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UniProtKB - Q9Y3T6 (R3HC1_HUMAN)

Entry version 132 (02 Jun 2021)
Sequence version 3 (02 Nov 2016)
Previous versions | rss
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Caution

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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9Y3T6

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
R3H and coiled-coil domain-containing protein 1Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:R3HCC1Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 8

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:27329, R3HCC1

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9Y3T6

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000104679.10

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...DisGeNETi		203069

Open Targets

More...OpenTargetsi		ENSG00000104679

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA142671108

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9Y3T6, Tdark

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		R3HCC1

Domain mapping of disease mutations (DMDM)

More...DMDMi		160017981

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003073891 – 440R3H and coiled-coil domain-containing protein 1Add BLAST440

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei236PhosphoserineCombined sources1

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9Y3T6

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9Y3T6

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9Y3T6

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q9Y3T6

PeptideAtlas

More...PeptideAtlasi		Q9Y3T6

PRoteomics IDEntifications database

More...PRIDEi		Q9Y3T6

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		86076 [Q9Y3T6-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9Y3T6

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q9Y3T6

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000104679, Expressed in C1 segment of cervical spinal cord and 249 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9Y3T6, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9Y3T6, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000104679, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		128445, 4 interactors

Protein interaction database and analysis system

More...IntActi		Q9Y3T6, 3 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000265806

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9Y3T6, protein

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini16 – 81R3HPROSITE-ProRule annotationAdd BLAST66

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni154 – 225DisorderedSequence analysisAdd BLAST72
Regioni254 – 276DisorderedSequence analysisAdd BLAST23

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and domains' section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili242 – 300Sequence analysisAdd BLAST59

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi256 – 274Acidic residuesSequence analysisAdd BLAST19

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG4483, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00530000063711

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9Y3T6

Database of Orthologous Groups

More...OrthoDBi		844916at2759

TreeFam database of animal gene trees

More...TreeFami		TF324168

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.30.1370.50, 1 hit
3.30.70.330, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR012677, Nucleotide-bd_a/b_plait_sf
IPR001374, R3H_dom
IPR036867, R3H_dom_sf
IPR039884, R3HC1/R3HCL

The PANTHER Classification System

More...PANTHERi		PTHR21678, PTHR21678, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF01424, R3H, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00393, R3H, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF82708, SSF82708, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS51061, R3H, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 9 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 <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0D9SF44A0A0D9SF44_HUMAN
R3H and coiled-coil domain-containi...
R3HCC1
398Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0R4J2E2A0A0R4J2E2_HUMAN
R3H and coiled-coil domain-containi...
R3HCC1
440Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E5RHX3E5RHX3_HUMAN
R3H and coiled-coil domain-containi...
R3HCC1
223Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E5RIK1E5RIK1_HUMAN
R3H and coiled-coil domain-containi...
R3HCC1
311Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E5RIQ4E5RIQ4_HUMAN
R3H and coiled-coil domain-containi...
R3HCC1
283Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0D9SG39A0A0D9SG39_HUMAN
R3H and coiled-coil domain-containi...
R3HCC1
201Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YBU3H0YBU3_HUMAN
R3H and coiled-coil domain-containi...
R3HCC1
148Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0D9SFI4A0A0D9SFI4_HUMAN
R3H and coiled-coil domain-containi...
R3HCC1
43Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A7P0N5L0A0A7P0N5L0_HUMAN
R3H and coiled-coil domain-containi...
R3HCC1
480Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>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 keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_058566103 – 144Missing in isoform 2. 1 PublicationAdd BLAST42

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS47826.2 [Q9Y3T6-1]
CCDS78317.1 [Q9Y3T6-3]

Protein sequence database of the Protein Information Resource

More...PIRi		T08701

NCBI Reference Sequences

More...RefSeqi		NP_001129580.2, NM_001136108.2 [Q9Y3T6-1]
NP_001288579.1, NM_001301650.1 [Q9Y3T6-3]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000265806; ENSP00000265806; ENSG00000104679 [Q9Y3T6-1]
ENST00000625275; ENSP00000486278; ENSG00000104679 [Q9Y3T6-3]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		203069

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:203069

UCSC genome browser

More...UCSCi		uc003xdf.4, human [Q9Y3T6-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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.
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]

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi128445, 4 interactors
IntActiQ9Y3T6, 3 interactors
STRINGi9606.ENSP00000265806

PTM databases

iPTMnetiQ9Y3T6
PhosphoSitePlusiQ9Y3T6

Genetic variation databases

BioMutaiR3HCC1
DMDMi160017981

Proteomic databases

EPDiQ9Y3T6
jPOSTiQ9Y3T6
MassIVEiQ9Y3T6
PaxDbiQ9Y3T6
PeptideAtlasiQ9Y3T6
PRIDEiQ9Y3T6
ProteomicsDBi86076 [Q9Y3T6-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		5331, 32 antibodies

The DNASU plasmid repository

More...DNASUi		203069

Genome annotation databases

EnsembliENST00000265806; ENSP00000265806; ENSG00000104679 [Q9Y3T6-1]
ENST00000625275; ENSP00000486278; ENSG00000104679 [Q9Y3T6-3]
GeneIDi203069
KEGGihsa:203069
UCSCiuc003xdf.4, human [Q9Y3T6-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		203069
DisGeNETi203069

GeneCards: human genes, protein and diseases

More...GeneCardsi		R3HCC1
HGNCiHGNC:27329, R3HCC1
HPAiENSG00000104679, Low tissue specificity
neXtProtiNX_Q9Y3T6
OpenTargetsiENSG00000104679
PharmGKBiPA142671108
VEuPathDBiHostDB:ENSG00000104679.10

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG4483, Eukaryota
GeneTreeiENSGT00530000063711
InParanoidiQ9Y3T6
OrthoDBi844916at2759
TreeFamiTF324168

Enzyme and pathway databases

PathwayCommonsiQ9Y3T6

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		203069, 14 hits in 995 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		R3HCC1, human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		203069
PharosiQ9Y3T6, Tdark

Protein Ontology

More...PROi		PR:Q9Y3T6
RNActiQ9Y3T6, protein

Gene expression databases

BgeeiENSG00000104679, Expressed in C1 segment of cervical spinal cord and 249 other tissues
ExpressionAtlasiQ9Y3T6, baseline and differential
GenevisibleiQ9Y3T6, HS

Family and domain databases

Gene3Di3.30.1370.50, 1 hit
3.30.70.330, 1 hit
InterProiView protein in InterPro
IPR012677, Nucleotide-bd_a/b_plait_sf
IPR001374, R3H_dom
IPR036867, R3H_dom_sf
IPR039884, R3HC1/R3HCL
PANTHERiPTHR21678, PTHR21678, 1 hit
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

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiR3HC1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9Y3T6
Secondary accession number(s): B7ZLI1
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 23, 2007
Last sequence update: November 2, 2016
Last modified: June 2, 2021
This is version 132 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
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