Full text data of R3HCC1
R3HCC1
[Confidence: low (only semi-automatic identification from reviews)]
R3H and coiled-coil domain-containing protein 1
Note: presumably soluble (membrane word is not in UniProt keywords or features)
R3H and coiled-coil domain-containing protein 1
Note: presumably soluble (membrane word is not in UniProt keywords or features)
UniProt
Q9Y3T6
ID R3HC1_HUMAN Reviewed; 480 AA.
AC Q9Y3T6; B7ZLI1;
DT 23-OCT-2007, integrated into UniProtKB/Swiss-Prot.
read moreDT 23-OCT-2007, sequence version 2.
DT 22-JAN-2014, entry version 77.
DE RecName: Full=R3H and coiled-coil domain-containing protein 1;
GN Name=R3HCC1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16421571; DOI=10.1038/nature04406;
RA Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S.,
RA Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A.,
RA Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X.,
RA Allen N.R., Anderson S., Asakawa T., Blechschmidt K., Bloom T.,
RA Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K.,
RA DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G.,
RA Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B.,
RA Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P.,
RA Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H.,
RA Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C.,
RA O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K.,
RA Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R.,
RA Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K.,
RA Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q.,
RA Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N.,
RA Lander E.S.;
RT "DNA sequence and analysis of human chromosome 8.";
RL Nature 439:331-335(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 22-469 (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H.,
RA Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K.,
RA Ottenwaelder B., Poustka A., Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [5]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
RA Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9Y3T6-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9Y3T6-2; Sequence=VSP_040842;
CC -!- SIMILARITY: Contains 1 R3H domain.
CC -!- SEQUENCE CAUTION:
CC Sequence=CAB43396.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Cloning artifact and potential poly-A sequence;
CC -----------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution-NoDerivs License
CC -----------------------------------------------------------------------
DR EMBL; AC090197; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471080; EAW63629.1; -; Genomic_DNA.
DR EMBL; CH471080; EAW63630.1; -; Genomic_DNA.
DR EMBL; BC143822; AAI43823.1; -; mRNA.
DR EMBL; BC143829; AAI43830.1; -; mRNA.
DR EMBL; AL050297; CAB43396.1; ALT_SEQ; mRNA.
DR PIR; T08701; T08701.
DR RefSeq; NP_001129580.1; NM_001136108.1.
DR RefSeq; XP_005273484.1; XM_005273427.1.
DR UniGene; Hs.458644; -.
DR ProteinModelPortal; Q9Y3T6; -.
DR IntAct; Q9Y3T6; 1.
DR STRING; 9606.ENSP00000265806; -.
DR PhosphoSite; Q9Y3T6; -.
DR DMDM; 160017981; -.
DR PaxDb; Q9Y3T6; -.
DR PRIDE; Q9Y3T6; -.
DR Ensembl; ENST00000265806; ENSP00000265806; ENSG00000104679.
DR Ensembl; ENST00000411463; ENSP00000397555; ENSG00000104679.
DR Ensembl; ENST00000518454; ENSP00000430607; ENSG00000104679.
DR GeneID; 203069; -.
DR KEGG; hsa:203069; -.
DR UCSC; uc003xdf.3; human.
DR CTD; 203069; -.
DR GeneCards; GC08P023127; -.
DR H-InvDB; HIX0007384; -.
DR H-InvDB; HIX0095356; -.
DR HGNC; HGNC:27329; R3HCC1.
DR HPA; HPA023073; -.
DR HPA; HPA023153; -.
DR neXtProt; NX_Q9Y3T6; -.
DR PharmGKB; PA142671108; -.
DR eggNOG; NOG317959; -.
DR HOGENOM; HOG000154058; -.
DR HOVERGEN; HBG106598; -.
DR InParanoid; Q9Y3T6; -.
DR OMA; ICHLDIR; -.
DR OrthoDB; EOG741Z3D; -.
DR GenomeRNAi; 203069; -.
DR NextBio; 90328; -.
DR PRO; PR:Q9Y3T6; -.
DR ArrayExpress; Q9Y3T6; -.
DR Bgee; Q9Y3T6; -.
DR CleanEx; HS_R3HCC1; -.
DR Genevestigator; Q9Y3T6; -.
DR GO; GO:0003676; F:nucleic acid binding; IEA:InterPro.
DR GO; GO:0000166; F:nucleotide binding; IEA:InterPro.
DR Gene3D; 3.30.70.330; -; 1.
DR InterPro; IPR012677; Nucleotide-bd_a/b_plait.
DR InterPro; IPR001374; R3H_ss-bd.
DR Pfam; PF01424; R3H; 1.
DR SMART; SM00393; R3H; 1.
DR PROSITE; PS51061; R3H; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Complete proteome; Polymorphism;
KW Reference proteome.
FT CHAIN 1 480 R3H and coiled-coil domain-containing
FT protein 1.
FT /FTId=PRO_0000307389.
FT DOMAIN 56 121 R3H.
FT COILED 282 340 Potential.
FT VAR_SEQ 1 227 Missing (in isoform 2).
FT /FTId=VSP_040842.
FT VARIANT 136 136 A -> T (in dbSNP:rs6980542).
FT /FTId=VAR_035420.
FT VARIANT 185 185 R -> K (in dbSNP:rs3808536).
FT /FTId=VAR_035421.
FT VARIANT 347 347 V -> M (in dbSNP:rs2272761).
FT /FTId=VAR_035422.
FT VARIANT 403 403 L -> R (in dbSNP:rs13530).
FT /FTId=VAR_035423.
SQ SEQUENCE 480 AA; 53259 MW; 41834967F6021D76 CRC64;
MNMKASRVTL GEAGARARWP LGTPRAAATR REAAALPPVT LALLCLDGVF LSSAENDFVH
RIQEELDRFL LQKQLSKVLL FPPLSSRLRY LIHRTAENFD LLSSFSVGEG WKRRTVICHQ
DIRVPSSDGL SGPCRAPASC PSRYHGPRPI SNQGAAAVPR GARAGRWYRG RKPDQPLYVP
RVLRRQEEWG LTSTSVLKRE APAGRDPEEP GDVGAGDPNS DQGLPVLMTQ GTEDLKGPGQ
RCENEPLLDP VGPEPLGPES QSGKGDMVEM ATRFGSTLQL DLEKGKESLL EKRLVAEEEE
DEEEVEEDGP SSCSEDDYSE LLQEITDNLT KKEIQIEKIH LDTSSFVEEL PGEKDLAHVV
EIYDFEPALK TEDLLATFSE FQEKGFRIQW VDDTHALGIF PCLASAAEAL TREFSVLKIR
PLTQGTKQSK LKALQRPKLL RLVKERPQTN ATVARRLVAR ALGLQHKKKE RPAVRGPLPP
//
ID R3HC1_HUMAN Reviewed; 480 AA.
AC Q9Y3T6; B7ZLI1;
DT 23-OCT-2007, integrated into UniProtKB/Swiss-Prot.
read moreDT 23-OCT-2007, sequence version 2.
DT 22-JAN-2014, entry version 77.
DE RecName: Full=R3H and coiled-coil domain-containing protein 1;
GN Name=R3HCC1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16421571; DOI=10.1038/nature04406;
RA Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S.,
RA Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A.,
RA Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X.,
RA Allen N.R., Anderson S., Asakawa T., Blechschmidt K., Bloom T.,
RA Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K.,
RA DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G.,
RA Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B.,
RA Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P.,
RA Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H.,
RA Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C.,
RA O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K.,
RA Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R.,
RA Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K.,
RA Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q.,
RA Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N.,
RA Lander E.S.;
RT "DNA sequence and analysis of human chromosome 8.";
RL Nature 439:331-335(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 22-469 (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H.,
RA Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K.,
RA Ottenwaelder B., Poustka A., Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [5]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
RA Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9Y3T6-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9Y3T6-2; Sequence=VSP_040842;
CC -!- SIMILARITY: Contains 1 R3H domain.
CC -!- SEQUENCE CAUTION:
CC Sequence=CAB43396.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Cloning artifact and potential poly-A sequence;
CC -----------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution-NoDerivs License
CC -----------------------------------------------------------------------
DR EMBL; AC090197; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471080; EAW63629.1; -; Genomic_DNA.
DR EMBL; CH471080; EAW63630.1; -; Genomic_DNA.
DR EMBL; BC143822; AAI43823.1; -; mRNA.
DR EMBL; BC143829; AAI43830.1; -; mRNA.
DR EMBL; AL050297; CAB43396.1; ALT_SEQ; mRNA.
DR PIR; T08701; T08701.
DR RefSeq; NP_001129580.1; NM_001136108.1.
DR RefSeq; XP_005273484.1; XM_005273427.1.
DR UniGene; Hs.458644; -.
