Q9Y2K5 (R3HD2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
R3H domain-containing protein 2

Gene names

Name:	R3HDM2
Synonyms:	KIAA1002

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	976 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Subcellular location	Nucleus Potential.
Sequence similarities	Contains 1 R3H domain.
Sequence caution	The sequence AAI04996.2 differs from that shown. Reason: Erroneous initiation. The sequence AAI12227.2 differs from that shown. Reason: Erroneous initiation. The sequence BAA76846.2 differs from that shown. Reason: Frameshift at position 4.

Ontologies

Keywords
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
PTM	Phosphoprotein
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Cellular component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	nucleic acid binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9Y2K5-1)

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.

Isoform 2 (identifier: Q9Y2K5-2)

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

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 976

976

R3H domain-containing protein 2

PRO_0000050787

Regions

Domain

169 – 232

64

R3H

Compositional bias

288 – 369

82

Ser-rich

Compositional bias

404 – 694

291

Gln-rich

Compositional bias

908 – 912

5

Poly-Gly

Amino acid modifications

Modified residue

348

1

Phosphoserine Ref.4

Modified residue

853

1

Phosphoserine Ref.5

Modified residue

855

1

Phosphoserine Ref.4

Natural variations

Alternative sequence

1 – 295

295

Missing in isoform 2.

VSP_026087

Alternative sequence

296 – 298

3

QIF → MIT in isoform 2.

VSP_026088

Natural variant

35

1

T → A.
Corresponds to variant rs11832661 [ dbSNP | Ensembl ].

VAR_059713

Experimental info

Sequence conflict

359

1

G → S in AAH41857. Ref.3

Secondary structure

1

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

976

Helix Strand Turn

Details...

Helix

154 – 164

11

Turn

166 – 168

3

Helix

169 – 184

16

Beta strand

190 – 192

3

Helix

198 – 211

14

Beta strand

215 – 217

3

Beta strand

222 – 227

6

Helix

239 – 241

3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified June 12, 2007. Version 3. Checksum: D626918F71E0F815	FASTA	976	106,999
	10 20 30 40 50 60 MSNSNTTQET LEIMKESEKK LVEESVNKNK FISKTPSKEE IEKECEDTSL RQETQRRTSN 70 80 90 100 110 120 HGHARKRAKS NSKLKLVRSL AVCEESSTPF ADGPLETQDI IQLHISCPSD KEEEKSTKDV 130 140 150 160 170 180 SEKEDKDKNK EKIPRKMLSR DSSQEYTDST GIDLHEFLVN TLKKNPRDRM MLLKLEQEIL 190 200 210 220 230 240 EFINDNNNQF KKFPQMTSYH RMLLHRVAAY FGMDHNVDQT GKAVIINKTS NTRIPEQRFS 250 260 270 280 290 300 EHIKDEKNTE FQQRFILKRD DASMDRDDNQ TGQNGYLNDI RLSKEAFSSS SHKRRQIFRG 310 320 330 340 350 360 NREGLSRTSS SRQSSTDSEL KSLEPRPWSS TDSDGSVRSM RPPVTKASSF SGISILTRGD 370 380 390 400 410 420 SIGSSKGGSA GRISRPGMAL GAPEVCNQVT SSQSVRGLLP CTAQQQQQQQ QQQLPALPPT 430 440 450 460 470 480 PQQQPPLNNH MISQADDLSN PFGQMSLSRQ GSTEAADPSA ALFQTPLISQ HPQQTSFIMA 490 500 510 520 530 540 STGQPLPTSN YSTSSHAPPT QQVLPPQGYM QPPQQIQVSY YPPGQYPNSN QQYRPLSHPV 550 560 570 580 590 600 AYSPQRGQQL PQPSQQPGLQ PMMPNQQQAA YQGMIGVQQP QNQGLLSSQR SSMGGQMQGL 610 620 630 640 650 660 VVQYTPLPSY QVPVGSDSQN VVQPPFQQPM LVPVSQSVQG GLPAAGVPVY YSMIPPAQQN 670 680 690 700 710 720 GTSPSVGFLQ PPGSEQYQMP QSPSPCSPPQ MPQQYSGVSP SGPGVVVMQL NVPNGPQPPQ 730 740 750 760 770 780 NPSMVQWSHC KYYSMDQRGQ KPGDLYSPDS SPQANTQMSS SPVTSPTQSP APSPVTSLSS 790 800 810 820 830 840 VCTGLSPLPV LTQFPRPGGP AQGDGRYSLL GQPLQYNLSI CPPLLHGQST YTVHQGQSGL 850 860 870 880 890 900 KHGNRGKRQA LKSASTDLGT ADVVLGRVLE VTDLPEGITR TEADKLFTQL AMSGAKIQWL 910 920 930 940 950 960 KDAQGLPGGG GGDNSGTAEN GRHSDLAALY TIVAVFPSPL AAQNASLRLN NSVSRFKLRM 970 AKKNYDLRIL ERASSQ
	Isoform 2 [UniParc]. Checksum: 632BDEE04C6798F9	FASTA	681	72,554
	10 20 30 40 50 60 MITRGNREGL SRTSSSRQSS TDSELKSLEP RPWSSTDSDG SVRSMRPPVT KASSFSGISI 70 80 90 100 110 120 LTRGDSIGSS KGGSAGRISR PGMALGAPEV CNQVTSSQSV RGLLPCTAQQ QQQQQQQQLP 130 140 150 160 170 180 ALPPTPQQQP PLNNHMISQA DDLSNPFGQM SLSRQGSTEA ADPSAALFQT PLISQHPQQT 190 200 210 220 230 240 SFIMASTGQP LPTSNYSTSS HAPPTQQVLP PQGYMQPPQQ IQVSYYPPGQ YPNSNQQYRP 250 260 270 280 290 300 LSHPVAYSPQ RGQQLPQPSQ QPGLQPMMPN QQQAAYQGMI GVQQPQNQGL LSSQRSSMGG 310 320 330 340 350 360 QMQGLVVQYT PLPSYQVPVG SDSQNVVQPP FQQPMLVPVS QSVQGGLPAA GVPVYYSMIP 370 380 390 400 410 420 PAQQNGTSPS VGFLQPPGSE QYQMPQSPSP CSPPQMPQQY SGVSPSGPGV VVMQLNVPNG 430 440 450 460 470 480 PQPPQNPSMV QWSHCKYYSM DQRGQKPGDL YSPDSSPQAN TQMSSSPVTS PTQSPAPSPV 490 500 510 520 530 540 TSLSSVCTGL SPLPVLTQFP RPGGPAQGDG RYSLLGQPLQ YNLSICPPLL HGQSTYTVHQ 550 560 570 580 590 600 GQSGLKHGNR GKRQALKSAS TDLGTADVVL GRVLEVTDLP EGITRTEADK LFTQLAMSGA 610 620 630 640 650 660 KIQWLKDAQG LPGGGGGDNS GTAENGRHSD LAALYTIVAV FPSPLAAQNA SLRLNNSVSR 670 680 FKLRMAKKNY DLRILERASS Q

