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Protein

Radial spoke head 1 homolog

Gene

RSPH1

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

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: Ensembl

Keywordsi

Biological processMeiosis

Names & Taxonomyi

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
Gene namesi
Name:RSPH1
Synonyms:TSA2, TSGA2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 21

Organism-specific databases

EuPathDBiHostDB:ENSG00000160188.9
HGNCiHGNC:12371 RSPH1
MIMi609314 gene
neXtProtiNX_Q8WYR4

Subcellular locationi

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

Keywords - Cellular componenti

Cell projection, Cytoplasm

Pathology & 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.
See also OMIM:615481
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070564103G → D in CILD24. 1 PublicationCorresponds to variant dbSNP:rs587777060EnsemblClinVar.1

Keywords - Diseasei

Ciliopathy, Disease mutation, Primary ciliary dyskinesia

Organism-specific databases

DisGeNETi89765
MalaCardsiRSPH1
MIMi615481 phenotype
OpenTargetsiENSG00000160188
Orphaneti244 Primary ciliary dyskinesia
PharmGKBiPA162402177

Polymorphism and mutation databases

BioMutaiRSPH1
DMDMi21542279

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000656621 – 309Radial spoke head 1 homologAdd BLAST309

Proteomic databases

PaxDbiQ8WYR4
PeptideAtlasiQ8WYR4
PRIDEiQ8WYR4
ProteomicsDBi75197

PTM databases

iPTMnetiQ8WYR4
PhosphoSitePlusiQ8WYR4

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000160188 Expressed in 149 organ(s), highest expression level in bronchial epithelial cell
CleanExiHS_RSPH1
GenevisibleiQ8WYR4 HS

Organism-specific databases

HPAiHPA016816
HPA017382

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
MORN3Q6PF185EBI-10253582,EBI-9675802

Protein-protein interaction databases

BioGridi124591, 6 interactors
IntActiQ8WYR4, 1 interactor
STRINGi9606.ENSP00000291536

Structurei

3D structure databases

ProteinModelPortaliQ8WYR4
SMRiQ8WYR4
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
Compositional biasi195 – 201Poly-Glu7
Compositional biasi298 – 301Poly-Glu4

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG0231 Eukaryota
COG4642 LUCA
GeneTreeiENSGT00730000110297
HOGENOMiHOG000007234
HOVERGENiHBG056736
InParanoidiQ8WYR4
KOiK19755
OMAiYEGNYEH
OrthoDBiEOG091G0IUR
PhylomeDBiQ8WYR4
TreeFamiTF329346

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

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q8WYR4-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
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
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.

Note: No experimental confirmation available. Gene prediction based on EST data.
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
Alternative sequenceiVSP_05574319 – 56Missing in isoform 2. CuratedAdd BLAST38

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]
UniGeneiHs.661069

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing

Similar 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
CCDSiCCDS13688.1 [Q8WYR4-1]
CCDS68210.1 [Q8WYR4-2]
RefSeqiNP_001273435.1, NM_001286506.1 [Q8WYR4-2]
NP_543136.1, NM_080860.3 [Q8WYR4-1]
UniGeneiHs.661069

3D structure databases

ProteinModelPortaliQ8WYR4
SMRiQ8WYR4
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124591, 6 interactors
IntActiQ8WYR4, 1 interactor
STRINGi9606.ENSP00000291536

PTM databases

iPTMnetiQ8WYR4
PhosphoSitePlusiQ8WYR4

Polymorphism and mutation databases

BioMutaiRSPH1
DMDMi21542279

Proteomic databases

PaxDbiQ8WYR4
PeptideAtlasiQ8WYR4
PRIDEiQ8WYR4
ProteomicsDBi75197

Protocols and materials databases

DNASUi89765
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi89765
DisGeNETi89765
EuPathDBiHostDB:ENSG00000160188.9
GeneCardsiRSPH1
HGNCiHGNC:12371 RSPH1
HPAiHPA016816
HPA017382
MalaCardsiRSPH1
MIMi609314 gene
615481 phenotype
neXtProtiNX_Q8WYR4
OpenTargetsiENSG00000160188
Orphaneti244 Primary ciliary dyskinesia
PharmGKBiPA162402177
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0231 Eukaryota
COG4642 LUCA
GeneTreeiENSGT00730000110297
HOGENOMiHOG000007234
HOVERGENiHBG056736
InParanoidiQ8WYR4
KOiK19755
OMAiYEGNYEH
OrthoDBiEOG091G0IUR
PhylomeDBiQ8WYR4
TreeFamiTF329346

Miscellaneous databases

GeneWikiiRSPH1
GenomeRNAii89765
PROiPR:Q8WYR4
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000160188 Expressed in 149 organ(s), highest expression level in bronchial epithelial cell
CleanExiHS_RSPH1
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
ProtoNetiSearch...

Entry informationi

Entry nameiRSPH1_HUMAN
AccessioniPrimary (citable) accession number: Q8WYR4
Secondary accession number(s): A8MWV0, B2RBN9, Q3MJA1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 20, 2002
Last sequence update: March 1, 2002
Last modified: November 7, 2018
This is version 127 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 21
    Human chromosome 21: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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