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Protein

Phosphorylated adapter RNA export protein

Gene

PHAX

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

A phosphoprotein adapter involved in the XPO1-mediated U snRNA export from the nucleus. Bridge components required for U snRNA export, the cap binding complex (CBC)-bound snRNA on the one hand and the GTPase Ran in its active GTP-bound form together with the export receptor XPO1 on the other. Its phosphorylation in the nucleus is required for U snRNA export complex assembly and export, while its dephosphorylation in the cytoplasm causes export complex disassembly. It is recycled back to the nucleus via the importin alpha/beta heterodimeric import receptor. The directionality of nuclear export is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. Its compartmentalized phosphorylation cycle may also contribute to the directionality of export. Binds strongly to m7G-capped U1 and U5 small nuclear RNAs (snRNAs) in a sequence-unspecific manner and phosphorylation-independent manner (By similarity). Plays also a role in the biogenesis of U3 small nucleolar RNA (snoRNA). Involved in the U3 snoRNA transport from nucleoplasm to Cajal bodies. Binds strongly to m7G-capped U3, U8 and U13 precursor snoRNAs and weakly to trimethylated (TMG)-capped U3, U8 and U13 snoRNAs. Binds also to telomerase RNA.By similarity2 Publications

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Protein transport, Transport

Keywords - Ligandi

RNA-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000164902-MONOMER.
ReactomeiR-HSA-191859. snRNP Assembly.
R-HSA-6807505. RNA polymerase II transcribes snRNA genes.

Protein family/group databases

TCDBi9.A.60.1.1. the small nuclear rna exporter (snrna-e).

Names & Taxonomyi

Protein namesi
Recommended name:
Phosphorylated adapter RNA export protein
Alternative name(s):
RNA U small nuclear RNA export adapter protein
Gene namesi
Name:PHAX
Synonyms:RNUXA
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:10241. PHAX.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi51808.
OpenTargetsiENSG00000164902.
PharmGKBiPA164724444.

Polymorphism and mutation databases

BioMutaiPHAX.
DMDMi74752718.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00002397752 – 394Phosphorylated adapter RNA export proteinAdd BLAST393

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1
Modified residuei14PhosphoserineCombined sources1
Modified residuei16PhosphoserineCombined sources1
Modified residuei65PhosphoserineBy similarity1
Modified residuei66PhosphoserineBy similarity1
Modified residuei69PhosphoserineBy similarity1
Modified residuei73PhosphoserineBy similarity1
Modified residuei226PhosphoserineBy similarity1
Modified residuei296PhosphothreonineCombined sources1
Modified residuei356PhosphoserineCombined sources1
Modified residuei368PhosphoserineCombined sources1

Post-translational modificationi

Phosphorylated in the nucleus. Dephosphorylated in the cytoplasm (By similarity).By similarity

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ9H814.
MaxQBiQ9H814.
PaxDbiQ9H814.
PeptideAtlasiQ9H814.
PRIDEiQ9H814.

PTM databases

iPTMnetiQ9H814.
PhosphoSitePlusiQ9H814.

Miscellaneous databases

PMAP-CutDBQ9H814.

Expressioni

Gene expression databases

BgeeiENSG00000164902.
CleanExiHS_PHAX.
GenevisibleiQ9H814. HS.

Organism-specific databases

HPAiHPA059057.
HPA059630.
HPA070326.

Interactioni

Subunit structurei

Found in a U snRNA export complex with PHAX/RNUXA, NCBP1/CBP80, NCBP2/CBP20, RAN, XPO1 and m7G-capped RNA. Part of a precomplex with PHAX/RNUXA, NCBP1/CBP80, NCBP2/CBP20 and m7G-capped RNA. Interacts with NCBP1/CBP80 (By similarity). Found in a complex with snoRNA. Interacts with NCBP2/CBP20 (PubMed:26382858).By similarity2 Publications

Protein-protein interaction databases

BioGridi119734. 50 interactors.
IntActiQ9H814. 31 interactors.
MINTiMINT-6781730.
STRINGi9606.ENSP00000297540.

Structurei

Secondary structure

1394
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi227 – 237Combined sources11
Helixi243 – 253Combined sources11
Helixi255 – 271Combined sources17
Beta strandi277 – 281Combined sources5
Helixi285 – 295Combined sources11
Helixi301 – 308Combined sources8

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2XC7NMR-A223-323[»]
ProteinModelPortaliQ9H814.
SMRiQ9H814.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni2 – 329Necessary for interaction with CBP80By similarityAdd BLAST328
Regioni228 – 328Sufficient for poly U RNA-bindingAdd BLAST101
Regioni279 – 287Necessary for poly U RNA-binding and snRNA exportBy similarity9

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi81 – 84Nuclear localization signalBy similarity4
Motifi130 – 139Nuclear export signalBy similarity10
Motifi198 – 201Nuclear localization signalBy similarity4

Sequence similaritiesi

Belongs to the PHAX family.Curated

Phylogenomic databases

eggNOGiKOG3948. Eukaryota.
ENOG4110D9C. LUCA.
GeneTreeiENSGT00390000011084.
HOGENOMiHOG000115525.
HOVERGENiHBG058976.
InParanoidiQ9H814.
KOiK14291.
OMAiDAGDMED.
OrthoDBiEOG091G0XKP.
PhylomeDBiQ9H814.
TreeFamiTF321050.