DR ProteinModelPortal; Q9Y3T6; -.
DR IntAct; Q9Y3T6; 1.
DR STRING; 9606.ENSP00000265806; -.
DR PhosphoSite; Q9Y3T6; -.
DR DMDM; 160017981; -.
DR PaxDb; Q9Y3T6; -.
DR PRIDE; Q9Y3T6; -.
DR Ensembl; ENST00000265806; ENSP00000265806; ENSG00000104679.
DR Ensembl; ENST00000411463; ENSP00000397555; ENSG00000104679.
DR Ensembl; ENST00000518454; ENSP00000430607; ENSG00000104679.
DR GeneID; 203069; -.
DR KEGG; hsa:203069; -.
DR UCSC; uc003xdf.3; human.
DR CTD; 203069; -.
DR GeneCards; GC08P023127; -.
DR H-InvDB; HIX0007384; -.
DR H-InvDB; HIX0095356; -.
DR HGNC; HGNC:27329; R3HCC1.
DR HPA; HPA023073; -.
DR HPA; HPA023153; -.
DR neXtProt; NX_Q9Y3T6; -.
DR PharmGKB; PA142671108; -.
DR eggNOG; NOG317959; -.
DR HOGENOM; HOG000154058; -.
DR HOVERGEN; HBG106598; -.
DR InParanoid; Q9Y3T6; -.
DR OMA; ICHLDIR; -.
DR OrthoDB; EOG741Z3D; -.
DR GenomeRNAi; 203069; -.
DR NextBio; 90328; -.
DR PRO; PR:Q9Y3T6; -.
DR ArrayExpress; Q9Y3T6; -.
DR Bgee; Q9Y3T6; -.
DR CleanEx; HS_R3HCC1; -.
DR Genevestigator; Q9Y3T6; -.
DR GO; GO:0003676; F:nucleic acid binding; IEA:InterPro.
DR GO; GO:0000166; F:nucleotide binding; IEA:InterPro.
DR Gene3D; 3.30.70.330; -; 1.
DR InterPro; IPR012677; Nucleotide-bd_a/b_plait.
DR InterPro; IPR001374; R3H_ss-bd.
DR Pfam; PF01424; R3H; 1.
DR SMART; SM00393; R3H; 1.
DR PROSITE; PS51061; R3H; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Complete proteome; Polymorphism;
KW Reference proteome.
FT CHAIN 1 480 R3H and coiled-coil domain-containing
FT protein 1.
FT /FTId=PRO_0000307389.
FT DOMAIN 56 121 R3H.
FT COILED 282 340 Potential.
FT VAR_SEQ 1 227 Missing (in isoform 2).
FT /FTId=VSP_040842.
FT VARIANT 136 136 A -> T (in dbSNP:rs6980542).
FT /FTId=VAR_035420.
FT VARIANT 185 185 R -> K (in dbSNP:rs3808536).
FT /FTId=VAR_035421.
FT VARIANT 347 347 V -> M (in dbSNP:rs2272761).
FT /FTId=VAR_035422.
FT VARIANT 403 403 L -> R (in dbSNP:rs13530).
FT /FTId=VAR_035423.
SQ SEQUENCE 480 AA; 53259 MW; 41834967F6021D76 CRC64;
MNMKASRVTL GEAGARARWP LGTPRAAATR REAAALPPVT LALLCLDGVF LSSAENDFVH
RIQEELDRFL LQKQLSKVLL FPPLSSRLRY LIHRTAENFD LLSSFSVGEG WKRRTVICHQ
DIRVPSSDGL SGPCRAPASC PSRYHGPRPI SNQGAAAVPR GARAGRWYRG RKPDQPLYVP
RVLRRQEEWG LTSTSVLKRE APAGRDPEEP GDVGAGDPNS DQGLPVLMTQ GTEDLKGPGQ
RCENEPLLDP VGPEPLGPES QSGKGDMVEM ATRFGSTLQL DLEKGKESLL EKRLVAEEEE
DEEEVEEDGP SSCSEDDYSE LLQEITDNLT KKEIQIEKIH LDTSSFVEEL PGEKDLAHVV
EIYDFEPALK TEDLLATFSE FQEKGFRIQW VDDTHALGIF PCLASAAEAL TREFSVLKIR
PLTQGTKQSK LKALQRPKLL RLVKERPQTN ATVARRLVAR ALGLQHKKKE RPAVRGPLPP
//