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Protein

R3H and coiled-coil domain-containing protein 1

Gene

R3HCC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

Names & Taxonomyi

Protein namesi
Recommended name:
R3H and coiled-coil domain-containing protein 1Imported
Gene namesi
Name:R3HCC1Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

EuPathDBiHostDB:ENSG00000104679.10.
HGNCiHGNC:27329. R3HCC1.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Pathology & Biotechi

Organism-specific databases

DisGeNETi203069.
PharmGKBiPA142671108.

Polymorphism and mutation databases

DMDMi160017981.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003073891 – 440R3H and coiled-coil domain-containing protein 1Add BLAST440

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei236PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9Y3T6.
PaxDbiQ9Y3T6.
PeptideAtlasiQ9Y3T6.
PRIDEiQ9Y3T6.

PTM databases

iPTMnetiQ9Y3T6.
PhosphoSitePlusiQ9Y3T6.

Expressioni

Gene expression databases

BgeeiENSG00000104679.
CleanExiHS_R3HCC1.
ExpressionAtlasiQ9Y3T6. baseline and differential.
GenevisibleiQ9Y3T6. HS.

Organism-specific databases

HPAiHPA023073.
HPA023153.

Interactioni

Protein-protein interaction databases

BioGridi128445. 3 interactors.
IntActiQ9Y3T6. 3 interactors.
STRINGi9606.ENSP00000265806.

Structurei

3D structure databases

ProteinModelPortaliQ9Y3T6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini16 – 81R3HPROSITE-ProRule annotationAdd BLAST66

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili242 – 300Sequence analysisAdd BLAST59

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG4483. Eukaryota.
ENOG4110UEV. LUCA.
HOGENOMiHOG000154058.
HOVERGENiHBG106598.
InParanoidiQ9Y3T6.
OrthoDBiEOG091G06NY.
TreeFamiTF324168.

Family and domain databases

Gene3Di3.30.1370.50. 1 hit.
InterProiView protein in InterPro
IPR001374. R3H_dom.
PfamiView protein in Pfam
PF01424. R3H. 1 hit.
SMARTiView protein in SMART
SM00393. R3H. 1 hit.
SUPFAMiSSF82708. SSF82708. 1 hit.
PROSITEiView protein in PROSITE
PS51061. R3H. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9Y3T6-1) [UniParc]FASTAAdd to basket

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.

« Hide

        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
Length:440
Mass (Da):49,092
Last modified:November 2, 2016 - v3
Checksum:iC035A7E2E3F957C5
GO
Isoform 2 (identifier: Q9Y3T6-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     103-144: Missing.

Show »
Length:398
Mass (Da):44,312
Checksum:iEC08FD33BB9CCD3E
GO

Sequence cautioni

The sequence AAI43823 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAI43830 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.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. Translation N-terminally extended.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 keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03542096A → T. Corresponds to variant dbSNP:rs6980542Ensembl.1
Natural variantiVAR_035421145R → K. Corresponds to variant dbSNP:rs3808536Ensembl.1
Natural variantiVAR_035422307V → M. Corresponds to variant dbSNP:rs2272761Ensembl.1
Natural variantiVAR_035423363L → R. Corresponds to variant dbSNP:rs13530Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_058566103 – 144Missing in isoform 2. 1 PublicationAdd BLAST42

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.
CCDSiCCDS47826.2. [Q9Y3T6-1]
CCDS78317.1. [Q9Y3T6-3]
PIRiT08701.
RefSeqiNP_001129580.2. NM_001136108.2. [Q9Y3T6-1]
NP_001288579.1. NM_001301650.1. [Q9Y3T6-3]
UniGeneiHs.458644.

Genome annotation databases

EnsembliENST00000411463; ENSP00000397555; ENSG00000104679.
GeneIDi203069.
KEGGihsa:203069.
UCSCiuc003xdf.4. human. [Q9Y3T6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiR3HC1_HUMAN
AccessioniPrimary (citable) accession number: Q9Y3T6
Secondary accession number(s): B7ZLI1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 23, 2007
Last sequence update: November 2, 2016
Last modified: September 27, 2017
This is version 111 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Caution

Ribosome profiling data indicate that translation initiates from the non-AUG (CUG) codon used here.Curated

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations