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Protein

Protein RRNAD1

Gene

RRNAD1

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

Functioni

GO - Molecular functioni

Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Protein RRNAD1
Alternative name(s):
Ribosomal RNA adenine dimethylase domain-containing protein 1
Gene namesi
Name:RRNAD1
Synonyms:C1orf66
ORF Names:CGI-41
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:24273. RRNAD1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei406 – 42621HelicalSequence analysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142672516.

Polymorphism and mutation databases

BioMutaiRRNAD1.
DMDMi152125834.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 475475Protein RRNAD1PRO_0000289052Add
BLAST

Proteomic databases

EPDiQ96FB5.
MaxQBiQ96FB5.
PaxDbiQ96FB5.
PeptideAtlasiQ96FB5.
PRIDEiQ96FB5.

PTM databases

iPTMnetiQ96FB5.
PhosphoSiteiQ96FB5.

Expressioni

Gene expression databases

BgeeiENSG00000143303.
CleanExiHS_C1orf66.
ExpressionAtlasiQ96FB5. baseline and differential.
GenevisibleiQ96FB5. HS.

Organism-specific databases

HPAiHPA047426.

Interactioni

Protein-protein interaction databases

BioGridi119282. 1 interaction.
STRINGi9606.ENSP00000357199.

Structurei

3D structure databases

ProteinModelPortaliQ96FB5.
SMRiQ96FB5. Positions 150-198.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili186 – 21025Sequence analysisAdd
BLAST

Sequence similaritiesi

Belongs to the RRNAD1 family.Curated

Keywords - Domaini

Coiled coil, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2651. Eukaryota.
ENOG410XPIU. LUCA.
GeneTreeiENSGT00530000063745.
HOGENOMiHOG000136542.
HOVERGENiHBG054541.
InParanoidiQ96FB5.
OMAiVCCFEMQ.
OrthoDBiEOG091G0DL9.
PhylomeDBiQ96FB5.
TreeFamiTF312998.

Family and domain databases

InterProiIPR025714. Methyltranfer_dom.
IPR020596. rRNA_Ade_Mease_Trfase_CS.
IPR029063. SAM-dependent_MTases.
[Graphical view]
PfamiPF13679. Methyltransf_32. 1 hit.
[Graphical view]
SUPFAMiSSF53335. SSF53335. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q96FB5-1) [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
MPGISARGLS HEGRKQLAVN LTRVLALYRS ILDAYIIEFF TDNLWDTLPC
60 70 80 90 100
SWQEALDGLK PPQLATMLLG MPGEGEVVRY RSVWPLTLLA LKSTACALAF
110 120 130 140 150
TRMPGFQTPS EFLENPSQSS RLTAPFRKHV RPKKQHEIRR LGELVKKLSD
160 170 180 190 200
FTGCTQVVDV GSGQGHLSRF MALGLGLMVK SIEGDQRLVE RAQRLDQELL
210 220 230 240 250
QALEKEEKRN PQVVQTSPRH SPHHVVRWVD PTALCEELLL PLENPCQGRA
260 270 280 290 300
RLLLTGLHAC GDLSVALLRH FSCCPEVVAL ASVGCCYMKL SDPGGYPLSQ
310 320 330 340 350
WVAGLPGYEL PYRLREGACH ALEEYAERLQ KAGPGLRTHC YRAALETVIR
360 370 380 390 400
RARPELRRPG VQGIPRVHEL KIEEYVQRGL QRVGLDPQLP LNLAALQAHV
410 420 430 440 450
AQENRVVAFF SLALLLAPLV ETLILLDRLL YLQEQGFHAE LLPIFSPELS
460 470
PRNLVLVATK MPLGQALSVL ETEDS
Length:475
Mass (Da):52,981
Last modified:May 29, 2007 - v2
Checksum:i36B0552C8CD0582F
GO
Isoform 2 (identifier: Q96FB5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     213-277: VVQTSPRHSP...LRHFSCCPEV → ICAAGATASG...AVPSGTGFPC
     278-475: Missing.

