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Protein

Radial spoke head protein 3 homolog

Gene

RSPH3

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

EuPathDBiHostDB:ENSG00000130363.11
HGNCiHGNC:21054 RSPH3
MIMi615876 gene
neXtProtiNX_Q86UC2

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, Cytoskeleton

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
MalaCardsiRSPH3
MIMi616481 phenotype
OpenTargetsiENSG00000130363
Orphaneti244 Primary ciliary dyskinesia
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
ProteomicsDBi69797
69798 [Q86UC2-2]

PTM databases

iPTMnetiQ86UC2
PhosphoSitePlusiQ86UC2

Expressioni

Gene expression databases

BgeeiENSG00000130363 Expressed in 191 organ(s), highest expression level in bronchial epithelial cell
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, 8 interactors
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
OMAiVHKHNET
OrthoDBiEOG091G0DQH
PhylomeDBiQ86UC2
TreeFamiTF324184

Family and domain databases

InterProiView protein in InterPro
IPR009290 Radial_spoke_3
PANTHERiPTHR21648 PTHR21648, 1 hit
PfamiView protein in Pfam
PF06098 Radial_spoke_3, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

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

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0C4DG29A0A0C4DG29_HUMAN
Radial spoke head protein 3 homolog
RSPH3
322Annotation score:
A0A0C4DFU3A0A0C4DFU3_HUMAN
Radial spoke head protein 3 homolog
RSPH3
418Annotation score:

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

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 dbSNP:rs16889320Ensembl.1
Natural variantiVAR_037721213R → Q. Corresponds to variant dbSNP:rs34582178Ensembl.1
Natural variantiVAR_037722398R → Q. Corresponds to variant dbSNP:rs10455840EnsemblClinVar.1
Natural variantiVAR_037723439M → T. Corresponds to variant dbSNP:rs768994Ensembl.1
Natural variantiVAR_037724484E → K. Corresponds to variant dbSNP:rs12204826EnsemblClinVar.1
Natural variantiVAR_037725518G → D. Corresponds to variant dbSNP:rs3756987Ensembl.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 No translation available.
CH471051 Genomic DNA Translation: EAW47643.1
BC050604 mRNA Translation: AAH50604.1
AF353618 mRNA Translation: AAK26432.1 Different initiation.
CCDSiCCDS5260.1 [Q86UC2-1]
RefSeqiNP_001333347.1, NM_001346418.1 [Q86UC2-2]
NP_114130.3, NM_031924.5 [Q86UC2-1]
UniGeneiHs.154628
Hs.391527

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

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 No translation available.
CH471051 Genomic DNA Translation: EAW47643.1
BC050604 mRNA Translation: AAH50604.1
AF353618 mRNA Translation: AAK26432.1 Different initiation.
CCDSiCCDS5260.1 [Q86UC2-1]
RefSeqiNP_001333347.1, NM_001346418.1 [Q86UC2-2]
NP_114130.3, NM_031924.5 [Q86UC2-1]
UniGeneiHs.154628
Hs.391527

3D structure databases

ProteinModelPortaliQ86UC2
SMRiQ86UC2
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123776, 3 interactors
IntActiQ86UC2, 8 interactors
STRINGi9606.ENSP00000252655

PTM databases

iPTMnetiQ86UC2
PhosphoSitePlusiQ86UC2

Polymorphism and mutation databases

BioMutaiRSPH3
DMDMi74750415

Proteomic databases

PaxDbiQ86UC2
PeptideAtlasiQ86UC2
PRIDEiQ86UC2
ProteomicsDBi69797
69798 [Q86UC2-2]

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
EuPathDBiHostDB:ENSG00000130363.11
GeneCardsiRSPH3
HGNCiHGNC:21054 RSPH3
HPAiHPA039109
HPA040230
MalaCardsiRSPH3
MIMi615876 gene
616481 phenotype
neXtProtiNX_Q86UC2
OpenTargetsiENSG00000130363
Orphaneti244 Primary ciliary dyskinesia
PharmGKBiPA162402248
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IJ85 Eukaryota
ENOG410ZPSP LUCA
GeneTreeiENSGT00390000004172
HOGENOMiHOG000259276
HOVERGENiHBG067489
InParanoidiQ86UC2
OMAiVHKHNET
OrthoDBiEOG091G0DQH
PhylomeDBiQ86UC2
TreeFamiTF324184

Miscellaneous databases

GeneWikiiRSPH3
GenomeRNAii83861
PROiPR:Q86UC2
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000130363 Expressed in 191 organ(s), highest expression level in bronchial epithelial cell
CleanExiHS_RSPH3
ExpressionAtlasiQ86UC2 baseline and differential
GenevisibleiQ86UC2 HS

Family and domain databases

InterProiView protein in InterPro
IPR009290 Radial_spoke_3
PANTHERiPTHR21648 PTHR21648, 1 hit
PfamiView protein in Pfam
PF06098 Radial_spoke_3, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiRSPH3_HUMAN
AccessioniPrimary (citable) accession number: Q86UC2
Secondary accession number(s): Q96LQ5, Q96LX2, Q9BX75
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: June 1, 2003
Last modified: November 7, 2018
This is version 120 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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