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Protein

R3H domain-containing protein 2

Gene

R3HDM2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

  • poly(A) RNA binding Source: UniProtKB
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
R3H domain-containing protein 2
Gene namesi
Name:R3HDM2
Synonyms:KIAA1002
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:29167. R3HDM2.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi22864.
OpenTargetsiENSG00000179912.
PharmGKBiPA143485590.

Polymorphism and mutation databases

BioMutaiR3HDM2.
DMDMi148887413.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000507871 – 976R3H domain-containing protein 2Add BLAST976

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei37PhosphoserineCombined sources1
Modified residuei143PhosphoserineBy similarity1
Modified residuei330PhosphoserineCombined sources1
Modified residuei333PhosphoserineBy similarity1
Modified residuei349PhosphoserineCombined sources1
Modified residuei853PhosphoserineCombined sources1
Modified residuei855PhosphoserineCombined sources1
Modified residuei856PhosphothreonineBy similarity1
Modified residuei860PhosphothreonineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9Y2K5.
PaxDbiQ9Y2K5.
PeptideAtlasiQ9Y2K5.
PRIDEiQ9Y2K5.

PTM databases

iPTMnetiQ9Y2K5.
PhosphoSitePlusiQ9Y2K5.

Expressioni

Gene expression databases

BgeeiENSG00000179912.
CleanExiHS_R3HDM2.
ExpressionAtlasiQ9Y2K5. baseline and differential.
GenevisibleiQ9Y2K5. HS.

Organism-specific databases

HPAiHPA038327.
HPA038328.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
C1orf94Q6P1W53EBI-10326419,EBI-946029
FAM168AQ925673EBI-10326419,EBI-7957930
KRTAP10-8P604103EBI-10326419,EBI-10171774
KRTAP3-2Q9BYR73EBI-10326419,EBI-751260
NOTCH2NLQ7Z3S93EBI-10326419,EBI-945833
RBPMSQ930623EBI-10326419,EBI-740322
RELQ048643EBI-10326419,EBI-307352
SPRY1O436093EBI-10326419,EBI-3866665

Protein-protein interaction databases

BioGridi116532. 13 interactors.
IntActiQ9Y2K5. 12 interactors.
MINTiMINT-2823137.
STRINGi9606.ENSP00000317903.

Structurei

Secondary structure

1976
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi154 – 164Combined sources11
Turni166 – 168Combined sources3
Helixi169 – 184Combined sources16
Beta strandi190 – 192Combined sources3
Helixi198 – 211Combined sources14
Beta strandi215 – 217Combined sources3
Beta strandi222 – 227Combined sources6
Helixi239 – 241Combined sources3

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1WHRNMR-A147-257[»]
ProteinModelPortaliQ9Y2K5.
SMRiQ9Y2K5.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9Y2K5.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini169 – 232R3HPROSITE-ProRule annotationAdd BLAST64
Domaini233 – 310SUZPROSITE-ProRule annotationAdd BLAST78

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi288 – 369Ser-richAdd BLAST82
Compositional biasi404 – 694Gln-richAdd BLAST291
Compositional biasi908 – 912Poly-Gly5

Sequence similaritiesi

Contains 1 R3H domain.PROSITE-ProRule annotation
Contains 1 SUZ domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiENOG410IS8W. Eukaryota.
ENOG41106PI. LUCA.
GeneTreeiENSGT00440000038338.
HOGENOMiHOG000034071.
HOVERGENiHBG052192.
InParanoidiQ9Y2K5.
PhylomeDBiQ9Y2K5.
TreeFamiTF315915.

