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Entry version 161 (07 Apr 2021)
Sequence version 3 (07 Mar 2006)
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Protein

R3H domain-containing protein 1

Gene

R3HDM1

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

<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

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q15032

<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 domain-containing protein 1
<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:R3HDM1
Synonyms:KIAA0029, R3HDM
<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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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 2

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:9757, R3HDM1

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q15032

Eukaryotic Pathogen, Vector and Host Database Resources

More...
VEuPathDBi
HostDB:ENSG00000048991.16

<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
23518

Open Targets

More...
OpenTargetsi
ENSG00000048991

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA34098

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q15032, Tdark

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
R3HDM1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
92086999

<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_00000971391 – 1099R3H domain-containing protein 1Add BLAST1099

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 residuei187PhosphoserineCombined sources1
Modified residuei262PhosphoserineCombined sources1
Modified residuei302PhosphoserineCombined sources1
Modified residuei380PhosphoserineCombined sources1
Modified residuei381PhosphoserineCombined sources1
Modified residuei393PhosphoserineCombined sources1
Modified residuei929Asymmetric dimethylarginine; alternateCombined sources1
Modified residuei929Omega-N-methylarginine; alternateCombined sources1
Modified residuei973PhosphoserineCombined 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

Methylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q15032

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q15032

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q15032

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q15032

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

More...
PaxDbi
Q15032

PeptideAtlas

More...
PeptideAtlasi
Q15032

PRoteomics IDEntifications database

More...
PRIDEi
Q15032

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
19186
20240
33934
60381 [Q15032-1]
60382 [Q15032-2]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...
GlyGeni
Q15032, 1 site, 1 O-linked glycan (1 site)

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q15032

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

More...
PhosphoSitePlusi
Q15032

<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
ENSG00000048991, Expressed in corpus callosum and 249 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q15032, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q15032, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000048991, Tissue enhanced (brain)

<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

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
117065, 64 interactors

Protein interaction database and analysis system

More...
IntActi
Q15032, 17 interactors

Molecular INTeraction database

More...
MINTi
Q15032

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000387010

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q15032, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q15032

Database of comparative protein structure models

More...
ModBasei
Search...

<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>Domaini168 – 231R3HPROSITE-ProRule annotationAdd BLAST64
Domaini232 – 302SUZPROSITE-ProRule annotationAdd BLAST71

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 amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi89 – 94Poly-Pro6
Compositional biasi589 – 608Poly-ProAdd BLAST20
Compositional biasi822 – 826Poly-Pro5

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2953, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000156095

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_007817_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q15032

Identification of Orthologs from Complete Genome Data

More...
OMAi
GHQCAAV

Database of Orthologous Groups

More...
OrthoDBi
137913at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q15032

TreeFam database of animal gene trees

More...
TreeFami
TF315915

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.30.1370.50, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR001374, R3H_dom
IPR036867, R3H_dom_sf
IPR024771, SUZ

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01424, R3H, 1 hit
PF12752, SUZ, 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
PS51673, SUZ, 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 (4+)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 4 <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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q15032-1) [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
MRMSDTVTVK DETATMKDLE AEVKDTTRVE NLIKSENYGK ILVEKNEHCI
60 70 80 90 100
ENNIDLQRPL QSFGQTGKRS KSSSKLKLVR SLAVCEESPP PPAPEISQEN
110 120 130 140 150
QEKIQIQLTQ SFEKEEKPSK DEAEKEKASD KLPRKMLSRD SSQEYTDSTG
160 170 180 190 200
IDLHEFLVNT LKNNPRDRMM LLKLEQEILD FIGNNESPRK KFPPMTSYHR
210 220 230 240 250
MLLHRVAAYF GLDHNVDQSG KSVIVNKTSN TRIPDQKFNE HIKDDKGEDF
260 270 280 290 300
QKRYILKRDN SSFDKDDNQM RIRLKDDRRS KSIEEREEEY QRARDRIFSQ
310 320 330 340 350
DSLCSQENYI IDKRLQDEDA SSTQQRRQIF RVNKDASGRS TNSHQSSTEN
360 370 380 390 400
ELKYSEPRPW SSTDSDSSLR NLKPAVTKAS SFSGISVLTR GDSSGSSKSI
410 420 430 440 450
GRLSKTGSES SGSVGSSTGS LSHIQQPLPG TALSQSSHGA PVVYPTVSTH
460 470 480 490 500
SSLSFDGGLN GQVASPSTSF FLLPLEAAGI PPGSILINPQ TGQPFINPDG
510 520 530 540 550
SPVVYNPPMT QQPVRSQVPG PPQPPLPAPP QQPAANHIFS QDNLGSQFSH
560 570 580 590 600
MSLARQPSAD GSDPHAAMFQ STVVLQSPQQ SGYIMTAAPP PHPPPPPPPP
610 620 630 640 650
PPPPPLPPGQ PVPTAGYPAS GHPVSQPVLQ QQGYIQQPSP QMPACYCAPG
660 670 680 690 700
HYHSSQPQYR PVPSVHYNSH LNQPLPQPAQ QTGYQVIPNQ QQNYQGIVGV
710 720 730 740 750
QQPQSQSLVS GQPNSIGNQI QGVVIPYTSV PTYQVSLPQG SQGIPHQTYQ
760 770 780 790 800
QPVMFPNQSN QGSMPTTGMP VYYSVIPPGQ QNNLSSSVGY LQHPGSEQVQ
810 820 830 840 850
FPRTTSPCSS QQLQGHQCTA GPPPPPGGGM VMMQLSVPNN PQSCAHSPPQ
860 870 880 890 900
WKQNKYYCDH QRGQKCVEFS SVDNIVQHSP QLSSPIISPA QSPAPAQLST
910 920 930 940 950
LKTVRPSGPP LSIMPQFSRP FVPGQGDSRY PLLGQPLQYN PPAVLHGHIP
960 970 980 990 1000
NQQGQPGSRH GNRGRRQAKK AASTDLGAGE TVVGKVLEIT ELPDGITRME
1010 1020 1030 1040 1050
AEKLFGELFK IGAKIRWLRD PQSQPRRHPL CCGSGDNTAN PERSKPSDLA
1060 1070 1080 1090
STYTVLATFP SISAAQNALK KQINSVNKFK LRTSKKHYDF HILERASSQ
Length:1,099
Mass (Da):120,696
Last modified:March 7, 2006 - 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:i67782B9163702174
GO
Isoform 2 (identifier: Q15032-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     57-100: Missing.
     406-490: Missing.
     541-541: Q → QQ

