UniProtKB - Q9Y3T6 (R3HC1_HUMAN)
Protein
R3H and coiled-coil domain-containing protein 1
Gene
R3HCC1
Organism
Homo sapiens (Human)
Status
Functioni
Caution
Ribosome profiling data indicate that translation initiates from the non-AUG (CUG) codon used here.Curated
GO - Molecular functioni
- nucleic acid binding Source: InterPro
Enzyme and pathway databases
PathwayCommonsi | Q9Y3T6 |
Names & Taxonomyi
Protein namesi | Recommended name: R3H and coiled-coil domain-containing protein 1Imported |
Gene namesi | Name:R3HCC1Imported |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000104679.10 |
HGNCi | HGNC:27329, R3HCC1 |
neXtProti | NX_Q9Y3T6 |
Pathology & Biotechi
Organism-specific databases
DisGeNETi | 203069 |
PharmGKBi | PA142671108 |
Miscellaneous databases
Pharosi | Q9Y3T6, Tdark |
Polymorphism and mutation databases
BioMutai | R3HCC1 |
DMDMi | 160017981 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000307389 | 1 – 440 | R3H and coiled-coil domain-containing protein 1Add BLAST | 440 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 236 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q9Y3T6 |
jPOSTi | Q9Y3T6 |
MassIVEi | Q9Y3T6 |
PaxDbi | Q9Y3T6 |
PeptideAtlasi | Q9Y3T6 |
PRIDEi | Q9Y3T6 |
ProteomicsDBi | 86076 [Q9Y3T6-1] |
PTM databases
iPTMneti | Q9Y3T6 |
PhosphoSitePlusi | Q9Y3T6 |
Expressioni
Gene expression databases
Bgeei | ENSG00000104679, Expressed in C1 segment of cervical spinal cord and 248 other tissues |
ExpressionAtlasi | Q9Y3T6, baseline and differential |
Genevisiblei | Q9Y3T6, HS |
Organism-specific databases
HPAi | ENSG00000104679, Low tissue specificity |
Interactioni
Protein-protein interaction databases
BioGRIDi | 128445, 4 interactors |
IntActi | Q9Y3T6, 3 interactors |
STRINGi | 9606.ENSP00000265806 |
Miscellaneous databases
RNActi | Q9Y3T6, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 16 – 81 | R3HPROSITE-ProRule annotationAdd BLAST | 66 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 242 – 300 | Sequence analysisAdd BLAST | 59 |
Keywords - Domaini
Coiled coilPhylogenomic databases
eggNOGi | KOG4483, Eukaryota |
InParanoidi | Q9Y3T6 |
OrthoDBi | 844916at2759 |
TreeFami | TF324168 |
Family and domain databases
Gene3Di | 3.30.1370.50, 1 hit 3.30.70.330, 1 hit |
InterProi | View protein in InterPro IPR012677, Nucleotide-bd_a/b_plait_sf IPR001374, R3H_dom IPR036867, R3H_dom_sf IPR039884, R3HC1/R3HCL |
PANTHERi | PTHR21678, PTHR21678, 1 hit |
Pfami | View protein in Pfam PF01424, R3H, 1 hit |
SMARTi | View protein in SMART SM00393, R3H, 1 hit |
SUPFAMi | SSF82708, SSF82708, 1 hit |
PROSITEi | View protein in PROSITE PS51061, R3H, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q9Y3T6-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MALLCLDGVF LSSAENDFVH RIQEELDRFL LQKQLSKVLL FPPLSSRLRY
60 70 80 90 100
LIHRTAENFD LLSSFSVGEG WKRRTVICHQ DIRVPSSDGL SGPCRAPASC
110 120 130 140 150
PSRYHGPRPI SNQGAAAVPR GARAGRWYRG RKPDQPLYVP RVLRRQEEWG
160 170 180 190 200
LTSTSVLKRE APAGRDPEEP GDVGAGDPNS DQGLPVLMTQ GTEDLKGPGQ
210 220 230 240 250
