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GPN1 GPN-loop GTPase 1 [ Homo sapiens (human) ]

Gene ID: 11321, updated on 7-Jun-2020

Summary

Official Symbol
GPN1provided by HGNC
Official Full Name
GPN-loop GTPase 1provided by HGNC
Primary source
HGNC:HGNC:17030
See related
Ensembl:ENSG00000198522 MIM:611479
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
XAB1; MBDIN; NTPBP; RPAP4; ATPBD1A
Summary
This gene encodes a guanosine triphosphatase enzyme. The encoded protein may play a role in DNA repair and may function in activation of transcription. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]
Expression
Ubiquitous expression in testis (RPKM 15.4), thyroid (RPKM 13.8) and 25 other tissues See more
Orthologs

Genomic context

See GPN1 in Genome Data Viewer
Location:
2p23.3
Exon count:
16
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (27628648..27651511)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (27851515..27873713)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene chromosome 2 open reading frame 16 Neighboring gene zinc finger protein 512 Neighboring gene coiled-coil domain containing 121 Neighboring gene SPT7 like, STAGA complex subunit gamma Neighboring gene solute carrier family 4 member 1 adaptor protein Neighboring gene long intergenic non-protein coding RNA 1460

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?

Phenotypes

NHGRI GWAS Catalog

Description
A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.
NHGRI GWA Catalog
Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortiu
NHGRI GWA Catalog
Genome-wide association study of chronic periodontitis in a general German population.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Rev rev HIV-1 Rev interacting protein, GPN-loop GTPase 1 (GPN1), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ51176

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
cytosol IDA
Inferred from Direct Assay
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
GPN-loop GTPase 1
Names
ATP(GTP)-binding protein
MBD2-interacting protein
RNA polymerase II associated protein 4
RNAPII-associated protein 4
XPA binding protein 1, GTPase
NP_001138519.1
NP_001138520.1
NP_001138521.1
NP_009197.3

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_001145047.1NP_001138519.1  GPN-loop GTPase 1 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, contains two alternate exons in the 5' coding region and uses an alternate start codon, compared to variant 1. The encoded isoform (b) has a shorter, distinct N-terminus, compared to isoform a.
    Source sequence(s)
    AJ010842, AK298827, AK310340
    Consensus CDS
    CCDS46248.1
    UniProtKB/Swiss-Prot
    Q9HCN4
    Related
    ENSP00000384255.3, ENST00000407583.7
    Conserved Domains (2) summary
    COG1100
    Location:23217
    Gem1; GTPase SAR1 family domain [General function prediction only]
    pfam03029
    Location:23249
    ATP_bind_1; Conserved hypothetical ATP binding protein
  2. NM_001145048.1NP_001138520.1  GPN-loop GTPase 1 isoform c

    See identical proteins and their annotated locations for NP_001138520.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a segment of the 5' coding region, and uses a downstream start codon, compared to variant 1. The encoded isoform (c) has a shorter N-terminus, compared to isoform a.
    Source sequence(s)
    AJ010842, AK298827
    Consensus CDS
    CCDS46250.1
    UniProtKB/Swiss-Prot
    Q9HCN4
    Related
    ENSP00000398115.1, ENST00000424214.5
    Conserved Domains (2) summary
    COG1100
    Location:1150
    Gem1; GTPase SAR1 family domain [General function prediction only]
    pfam03029
    Location:1182
    ATP_bind_1; Conserved hypothetical ATP binding protein
  3. NM_001145049.1NP_001138521.1  GPN-loop GTPase 1 isoform d

    See identical proteins and their annotated locations for NP_001138521.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) has multiple coding region differences compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (d) with a shorter N-terminus compared to isoform a.
    Source sequence(s)
    AJ010842, AK316404
    Consensus CDS
    CCDS46249.1
    UniProtKB/Swiss-Prot
    Q9HCN4
    Related
    ENSP00000412170.2, ENST00000458167.6
    Conserved Domains (2) summary
    COG1100
    Location:22160
    Gem1; GTPase SAR1 family domain [General function prediction only]
    pfam03029
    Location:5166
    ATP_bind_1; Conserved hypothetical ATP binding protein
  4. NM_007266.4NP_009197.3  GPN-loop GTPase 1 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AC074091, AJ010842, AK298866, BC007451
    Consensus CDS
    CCDS1760.2
    Related
    ENSP00000476446.1, ENST00000610189.2
    Conserved Domains (1) summary
    pfam03029
    Location:24261
    ATP_bind_1; Conserved hypothetical ATP binding protein

RNA

  1. NR_026735.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks two internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AJ010842, AK298866, AK302131

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_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    27628648..27651511
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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