Show »
Length:971
Mass (Da):107,706
Checksum:i8077F2AF74E6B6C3
GO
Isoform 3 (identifier: Q15032-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     541-541: Q → QQ

Show »
Length:1,100
Mass (Da):120,824
Checksum:i64434909001F7E96
GO
Isoform 4 (identifier: Q15032-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-44: MRMSDTVTVK...SENYGKILVE → MGLLLPDYRW...TPQSQIQRTH
     45-100: Missing.
     541-541: Q → QQ

Show »
Length:1,044
Mass (Da):114,854
Checksum:i53DAA30221BECAC7
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 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7C2F9H7C2F9_HUMAN
R3H domain-containing protein 1
R3HDM1
284Annotation 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>
H7BZ47H7BZ47_HUMAN
R3H domain-containing protein 1
R3HDM1
194Annotation 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>
H7C3T7H7C3T7_HUMAN
R3H domain-containing protein 1
R3HDM1
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>
H7C1X4H7C1X4_HUMAN
R3H domain-containing protein 1
R3HDM1
186Annotation 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>
H7C207H7C207_HUMAN
R3H domain-containing protein 1
R3HDM1
823Annotation 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>
C9JIX1C9JIX1_HUMAN
R3H domain-containing protein 1
R3HDM1
65Annotation 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>
C9JIX3C9JIX3_HUMAN
R3H domain-containing protein 1
R3HDM1
50Annotation 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 BAA04878 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti125K → E in BAF82704 (PubMed:14702039).Curated1
Sequence conflicti902K → R in BAF82704 (PubMed:14702039).Curated1
Sequence conflicti1075S → L in BAF82704 (PubMed:14702039).Curated1

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_025423270M → V1 PublicationCorresponds to variant dbSNP:rs961360Ensembl.1
Natural variantiVAR_025424632Q → P1 PublicationCorresponds to variant dbSNP:rs2305165Ensembl.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_0543081 – 44MRMSD…KILVE → MGLLLPDYRWFTTVDILADN CEKEPWIILFYFCGTPQSQI QRTH in isoform 4. 1 PublicationAdd BLAST44
Alternative sequenceiVSP_05430945 – 100Missing in isoform 4. 1 PublicationAdd BLAST56
Alternative sequenceiVSP_01734457 – 100Missing in isoform 2. 1 PublicationAdd BLAST44
Alternative sequenceiVSP_017345406 – 490Missing in isoform 2. 1 PublicationAdd BLAST85
Alternative sequenceiVSP_054310541Q → QQ in isoform 2, isoform 3 and isoform 4. 3 Publications1

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
D21852 mRNA Translation: BAA04878.2 Different initiation.
AK127793 mRNA Translation: BAG54571.1
AK290015 mRNA Translation: BAF82704.1
AC011893 Genomic DNA No translation available.
AC016742 Genomic DNA No translation available.
CH471058 Genomic DNA Translation: EAX11627.1
BC041093 mRNA Translation: AAH41093.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS2177.1 [Q15032-1]
CCDS63024.1 [Q15032-4]
CCDS63025.1 [Q15032-3]
CCDS63026.1 [Q15032-2]

