Q9Y3T6 (R3HC1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
R3H and coiled-coil domain-containing protein 1

Gene names

Name:

R3HCC1

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	480 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Sequence similarities	Contains 1 R3H domain.
Sequence caution	The sequence CAB43396.1 differs from that shown. Reason: Contaminating sequence. Cloning artifact and potential poly-A sequence.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Coiled coil
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Molecular function	nucleic acid binding Inferred from electronic annotation. Source: InterPro nucleotide 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: Q9Y3T6-1)

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: Q9Y3T6-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-227: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 480	480	R3H and coiled-coil domain-containing protein 1		PRO_0000307389
Regions
	Domain	56 – 121	66	R3H
	Coiled coil	282 – 340	59	Potential
Amino acid modifications
	Modified residue	276	1	Phosphoserine Ref.5
Natural variations
	Alternative sequence	1 – 227	227	Missing in isoform 2.		VSP_040842
	Natural variant	136	1	A → T. Corresponds to variant rs6980542 [ dbSNP | Ensembl ].		VAR_035420
	Natural variant	185	1	R → K. Corresponds to variant rs3808536 [ dbSNP | Ensembl ].		VAR_035421
	Natural variant	347	1	V → M. Corresponds to variant rs2272761 [ dbSNP | Ensembl ].		VAR_035422
	Natural variant	403	1	L → R. Corresponds to variant rs13530 [ dbSNP | Ensembl ].		VAR_035423

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 23, 2007. Version 2. Checksum: 41834967F6021D76	FASTA	480	53,259
	10 20 30 40 50 60 MNMKASRVTL GEAGARARWP LGTPRAAATR REAAALPPVT LALLCLDGVF LSSAENDFVH 70 80 90 100 110 120 RIQEELDRFL LQKQLSKVLL FPPLSSRLRY LIHRTAENFD LLSSFSVGEG WKRRTVICHQ 130 140 150 160 170 180 DIRVPSSDGL SGPCRAPASC PSRYHGPRPI SNQGAAAVPR GARAGRWYRG RKPDQPLYVP 190 200 210 220 230 240 RVLRRQEEWG LTSTSVLKRE APAGRDPEEP GDVGAGDPNS DQGLPVLMTQ GTEDLKGPGQ 250 260 270 280 290 300 RCENEPLLDP VGPEPLGPES QSGKGDMVEM ATRFGSTLQL DLEKGKESLL EKRLVAEEEE 310 320 330 340 350 360 DEEEVEEDGP SSCSEDDYSE LLQEITDNLT KKEIQIEKIH LDTSSFVEEL PGEKDLAHVV 370 380 390 400 410 420 EIYDFEPALK TEDLLATFSE FQEKGFRIQW VDDTHALGIF PCLASAAEAL TREFSVLKIR 430 440 450 460 470 480 PLTQGTKQSK LKALQRPKLL RLVKERPQTN ATVARRLVAR ALGLQHKKKE RPAVRGPLPP
	Isoform 2 [UniParc]. Checksum: 7370713EE9772C5A	FASTA	253	28,328
	10 20 30 40 50 60 MTQGTEDLKG PGQRCENEPL LDPVGPEPLG PESQSGKGDM VEMATRFGST LQLDLEKGKE 70 80 90 100 110 120 SLLEKRLVAE EEEDEEEVEE DGPSSCSEDD YSELLQEITD NLTKKEIQIE KIHLDTSSFV 130 140 150 160 170 180 EELPGEKDLA HVVEIYDFEP ALKTEDLLAT FSEFQEKGFR IQWVDDTHAL GIFPCLASAA 190 200 210 220 230 240 EALTREFSVL KIRPLTQGTK QSKLKALQRP KLLRLVKERP QTNATVARRL VARALGLQHK 250 KKERPAVRGP LPP

References

[1]	"DNA sequence and analysis of human chromosome 8." Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T. , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S. Nature 439:331-335(2006) [PubMed: 16421571] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[2]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases 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).
[4]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 22-469 (ISOFORM 1). Tissue: Brain.
[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-276, MASS SPECTROMETRY. Tissue: Leukemic T-cell.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AC090197 Genomic DNA. No translation available. CH471080 Genomic DNA. Translation: EAW63629.1. CH471080 Genomic DNA. Translation: EAW63630.1. BC143822 mRNA. Translation: AAI43823.1. BC143829 mRNA. Translation: AAI43830.1. AL050297 mRNA. Translation: CAB43396.1. Sequence problems.
IPI	IPI00000264. IPI00942109.
PIR	T08701.
RefSeq	NP_001129580.1. NM_001136108.1.
UniGene	Hs.458644.
3D structure databases
ProteinModelPortal	Q9Y3T6.
SMR	Q9Y3T6. Positions 59-120, 357-423.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9Y3T6. 1 interaction.
PTM databases
PhosphoSite	Q9Y3T6.
Polymorphism databases
DMDM	160017981.
Proteomic databases
PRIDE	Q9Y3T6.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000265806; ENSP00000265806; ENSG00000104679. ENST00000411463; ENSP00000397555; ENSG00000104679. ENST00000518454; ENSP00000430607; ENSG00000104679.
GeneID	203069.
KEGG	hsa:203069.
NMPDR	fig|9606.3.peg.30069.
UCSC	uc003xdf.1. human.
Organism-specific databases
CTD	203069.
GeneCards	GC08P023127.
H-InvDB	HIX0007384. HIX0095356.
HGNC	HGNC:27329. R3HCC1.
HPA	HPA023073. HPA023153.
neXtProt	NX_Q9Y3T6.
PharmGKB	PA142671108.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG06749.
GeneTree	ENSGT00530000063711.
HOGENOM	HBG507103.
HOVERGEN	HBG108389.
InParanoid	Q9Y3T6.
OMA	NDFVHRI.
OrthoDB	EOG4VX26G.
PhylomeDB	Q9Y3T6.
Gene expression databases
ArrayExpress	Q9Y3T6.
Bgee	Q9Y3T6.
CleanEx	HS_R3HCC1.
Genevestigator	Q9Y3T6.
Family and domain databases
InterPro	IPR012677. Nucleotide-bd_a/b_plait. IPR001374. R3H_ss-bd. [Graphical view]
Gene3D	G3DSA:3.30.70.330. a_b_plait_nuc_bd. 1 hit.
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	90328.

Entry information

Entry name

R3HC1_HUMAN

Accession

Primary (citable) accession number: Q9Y3T6
Secondary accession number(s): B7ZLI1

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 23, 2007
Last sequence update:	October 23, 2007
Last modified:	January 25, 2012
This is version 64 of the entry and version 2 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.