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Protein

GPN-loop GTPase 1

Gene

GPN1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Small GTPase required for proper nuclear import of RNA polymerase II (RNAPII) (PubMed:20855544, PubMed:21768307). May act at an RNAP assembly step prior to nuclear import (PubMed:21768307). Forms an interface between the RNA polymerase II enzyme and chaperone/scaffolding proteins, suggesting that it is required to connect RNA polymerase II to regulators of protein complex formation (PubMed:17643375). May be involved in nuclear localization of XPA (PubMed:11058119).1 Publication3 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei88Stabilizes the phosphate intermediate; shared with dimeric partnerBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi29 – 34GTPBy similarity6
Nucleotide bindingi189 – 192GTPBy similarity4

GO - Molecular functioni

  • GTPase activity Source: GO_Central
  • GTP binding Source: UniProtKB-KW

Keywordsi

Molecular functionHydrolase
LigandGTP-binding, Nucleotide-binding

Names & Taxonomyi

Protein namesi
Recommended name:
GPN-loop GTPase 11 Publication (EC:3.6.5.-2 Publications)
Alternative name(s):
MBD2-interacting protein
Short name:
MBDin
RNAPII-associated protein 41 Publication
XPA-binding protein 11 Publication
Gene namesi
Name:GPN11 PublicationImported
Synonyms:MBDIN, RPAP41 Publication, XAB11 Publication
ORF Names:HUSSY-23
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000198522.13
HGNCiHGNC:17030 GPN1
MIMi611479 gene
neXtProtiNX_Q9HCN4

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi29 – 32GSGK → AAAA: Abolishes GTPase activity and decreases association with GPN3. 1 Publication4

Organism-specific databases

DisGeNETi11321
OpenTargetsiENSG00000198522
PharmGKBiPA162390148

Polymorphism and mutation databases

BioMutaiGPN1
DMDMi34925430

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources1 Publication
ChainiPRO_00000660012 – 374GPN-loop GTPase 1Add BLAST373

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1 Publication1
Modified residuei301PhosphoserineCombined sources1
Modified residuei312PhosphoserineCombined sources1
Modified residuei314PhosphoserineCombined sources1
Modified residuei328PhosphothreonineCombined sources1
Modified residuei338PhosphoserineCombined sources1
Modified residuei340PhosphothreonineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ9HCN4
MaxQBiQ9HCN4
PaxDbiQ9HCN4
PeptideAtlasiQ9HCN4
PRIDEiQ9HCN4
ProteomicsDBi81775
81776 [Q9HCN4-2]
81777 [Q9HCN4-3]

PTM databases

iPTMnetiQ9HCN4
PhosphoSitePlusiQ9HCN4

Expressioni

Tissue specificityi

Expressed ubiquitously.

Gene expression databases

BgeeiENSG00000198522 Expressed in 227 organ(s), highest expression level in epithelium of mammary gland
CleanExiHS_GPN1
ExpressionAtlasiQ9HCN4 baseline and differential
GenevisibleiQ9HCN4 HS

Organism-specific databases

HPAiCAB037303
HPA036793
HPA036794

Interactioni

Subunit structurei

Heterodimer with GPN3 (PubMed:21768307). Binds to RNA polymerase II (RNAPII) (PubMed:17643375, PubMed:20864038, PubMed:21844196). Interacts directly with RNAPII subunits RPB4 and RPB7 and the CTD of RPB1 (PubMed:21768307). Interacts with XPA (PubMed:11058119).5 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
GPN3Q9UHW53EBI-745137,EBI-395491

Protein-protein interaction databases

BioGridi116452, 83 interactors
IntActiQ9HCN4, 21 interactors
MINTiQ9HCN4
STRINGi9606.ENSP00000264718

Structurei

3D structure databases

ProteinModelPortaliQ9HCN4
SMRiQ9HCN4
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi86 – 88Gly-Pro-Asn (GPN)-loop; involved in dimer interfaceBy similarity3

Sequence similaritiesi

Belongs to the GPN-loop GTPase family.Curated

Phylogenomic databases

eggNOGiKOG1532 Eukaryota
ENOG410XNRC LUCA
GeneTreeiENSGT00550000074926
HOGENOMiHOG000191633
HOVERGENiHBG047768
InParanoidiQ9HCN4
KOiK06883
OMAiDPACREV
OrthoDBiEOG091G0EA4
PhylomeDBiQ9HCN4
TreeFamiTF313204

Family and domain databases

InterProiView protein in InterPro
IPR003593 AAA+_ATPase
IPR004130 Gpn
IPR030230 Gpn1/Npa3/XAB1
IPR027417 P-loop_NTPase
PANTHERiPTHR21231 PTHR21231, 1 hit
PTHR21231:SF13 PTHR21231:SF13, 1 hit
PfamiView protein in Pfam
PF03029 ATP_bind_1, 1 hit
SMARTiView protein in SMART
SM00382 AAA, 1 hit
SUPFAMiSSF52540 SSF52540, 1 hit