NCBI Reference Sequences

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RefSeqi
NP_001269727.1, NM_001282798.1 [Q15032-3]
NP_001269728.1, NM_001282799.1 [Q15032-2]
NP_001269729.1, NM_001282800.1 [Q15032-4]
NP_056176.2, NM_015361.3 [Q15032-1]
XP_006712452.1, XM_006712389.2
XP_016859207.1, XM_017003718.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000264160; ENSP00000264160; ENSG00000048991 [Q15032-1]
ENST00000409478; ENSP00000386457; ENSG00000048991 [Q15032-2]
ENST00000409606; ENSP00000387010; ENSG00000048991 [Q15032-3]
ENST00000410054; ENSP00000386877; ENSG00000048991 [Q15032-4]
ENST00000628915; ENSP00000486837; ENSG00000048991 [Q15032-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
23518

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:23518

UCSC genome browser

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UCSCi
uc002tuo.5, human [Q15032-1]

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
D21852 mRNA Translation: BAA04878.2 Different initiation.
AK127793 mRNA Translation: BAG54571.1
AK290015 mRNA Translation: BAF82704.1
AC011893 Genomic DNA No translation available.
AC016742 Genomic DNA No translation available.
CH471058 Genomic DNA Translation: EAX11627.1
BC041093 mRNA Translation: AAH41093.1
CCDSiCCDS2177.1 [Q15032-1]
CCDS63024.1 [Q15032-4]
CCDS63025.1 [Q15032-3]
CCDS63026.1 [Q15032-2]
RefSeqiNP_001269727.1, NM_001282798.1 [Q15032-3]
NP_001269728.1, NM_001282799.1 [Q15032-2]
NP_001269729.1, NM_001282800.1 [Q15032-4]
NP_056176.2, NM_015361.3 [Q15032-1]
XP_006712452.1, XM_006712389.2
XP_016859207.1, XM_017003718.1

3D structure databases

SMRiQ15032
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi117065, 64 interactors
IntActiQ15032, 17 interactors
MINTiQ15032
STRINGi9606.ENSP00000387010

PTM databases

GlyGeniQ15032, 1 site, 1 O-linked glycan (1 site)
iPTMnetiQ15032
PhosphoSitePlusiQ15032

Genetic variation databases

BioMutaiR3HDM1
DMDMi92086999

Proteomic databases

EPDiQ15032
jPOSTiQ15032
MassIVEiQ15032
MaxQBiQ15032
PaxDbiQ15032
PeptideAtlasiQ15032
PRIDEiQ15032
ProteomicsDBi19186
20240
33934
60381 [Q15032-1]
60382 [Q15032-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
51003, 11 antibodies

Genome annotation databases

EnsembliENST00000264160; ENSP00000264160; ENSG00000048991 [Q15032-1]
ENST00000409478; ENSP00000386457; ENSG00000048991 [Q15032-2]
ENST00000409606; ENSP00000387010; ENSG00000048991 [Q15032-3]
ENST00000410054; ENSP00000386877; ENSG00000048991 [Q15032-4]
ENST00000628915; ENSP00000486837; ENSG00000048991 [Q15032-2]
GeneIDi23518
KEGGihsa:23518
UCSCiuc002tuo.5, human [Q15032-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
23518
DisGeNETi23518

GeneCards: human genes, protein and diseases

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GeneCardsi
R3HDM1
HGNCiHGNC:9757, R3HDM1
HPAiENSG00000048991, Tissue enhanced (brain)
neXtProtiNX_Q15032
OpenTargetsiENSG00000048991
PharmGKBiPA34098
VEuPathDBiHostDB:ENSG00000048991.16

Human Unidentified Gene-Encoded large proteins database

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HUGEi
Search...

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2953, Eukaryota
GeneTreeiENSGT00940000156095
HOGENOMiCLU_007817_0_0_1
InParanoidiQ15032
OMAiGHQCAAV
OrthoDBi137913at2759
PhylomeDBiQ15032
TreeFamiTF315915

Enzyme and pathway databases

PathwayCommonsiQ15032

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
23518, 7 hits in 995 CRISPR screens

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

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ChiTaRSi
R3HDM1, human

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

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GenomeRNAii
23518
PharosiQ15032, Tdark

Protein Ontology

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PROi
PR:Q15032
RNActiQ15032, protein

Gene expression databases

BgeeiENSG00000048991, Expressed in corpus callosum and 249 other tissues
ExpressionAtlasiQ15032, baseline and differential
GenevisibleiQ15032, HS

Family and domain databases

Gene3Di3.30.1370.50, 1 hit
InterProiView protein in InterPro
IPR001374, R3H_dom
IPR036867, R3H_dom_sf
IPR024771, SUZ
PfamiView protein in Pfam
PF01424, R3H, 1 hit
PF12752, SUZ, 1 hit
SMARTiView protein in SMART
SM00393, R3H, 1 hit
SUPFAMiSSF82708, SSF82708, 1 hit
PROSITEiView protein in PROSITE
PS51061, R3H, 1 hit
PS51673, SUZ, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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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 nameiR3HD1_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: Q15032
Secondary accession number(s): A8K1V0
, B3KXQ9, E9PBB4, E9PG42, G5E9G8, Q8IW32
<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: July 15, 1998
Last sequence update: March 7, 2006
Last modified: April 7, 2021
This is version 161 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 2
    Human chromosome 2: 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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