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GPN3 GPN-loop GTPase 3 [ Homo sapiens (human) ]

Gene ID: 51184, updated on 13-Mar-2020

Summary

Official Symbol
GPN3provided by HGNC
Official Full Name
GPN-loop GTPase 3provided by HGNC
Primary source
HGNC:HGNC:30186
See related
Ensembl:ENSG00000111231
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
ATPBD1C
Expression
Ubiquitous expression in testis (RPKM 19.7), fat (RPKM 10.4) and 25 other tissues See more
Orthologs

Genomic context

See GPN3 in Genome Data Viewer
Location:
12q24.11
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (110452486..110468721, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (110890291..110906667, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene high mobility group AT-hook 1 pseudogene 3 Neighboring gene actin related protein 2/3 complex subunit 3 Neighboring gene ribosomal protein L31 pseudogene 49 Neighboring gene family with sequence similarity 216 member A Neighboring gene VPS29 retromer complex component Neighboring gene RAD9 checkpoint clamp component B Neighboring gene protein phosphatase targeting COQ7 Neighboring gene HNF4 motif-containing MPRA enhancer 250

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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC14560, MGC32810

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTP binding IEA
Inferred from Electronic Annotation
more info
 
GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
protein-containing complex IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
GPN-loop GTPase 3
Names
ATP-binding domain 1 family member C
protein x 0004

NCBI Reference Sequences (RefSeq)

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_001164372.1NP_001157844.1  GPN-loop GTPase 3 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate 5' exon, resulting in a distinct 5' UTR and translation initiation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a longer and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AK223209, BC008416, BI546381
    Consensus CDS
    CCDS53831.1
    UniProtKB/Swiss-Prot
    Q9UHW5
    Related
    ENSP00000442770.1, ENST00000543199.5
    Conserved Domains (2) summary
    COG1100
    Location:56249
    Gem1; GTPase SAR1 family domain [General function prediction only]
    pfam03029
    Location:56293
    ATP_bind_1; Conserved hypothetical ATP binding protein
  2. NM_001164373.1NP_001157845.1  GPN-loop GTPase 3 isoform 3

    See identical proteins and their annotated locations for NP_001157845.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. This results in a longer protein (isoform 3), compared to isoform 1.
    Source sequence(s)
    AK223209, BC008416, BX537973, DB455987
    Consensus CDS
    CCDS53830.1
    UniProtKB/Swiss-Prot
    Q9UHW5
    Related
    ENSP00000443068.2, ENST00000537466.6
    Conserved Domains (1) summary
    pfam03029
    Location:8264
    ATP_bind_1; Conserved hypothetical ATP binding protein
  3. NM_016301.4NP_057385.3  GPN-loop GTPase 3 isoform 1

    See identical proteins and their annotated locations for NP_057385.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the predominant isoform (1).
    Source sequence(s)
    AK223209, BC008416
    Consensus CDS
    CCDS9147.1
    UniProtKB/Swiss-Prot
    Q9UHW5
    Related
    ENSP00000228827.3, ENST00000228827.8
    Conserved Domains (1) summary
    pfam03029
    Location:8254
    ATP_bind_1; Conserved hypothetical ATP binding protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    110452486..110468721 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017019394.1XP_016874883.1  GPN-loop GTPase 3 isoform X1

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