Family and domain databases

Gene3Di3.30.1370.50. 1 hit.
InterProiIPR001374. R3H_dom.
IPR024771. SUZ.
[Graphical view]
PfamiPF01424. R3H. 1 hit.
[Graphical view]
SMARTiSM00393. R3H. 1 hit.
[Graphical view]
SUPFAMiSSF82708. SSF82708. 1 hit.
PROSITEiPS51061. R3H. 1 hit.
PS51673. SUZ. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9Y2K5-1) [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
MSNSNTTQET LEIMKESEKK LVEESVNKNK FISKTPSKEE IEKECEDTSL
60 70 80 90 100
RQETQRRTSN HGHARKRAKS NSKLKLVRSL AVCEESSTPF ADGPLETQDI
110 120 130 140 150
IQLHISCPSD KEEEKSTKDV SEKEDKDKNK EKIPRKMLSR DSSQEYTDST
160 170 180 190 200
GIDLHEFLVN TLKKNPRDRM MLLKLEQEIL EFINDNNNQF KKFPQMTSYH
210 220 230 240 250
RMLLHRVAAY FGMDHNVDQT GKAVIINKTS NTRIPEQRFS EHIKDEKNTE
260 270 280 290 300
FQQRFILKRD DASMDRDDNQ TGQNGYLNDI RLSKEAFSSS SHKRRQIFRG
310 320 330 340 350
NREGLSRTSS SRQSSTDSEL KSLEPRPWSS TDSDGSVRSM RPPVTKASSF
360 370 380 390 400
SGISILTRGD SIGSSKGGSA GRISRPGMAL GAPEVCNQVT SSQSVRGLLP
410 420 430 440 450
CTAQQQQQQQ QQQLPALPPT PQQQPPLNNH MISQADDLSN PFGQMSLSRQ
460 470 480 490 500
GSTEAADPSA ALFQTPLISQ HPQQTSFIMA STGQPLPTSN YSTSSHAPPT
510 520 530 540 550
QQVLPPQGYM QPPQQIQVSY YPPGQYPNSN QQYRPLSHPV AYSPQRGQQL
560 570 580 590 600
PQPSQQPGLQ PMMPNQQQAA YQGMIGVQQP QNQGLLSSQR SSMGGQMQGL
610 620 630 640 650
VVQYTPLPSY QVPVGSDSQN VVQPPFQQPM LVPVSQSVQG GLPAAGVPVY
660 670 680 690 700
YSMIPPAQQN GTSPSVGFLQ PPGSEQYQMP QSPSPCSPPQ MPQQYSGVSP
710 720 730 740 750
SGPGVVVMQL NVPNGPQPPQ NPSMVQWSHC KYYSMDQRGQ KPGDLYSPDS
760 770 780 790 800
SPQANTQMSS SPVTSPTQSP APSPVTSLSS VCTGLSPLPV LTQFPRPGGP
810 820 830 840 850
AQGDGRYSLL GQPLQYNLSI CPPLLHGQST YTVHQGQSGL KHGNRGKRQA
860 870 880 890 900
LKSASTDLGT ADVVLGRVLE VTDLPEGITR TEADKLFTQL AMSGAKIQWL
910 920 930 940 950
KDAQGLPGGG GGDNSGTAEN GRHSDLAALY TIVAVFPSPL AAQNASLRLN
960 970
NSVSRFKLRM AKKNYDLRIL ERASSQ
Length:976
Mass (Da):106,999
Last modified:June 12, 2007 - v3
Checksum:iD626918F71E0F815
GO
Isoform 2 (identifier: Q9Y2K5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-295: Missing.
     296-298: QIF → MIT

Show »
Length:681
Mass (Da):72,554
Checksum:i632BDEE04C6798F9
GO
Isoform 3 (identifier: Q9Y2K5-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-339: Missing.
     434-434: Q → QPVPALQPSPQPVQFSPSSCPQVLLPVSPPQQYNM

Note: No experimental confirmation available.
Show »
Length:671
Mass (Da):71,384
Checksum:i56CF1DD7EE634B0F
GO

Sequence cautioni

The sequence AAI04996 differs from that shown. Reason: Erroneous initiation.Curated
The sequence AAI12227 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAA76846 differs from that shown. Reason: Frameshift at position 4.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti359G → S in AAH41857 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05971335T → A.Corresponds to variant rs11832661dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0573911 – 339Missing in isoform 3. 1 PublicationAdd BLAST339
Alternative sequenceiVSP_0260871 – 295Missing in isoform 2. 1 PublicationAdd BLAST295
Alternative sequenceiVSP_026088296 – 298QIF → MIT in isoform 2. 1 Publication3
Alternative sequenceiVSP_057392434Q → QPVPALQPSPQPVQFSPSSC PQVLLPVSPPQQYNM in isoform 3. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB023219 mRNA. Translation: BAA76846.2. Frameshift.
AC126614 Genomic DNA. No translation available.
AC137834 Genomic DNA. No translation available.
BC041857 mRNA. Translation: AAH41857.1.
BC104995 mRNA. Translation: AAI04996.2. Different initiation.
BC112226 mRNA. Translation: AAI12227.2. Different initiation.
BC143605 mRNA. Translation: AAI43606.1.
CCDSiCCDS8937.2. [Q9Y2K5-1]
RefSeqiNP_001317050.1. NM_001330121.1.
NP_001317051.1. NM_001330122.1.
NP_001317052.1. NM_001330123.1.
NP_055740.3. NM_014925.4. [Q9Y2K5-1]
XP_016874520.1. XM_017019031.1. [Q9Y2K5-3]
XP_016874521.1. XM_017019032.1.
XP_016874522.1. XM_017019033.1.
UniGeneiHs.443673.

