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Protein

Radial spoke head protein 3 homolog

Gene

RSPH3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Functions as a protein kinase A-anchoring protein that scaffolds the cAMP-dependent protein kinase holoenzyme. May serve as a point of convergence for MAPK and PKA signaling in cilia.1 Publication

Names & Taxonomyi

Protein namesi
Recommended name:
Radial spoke head protein 3 homolog
Alternative name(s):
A-kinase anchor protein RSPH3
Radial spoke head-like protein 2
Gene namesi
Name:RSPH3
Synonyms:RSHL2, RSP3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:21054. RSPH3.

Pathology & Biotechi

Involvement in diseasei

Ciliary dyskinesia, primary, 32 (CILD32)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
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.
See also OMIM:616481

Keywords - Diseasei

Ciliopathy, Primary ciliary dyskinesia

Organism-specific databases

DisGeNETi83861.
MIMi616481. phenotype.
OpenTargetsiENSG00000130363.
PharmGKBiPA162402248.

Polymorphism and mutation databases

BioMutaiRSPH3.
DMDMi74750415.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003137411 – 560Radial spoke head protein 3 homologAdd BLAST560

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei286Phosphothreonine; by MAPK11 Publication1

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ86UC2.
PeptideAtlasiQ86UC2.
PRIDEiQ86UC2.

PTM databases

iPTMnetiQ86UC2.
PhosphoSitePlusiQ86UC2.

Expressioni

Gene expression databases

BgeeiENSG00000130363.
CleanExiHS_RSPH3.
ExpressionAtlasiQ86UC2. baseline and differential.
GenevisibleiQ86UC2. HS.

Organism-specific databases

HPAiHPA039109.
HPA040230.

Interactioni

Subunit structurei

Interacts with phosphorylated MAPK1. Interacts with MEK1. Interacts with PKA regulatory subunits PRKAR1A and PRKAR1B.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
ROPN1LQ96C745EBI-6873025,EBI-9033237

Protein-protein interaction databases

BioGridi123776. 3 interactors.
IntActiQ86UC2. 4 interactors.
MINTiMINT-1209207.
STRINGi9606.ENSP00000252655.

Structurei

3D structure databases

ProteinModelPortaliQ86UC2.
SMRiQ86UC2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili215 – 239Sequence analysisAdd BLAST25
Coiled coili331 – 385Sequence analysisAdd BLAST55

Sequence similaritiesi

Belongs to the flagellar radial spoke RSP3 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IJ85. Eukaryota.
ENOG410ZPSP. LUCA.
GeneTreeiENSGT00390000004172.
HOGENOMiHOG000259276.
HOVERGENiHBG067489.
InParanoidiQ86UC2.
OMAiWEIVHKH.
OrthoDBiEOG091G0DQH.
PhylomeDBiQ86UC2.
TreeFamiTF324184.

Family and domain databases

InterProiIPR009290. Radial_spoke_3.
[Graphical view]
PANTHERiPTHR21648:SF0. PTHR21648:SF0. 1 hit.
PfamiPF06098. Radial_spoke_3. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q86UC2-1) [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
MTVKPAKAAS LARNLAKRRR TYLGGAAGRS QEPEVPCAAV LPGKPGDRNC
60 70 80 90 100
PEFPPPDRTL GCWATDAAPA AGLCGAGSEP SIAPTSCAGN LPSRPPPLLS
110 120 130 140 150
PLLASRNPCP WHYLHLSGSH NTLAPTCFKA KLHRKRGSQP PDMASALTDR
160 170 180 190 200
TSRAPSTYTY TSRPRALPCQ RSRYRDSLTQ PDEEPMHYGN IMYDRRVIRG
210 220 230 240 250
NTYALQTGPL LGRPDSLELQ RQREARKRAL ARKQAQEQLR PQTPEPVEGR
260 270 280 290 300
KHVDVQTELY LEEIADRIIE VDMECQTDAF LDRPPTPLFI PAKTGKDVAT
310 320 330 340 350
QILEGELFDF DLEVKPVLEV LVGKTIEQSL LEVMEEEELA NLRASQREYE
360 370 380 390 400
ELRNSERAEV QRLEEQERRH REEKERRKKQ QWEIMHKHNE TSQKIAARAF
410 420 430 440 450
AQRYLADLLP SVFGSLRDSG YFYDPIERDI EIGFLPWLMN EVEKTMEYSM
460 470 480 490 500
VGRTVLDMLI REVVEKRLCM YEHGEDTHQS PEPEDEPGGP GAMTESLEAS
510 520 530 540 550
EFLEQSMSQT RELLLDGGYL QRTTYDRRSS QERKFMEERE LLGQDEETAM
560
RKSLGEEELS
Length:560
Mass (Da):63,687
Last modified:June 1, 2003 - v1
Checksum:iEEAC4B64D1099019
GO
Isoform 2 (identifier: Q86UC2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     212-307: Missing.