Note: No experimental confirmation available. Gene prediction based on EST data.
Show »
Length:277
Mass (Da):29,674
Checksum:i6D64F4D9CF0EFF62
GO

Sequence cautioni

The sequence AAD34037 differs from that shown. Reason: Frameshift at positions 154 and 165. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti436 – 4361G → L in AAH11382 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti400 – 4001V → L.3 Publications
Corresponds to variant rs4311877 [ dbSNP | Ensembl ].
VAR_032564

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei213 – 27765VVQTS…CCPEV → ICAAGATASGARSPAATESG CPSGPRGPGEPCGGLLQPGS TACPTGGDAYSTGPAAVPSG TGFPC in isoform 2. CuratedVSP_054043Add
BLAST
Alternative sequencei278 – 475198Missing in isoform 2. CuratedVSP_054044Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF151800 mRNA. Translation: AAD34037.1. Frameshift.
AL590666 Genomic DNA. No translation available.
CH471121 Genomic DNA. Translation: EAW52916.1.
CH471121 Genomic DNA. Translation: EAW52918.1.
BC011382 mRNA. Translation: AAH11382.1.
CCDSiCCDS1154.1. [Q96FB5-1]
CCDS44246.1. [Q96FB5-2]
RefSeqiNP_001136032.1. NM_001142560.1. [Q96FB5-2]
NP_057081.3. NM_015997.3. [Q96FB5-1]
UniGeneiHs.512597.

Genome annotation databases

EnsembliENST00000368216; ENSP00000357199; ENSG00000143303. [Q96FB5-1]
ENST00000368218; ENSP00000357201; ENSG00000143303. [Q96FB5-2]
GeneIDi51093.
KEGGihsa:51093.
UCSCiuc001fpu.4. human. [Q96FB5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF151800 mRNA. Translation: AAD34037.1. Frameshift.
AL590666 Genomic DNA. No translation available.
CH471121 Genomic DNA. Translation: EAW52916.1.
CH471121 Genomic DNA. Translation: EAW52918.1.
BC011382 mRNA. Translation: AAH11382.1.
CCDSiCCDS1154.1. [Q96FB5-1]
CCDS44246.1. [Q96FB5-2]
RefSeqiNP_001136032.1. NM_001142560.1. [Q96FB5-2]
NP_057081.3. NM_015997.3. [Q96FB5-1]
UniGeneiHs.512597.

3D structure databases

ProteinModelPortaliQ96FB5.
SMRiQ96FB5. Positions 150-198.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119282. 1 interaction.
STRINGi9606.ENSP00000357199.

PTM databases

iPTMnetiQ96FB5.
PhosphoSiteiQ96FB5.

Polymorphism and mutation databases

BioMutaiRRNAD1.
DMDMi152125834.

Proteomic databases

EPDiQ96FB5.
MaxQBiQ96FB5.
PaxDbiQ96FB5.
PeptideAtlasiQ96FB5.
PRIDEiQ96FB5.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000368216; ENSP00000357199; ENSG00000143303. [Q96FB5-1]
ENST00000368218; ENSP00000357201; ENSG00000143303. [Q96FB5-2]
GeneIDi51093.
KEGGihsa:51093.
UCSCiuc001fpu.4. human. [Q96FB5-1]

Organism-specific databases

CTDi51093.
GeneCardsiRRNAD1.
H-InvDBHIX0001173.
HGNCiHGNC:24273. RRNAD1.
HPAiHPA047426.
neXtProtiNX_Q96FB5.
PharmGKBiPA142672516.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2651. Eukaryota.
ENOG410XPIU. LUCA.
GeneTreeiENSGT00530000063745.
HOGENOMiHOG000136542.
HOVERGENiHBG054541.
InParanoidiQ96FB5.
OMAiVCCFEMQ.
OrthoDBiEOG091G0DL9.
PhylomeDBiQ96FB5.
TreeFamiTF312998.

Miscellaneous databases

ChiTaRSiRRNAD1. human.
GenomeRNAii51093.
PROiQ96FB5.

Gene expression databases

BgeeiENSG00000143303.
CleanExiHS_C1orf66.
ExpressionAtlasiQ96FB5. baseline and differential.
GenevisibleiQ96FB5. HS.

Family and domain databases

InterProiIPR025714. Methyltranfer_dom.
IPR020596. rRNA_Ade_Mease_Trfase_CS.
IPR029063. SAM-dependent_MTases.
[Graphical view]
PfamiPF13679. Methyltransf_32. 1 hit.
[Graphical view]
SUPFAMiSSF53335. SSF53335. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiRRNAD_HUMAN
AccessioniPrimary (citable) accession number: Q96FB5
Secondary accession number(s): D3DVC7
, Q4VX71, Q5SZ03, Q9Y358
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 29, 2007
Last sequence update: May 29, 2007
Last modified: September 7, 2016
This is version 98 of the entry and version 2 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

Caution

Was named RRNAD1 by HGNC because a ribosomal RNA adenine dimethylase signature is detected by PROSITE. Howwever, it probably constitutes a false positive and the ribosomal RNA adenine dimethylase signature is not conserved in orthologs.Curated

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: 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
  5. Uncharacterized protein families (UPF)
    List of uncharacterized protein family (UPF) entries

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.