Genome annotation databases

EnsembliENST00000347140; ENSP00000317903; ENSG00000179912. [Q9Y2K5-1]
ENST00000358907; ENSP00000351784; ENSG00000179912. [Q9Y2K5-1]
ENST00000441731; ENSP00000408536; ENSG00000179912. [Q9Y2K5-3]
GeneIDi22864.
KEGGihsa:22864.
UCSCiuc001sns.3. human. [Q9Y2K5-1]
uc001snu.3. human.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB023219 mRNA. Translation: BAA76846.2. Frameshift.
AC126614 Genomic DNA. No translation available.
AC137834 Genomic DNA. No translation available.
BC041857 mRNA. Translation: AAH41857.1.
BC104995 mRNA. Translation: AAI04996.2. Different initiation.
BC112226 mRNA. Translation: AAI12227.2. Different initiation.
BC143605 mRNA. Translation: AAI43606.1.
CCDSiCCDS8937.2. [Q9Y2K5-1]
RefSeqiNP_001317050.1. NM_001330121.1.
NP_001317051.1. NM_001330122.1.
NP_001317052.1. NM_001330123.1.
NP_055740.3. NM_014925.4. [Q9Y2K5-1]
XP_016874520.1. XM_017019031.1. [Q9Y2K5-3]
XP_016874521.1. XM_017019032.1.
XP_016874522.1. XM_017019033.1.
UniGeneiHs.443673.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1WHRNMR-A147-257[»]
ProteinModelPortaliQ9Y2K5.
SMRiQ9Y2K5.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116532. 13 interactors.
IntActiQ9Y2K5. 12 interactors.
MINTiMINT-2823137.
STRINGi9606.ENSP00000317903.

PTM databases

iPTMnetiQ9Y2K5.
PhosphoSitePlusiQ9Y2K5.

Polymorphism and mutation databases

BioMutaiR3HDM2.
DMDMi148887413.

Proteomic databases

EPDiQ9Y2K5.
PaxDbiQ9Y2K5.
PeptideAtlasiQ9Y2K5.
PRIDEiQ9Y2K5.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000347140; ENSP00000317903; ENSG00000179912. [Q9Y2K5-1]
ENST00000358907; ENSP00000351784; ENSG00000179912. [Q9Y2K5-1]
ENST00000441731; ENSP00000408536; ENSG00000179912. [Q9Y2K5-3]
GeneIDi22864.
KEGGihsa:22864.
UCSCiuc001sns.3. human. [Q9Y2K5-1]
uc001snu.3. human.

Organism-specific databases

CTDi22864.
DisGeNETi22864.
GeneCardsiR3HDM2.
H-InvDBHIX0019694.
HGNCiHGNC:29167. R3HDM2.
HPAiHPA038327.
HPA038328.
neXtProtiNX_Q9Y2K5.
OpenTargetsiENSG00000179912.
PharmGKBiPA143485590.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IS8W. Eukaryota.
ENOG41106PI. LUCA.
GeneTreeiENSGT00440000038338.
HOGENOMiHOG000034071.
HOVERGENiHBG052192.
InParanoidiQ9Y2K5.
PhylomeDBiQ9Y2K5.
TreeFamiTF315915.

Miscellaneous databases

ChiTaRSiR3HDM2. human.
EvolutionaryTraceiQ9Y2K5.
GenomeRNAii22864.
PROiQ9Y2K5.

Gene expression databases

BgeeiENSG00000179912.
CleanExiHS_R3HDM2.
ExpressionAtlasiQ9Y2K5. baseline and differential.
GenevisibleiQ9Y2K5. HS.

Family and domain databases

Gene3Di3.30.1370.50. 1 hit.
InterProiIPR001374. R3H_dom.
IPR024771. SUZ.
[Graphical view]
PfamiPF01424. R3H. 1 hit.
[Graphical view]
SMARTiSM00393. R3H. 1 hit.
[Graphical view]
SUPFAMiSSF82708. SSF82708. 1 hit.
PROSITEiPS51061. R3H. 1 hit.
PS51673. SUZ. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiR3HD2_HUMAN
AccessioniPrimary (citable) accession number: Q9Y2K5
Secondary accession number(s): B7ZL65, Q2M1T9, Q3ZCT5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 19, 2002
Last sequence update: June 12, 2007
Last modified: November 30, 2016
This is version 119 of the entry and version 3 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 12
    Human chromosome 12: 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

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.