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 6:63-70(1999) [PubMed: 10231032] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain.
[2]	"The finished DNA sequence of human chromosome 12." Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R. , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A. Nature 440:346-351(2006) [PubMed: 16541075] [Abstract] 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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 321-976 (ISOFORM 1). Tissue: Testis.
[4]	"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach." Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S. Anal. Chem. 81:4493-4501(2009) [PubMed: 19413330] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-348 AND SER-855, MASS SPECTROMETRY. Tissue: Embryonic kidney.
[5]	"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed: 19690332] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-853, MASS SPECTROMETRY. Tissue: Leukemic T-cell.
[6]	"Solution structure of the R3H domain from human." RIKEN structural genomics initiative (RSGI) Submitted (NOV-2004) to the EMBL/GenBank/DDBJ databases Cited for: STRUCTURE BY NMR OF 147-257.
+	Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

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.

IPI

IPI00007227.
IPI00396041.

RefSeq

NP_055740.3. NM_014925.3.

UniGene

Hs.443673.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
1WHR	NMR	-	A	147-257	[»]

ProteinModelPortal

Q9Y2K5.

SMR

Q9Y2K5. Positions 152-257.

ModBase

Search...

Protein-protein interaction databases

IntAct

Q9Y2K5. 2 interactions.

MINT

MINT-2823137.

PTM databases

PhosphoSite

Q9Y2K5.

Polymorphism databases

DMDM

148887413.

Proteomic databases

PRIDE

Q9Y2K5.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000347140; ENSP00000317903; ENSG00000179912.
ENST00000358907; ENSP00000351784; ENSG00000179912.

GeneID

22864.

KEGG

hsa:22864.

NMPDR

fig|9606.3.peg.7793.

UCSC

uc001snr.2. human.
uc001sns.2. human.

Organism-specific databases

CTD

22864.

GeneCards

GC12M057647.

H-InvDB

HIX0019694.

HGNC

HGNC:29167. R3HDM2.

HPA

HPA038327.

neXtProt

NX_Q9Y2K5.

PharmGKB

PA143485590.

HUGE

Search...

GenAtlas

Search...

Phylogenomic databases

eggNOG

prNOG09979.

GeneTree

ENSGT00440000038338.

HOVERGEN

HBG052192.

OrthoDB

EOG41G33F.

Gene expression databases

ArrayExpress

Q9Y2K5.

Bgee

Q9Y2K5.

CleanEx

HS_R3HDM2.

Genevestigator

Q9Y2K5.

GermOnline

ENSG00000179912. Homo sapiens.

Family and domain databases

InterPro

IPR001374. R3H_ss-bd.
[Graphical view]

Pfam

PF01424. R3H. 1 hit.
[Graphical view]

SMART

SM00393. R3H. 1 hit.
[Graphical view]

PROSITE

PS51061. R3H. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

NextBio

43379.

Entry information

Entry name

R3HD2_HUMAN

Accession

Primary (citable) accession number: Q9Y2K5
Secondary accession number(s): Q2M1T9, Q3ZCT5

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 19, 2002
Last sequence update:	June 12, 2007
Last modified:	January 25, 2012
This is version 76 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.