UniProtKB - Q8WYR4 (RSPH1_HUMAN)
Protein
Radial spoke head 1 homolog
Gene
RSPH1
Organism
Homo sapiens (Human)
Status
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
GO - Biological processi
- axoneme assembly Source: UniProtKB
- meiotic cell cycle Source: UniProtKB-KW
- spermatid development Source: GO_Central
Keywordsi
Biological process | Meiosis |
Enzyme and pathway databases
PathwayCommonsi | Q8WYR4 |
Names & Taxonomyi
Protein namesi | Recommended name: Radial spoke head 1 homologAlternative name(s): Cancer/testis antigen 79 Short name: CT79 Male meiotic metaphase chromosome-associated acidic protein Meichroacidin Testis-specific gene A2 protein |
Gene namesi | Name:RSPH1 Synonyms:TSA2, TSGA2 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000160188.9 |
HGNCi | HGNC:12371, RSPH1 |
MIMi | 609314, gene |
neXtProti | NX_Q8WYR4 |
Subcellular locationi
Cytoskeleton
- meiotic spindle Source: Ensembl
- outer dense fiber Source: Ensembl
Cytosol
- cytosol Source: UniProtKB
Nucleus
- condensed nuclear chromosome Source: Ensembl
- nucleus Source: UniProtKB
Other locations
- motile cilium Source: UniProtKB
Keywords - Cellular componenti
Cell projection, CytoplasmPathology & Biotechi
Involvement in diseasei
Ciliary dyskinesia, primary, 24 (CILD24)2 Publications
The disease is caused by mutations 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 OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_070564 | 103 | G → D in CILD24. 1 PublicationCorresponds to variant dbSNP:rs587777060EnsemblClinVar. | 1 |
Keywords - Diseasei
Ciliopathy, Disease mutation, Primary ciliary dyskinesiaOrganism-specific databases
DisGeNETi | 89765 |
GeneReviewsi | RSPH1 |
MalaCardsi | RSPH1 |
MIMi | 615481, phenotype |
OpenTargetsi | ENSG00000160188 |
Orphaneti | 244, Primary ciliary dyskinesia |
PharmGKBi | PA162402177 |
Miscellaneous databases
Pharosi | Q8WYR4, Tbio |
Polymorphism and mutation databases
BioMutai | RSPH1 |
DMDMi | 21542279 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000065662 | 1 – 309 | Radial spoke head 1 homologAdd BLAST | 309 |
Proteomic databases
jPOSTi | Q8WYR4 |
MassIVEi | Q8WYR4 |
PaxDbi | Q8WYR4 |
PeptideAtlasi | Q8WYR4 |
PRIDEi | Q8WYR4 |
ProteomicsDBi | 2268 75197 [Q8WYR4-1] |
PTM databases
iPTMneti | Q8WYR4 |
PhosphoSitePlusi | Q8WYR4 |
Expressioni
Tissue specificityi
Expressed in trachea, lungs, airway brushings, and testes.1 Publication
Gene expression databases
Bgeei | ENSG00000160188, Expressed in bronchial epithelial cell and 168 other tissues |
Genevisiblei | Q8WYR4, HS |
Organism-specific databases
HPAi | ENSG00000160188, Tissue enhanced (brain, fallopian tube) |
Interactioni
Subunit structurei
Interacts with RSPH6A.
By similarityBinary interactionsi
Q8WYR4
With | #Exp. | IntAct |
---|---|---|
MORN3 [Q6PF18] | 7 | EBI-10253582,EBI-9675802 |
Protein-protein interaction databases
BioGRIDi | 124591, 6 interactors |
IntActi | Q8WYR4, 1 interactor |
STRINGi | 9606.ENSP00000291536 |
Miscellaneous databases
RNActi | Q8WYR4, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 20 – 43 | MORN 1Add BLAST | 24 | |
Repeati | 44 – 66 | MORN 2Add BLAST | 23 | |
Repeati | 67 – 89 | MORN 3Add BLAST | 23 | |
Repeati | 90 – 112 | MORN 4Add BLAST | 23 | |
Repeati | 113 – 135 | MORN 5Add BLAST | 23 | |
Repeati | 159 – 181 | MORN 6Add BLAST | 23 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 195 – 201 | Poly-Glu | 7 | |
Compositional biasi | 298 – 301 | Poly-Glu | 4 |
Keywords - Domaini
RepeatPhylogenomic databases
eggNOGi | KOG0231, Eukaryota |
GeneTreei | ENSGT00940000157240 |
HOGENOMi | CLU_032017_2_0_1 |
InParanoidi | Q8WYR4 |
OMAi | TWVHGQQ |
OrthoDBi | 1309439at2759 |
PhylomeDBi | Q8WYR4 |
TreeFami | TF329346 |
Family and domain databases
InterProi | View protein in InterPro IPR003409, MORN |