Note: No experimental confirmation available.
Show »
Length:464
Mass (Da):52,686
Checksum:iEB69C3CDC21F115D
GO

Sequence cautioni

The sequence AAK26432 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAB71544 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAI19235 differs from that shown. Reason: Erroneous initiation.Curated
The sequence CAI19236 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti99L → S in BAB71615 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_037720201N → S.Corresponds to variant rs16889320dbSNPEnsembl.1
Natural variantiVAR_037721213R → Q.Corresponds to variant rs34582178dbSNPEnsembl.1
Natural variantiVAR_037722398R → Q.Corresponds to variant rs10455840dbSNPEnsembl.1
Natural variantiVAR_037723439M → T.Corresponds to variant rs768994dbSNPEnsembl.1
Natural variantiVAR_037724484E → K.Corresponds to variant rs12204826dbSNPEnsembl.1
Natural variantiVAR_037725518G → D.Corresponds to variant rs3756987dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_030128212 – 307Missing in isoform 2. 1 PublicationAdd BLAST96

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK057655 mRNA. Translation: BAB71544.1. Different initiation.
AK057931 mRNA. Translation: BAB71615.1.
AL035530 Genomic DNA. Translation: CAI19235.1. Different initiation.
AL035530 Genomic DNA. Translation: CAI19236.1. Different initiation.
CH471051 Genomic DNA. Translation: EAW47643.1.
BC050604 mRNA. Translation: AAH50604.1.
AF353618 mRNA. Translation: AAK26432.1. Different initiation.
CCDSiCCDS5260.1. [Q86UC2-1]
RefSeqiNP_114130.3. NM_031924.4. [Q86UC2-1]
XP_005267210.1. XM_005267153.4. [Q86UC2-2]
UniGeneiHs.154628.

Genome annotation databases

EnsembliENST00000252655; ENSP00000252655; ENSG00000130363. [Q86UC2-1]
GeneIDi83861.
KEGGihsa:83861.
UCSCiuc003qrx.4. human. [Q86UC2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK057655 mRNA. Translation: BAB71544.1. Different initiation.
AK057931 mRNA. Translation: BAB71615.1.
AL035530 Genomic DNA. Translation: CAI19235.1. Different initiation.
AL035530 Genomic DNA. Translation: CAI19236.1. Different initiation.
CH471051 Genomic DNA. Translation: EAW47643.1.
BC050604 mRNA. Translation: AAH50604.1.
AF353618 mRNA. Translation: AAK26432.1. Different initiation.
CCDSiCCDS5260.1. [Q86UC2-1]
RefSeqiNP_114130.3. NM_031924.4. [Q86UC2-1]
XP_005267210.1. XM_005267153.4. [Q86UC2-2]
UniGeneiHs.154628.

3D structure databases

ProteinModelPortaliQ86UC2.
SMRiQ86UC2.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123776. 3 interactors.
IntActiQ86UC2. 4 interactors.
MINTiMINT-1209207.
STRINGi9606.ENSP00000252655.

PTM databases

iPTMnetiQ86UC2.
PhosphoSitePlusiQ86UC2.

Polymorphism and mutation databases

BioMutaiRSPH3.
DMDMi74750415.

Proteomic databases

PaxDbiQ86UC2.
PeptideAtlasiQ86UC2.
PRIDEiQ86UC2.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000252655; ENSP00000252655; ENSG00000130363. [Q86UC2-1]
GeneIDi83861.
KEGGihsa:83861.
UCSCiuc003qrx.4. human. [Q86UC2-1]

Organism-specific databases

CTDi83861.
DisGeNETi83861.
GeneCardsiRSPH3.
HGNCiHGNC:21054. RSPH3.
HPAiHPA039109.
HPA040230.
MIMi615876. gene.
616481. phenotype.
neXtProtiNX_Q86UC2.
OpenTargetsiENSG00000130363.
PharmGKBiPA162402248.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IJ85. Eukaryota.
ENOG410ZPSP. LUCA.
GeneTreeiENSGT00390000004172.
HOGENOMiHOG000259276.
HOVERGENiHBG067489.
InParanoidiQ86UC2.
OMAiWEIVHKH.
OrthoDBiEOG091G0DQH.
PhylomeDBiQ86UC2.
TreeFamiTF324184.

Miscellaneous databases

GeneWikiiRSPH3.
GenomeRNAii83861.
PROiQ86UC2.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000130363.
CleanExiHS_RSPH3.
ExpressionAtlasiQ86UC2. baseline and differential.
GenevisibleiQ86UC2. HS.

Family and domain databases

InterProiIPR009290. Radial_spoke_3.
[Graphical view]
PANTHERiPTHR21648:SF0. PTHR21648:SF0. 1 hit.
PfamiPF06098. Radial_spoke_3. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiRSPH3_HUMAN
AccessioniPrimary (citable) accession number: Q86UC2
Secondary accession number(s): Q96LQ5, Q96LX2, Q9BX75
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: June 1, 2003
Last modified: November 30, 2016
This is version 107 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 6
    Human chromosome 6: 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.