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Protein

R3H domain-containing protein 1

Gene

R3HDM1

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

Functioni

GO - Molecular functioni

  • RNA binding Source: UniProtKB

Names & Taxonomyi

Protein namesi
Recommended name:
R3H domain-containing protein 1
Gene namesi
Name:R3HDM1
Synonyms:KIAA0029, R3HDM
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:9757. R3HDM1.

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000048991.
PharmGKBiPA34098.

Polymorphism and mutation databases

BioMutaiR3HDM1.
DMDMi92086999.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000971391 – 1099R3H domain-containing protein 1Add BLAST1099

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei187PhosphoserineCombined sources1
Modified residuei262PhosphoserineCombined sources1
Modified residuei302PhosphoserineCombined sources1
Modified residuei380PhosphoserineCombined sources1
Modified residuei381PhosphoserineCombined sources1
Modified residuei393PhosphoserineCombined sources1
Modified residuei929Asymmetric dimethylarginine; alternateCombined sources1
Modified residuei929Omega-N-methylarginine; alternateCombined sources1
Modified residuei973PhosphoserineCombined sources1

Keywords - PTMi

Methylation, Phosphoprotein

Proteomic databases

EPDiQ15032.
MaxQBiQ15032.
PaxDbiQ15032.
PeptideAtlasiQ15032.
PRIDEiQ15032.

PTM databases

iPTMnetiQ15032.
PhosphoSitePlusiQ15032.

Expressioni

Gene expression databases

BgeeiENSG00000048991.
CleanExiHS_R3HDM1.
ExpressionAtlasiQ15032. baseline and differential.
GenevisibleiQ15032. HS.

Organism-specific databases

HPAiHPA030936.

Interactioni

Protein-protein interaction databases

BioGridi117065. 9 interactors.
IntActiQ15032. 8 interactors.
MINTiMINT-2809589.
STRINGi9606.ENSP00000264160.

Structurei

3D structure databases

ProteinModelPortaliQ15032.
SMRiQ15032.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini168 – 231R3HPROSITE-ProRule annotationAdd BLAST64
Domaini232 – 302SUZPROSITE-ProRule annotationAdd BLAST71

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi89 – 94Poly-Pro6
Compositional biasi589 – 608Poly-ProAdd BLAST20
Compositional biasi822 – 826Poly-Pro5

Phylogenomic databases

eggNOGiKOG2953. Eukaryota.
ENOG410ZICF. LUCA.
GeneTreeiENSGT00440000038338.
HOGENOMiHOG000034071.
HOVERGENiHBG052192.
InParanoidiQ15032.
OMAiDKDDNQM.
OrthoDBiEOG091G016L.
PhylomeDBiQ15032.
TreeFamiTF315915.

Family and domain databases

Gene3Di3.30.1370.50. 1 hit.
InterProiView protein in InterPro
IPR001374. R3H_dom.
IPR024771. SUZ.
PfamiView protein in Pfam
PF01424. R3H. 1 hit.
PF12752. SUZ. 1 hit.
SMARTiView protein in SMART
SM00393. R3H. 1 hit.
SUPFAMiSSF82708. SSF82708. 1 hit.
PROSITEiView protein in PROSITE
PS51061. R3H. 1 hit.
PS51673. SUZ. 1 hit.

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q15032-1) [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
MRMSDTVTVK DETATMKDLE AEVKDTTRVE NLIKSENYGK ILVEKNEHCI
60 70 80 90 100
ENNIDLQRPL QSFGQTGKRS KSSSKLKLVR SLAVCEESPP PPAPEISQEN
110 120 130 140 150
QEKIQIQLTQ SFEKEEKPSK DEAEKEKASD KLPRKMLSRD SSQEYTDSTG
160 170 180 190 200
IDLHEFLVNT LKNNPRDRMM LLKLEQEILD FIGNNESPRK KFPPMTSYHR
210 220 230 240 250
MLLHRVAAYF GLDHNVDQSG KSVIVNKTSN TRIPDQKFNE HIKDDKGEDF
260 270 280 290 300
QKRYILKRDN SSFDKDDNQM RIRLKDDRRS KSIEEREEEY QRARDRIFSQ
310 320 330 340 350
DSLCSQENYI IDKRLQDEDA SSTQQRRQIF RVNKDASGRS TNSHQSSTEN
360 370 380 390 400
ELKYSEPRPW SSTDSDSSLR NLKPAVTKAS SFSGISVLTR GDSSGSSKSI
410 420 430 440 450
GRLSKTGSES SGSVGSSTGS LSHIQQPLPG TALSQSSHGA PVVYPTVSTH
460 470 480 490 500
SSLSFDGGLN GQVASPSTSF FLLPLEAAGI PPGSILINPQ TGQPFINPDG
510 520 530 540 550
SPVVYNPPMT QQPVRSQVPG PPQPPLPAPP QQPAANHIFS QDNLGSQFSH
560 570 580 590 600
MSLARQPSAD GSDPHAAMFQ STVVLQSPQQ SGYIMTAAPP PHPPPPPPPP
610 620 630 640 650
PPPPPLPPGQ PVPTAGYPAS GHPVSQPVLQ QQGYIQQPSP QMPACYCAPG
660 670 680 690 700
HYHSSQPQYR PVPSVHYNSH LNQPLPQPAQ QTGYQVIPNQ QQNYQGIVGV
710 720 730 740 750
QQPQSQSLVS GQPNSIGNQI QGVVIPYTSV PTYQVSLPQG SQGIPHQTYQ
760 770 780 790 800
QPVMFPNQSN QGSMPTTGMP VYYSVIPPGQ QNNLSSSVGY LQHPGSEQVQ
810 820 830 840 850
FPRTTSPCSS QQLQGHQCTA GPPPPPGGGM VMMQLSVPNN PQSCAHSPPQ
860 870 880 890 900
WKQNKYYCDH QRGQKCVEFS SVDNIVQHSP QLSSPIISPA QSPAPAQLST
910 920 930 940 950
LKTVRPSGPP LSIMPQFSRP FVPGQGDSRY PLLGQPLQYN PPAVLHGHIP
960 970 980 990 1000
NQQGQPGSRH GNRGRRQAKK AASTDLGAGE TVVGKVLEIT ELPDGITRME
1010 1020 1030 1040 1050
AEKLFGELFK IGAKIRWLRD PQSQPRRHPL CCGSGDNTAN PERSKPSDLA
1060 1070 1080 1090
STYTVLATFP SISAAQNALK KQINSVNKFK LRTSKKHYDF HILERASSQ
Length:1,099
Mass (Da):120,696
Last modified:March 7, 2006 - v3
Checksum:i67782B9163702174
GO
Isoform 2 (identifier: Q15032-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     57-100: Missing.
     406-490: Missing.
     541-541: Q → QQ

