R3HC1_HUMAN
ID R3HC1_HUMAN Reviewed; 440 AA.
AC Q9Y3T6; B7ZLI1;
DT 23-OCT-2007, integrated into UniProtKB/Swiss-Prot.
DT 02-NOV-2016, sequence version 3.
DT 03-AUG-2022, entry version 136.
DE RecName: Full=R3H and coiled-coil domain-containing protein 1 {ECO:0000312|HGNC:HGNC:27329};
GN Name=R3HCC1 {ECO:0000312|HGNC:HGNC:27329};
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC 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., Garber M.,
RA Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L.,
RA Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S.,
RA Asakawa T., Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A.,
RA Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III,
RA Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K.,
RA Jaffe D.B., 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., O'Leary S.B.,
RA O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K.,
RA Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L.,
RA Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G.,
RA Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W.,
RA Platzer M., Shimizu N., 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., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 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 project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-429 (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., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA 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., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [6]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-236, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma, and Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9Y3T6-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9Y3T6-3; Sequence=VSP_058566;
CC -!- CAUTION: Ribosome profiling data indicate that translation initiates
CC from the non-AUG (CUG) codon used here. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAI43823.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=AAI43830.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=CAB43396.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=CAB43396.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Cloning artifact and potential poly-A sequence.; Evidence={ECO:0000305};
CC Sequence=EAW63629.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
CC Sequence=EAW63630.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AC090197; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471080; EAW63629.1; ALT_SEQ; Genomic_DNA.
DR EMBL; CH471080; EAW63630.1; ALT_SEQ; Genomic_DNA.
DR EMBL; BC143822; AAI43823.1; ALT_INIT; mRNA.
DR EMBL; BC143829; AAI43830.1; ALT_INIT; mRNA.
DR EMBL; AL050297; CAB43396.1; ALT_SEQ; mRNA.
DR CCDS; CCDS47826.2; -. [Q9Y3T6-1]
DR CCDS; CCDS78317.1; -. [Q9Y3T6-3]
DR PIR; T08701; T08701.
DR RefSeq; NP_001129580.2; NM_001136108.2. [Q9Y3T6-1]
DR RefSeq; NP_001288579.1; NM_001301650.1. [Q9Y3T6-3]
DR AlphaFoldDB; Q9Y3T6; -.
DR SMR; Q9Y3T6; -.
DR BioGRID; 128445; 5.
DR IntAct; Q9Y3T6; 3.
DR STRING; 9606.ENSP00000265806; -.
DR GlyGen; Q9Y3T6; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q9Y3T6; -.
DR PhosphoSitePlus; Q9Y3T6; -.
DR BioMuta; R3HCC1; -.
DR DMDM; 160017981; -.
DR EPD; Q9Y3T6; -.
DR jPOST; Q9Y3T6; -.
DR MassIVE; Q9Y3T6; -.
DR MaxQB; Q9Y3T6; -.
DR PaxDb; Q9Y3T6; -.
DR PeptideAtlas; Q9Y3T6; -.
DR PRIDE; Q9Y3T6; -.
DR ProteomicsDB; 86076; -. [Q9Y3T6-1]
DR Antibodypedia; 5331; 32 antibodies from 11 providers.
DR DNASU; 203069; -.
DR Ensembl; ENST00000265806.12; ENSP00000265806.8; ENSG00000104679.12. [Q9Y3T6-1]
DR Ensembl; ENST00000625275.3; ENSP00000486278.2; ENSG00000104679.12. [Q9Y3T6-3]
DR GeneID; 203069; -.
DR KEGG; hsa:203069; -.
DR MANE-Select; ENST00000265806.12; ENSP00000265806.8; NM_001136108.3; NP_001129580.2.
DR UCSC; uc003xdf.4; human. [Q9Y3T6-1]
DR CTD; 203069; -.
DR DisGeNET; 203069; -.
DR GeneCards; R3HCC1; -.
DR HGNC; HGNC:27329; R3HCC1.
DR HPA; ENSG00000104679; Low tissue specificity.
DR neXtProt; NX_Q9Y3T6; -.
DR OpenTargets; ENSG00000104679; -.
DR PharmGKB; PA142671108; -.
DR VEuPathDB; HostDB:ENSG00000104679; -.
DR eggNOG; KOG4483; Eukaryota.
DR GeneTree; ENSGT00530000063711; -.
DR InParanoid; Q9Y3T6; -.
DR OMA; HPGKYRG; -.
DR OrthoDB; 844916at2759; -.
DR TreeFam; TF324168; -.
DR PathwayCommons; Q9Y3T6; -.
DR SignaLink; Q9Y3T6; -.
DR BioGRID-ORCS; 203069; 18 hits in 1077 CRISPR screens.
DR ChiTaRS; R3HCC1; human.
DR GenomeRNAi; 203069; -.
DR Pharos; Q9Y3T6; Tdark.
DR PRO; PR:Q9Y3T6; -.
DR Proteomes; UP000005640; Chromosome 8.
DR RNAct; Q9Y3T6; protein.
DR Bgee; ENSG00000104679; Expressed in C1 segment of cervical spinal cord and 209 other tissues.
DR ExpressionAtlas; Q9Y3T6; baseline and differential.
DR Genevisible; Q9Y3T6; HS.
DR GO; GO:0003676; F:nucleic acid binding; IEA:InterPro.
DR Gene3D; 3.30.1370.50; -; 1.
DR Gene3D; 3.30.70.330; -; 1.
DR InterPro; IPR012677; Nucleotide-bd_a/b_plait_sf.
DR InterPro; IPR001374; R3H_dom.
DR InterPro; IPR036867; R3H_dom_sf.
DR InterPro; IPR039884; R3HC1/R3HCL.
DR PANTHER; PTHR21678; PTHR21678; 1.
DR Pfam; PF01424; R3H; 1.
DR SMART; SM00393; R3H; 1.
DR SUPFAM; SSF82708; SSF82708; 1.
DR PROSITE; PS51061; R3H; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Phosphoprotein; Reference proteome.
FT CHAIN 1..440
FT /note="R3H and coiled-coil domain-containing protein 1"
FT /id="PRO_0000307389"
FT DOMAIN 16..81
FT /note="R3H"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00382"
FT REGION 154..225
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 254..276
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 242..300
FT /evidence="ECO:0000255"
FT COMPBIAS 256..274
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 236
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT VAR_SEQ 103..144
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_058566"
FT VARIANT 96
FT /note="A -> T (in dbSNP:rs6980542)"
FT /id="VAR_035420"
FT VARIANT 145
FT /note="R -> K (in dbSNP:rs3808536)"
FT /id="VAR_035421"
FT VARIANT 307
FT /note="V -> M (in dbSNP:rs2272761)"
FT /id="VAR_035422"
FT VARIANT 363
FT /note="L -> R (in dbSNP:rs13530)"
FT /id="VAR_035423"
SQ SEQUENCE 440 AA; 49092 MW; C035A7E2E3F957C5 CRC64;
MALLCLDGVF 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