Sequences (5+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 5 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9HCN4-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAASAAAAEL QASGGPRHPV CLLVLGMAGS GKTTFVQRLT GHLHAQGTPP
60 70 80 90 100
YVINLDPAVH EVPFPANIDI RDTVKYKEVM KQYGLGPNGG IVTSLNLFAT
110 120 130 140 150
RFDQVMKFIE KAQNMSKYVL IDTPGQIEVF TWSASGTIIT EALASSFPTV
160 170 180 190 200
VIYVMDTSRS TNPVTFMSNM LYACSILYKT KLPFIVVMNK TDIIDHSFAV
210 220 230 240 250
EWMQDFEAFQ DALNQETTYV SNLTRSMSLV LDEFYSSLRV VGVSAVLGTG
260 270 280 290 300
LDELFVQVTS AAEEYEREYR PEYERLKKSL ANAESQQQRE QLERLRKDMG
310 320 330 340 350
SVALDAGTAK DSLSPVLHPS DLILTRGTLD EEDEEADSDT DDIDHRVTEE
360 370
SHEEPAFQNF MQESMAQYWK RNNK
Length:374
Mass (Da):41,740
Last modified:March 1, 2001 - v1
Checksum:i9B96F452FAFE955C
GO
Isoform 2 (identifier: Q9HCN4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-79: Missing.

Note: No experimental confirmation available.
Show »
Length:295
Mass (Da):33,455
Checksum:i2C342A039956B031
GO
Isoform 3 (identifier: Q9HCN4-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-104: MAASAAAAEL...LNLFATRFDQ → MKFPFLPIL

Note: No experimental confirmation available.
Show »
Length:279
Mass (Da):31,832
Checksum:i80B128D78E155418
GO
Isoform 4 (identifier: Q9HCN4-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-37: MAASAAAAELQASGGPRHPVCLLVLGMAGSGKTTFVQ → MTGHTRSSLPRCTGIVLLIKLRFSE

Note: No experimental confirmation available.
Show »
Length:362
Mass (Da):40,957
Checksum:iA4E9E4D5AF771F5A
GO
Isoform 5 (identifier: Q9HCN4-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MRCLYGRVGGARRKM

Note: No experimental confirmation available.
Show »
Length:388
Mass (Da):43,345
Checksum:i1CC8DDB0DD6AEF92
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8WD09F8WD09_HUMAN
GPN-loop GTPase
GPN1
73Annotation score:

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0427491 – 104MAASA…TRFDQ → MKFPFLPIL in isoform 3. 1 PublicationAdd BLAST104
Alternative sequenceiVSP_0427501 – 79Missing in isoform 2. 1 PublicationAdd BLAST79
Alternative sequenceiVSP_0461761 – 37MAASA…TTFVQ → MTGHTRSSLPRCTGIVLLIK LRFSE in isoform 4. 1 PublicationAdd BLAST37
Alternative sequenceiVSP_0543661M → MRCLYGRVGGARRKM in isoform 5. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB044661 mRNA Translation: BAB17612.1
AK298827 mRNA Translation: BAG60957.1
AK298866 mRNA Translation: BAG60986.1
AK302131 mRNA Translation: BAG63506.1
AK310340 mRNA No translation available.
AK316404 mRNA Translation: BAH14775.1
AC074091 Genomic DNA No translation available.
BC007451 mRNA Translation: AAH07451.1
AJ010842 mRNA Translation: CAA09376.1
CCDSiCCDS1760.2 [Q9HCN4-1]
CCDS46248.1 [Q9HCN4-4]
CCDS46249.1 [Q9HCN4-3]
CCDS46250.1 [Q9HCN4-2]
RefSeqiNP_001138519.1, NM_001145047.1 [Q9HCN4-4]
NP_001138520.1, NM_001145048.1 [Q9HCN4-2]
NP_001138521.1, NM_001145049.1 [Q9HCN4-3]
NP_009197.2, NM_007266.3 [Q9HCN4-5]
UniGeneiHs.18259

Genome annotation databases

EnsembliENST00000264718; ENSP00000264718; ENSG00000198522 [Q9HCN4-5]
ENST00000407583; ENSP00000384255; ENSG00000198522 [Q9HCN4-4]
ENST00000424214; ENSP00000398115; ENSG00000198522 [Q9HCN4-2]
ENST00000458167; ENSP00000412170; ENSG00000198522 [Q9HCN4-3]
ENST00000503738; ENSP00000427269; ENSG00000198522 [Q9HCN4-3]
ENST00000515877; ENSP00000424678; ENSG00000198522 [Q9HCN4-2]
ENST00000610189; ENSP00000476446; ENSG00000198522 [Q9HCN4-1]
ENST00000616939; ENSP00000484680; ENSG00000198522 [Q9HCN4-5]
GeneIDi11321
KEGGihsa:11321
UCSCiuc010ezf.4 human [Q9HCN4-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB044661 mRNA Translation: BAB17612.1
AK298827 mRNA Translation: BAG60957.1
AK298866 mRNA Translation: BAG60986.1
AK302131 mRNA Translation: BAG63506.1
AK310340 mRNA No translation available.
AK316404 mRNA Translation: BAH14775.1
AC074091 Genomic DNA No translation available.
BC007451 mRNA Translation: AAH07451.1
AJ010842 mRNA Translation: CAA09376.1
CCDSiCCDS1760.2 [Q9HCN4-1]
CCDS46248.1 [Q9HCN4-4]
CCDS46249.1 [Q9HCN4-3]
CCDS46250.1 [Q9HCN4-2]
RefSeqiNP_001138519.1, NM_001145047.1 [Q9HCN4-4]
NP_001138520.1, NM_001145048.1 [Q9HCN4-2]
NP_001138521.1, NM_001145049.1 [Q9HCN4-3]
NP_009197.2, NM_007266.3 [Q9HCN4-5]
UniGeneiHs.18259

3D structure databases

ProteinModelPortaliQ9HCN4
SMRiQ9HCN4
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116452, 83 interactors
IntActiQ9HCN4, 21 interactors
MINTiQ9HCN4
STRINGi9606.ENSP00000264718

PTM databases

iPTMnetiQ9HCN4
PhosphoSitePlusiQ9HCN4

Polymorphism and mutation databases

BioMutaiGPN1
DMDMi34925430

Proteomic databases

EPDiQ9HCN4
MaxQBiQ9HCN4
PaxDbiQ9HCN4
PeptideAtlasiQ9HCN4
PRIDEiQ9HCN4
ProteomicsDBi81775
81776 [Q9HCN4-2]
81777 [Q9HCN4-3]

Protocols and materials databases

DNASUi11321
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000264718; ENSP00000264718; ENSG00000198522 [Q9HCN4-5]
ENST00000407583; ENSP00000384255; ENSG00000198522 [Q9HCN4-4]
ENST00000424214; ENSP00000398115; ENSG00000198522 [Q9HCN4-2]
ENST00000458167; ENSP00000412170; ENSG00000198522 [Q9HCN4-3]
ENST00000503738; ENSP00000427269; ENSG00000198522 [Q9HCN4-3]
ENST00000515877; ENSP00000424678; ENSG00000198522 [Q9HCN4-2]
ENST00000610189; ENSP00000476446; ENSG00000198522 [Q9HCN4-1]
ENST00000616939; ENSP00000484680; ENSG00000198522 [Q9HCN4-5]
GeneIDi11321
KEGGihsa:11321
UCSCiuc010ezf.4 human [Q9HCN4-1]

Organism-specific databases

CTDi11321
DisGeNETi11321
EuPathDBiHostDB:ENSG00000198522.13
GeneCardsiGPN1
H-InvDBiHIX0001929
HGNCiHGNC:17030 GPN1
HPAiCAB037303
HPA036793
HPA036794
MIMi611479 gene
neXtProtiNX_Q9HCN4
OpenTargetsiENSG00000198522
PharmGKBiPA162390148
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1532 Eukaryota
ENOG410XNRC LUCA
GeneTreeiENSGT00550000074926
HOGENOMiHOG000191633
HOVERGENiHBG047768
InParanoidiQ9HCN4
KOiK06883
OMAiDPACREV
OrthoDBiEOG091G0EA4
PhylomeDBiQ9HCN4
TreeFamiTF313204

Miscellaneous databases

ChiTaRSiGPN1 human
GenomeRNAii11321
PROiPR:Q9HCN4
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000198522 Expressed in 227 organ(s), highest expression level in epithelium of mammary gland
CleanExiHS_GPN1
ExpressionAtlasiQ9HCN4 baseline and differential
GenevisibleiQ9HCN4 HS

Family and domain databases

InterProiView protein in InterPro
IPR003593 AAA+_ATPase
IPR004130 Gpn
IPR030230 Gpn1/Npa3/XAB1
IPR027417 P-loop_NTPase
PANTHERiPTHR21231 PTHR21231, 1 hit
PTHR21231:SF13 PTHR21231:SF13, 1 hit
PfamiView protein in Pfam
PF03029 ATP_bind_1, 1 hit
SMARTiView protein in SMART
SM00382 AAA, 1 hit
SUPFAMiSSF52540 SSF52540, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiGPN1_HUMAN
AccessioniPrimary (citable) accession number: Q9HCN4
Secondary accession number(s): B4DQJ5
, B4DQM4, B4DXU4, B5MBZ5, O76004
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 19, 2003
Last sequence update: March 1, 2001
Last modified: November 7, 2018
This is version 155 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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