Family and domain databases

InterProiIPR019385. PHAX_RNA-binding_domain.
[Graphical view]
PfamiPF10258. RNA_GG_bind. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

Q9H814-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MALEVGDMED GQLSDSDSDM TVAPSDRPLQ LPKVLGGDSA MRAFQNTATA
60 70 80 90 100
CAPVSHYRAV ESVDSSEESF SDSDDDSCLW KRKRQKCFNP PPKPEPFQFG
110 120 130 140 150
QSSQKPPVAG GKKINNIWGA VLQEQNQDAV ATELGILGME GTIDRSRQSE
160 170 180 190 200
TYNYLLAKKL RKESQEHTKD LDKELDEYMH GGKKMGSKEE ENGQGHLKRK
210 220 230 240 250
RPVKDRLGNR PEMNYKGRYE ITAEDSQEKV ADEISFRLQE PKKDLIARVV
260 270 280 290 300
RIIGNKKAIE LLMETAEVEQ NGGLFIMNGS RRRTPGGVFL NLLKNTPSIS
310 320 330 340 350
EEQIKDIFYI ENQKEYENKK AARKRRTQVL GKKMKQAIKS LNFQEDDDTS
360 370 380 390
RETFASDTNE ALASLDESQE GHAEAKLEAE EAIEVDHSHD LDIF
Length:394
Mass (Da):44,403
Last modified:March 1, 2001 - v1
Checksum:i3513FA5081C6F7CA
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti141G → A in BAB14489 (PubMed:14702039).Curated1
Sequence conflicti346D → A in BAB14489 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05187182R → C.Corresponds to variant rs3734173dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK023255 mRNA. Translation: BAB14489.1.
AK024065 mRNA. Translation: BAB14809.1.
CR457305 mRNA. Translation: CAG33586.1.
BC021161 mRNA. Translation: AAH21161.1.
CCDSiCCDS4138.1.
RefSeqiNP_115553.2. NM_032177.3.
UniGeneiHs.555731.
Hs.744042.

Genome annotation databases

EnsembliENST00000297540; ENSP00000297540; ENSG00000164902.
GeneIDi51808.
KEGGihsa:51808.
UCSCiuc003kua.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK023255 mRNA. Translation: BAB14489.1.
AK024065 mRNA. Translation: BAB14809.1.
CR457305 mRNA. Translation: CAG33586.1.
BC021161 mRNA. Translation: AAH21161.1.
CCDSiCCDS4138.1.
RefSeqiNP_115553.2. NM_032177.3.
UniGeneiHs.555731.
Hs.744042.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2XC7NMR-A223-323[»]
ProteinModelPortaliQ9H814.
SMRiQ9H814.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119734. 50 interactors.
IntActiQ9H814. 31 interactors.
MINTiMINT-6781730.
STRINGi9606.ENSP00000297540.

Protein family/group databases

TCDBi9.A.60.1.1. the small nuclear rna exporter (snrna-e).

PTM databases

iPTMnetiQ9H814.
PhosphoSitePlusiQ9H814.

Polymorphism and mutation databases

BioMutaiPHAX.
DMDMi74752718.

Proteomic databases

EPDiQ9H814.
MaxQBiQ9H814.
PaxDbiQ9H814.
PeptideAtlasiQ9H814.
PRIDEiQ9H814.

Protocols and materials databases

DNASUi51808.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000297540; ENSP00000297540; ENSG00000164902.
GeneIDi51808.
KEGGihsa:51808.
UCSCiuc003kua.3. human.

Organism-specific databases

CTDi51808.
DisGeNETi51808.
GeneCardsiPHAX.
HGNCiHGNC:10241. PHAX.
HPAiHPA059057.
HPA059630.
HPA070326.
MIMi604924. gene.
neXtProtiNX_Q9H814.
OpenTargetsiENSG00000164902.
PharmGKBiPA164724444.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3948. Eukaryota.
ENOG4110D9C. LUCA.
GeneTreeiENSGT00390000011084.
HOGENOMiHOG000115525.
HOVERGENiHBG058976.
InParanoidiQ9H814.
KOiK14291.
OMAiDAGDMED.
OrthoDBiEOG091G0XKP.
PhylomeDBiQ9H814.
TreeFamiTF321050.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000164902-MONOMER.
ReactomeiR-HSA-191859. snRNP Assembly.
R-HSA-6807505. RNA polymerase II transcribes snRNA genes.

Miscellaneous databases

ChiTaRSiPHAX. human.
GeneWikiiRNUXA.
GenomeRNAii51808.
PMAP-CutDBQ9H814.
PROiQ9H814.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000164902.
CleanExiHS_PHAX.
GenevisibleiQ9H814. HS.

Family and domain databases

InterProiIPR019385. PHAX_RNA-binding_domain.
[Graphical view]
PfamiPF10258. RNA_GG_bind. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPHAX_HUMAN
AccessioniPrimary (citable) accession number: Q9H814
Secondary accession number(s): Q9H8W1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 13, 2006
Last sequence update: March 1, 2001
Last modified: November 2, 2016
This is version 123 of the entry and version 1 of the sequence. [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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.