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Protein

Radial spoke head 1 homolog

Gene

RSPH1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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
Complete GO annotation...

Keywords - Biological processi

Meiosis

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

HGNCiHGNC:12371. RSPH1.

Subcellular locationi

GO - Cellular componenti

  • condensed nuclear chromosome Source: Ensembl
  • cytosol Source: UniProtKB
  • meiotic spindle Source: Ensembl
  • motile cilium Source: UniProtKB
  • nucleus Source: UniProtKB
  • outer dense fiber Source: Ensembl
Complete GO annotation...

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti103 – 1031G → D in CILD24. 1 Publication
Corresponds to variant rs587777060 [ dbSNP | Ensembl ].
VAR_070564

Keywords - Diseasei

Ciliopathy, Disease mutation, Primary ciliary dyskinesia

Organism-specific databases

MalaCardsiRSPH1.
MIMi615481. phenotype.
Orphaneti244. Primary ciliary dyskinesia.
PharmGKBiPA162402177.

Polymorphism and mutation databases

BioMutaiRSPH1.
DMDMi21542279.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 309309Radial spoke head 1 homologPRO_0000065662Add
BLAST

Proteomic databases

PaxDbiQ8WYR4.
PeptideAtlasiQ8WYR4.
PRIDEiQ8WYR4.

PTM databases

iPTMnetiQ8WYR4.
PhosphoSiteiQ8WYR4.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000160188.
CleanExiHS_RSPH1.
GenevisibleiQ8WYR4. HS.

Organism-specific databases

HPAiHPA016816.
HPA017382.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
MORN3Q6PF183EBI-10253582,EBI-9675802

Protein-protein interaction databases

BioGridi124591. 1 interaction.
IntActiQ8WYR4. 1 interaction.
STRINGi9606.ENSP00000291536.

Structurei

3D structure databases

ProteinModelPortaliQ8WYR4.
SMRiQ8WYR4. Positions 15-122.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati20 – 4324MORN 1Add
BLAST
Repeati44 – 6623MORN 2Add
BLAST
Repeati67 – 8923MORN 3Add
BLAST
Repeati90 – 11223MORN 4Add
BLAST
Repeati113 – 13523MORN 5Add
BLAST
Repeati159 – 18123MORN 6Add
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi195 – 2017Poly-Glu
Compositional biasi298 – 3014Poly-Glu

Sequence similaritiesi

Contains 6 MORN repeats.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

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

Family and domain databases

InterProiIPR003409. MORN.
[Graphical view]
PfamiPF02493. MORN. 7 hits.
[Graphical view]
SMARTiSM00698. MORN. 5 hits.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti103 – 1031G → D in CILD24. 1 Publication
Corresponds to variant rs587777060 [ dbSNP | Ensembl ].
VAR_070564

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei19 – 5638Missing in isoform 2. CuratedVSP_055743Add
BLAST

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

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. Positions 15-122.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124591. 1 interaction.
IntActiQ8WYR4. 1 interaction.
STRINGi9606.ENSP00000291536.

PTM databases

iPTMnetiQ8WYR4.
PhosphoSiteiQ8WYR4.

Polymorphism and mutation databases

BioMutaiRSPH1.
DMDMi21542279.

Proteomic databases

PaxDbiQ8WYR4.
PeptideAtlasiQ8WYR4.
PRIDEiQ8WYR4.

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.
GeneCardsiRSPH1.
HGNCiHGNC:12371. RSPH1.
HPAiHPA016816.
HPA017382.
MalaCardsiRSPH1.
MIMi609314. gene.
615481. phenotype.
neXtProtiNX_Q8WYR4.
Orphaneti244. Primary ciliary dyskinesia.
PharmGKBiPA162402177.
GenAtlasiSearch...

Phylogenomic databases

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

Miscellaneous databases

GeneWikiiRSPH1.
GenomeRNAii89765.
PROiQ8WYR4.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000160188.
CleanExiHS_RSPH1.
GenevisibleiQ8WYR4. HS.

Family and domain databases

InterProiIPR003409. MORN.
[Graphical view]
PfamiPF02493. MORN. 7 hits.
[Graphical view]
SMARTiSM00698. MORN. 5 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiRSPH1_HUMAN
AccessioniPrimary (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: September 7, 2016
This is version 115 of the entry and version 1 of the sequence. [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 chromosome 21
    Human chromosome 21: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.