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Protein

Radial spoke head protein 9 homolog

Gene

RSPH9

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

Functioni

Probable component of the axonemal radial spoke head. Radial spokes are regularly spaced along cilia, sperm and flagella axonemes. They consist of a thin stalk, which is attached to a subfiber of the outer doublet microtubule, and a bulbous head, which is attached to the stalk and appears to interact with the projections from the central pair of microtubules.1 Publication

GO - Biological processi

  • axoneme assembly Source: BHF-UCL
  • cilium movement Source: BHF-UCL
  • cilium movement involved in cell motility Source: GO_Central
  • motile cilium assembly Source: GO_Central

Names & Taxonomyi

Protein namesi
Recommended name:
Radial spoke head protein 9 homolog
Gene namesi
Name:RSPH9
Synonyms:C6orf206, MRPS18AL1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000172426.15
HGNCiHGNC:21057 RSPH9
MIMi612648 gene
neXtProtiNX_Q9H1X1

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, Cilium, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Ciliary dyskinesia, primary, 12 (CILD12)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; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit situs inversus, due to dysfunction of monocilia at the embryonic node and randomization of left-right body asymmetry. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.
See also OMIM:612650
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_055236268Missing in CILD12. 1 Publication1

Keywords - Diseasei

Ciliopathy, Disease mutation, Kartagener syndrome, Primary ciliary dyskinesia

Organism-specific databases

DisGeNETi221421
GeneReviewsiRSPH9
MalaCardsiRSPH9
MIMi612650 phenotype
OpenTargetsiENSG00000172426
Orphaneti244 Primary ciliary dyskinesia
PharmGKBiPA164725569

Polymorphism and mutation databases

BioMutaiRSPH9
DMDMi73917724

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000895611 – 276Radial spoke head protein 9 homologAdd BLAST276

Proteomic databases

PeptideAtlasiQ9H1X1
PRIDEiQ9H1X1

PTM databases

iPTMnetiQ9H1X1
PhosphoSitePlusiQ9H1X1

Expressioni

Gene expression databases

BgeeiENSG00000172426
CleanExiHS_C6orf206
GenevisibleiQ9H1X1 HS

Organism-specific databases

HPAiHPA031703

Interactioni

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi128723, 15 interactors
IntActiQ9H1X1, 3 interactors

Structurei

3D structure databases

ProteinModelPortaliQ9H1X1
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the flagellar radial spoke RSP9 family.Curated

Phylogenomic databases

GeneTreeiENSGT00390000018686
HOGENOMiHOG000258906
InParanoidiQ9H1X1
KOiK19757
OMAiEHDIPKG
OrthoDBiEOG091G0K4N
PhylomeDBiQ9H1X1
TreeFamiTF323644

Family and domain databases

InterProiView protein in InterPro
IPR006802 Radial_spoke
PfamiView protein in Pfam
PF04712 Radial_spoke, 1 hit

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q9H1X1-1) [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
MDADSLLLSL ELASGSGQGL SPDRRASLLT SLMLVKRDYR YDRVLFWGRI
60 70 80 90 100
LGLVADYYIA QGLSEDQLAP RKTLYSLNCT EWSLLPPATE EMVAQSSVVK
110 120 130 140 150
GRFMGDPSYE YEHTELQKVN EGEKVFEEEI VVQIKEETRL VSVIDQIDKA
160 170 180 190 200
VAIIPRGALF KTPFGPTHVN RTFEGLSLSE AKKLSSYFHF REPVELKNKT
210 220 230 240 250
LLEKADLDPS LDFMDSLEHD IPKGSWSIQM ERGNALVVLR SLLWPGLTFY
260 270
HAPRTKNYGY VYVGTGEKNM DLPFML
Length:276
Mass (Da):31,292
Last modified:March 1, 2001 - v1
Checksum:i3C158E7994CF84C5
GO
Isoform 2 (identifier: Q9H1X1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     132-146: Missing.
     226-276: WSIQMERGNA...EKNMDLPFML → EAVVQGDFTW...EPAWMFLNRV

Note: No experimental confirmation available.
Show »
Length:306
Mass (Da):34,430
Checksum:i349031BB3EC6D7D1
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_050815261V → I1 PublicationCorresponds to variant dbSNP:rs16896629EnsemblClinVar.1
Natural variantiVAR_055236268Missing in CILD12. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_042934132 – 146Missing in isoform 2. 1 PublicationAdd BLAST15
Alternative sequenceiVSP_042935226 – 276WSIQM…LPFML → EAVVQGDFTWLLSRCGFGWP CSWDSCSVSMRVLEHPDGEG QCPGGAAQPALAGPHLLPCS PHQELWLRLRGHWREEHGLA LHAIEWEPAWMFLNRV in isoform 2. 1 PublicationAdd BLAST51

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK055407 mRNA Translation: BAB70918.1
AK291399 mRNA Translation: BAF84088.1
AL136131 Genomic DNA No translation available.
CH471081 Genomic DNA Translation: EAX04222.1
BC029519 mRNA Translation: AAH29519.1
CCDSiCCDS4905.1 [Q9H1X1-1]
CCDS55005.1 [Q9H1X1-2]
RefSeqiNP_001180270.1, NM_001193341.1 [Q9H1X1-2]
NP_689945.2, NM_152732.4 [Q9H1X1-1]
UniGeneiHs.534585

Genome annotation databases

EnsembliENST00000372163; ENSP00000361236; ENSG00000172426 [Q9H1X1-1]
ENST00000372165; ENSP00000361238; ENSG00000172426 [Q9H1X1-2]
GeneIDi221421
KEGGihsa:221421
UCSCiuc003ovw.3 human [Q9H1X1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiRSPH9_HUMAN
AccessioniPrimary (citable) accession number: Q9H1X1
Secondary accession number(s): A8K5T4, Q96NH9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 30, 2005
Last sequence update: March 1, 2001
Last modified: May 23, 2018
This is version 121 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

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