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Protein

RNA pseudouridylate synthase domain-containing protein 4

Gene

RPUSD4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Functioni

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei153By similarity1

GO - Molecular functioni

  • pseudouridine synthase activity Source: GO_Central
  • RNA binding Source: UniProtKB

GO - Biological processi

Names & Taxonomyi

Protein namesi
Recommended name:
RNA pseudouridylate synthase domain-containing protein 4
Gene namesi
Name:RPUSD4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:25898. RPUSD4.

Subcellular locationi

GO - Cellular componenti

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000165526.
PharmGKBiPA134875000.

Polymorphism and mutation databases

BioMutaiRPUSD4.
DMDMi74731354.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003008251 – 377RNA pseudouridylate synthase domain-containing protein 4Add BLAST377

Proteomic databases

EPDiQ96CM3.
MaxQBiQ96CM3.
PaxDbiQ96CM3.
PeptideAtlasiQ96CM3.
PRIDEiQ96CM3.

PTM databases

iPTMnetiQ96CM3.
PhosphoSitePlusiQ96CM3.

Expressioni

Gene expression databases

BgeeiENSG00000165526.
CleanExiHS_RPUSD4.
ExpressionAtlasiQ96CM3. baseline and differential.
GenevisibleiQ96CM3. HS.

Organism-specific databases

HPAiHPA039689.

Interactioni

Protein-protein interaction databases

BioGridi124324. 29 interactors.
IntActiQ96CM3. 9 interactors.
MINTiMINT-8052462.
STRINGi9606.ENSP00000298317.

Structurei

Secondary structure

1377
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi89 – 97Combined sources9
Beta strandi104 – 111Combined sources8
Helixi127 – 139Combined sources13
Beta strandi156 – 165Combined sources10
Helixi166 – 177Combined sources12
Beta strandi181 – 191Combined sources11
Beta strandi194 – 200Combined sources7
Beta strandi223 – 227Combined sources5
Beta strandi230 – 233Combined sources4
Beta strandi245 – 252Combined sources8
Beta strandi254 – 265Combined sources12
Helixi270 – 279Combined sources10
Turni287 – 289Combined sources3
Helixi302 – 308Combined sources7
Helixi312 – 317Combined sources6
Beta strandi322 – 329Combined sources8
Beta strandi339 – 342Combined sources4
Helixi347 – 355Combined sources9

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5UBAX-ray1.54A89-365[»]
ProteinModelPortaliQ96CM3.
SMRiQ96CM3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili36 – 62Sequence analysisAdd BLAST27

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi33 – 37Poly-Ala5

Sequence similaritiesi

Belongs to the pseudouridine synthase RluA family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG1919. Eukaryota.
COG0564. LUCA.
GeneTreeiENSGT00530000063800.
HOGENOMiHOG000136349.
HOVERGENiHBG054698.
InParanoidiQ96CM3.
OMAiDHKYSHW.
OrthoDBiEOG091G0LFU.
PhylomeDBiQ96CM3.
TreeFamiTF337899.

Family and domain databases

InterProiView protein in InterPro
IPR020103. PsdUridine_synth_cat_dom.
IPR006224. PsdUridine_synth_RluC/D_CS.
IPR006145. PsdUridine_synth_RsuA/RluD.
PfamiView protein in Pfam
PF00849. PseudoU_synth_2. 1 hit.
SUPFAMiSSF55120. SSF55120. 1 hit.
PROSITEiView protein in PROSITE
PS01129. PSI_RLU. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96CM3-1) [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
MAAPRWSASG PWIRGNGQGC GSLFTLVSKP FCAAAAASTA INAQRLAEKL
60 70 80 90 100
RAQKREQDTK KEPVSTNAVQ RRVQEIVRFT RQLQRVHPNV LAKALTRGIL
110 120 130 140 150
HQDKNLVVIN KPYGLPVHGG PGVQLCITDV LPILAKMLHG HKAEPLHLCH
160 170 180 190 200
RLDKETTGVM VLAWDKDMAH QVQELFRTRQ VVKKYWAITV HVPMPSAGVV
210 220 230 240 250
DIPIVEKEAQ GQQQHHKMTL SPSYRMDDGK MVKVRRSRNA QVAVTQYQVL
260 270 280 290 300
SSTLSSALVE LQPITGIKHQ LRVHLSFGLD CPILGDHKYS DWNRLAPQKL
310 320 330 340 350
SVGTLKKLGL EQSKARYIPL HLHARQLILP ALGSGKEELN LVCKLPRFFV
360 370
HSLHRLRLEM PNEDQNENNE AKCLGAQ
Length:377
Mass (Da):42,205
Last modified:December 1, 2001 - v1
Checksum:i6B5E7DA71212D404
GO
Isoform 2 (identifier: Q96CM3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     209-239: Missing.

Note: No experimental confirmation available.
Show »
Length:346
Mass (Da):38,552
Checksum:i320C72FA91AD8E65
GO

Sequence cautioni

The sequence AK308059 differs from that shown. Reason: Frameshift at position 101.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti29K → E in BAB55086 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03488744Q → R1 PublicationCorresponds to variant dbSNP:rs2282580Ensembl.1
Natural variantiVAR_03488858D → G. Corresponds to variant dbSNP:rs35468281Ensembl.1
Natural variantiVAR_034889155E → D. Corresponds to variant dbSNP:rs34809853Ensembl.1
Natural variantiVAR_034890209A → V. Corresponds to variant dbSNP:rs35157957Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_047375209 – 239Missing in isoform 2. 1 PublicationAdd BLAST31

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK027400 mRNA. Translation: BAB55086.1.
AK308059 mRNA. No translation available.
BC014131 mRNA. Translation: AAH14131.1.
CCDSiCCDS53721.1. [Q96CM3-2]
CCDS8469.1. [Q96CM3-1]
RefSeqiNP_001138299.1. NM_001144827.1. [Q96CM3-2]
NP_116184.2. NM_032795.2. [Q96CM3-1]
UniGeneiHs.150458.

Genome annotation databases

EnsembliENST00000298317; ENSP00000298317; ENSG00000165526. [Q96CM3-1]
ENST00000533628; ENSP00000433065; ENSG00000165526. [Q96CM3-2]
GeneIDi84881.
KEGGihsa:84881.
UCSCiuc001qde.3. human. [Q96CM3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiRUSD4_HUMAN
AccessioniPrimary (citable) accession number: Q96CM3
Secondary accession number(s): E9PML2, Q96K56
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: December 1, 2001
Last modified: August 30, 2017
This is version 117 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. SIMILARITY comments
    Index of protein domains and families