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

Gene ID: 79774, updated on 5-Mar-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 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. Predicted to be involved in activation of GTPase activity and intracellular protein transport. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in duodenum (RPKM 6.6), small intestine (RPKM 5.5) and 19 other tissues See more
Orthologs
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Genomic context

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Location:
13q34
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (113324163..113364148, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (112577719..112618348, complement)
105.20220307 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. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. Fei T, et al. Proc Natl Acad Sci U S A, 2017 Jun 27. PMID 28611215, Free PMC Article

See all (12) 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)

Genotypes

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
  
Process Evidence Code Pubs
involved_in activation of GTPase activity 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_2023_10

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

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