RCENEPLLDP VGPEPLGPES QSGKGDMVEM ATRFGSTLQL DLEKGKESLL
260 270 280 290 300
EKRLVAEEEE DEEEVEEDGP SSCSEDDYSE LLQEITDNLT KKEIQIEKIH
310 320 330 340 350
LDTSSFVEEL PGEKDLAHVV EIYDFEPALK TEDLLATFSE FQEKGFRIQW
360 370 380 390 400
VDDTHALGIF PCLASAAEAL TREFSVLKIR PLTQGTKQSK LKALQRPKLL
410 420 430 440
RLVKERPQTN ATVARRLVAR ALGLQHKKKE RPAVRGPLPP
Computationally mapped potential isoform sequencesi
There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketE5RIK1 | E5RIK1_HUMAN | R3H and coiled-coil domain-containi... | R3HCC1 | 311 | Annotation score: | ||
E5RIQ4 | E5RIQ4_HUMAN | R3H and coiled-coil domain-containi... | R3HCC1 | 283 | Annotation score: | ||
A0A0D9SF44 | A0A0D9SF44_HUMAN | R3H and coiled-coil domain-containi... | R3HCC1 | 398 | Annotation score: | ||
A0A0R4J2E2 | A0A0R4J2E2_HUMAN | R3H and coiled-coil domain-containi... | R3HCC1 | 440 | Annotation score: | ||
E5RHX3 | E5RHX3_HUMAN | R3H and coiled-coil domain-containi... | R3HCC1 | 223 | Annotation score: | ||
A0A0D9SG39 | A0A0D9SG39_HUMAN | R3H and coiled-coil domain-containi... | R3HCC1 | 201 | Annotation score: | ||
H0YBU3 | H0YBU3_HUMAN | R3H and coiled-coil domain-containi... | R3HCC1 | 148 | Annotation score: | ||
A0A0D9SFI4 | A0A0D9SFI4_HUMAN | R3H and coiled-coil domain-containi... | R3HCC1 | 43 | Annotation score: |
Sequence cautioni
The sequence AAI43823 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence AAI43830 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence CAB43396 differs from that shown. Contaminating sequence. Cloning artifact and potential poly-A sequence.Curated
The sequence CAB43396 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence EAW63629 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence EAW63630 differs from that shown. Reason: Erroneous gene model prediction.Curated
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_035420 | 96 | A → T. Corresponds to variant dbSNP:rs6980542Ensembl. | 1 | |
Natural variantiVAR_035421 | 145 | R → K. Corresponds to variant dbSNP:rs3808536Ensembl. | 1 | |
Natural variantiVAR_035422 | 307 | V → M. Corresponds to variant dbSNP:rs2272761Ensembl. | 1 | |
Natural variantiVAR_035423 | 363 | L → R. Corresponds to variant dbSNP:rs13530Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_058566 | 103 – 144 | Missing in isoform 2. 1 PublicationAdd BLAST | 42 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AC090197 Genomic DNA No translation available. CH471080 Genomic DNA Translation: EAW63629.1 Sequence problems. CH471080 Genomic DNA Translation: EAW63630.1 Sequence problems. BC143822 mRNA Translation: AAI43823.1 Different initiation. BC143829 mRNA Translation: AAI43830.1 Different initiation. AL050297 mRNA Translation: CAB43396.1 Sequence problems. |
CCDSi | CCDS47826.2 [Q9Y3T6-1] CCDS78317.1 [Q9Y3T6-3] |
PIRi | T08701 |
RefSeqi | NP_001129580.2, NM_001136108.2 [Q9Y3T6-1] NP_001288579.1, NM_001301650.1 [Q9Y3T6-3] |
Genome annotation databases
Ensembli | ENST00000411463; ENSP00000397555; ENSG00000104679 |
GeneIDi | 203069 |
KEGGi | hsa:203069 |
UCSCi | uc003xdf.4, human [Q9Y3T6-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AC090197 Genomic DNA No translation available. CH471080 Genomic DNA Translation: EAW63629.1 Sequence problems. CH471080 Genomic DNA Translation: EAW63630.1 Sequence problems. BC143822 mRNA Translation: AAI43823.1 Different initiation. BC143829 mRNA Translation: AAI43830.1 Different initiation. AL050297 mRNA Translation: CAB43396.1 Sequence problems. |
CCDSi | CCDS47826.2 [Q9Y3T6-1] CCDS78317.1 [Q9Y3T6-3] |
PIRi | T08701 |
RefSeqi | NP_001129580.2, NM_001136108.2 [Q9Y3T6-1] NP_001288579.1, NM_001301650.1 [Q9Y3T6-3] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 128445, 4 interactors |
IntActi | Q9Y3T6, 3 interactors |
STRINGi | 9606.ENSP00000265806 |
PTM databases
iPTMneti | Q9Y3T6 |
PhosphoSitePlusi | Q9Y3T6 |
Polymorphism and mutation databases
BioMutai | R3HCC1 |
DMDMi | 160017981 |
Proteomic databases
EPDi | Q9Y3T6 |
jPOSTi | Q9Y3T6 |
MassIVEi | Q9Y3T6 |
PaxDbi | Q9Y3T6 |
PeptideAtlasi | Q9Y3T6 |
PRIDEi | Q9Y3T6 |
ProteomicsDBi | 86076 [Q9Y3T6-1] |
Protocols and materials databases
Antibodypediai | 5331, 31 antibodies |
Genome annotation databases
Ensembli | ENST00000411463; ENSP00000397555; ENSG00000104679 |
GeneIDi | 203069 |
KEGGi | hsa:203069 |
UCSCi | uc003xdf.4, human [Q9Y3T6-1] |
Organism-specific databases
CTDi | 203069 |
DisGeNETi | 203069 |
EuPathDBi | HostDB:ENSG00000104679.10 |
GeneCardsi | R3HCC1 |
HGNCi | HGNC:27329, R3HCC1 |
HPAi | ENSG00000104679, Low tissue specificity |
neXtProti | NX_Q9Y3T6 |
PharmGKBi | PA142671108 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4483, Eukaryota |
InParanoidi | Q9Y3T6 |
OrthoDBi | 844916at2759 |
TreeFami | TF324168 |
Enzyme and pathway databases
PathwayCommonsi | Q9Y3T6 |
Miscellaneous databases
BioGRID-ORCSi | 203069, 13 hits in 843 CRISPR screens |
ChiTaRSi | R3HCC1, human |
GenomeRNAii | 203069 |
Pharosi | Q9Y3T6, Tdark |
PROi | PR:Q9Y3T6 |
RNActi | Q9Y3T6, protein |
Gene expression databases
Bgeei | ENSG00000104679, Expressed in C1 segment of cervical spinal cord and 248 other tissues |
ExpressionAtlasi | Q9Y3T6, baseline and differential |
Genevisiblei | Q9Y3T6, HS |
Family and domain databases
Gene3Di | 3.30.1370.50, 1 hit 3.30.70.330, 1 hit |
InterProi | View protein in InterPro IPR012677, Nucleotide-bd_a/b_plait_sf IPR001374, R3H_dom IPR036867, R3H_dom_sf IPR039884, R3HC1/R3HCL |
PANTHERi | PTHR21678, PTHR21678, 1 hit |
Pfami | View protein in Pfam PF01424, R3H, 1 hit |
SMARTi | View protein in SMART SM00393, R3H, 1 hit |
SUPFAMi | SSF82708, SSF82708, 1 hit |
PROSITEi | View protein in PROSITE PS51061, R3H, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | R3HC1_HUMAN | |
Accessioni | Q9Y3T6Primary (citable) accession number: Q9Y3T6 Secondary accession number(s): B7ZLI1 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 23, 2007 |
Last sequence update: | November 2, 2016 | |
Last modified: | December 2, 2020 | |
This is version 129 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - Human chromosome 8
Human chromosome 8: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations