST00000375430.8
      Conserved Domains (1) summary
      smart00164
      Location:65 → 278
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    2. NM_001286733.1 → NP_001273662.1  growth hormone-regulated TBC protein 1 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks two alternate exons in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (3) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AL136221, AW243250, BC062461, BQ689859, CX788865
      Consensus CDS
      CCDS73606.1
      UniProtKB/TrEMBL
      A0A087X0Y1
      Related
      ENSP00000483734.1, ENST00000620217.4
      Conserved Domains (1) summary
      cl02495
      Location:65 → 187
      RabGAP-TBC; Rab-GTPase-TBC domain

    3. NM_001411029.1 → NP_001397958.1  growth hormone-regulated TBC protein 1 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AL136221
      Consensus CDS
      CCDS91839.1
      Related
      ENSP00000321850.3, ENST00000326039.3

    4. NM_024719.4 → NP_078995.2  growth hormone-regulated TBC protein 1 isoform 1

      See identical proteins and their annotated locations for NP_078995.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AL136221, AW243250, BC062461, CX788865
      Consensus CDS
      CCDS9534.2
      UniProtKB/Swiss-Prot
      B9A6K2, Q2M232, Q5TC63, Q5TC64, Q66K26, Q6P659, Q8N528, Q9H695
      UniProtKB/TrEMBL
      B4DV24
      Related
      ENSP00000364580.3, ENST00000375431.9
      Conserved Domains (1) summary
      smart00164
      Location:65 → 278
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    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_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      113324163..113364148 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      112577719..112618348 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5TC63.4 GenPept UniProtKB/Swiss-Prot:Q5TC63

    Gene LinkOut

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

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