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GTPBP8 GTP binding protein 8 (putative) [ Homo sapiens (human) ]

Gene ID: 29083, updated on 1-Mar-2024

Summary

Official Symbol
GTPBP8provided by HGNC
Official Full Name
GTP binding protein 8 (putative)provided by HGNC
Primary source
HGNC:HGNC:25007
See related
Ensembl:ENSG00000163607 AllianceGenome:HGNC:25007
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
HSPC135
Summary
Predicted to enable GTP binding activity and metal ion binding activity. Located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 4.6), thyroid (RPKM 3.8) and 25 other tissues See more
Orthologs
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Genomic context

See GTPBP8 in Genome Data Viewer
Location:
3q13.2
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (112990984..113001969)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (115711946..115722926)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (112709831..112720816)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene CD200R1 pseudogene 1 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_64462 Neighboring gene CD200 receptor 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:112709373-112710000 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20247 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14605 Neighboring gene nucleolus and neural progenitor protein Neighboring gene NEPRO antisense RNA 1 Neighboring gene DNAJB1 peudogene 2

Genomic regions, transcripts, and products

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTP binding IEA
Inferred from Electronic Annotation
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 

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_014170.4NP_054889.2  GTP-binding protein 8 isoform 1

    See identical proteins and their annotated locations for NP_054889.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC074044, AF161484, AI367201, BC000003, CA429378
    Consensus CDS
    CCDS33820.1
    UniProtKB/Swiss-Prot
    A6NE99, A6NN11, A8K0P6, Q5I0Y4, Q8N3Z3
    UniProtKB/TrEMBL
    E7EV33, Q9P025
    Related
    ENSP00000373176.2, ENST00000383678.8
    Conserved Domains (1) summary
    cd01876
    Location:112280
    YihA_EngB; YihA (EngB) GTPase family
  2. NM_138485.2NP_612494.1  GTP-binding protein 8 isoform 2

    See identical proteins and their annotated locations for NP_612494.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon compared to variant 1, resulting in an isoform (2) that is missing an internal segment compared to isoform 1.
    Source sequence(s)
    AC074044, AI367201, BI830308, BX354218, CA429378
    Consensus CDS
    CCDS33821.1
    UniProtKB/TrEMBL
    E7EV33, Q9P025
    Related
    ENSP00000373175.3, ENST00000383677.7
    Conserved Domains (1) summary
    cd01876
    Location:113247
    YihA_EngB; YihA (EngB) GTPase family

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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    112990984..113001969
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047448046.1XP_047304002.1  GTP-binding protein 8 isoform X1

    UniProtKB/TrEMBL
    F8WBY6
    Related
    ENSP00000418261.1, ENST00000488781.5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    115711946..115722926
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054346366.1XP_054202341.1  GTP-binding protein 8 isoform X1

    UniProtKB/TrEMBL
    F8WBY6

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001008235.1: Suppressed sequence

    Description
    NM_001008235.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
  2. NM_001008236.1: Suppressed sequence

    Description
    NM_001008236.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.