Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

UniProtKB - Q8WYR4 (RSPH1_HUMAN)

Entry version 141 (10 Feb 2021)
Sequence version 1 (01 Mar 2002)
Previous versions | rss
Add a publicationFeedback
Protein

Radial spoke head 1 homolog

Gene

RSPH1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 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

May play an important role in male meiosis (By similarity). It is necessary for proper building of the axonemal central pair and radial spokes.By similarity1 Publication

<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 - Biological processi

Complete GO annotation on QuickGO ...

<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>Keywordsi

Biological processMeiosis

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q8WYR4

<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:
Radial spoke head 1 homolog
Alternative name(s):
Cancer/testis antigen 79
Short name:
CT79
Male meiotic metaphase chromosome-associated acidic protein
Meichroacidin
Testis-specific gene A2 protein
<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:RSPH1
Synonyms:TSA2, TSGA2
<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 21

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:12371, RSPH1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		609314, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q8WYR4

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000160188.9

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection, Cytoplasm

<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

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Ciliary dyskinesia, primary, 24 (CILD24)2 Publications
The disease is caused by variants affecting the gene represented in this entry. RSPH1 mutations result in a primary ciliary diskinesia phenotype with defects of the radial spokes and the axonemal central pair of microtubules (PubMed:23993197).1 Publication
Disease descriptionA disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Situs inversus is not observed in CILD24 patients.
Related information in OMIM
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_070564103G → D in CILD24. 1 PublicationCorresponds to variant dbSNP:rs587777060EnsemblClinVar.1

Keywords - Diseasei

Ciliopathy, Disease variant, Primary ciliary dyskinesia

Organism-specific databases

DisGeNET

More...DisGeNETi		89765

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		RSPH1

MalaCards human disease database

More...MalaCardsi		RSPH1
MIMi615481, phenotype

Open Targets

More...OpenTargetsi		ENSG00000160188

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		244, Primary ciliary dyskinesia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA162402177

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q8WYR4, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		RSPH1

Domain mapping of disease mutations (DMDM)

More...DMDMi		21542279

<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_00000656621 – 309Radial spoke head 1 homologAdd BLAST309

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q8WYR4

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q8WYR4

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

More...PaxDbi		Q8WYR4

PeptideAtlas

More...PeptideAtlasi		Q8WYR4

PRoteomics IDEntifications database

More...PRIDEi		Q8WYR4

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		2268
75197 [Q8WYR4-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q8WYR4

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

More...PhosphoSitePlusi		Q8WYR4

<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

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in trachea, lungs, airway brushings, and testes.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000160188, Expressed in bronchial epithelial cell and 168 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q8WYR4, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000160188, Tissue enhanced (brain, fallopian tube)

<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 the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with RSPH6A.

By similarity

<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		124591, 6 interactors

Protein interaction database and analysis system

More...IntActi		Q8WYR4, 1 interactor

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000291536

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q8WYR4, 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		Q8WYR4

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 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati20 – 43MORN 1Add BLAST24
Repeati44 – 66MORN 2Add BLAST23
Repeati67 – 89MORN 3Add BLAST23
Repeati90 – 112MORN 4Add BLAST23
Repeati113 – 135MORN 5Add BLAST23
Repeati159 – 181MORN 6Add BLAST23

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 biasi195 – 201Poly-Glu7
Compositional biasi298 – 301Poly-Glu4

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0231, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000157240

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_032017_2_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q8WYR4

Identification of Orthologs from Complete Genome Data

More...OMAi		TWVHGQQ

Database of Orthologous Groups

More...OrthoDBi		1309439at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q8WYR4

TreeFam database of animal gene trees

More...TreeFami		TF329346

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR003409, MORN

Pfam protein domain database

More...Pfami		View protein in Pfam
PF02493, MORN, 7 hits

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00698, MORN, 5 hits

<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. 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
Isoform 1 (identifier: Q8WYR4-1) [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
MSDLGSEELE EEGENDIGEY EGGRNEAGER HGRGRARLPN GDTYEGSYEF 
        60         70         80         90        100
GKRHGQGIYK FKNGARYIGE YVRNKKHGQG TFIYPDGSRY EGEWANDLRH 
       110        120        130        140        150
GHGVYYYINN DTYTGEWFAH QRHGQGTYLY AETGSKYVGT WVNGQQEGTA 
       160        170        180        190        200
ELIHLNHRYQ GKFLNKNPVG PGKYVFDVGC EQHGEYRLTD MERGEEEEEE 
       210        220        230        240        250
ELVTVVPKWK ATQITELALW TPTLPKKPTS TDGPGQDAPG AESAGEPGEE 
       260        270        280        290        300
AQALLEGFEG EMDMRPGDED ADVLREESRE YDQEEFRYDM DEGNINSEEE 

ETRQSDLQD
Length:309
Mass (Da):35,124
Last modified:March 1, 2002 - v1
<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:i09A20A766D5A6AB8
GO
Isoform 2 (identifier: Q8WYR4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     19-56: Missing.

Show »
Length:271
Mass (Da):30,847
Checksum:i1598BDA8F93E7646
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070564103G → D in CILD24. 1 PublicationCorresponds to variant dbSNP:rs587777060EnsemblClinVar.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_05574319 – 56Missing in isoform 2. CuratedAdd BLAST38

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
AB006536 mRNA Translation: BAB83694.1
AB041016 mRNA Translation: BAB92995.1
AK314746 mRNA Translation: BAG37286.1
AP001624 Genomic DNA No translation available.
AP001625 Genomic DNA No translation available.
CH471079 Genomic DNA Translation: EAX09557.1
BC101519 mRNA Translation: AAI01520.1
BC113367 mRNA Translation: AAI13368.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS13688.1 [Q8WYR4-1]
CCDS68210.1 [Q8WYR4-2]

NCBI Reference Sequences

More...RefSeqi		NP_001273435.1, NM_001286506.1 [Q8WYR4-2]
NP_543136.1, NM_080860.3 [Q8WYR4-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000291536; ENSP00000291536; ENSG00000160188 [Q8WYR4-1]
ENST00000398352; ENSP00000381395; ENSG00000160188 [Q8WYR4-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		89765

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:89765

UCSC genome browser

More...UCSCi		uc002zbg.4, human [Q8WYR4-1]

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
AB006536 mRNA Translation: BAB83694.1
AB041016 mRNA Translation: BAB92995.1
AK314746 mRNA Translation: BAG37286.1
AP001624 Genomic DNA No translation available.
AP001625 Genomic DNA No translation available.
CH471079 Genomic DNA Translation: EAX09557.1
BC101519 mRNA Translation: AAI01520.1
BC113367 mRNA Translation: AAI13368.1
CCDSiCCDS13688.1 [Q8WYR4-1]
CCDS68210.1 [Q8WYR4-2]
RefSeqiNP_001273435.1, NM_001286506.1 [Q8WYR4-2]
NP_543136.1, NM_080860.3 [Q8WYR4-1]

3D structure databases

SMRiQ8WYR4
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi124591, 6 interactors
IntActiQ8WYR4, 1 interactor
STRINGi9606.ENSP00000291536

PTM databases

iPTMnetiQ8WYR4
PhosphoSitePlusiQ8WYR4

Genetic variation databases

BioMutaiRSPH1
DMDMi21542279

Proteomic databases

jPOSTiQ8WYR4
MassIVEiQ8WYR4
PaxDbiQ8WYR4
PeptideAtlasiQ8WYR4
PRIDEiQ8WYR4
ProteomicsDBi2268
75197 [Q8WYR4-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		9520, 65 antibodies

The DNASU plasmid repository

More...DNASUi		89765

Genome annotation databases

EnsembliENST00000291536; ENSP00000291536; ENSG00000160188 [Q8WYR4-1]
ENST00000398352; ENSP00000381395; ENSG00000160188 [Q8WYR4-2]
GeneIDi89765
KEGGihsa:89765
UCSCiuc002zbg.4, human [Q8WYR4-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		89765
DisGeNETi89765

GeneCards: human genes, protein and diseases

More...GeneCardsi		RSPH1
GeneReviewsiRSPH1
HGNCiHGNC:12371, RSPH1
HPAiENSG00000160188, Tissue enhanced (brain, fallopian tube)
MalaCardsiRSPH1
MIMi609314, gene
615481, phenotype
neXtProtiNX_Q8WYR4
OpenTargetsiENSG00000160188
Orphaneti244, Primary ciliary dyskinesia
PharmGKBiPA162402177
VEuPathDBiHostDB:ENSG00000160188.9

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0231, Eukaryota
GeneTreeiENSGT00940000157240
HOGENOMiCLU_032017_2_0_1
InParanoidiQ8WYR4
OMAiTWVHGQQ
OrthoDBi1309439at2759
PhylomeDBiQ8WYR4
TreeFamiTF329346

Enzyme and pathway databases

PathwayCommonsiQ8WYR4

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		89765, 9 hits in 877 CRISPR screens

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		RSPH1

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

More...GenomeRNAii		89765
PharosiQ8WYR4, Tbio

Protein Ontology

More...PROi		PR:Q8WYR4
RNActiQ8WYR4, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000160188, Expressed in bronchial epithelial cell and 168 other tissues
GenevisibleiQ8WYR4, HS

Family and domain databases

InterProiView protein in InterPro
IPR003409, MORN
PfamiView protein in Pfam
PF02493, MORN, 7 hits
SMARTiView protein in SMART
SM00698, MORN, 5 hits

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

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 nameiRSPH1_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: Q8WYR4
Secondary accession number(s): A8MWV0, B2RBN9, Q3MJA1
<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: June 20, 2002
Last sequence update: March 1, 2002
Last modified: February 10, 2021
This is version 141 of the entry and version 1 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 variants curated from literature reports
    Index of human variants curated from literature reports
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Human chromosome 21
    Human chromosome 21: entries, gene names and cross-references to MIM
  4. Human entries with genetic variants
    List of human entries with genetic variants
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again