Show »
Length:971
Mass (Da):107,706
Checksum:i8077F2AF74E6B6C3
GO
Isoform 3 (identifier: Q15032-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     541-541: Q → QQ

Show »
Length:1,100
Mass (Da):120,824
Checksum:i64434909001F7E96
GO
Isoform 4 (identifier: Q15032-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-44: MRMSDTVTVK...SENYGKILVE → MGLLLPDYRW...TPQSQIQRTH
     45-100: Missing.
     541-541: Q → QQ

Note: No experimental confirmation available.
Show »
Length:1,044
Mass (Da):114,854
Checksum:i53DAA30221BECAC7
GO

Sequence cautioni

The sequence BAA04878 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti125K → E in BAF82704 (PubMed:14702039).Curated1
Sequence conflicti902K → R in BAF82704 (PubMed:14702039).Curated1
Sequence conflicti1075S → L in BAF82704 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_025423270M → V1 PublicationCorresponds to variant dbSNP:rs961360Ensembl.1
Natural variantiVAR_025424632Q → P1 PublicationCorresponds to variant dbSNP:rs2305165Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0543081 – 44MRMSD…KILVE → MGLLLPDYRWFTTVDILADN CEKEPWIILFYFCGTPQSQI QRTH in isoform 4. 1 PublicationAdd BLAST44
Alternative sequenceiVSP_05430945 – 100Missing in isoform 4. 1 PublicationAdd BLAST56
Alternative sequenceiVSP_01734457 – 100Missing in isoform 2. 1 PublicationAdd BLAST44
Alternative sequenceiVSP_017345406 – 490Missing in isoform 2. 1 PublicationAdd BLAST85
Alternative sequenceiVSP_054310541Q → QQ in isoform 2, isoform 3 and isoform 4. 3 Publications1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D21852 mRNA. Translation: BAA04878.2. Different initiation.
AK127793 mRNA. Translation: BAG54571.1.
AK290015 mRNA. Translation: BAF82704.1.
AC011893 Genomic DNA. No translation available.
AC016742 Genomic DNA. No translation available.
CH471058 Genomic DNA. Translation: EAX11627.1.
BC041093 mRNA. Translation: AAH41093.1.
CCDSiCCDS2177.1. [Q15032-1]
CCDS63024.1. [Q15032-4]
CCDS63025.1. [Q15032-3]
CCDS63026.1. [Q15032-2]
RefSeqiNP_001269727.1. NM_001282798.1. [Q15032-3]
NP_001269728.1. NM_001282799.1. [Q15032-2]
NP_001269729.1. NM_001282800.1. [Q15032-4]
NP_056176.2. NM_015361.3. [Q15032-1]
XP_006712452.1. XM_006712389.2. [Q15032-3]
XP_016859207.1. XM_017003718.1. [Q15032-1]
UniGeneiHs.412462.

Genome annotation databases

EnsembliENST00000264160; ENSP00000264160; ENSG00000048991. [Q15032-1]
ENST00000409478; ENSP00000386457; ENSG00000048991. [Q15032-2]
ENST00000409606; ENSP00000387010; ENSG00000048991. [Q15032-3]
ENST00000410054; ENSP00000386877; ENSG00000048991. [Q15032-4]
ENST00000628915; ENSP00000486837; ENSG00000048991. [Q15032-2]
GeneIDi23518.
KEGGihsa:23518.
UCSCiuc002tuo.5. human. [Q15032-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiR3HD1_HUMAN
AccessioniPrimary (citable) accession number: Q15032
Secondary accession number(s): A8K1V0
, B3KXQ9, E9PBB4, E9PG42, G5E9G8, Q8IW32
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: March 7, 2006
Last modified: August 30, 2017
This is version 137 of the entry and version 3 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: 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