Pfami | View protein in Pfam PF02493, MORN, 7 hits |
SMARTi | View protein in SMART SM00698, MORN, 5 hits |
s (2)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketIsoform 1 (identifier: Q8WYR4-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
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
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_070564 | 103 | G → D in CILD24. 1 PublicationCorresponds to variant dbSNP:rs587777060EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_055743 | 19 – 56 | Missing in isoform 2. CuratedAdd BLAST | 38 |
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 |
CCDSi | CCDS13688.1 [Q8WYR4-1] CCDS68210.1 [Q8WYR4-2] |
RefSeqi | NP_001273435.1, NM_001286506.1 [Q8WYR4-2] NP_543136.1, NM_080860.3 [Q8WYR4-1] |
Genome annotation databases
Ensembli | ENST00000291536; ENSP00000291536; ENSG00000160188 [Q8WYR4-1] ENST00000398352; ENSP00000381395; ENSG00000160188 [Q8WYR4-2] |
GeneIDi | 89765 |
KEGGi | hsa:89765 |
UCSCi | uc002zbg.4, human [Q8WYR4-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
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 |
CCDSi | CCDS13688.1 [Q8WYR4-1] CCDS68210.1 [Q8WYR4-2] |
RefSeqi | NP_001273435.1, NM_001286506.1 [Q8WYR4-2] NP_543136.1, NM_080860.3 [Q8WYR4-1] |
3D structure databases
SMRi | Q8WYR4 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 124591, 6 interactors |
IntActi | Q8WYR4, 1 interactor |
STRINGi | 9606.ENSP00000291536 |
PTM databases
iPTMneti | Q8WYR4 |
PhosphoSitePlusi | Q8WYR4 |
Polymorphism and mutation databases
BioMutai | RSPH1 |
DMDMi | 21542279 |
Proteomic databases
jPOSTi | Q8WYR4 |
MassIVEi | Q8WYR4 |
PaxDbi | Q8WYR4 |
PeptideAtlasi | Q8WYR4 |
PRIDEi | Q8WYR4 |
ProteomicsDBi | 2268 75197 [Q8WYR4-1] |
Protocols and materials databases
Antibodypediai | 9520, 65 antibodies |
DNASUi | 89765 |
Genome annotation databases
Ensembli | ENST00000291536; ENSP00000291536; ENSG00000160188 [Q8WYR4-1] ENST00000398352; ENSP00000381395; ENSG00000160188 [Q8WYR4-2] |
GeneIDi | 89765 |
KEGGi | hsa:89765 |
UCSCi | uc002zbg.4, human [Q8WYR4-1] |
Organism-specific databases
CTDi | 89765 |
DisGeNETi | 89765 |
EuPathDBi | HostDB:ENSG00000160188.9 |
GeneCardsi | RSPH1 |
GeneReviewsi | RSPH1 |
HGNCi | HGNC:12371, RSPH1 |
HPAi | ENSG00000160188, Tissue enhanced (brain, fallopian tube) |
MalaCardsi | RSPH1 |
MIMi | 609314, gene 615481, phenotype |
neXtProti | NX_Q8WYR4 |
OpenTargetsi | ENSG00000160188 |
Orphaneti | 244, Primary ciliary dyskinesia |
PharmGKBi | PA162402177 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0231, Eukaryota |
GeneTreei | ENSGT00940000157240 |
HOGENOMi | CLU_032017_2_0_1 |
InParanoidi | Q8WYR4 |
OMAi | TWVHGQQ |
OrthoDBi | 1309439at2759 |
PhylomeDBi | Q8WYR4 |
TreeFami | TF329346 |
Enzyme and pathway databases
PathwayCommonsi | Q8WYR4 |
Miscellaneous databases
BioGRID-ORCSi | 89765, 8 hits in 846 CRISPR screens |
GeneWikii | RSPH1 |
GenomeRNAii | 89765 |
Pharosi | Q8WYR4, Tbio |
PROi | PR:Q8WYR4 |
RNActi | Q8WYR4, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000160188, Expressed in bronchial epithelial cell and 168 other tissues |
Genevisiblei | Q8WYR4, HS |
Family and domain databases
InterProi | View protein in InterPro IPR003409, MORN |
Pfami | View protein in Pfam PF02493, MORN, 7 hits |
SMARTi | View protein in SMART SM00698, MORN, 5 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | RSPH1_HUMAN | |
Accessioni | Q8WYR4Primary (citable) accession number: Q8WYR4 Secondary accession number(s): A8MWV0, B2RBN9, Q3MJA1 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | June 20, 2002 |
Last sequence update: | March 1, 2002 | |
Last modified: | December 2, 2020 | |
This is version 140 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - Human chromosome 21
Human chromosome 21: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations