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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)LengthDescriptionGraphical viewFeature identifierActions
Active sitei153 – 1531By similarity

GO - Molecular functioni

  • poly(A) RNA binding Source: UniProtKB
  • pseudouridine synthase activity Source: GO_Central

GO - Biological processi

Complete GO annotation...

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

Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134875000.

Polymorphism and mutation databases

BioMutaiRPUSD4.
DMDMi74731354.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 377377RNA pseudouridylate synthase domain-containing protein 4PRO_0000300825Add
BLAST

Proteomic databases

EPDiQ96CM3.
MaxQBiQ96CM3.
PaxDbiQ96CM3.
PRIDEiQ96CM3.

PTM databases

iPTMnetiQ96CM3.
PhosphoSiteiQ96CM3.

Expressioni

Gene expression databases

BgeeiQ96CM3.
CleanExiHS_RPUSD4.
ExpressionAtlasiQ96CM3. baseline and differential.
GenevisibleiQ96CM3. HS.

Organism-specific databases

HPAiHPA039689.

Interactioni

Protein-protein interaction databases

BioGridi124324. 23 interactions.
IntActiQ96CM3. 9 interactions.
MINTiMINT-8052462.
STRINGi9606.ENSP00000298317.

Structurei

3D structure databases

ProteinModelPortaliQ96CM3.
SMRiQ96CM3. Positions 94-291.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili36 – 6227Sequence analysisAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi33 – 375Poly-Ala

Sequence similaritiesi

Belongs to the pseudouridine synthase RluA family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG1919. Eukaryota.
COG0564. LUCA.
GeneTreeiENSGT00530000063800.
HOGENOMiHOG000136349.
HOVERGENiHBG054698.
InParanoidiQ96CM3.
OMAiLAWDKDM.
OrthoDBiEOG7WT41T.
PhylomeDBiQ96CM3.
TreeFamiTF337899.

Family and domain databases

InterProiIPR020103. PsdUridine_synth_cat_dom.
IPR006224. PsdUridine_synth_RluC/D_CS.
IPR006145. PsdUridine_synth_RsuA/RluD.
[Graphical view]
PfamiPF00849. PseudoU_synth_2. 1 hit.
[Graphical view]
SUPFAMiSSF55120. SSF55120. 1 hit.
PROSITEiPS01129. PSI_RLU. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti29 – 291K → E in BAB55086 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti44 – 441Q → R.1 Publication
Corresponds to variant rs2282580 [ dbSNP | Ensembl ].
VAR_034887
Natural varianti58 – 581D → G.
Corresponds to variant rs35468281 [ dbSNP | Ensembl ].
VAR_034888
Natural varianti155 – 1551E → D.
Corresponds to variant rs34809853 [ dbSNP | Ensembl ].
VAR_034889
Natural varianti209 – 2091A → V.
Corresponds to variant rs35157957 [ dbSNP | Ensembl ].
VAR_034890

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei209 – 23931Missing in isoform 2. 1 PublicationVSP_047375Add
BLAST

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

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ96CM3.
SMRiQ96CM3. Positions 94-291.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124324. 23 interactions.
IntActiQ96CM3. 9 interactions.
MINTiMINT-8052462.
STRINGi9606.ENSP00000298317.

PTM databases

iPTMnetiQ96CM3.
PhosphoSiteiQ96CM3.

Polymorphism and mutation databases

BioMutaiRPUSD4.
DMDMi74731354.

Proteomic databases

EPDiQ96CM3.
MaxQBiQ96CM3.
PaxDbiQ96CM3.
PRIDEiQ96CM3.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi84881.
GeneCardsiRPUSD4.
HGNCiHGNC:25898. RPUSD4.
HPAiHPA039689.
neXtProtiNX_Q96CM3.
PharmGKBiPA134875000.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1919. Eukaryota.
COG0564. LUCA.
GeneTreeiENSGT00530000063800.
HOGENOMiHOG000136349.
HOVERGENiHBG054698.
InParanoidiQ96CM3.
OMAiLAWDKDM.
OrthoDBiEOG7WT41T.
PhylomeDBiQ96CM3.
TreeFamiTF337899.

Miscellaneous databases

GenomeRNAii84881.
PROiQ96CM3.

Gene expression databases

BgeeiQ96CM3.
CleanExiHS_RPUSD4.
ExpressionAtlasiQ96CM3. baseline and differential.
GenevisibleiQ96CM3. HS.

Family and domain databases

InterProiIPR020103. PsdUridine_synth_cat_dom.
IPR006224. PsdUridine_synth_RluC/D_CS.
IPR006145. PsdUridine_synth_RsuA/RluD.
[Graphical view]
PfamiPF00849. PseudoU_synth_2. 1 hit.
[Graphical view]
SUPFAMiSSF55120. SSF55120. 1 hit.
PROSITEiPS01129. PSI_RLU. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANT ARG-44.
    Tissue: Mammary gland and Neuroblastoma.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Lung.
  4. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiRUSD4_HUMAN
AccessioniPrimary (citable) accession number: Q96CM3
Secondary accession number(s): E9PML2, Q96K56
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: December 1, 2001
Last modified: June 8, 2016
This is version 105 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

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. 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.