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Q5TD94 (RSH4A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 78. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Radial spoke head protein 4 homolog A
Alternative name(s):
Radial spoke head-like protein 3
Gene names
Name:RSPH4A
Synonyms:RSHL3
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length716 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.4

Subcellular location

Cytoplasmcytoskeletoncilium axoneme Probable. Cell projectioncilium. Note: Radial spoke Probable. Ref.4 Ref.6

Tissue specificity

Expressed in trachea, lungs, and testes. Very strong expression is detected in nasal brushings. Ref.6

Involvement in disease

Ciliary dyskinesia, primary, 11 (CILD11) [MIM:612649]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.4 Ref.5

Sequence similarities

Belongs to the flagellar radial spoke RSP4/6 family.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q5TD94-1)

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.
Note: Gene prediction based on EST data.
Isoform 2 (identifier: Q5TD94-2)

The sequence of this isoform differs from the canonical sequence as follows:
     308-554: Missing.
Note: Gene prediction based on EST data.
Isoform 3 (identifier: Q5TD94-3)

The sequence of this isoform differs from the canonical sequence as follows:
     555-600: GRCNWFNSIQ...LLTPISEDLE → RFRIYPPGQH...PMAKSLKIST
     601-716: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 716716Radial spoke head protein 4 homolog A
PRO_0000313738

Regions

Compositional bias370 – 40536Glu-rich
Compositional bias507 – 58680Glu-rich

Natural variations

Alternative sequence308 – 554247Missing in isoform 2.
VSP_030125
Alternative sequence555 – 60046GRCNW…SEDLE → RFRIYPPGQHGYPQISFHNM LLQSFNPTFGLEHMPSPMAK SLKIST in isoform 3.
VSP_030126
Alternative sequence601 – 716116Missing in isoform 3.
VSP_030127
Natural variant871P → S in CILD11. Ref.4
VAR_055235
Natural variant1491T → S.
Corresponds to variant rs13213314 [ dbSNP | Ensembl ].
VAR_037715
Natural variant4641G → E in CILD11; unknown pathological significance.
VAR_070565
Natural variant5561R → H.
Corresponds to variant rs6927567 [ dbSNP | Ensembl ].
VAR_037716
Natural variant5891L → P. Ref.1
Corresponds to variant rs784133 [ dbSNP | Ensembl ].
VAR_037717
Natural variant6271N → H.
Corresponds to variant rs9488991 [ dbSNP | Ensembl ].
VAR_037718
Natural variant7001A → V.
Corresponds to variant rs9488992 [ dbSNP | Ensembl ].
VAR_037719

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified December 21, 2004. Version 1.
Checksum: A7951A85FBE6F6E7

FASTA71680,733
        10         20         30         40         50         60 
MEDSTSPKQE KENQEELGET RRPWEGKTAA SPQYSEPESS EPLEAKQGPE TGRQSRSSRP 

        70         80         90        100        110        120 
WSPQSRAKTP LGGPAGPETS SPAPVSPREP SSSPSPLAPA RQDLAAPPQS DRTTSVIPEA 

       130        140        150        160        170        180 
GTPYPDPLEQ SSDKRESTPH HTSQSEGNTF QQSQQPKPHL CGRRDVSYNN AKQKELRFDV 

       190        200        210        220        230        240 
FQEEDSNSDY DLQQPAPGGS EVAPSMLEIT IQNAKAYLLK TSSNSGFNLY DHLSNMLTKI 

       250        260        270        280        290        300 
LNERPENAVD IFENISQDVK MAHFSKKFDA LQNENELLPT YEIAEKQKAL FLQGHLEGVD 

       310        320        330        340        350        360 
QELEDEIAEN ALPNVMESAF YFEQAGVGLG TDETYRIFLA LKQLTDTHPI QRCRFWGKIL 

       370        380        390        400        410        420 
GLEMNYIVAE VEFREGEDEE EVEEEDVAEE RDNGESEAHE DEEDELPKSF YKAPQAIPKE 

       430        440        450        460        470        480 
ESRTGANKYV YFVCNEPGRP WVKLPPVIPA QIVIARKIKK FFTGRLDAPI ISYPPFPGNE 

       490        500        510        520        530        540 
SNYLRAQIAR ISAGTHVSPL GFYQFGEEEG EEEEEAEGGR NSFEENPDFE GIQVIDLVES 

       550        560        570        580        590        600 
LSNWVHHVQH ILSQGRCNWF NSIQKNEEEE EEEDEEKDDS DYIEQEVGLP LLTPISEDLE 

       610        620        630        640        650        660 
IQNIPPWTTR LSSNLIPQYA IAVLQSNLWP GAYAFSNGKK FENFYIGWGH KYSPDNYTPP 

       670        680        690        700        710 
VPPPVYQEYP SGPEITEMDD PSVEEEQAFR AAQEAVLLAA ENEESEEDED EEDDYD 

« Hide

Isoform 2 [UniParc].

Checksum: 1181D047713591D4
Show »

FASTA46952,639
Isoform 3 [UniParc].

Checksum: 526B72E99DBBEF5D
Show »

FASTA60067,406

References

« Hide 'large scale' references
[1]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT PRO-589.
Tissue: Brain.
[2]"The DNA sequence and analysis of human chromosome 6."
Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. expand/collapse author list , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
[4]"Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities."
Castleman V.H., Romio L., Chodhari R., Hirst R.A., de Castro S.C.P., Parker K.A., Ybot-Gonzalez P., Emes R.D., Wilson S.W., Wallis C., Johnson C.A., Herrera R.J., Rutman A., Dixon M., Shoemark A., Bush A., Hogg C., Gardiner R.M. expand/collapse author list , Reish O., Greene N.D.E., O'Callaghan C., Purton S., Chung E.M.K., Mitchison H.M.
Am. J. Hum. Genet. 84:197-209(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION, FUNCTION, SUBCELLULAR LOCATION, VARIANT CILD11 SER-87.
[5]"Founder mutation in RSPH4A identified in patients of Hispanic descent with Primary Ciliary Dyskinesia."
Daniels M.L., Leigh M.W., Davis S.D., Armstrong M.C., Carson J.L., Hazucha M., Dell S.D., Eriksson M., Collins F.S., Knowles M.R., Zariwala M.A.
Hum. Mutat. 34:1352-1356(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN CILD11.
[6]"Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects."
Kott E., Legendre M., Copin B., Papon J.F., Dastot-Le Moal F., Montantin G., Duquesnoy P., Piterboth W., Amram D., Bassinet L., Beucher J., Beydon N., Deneuville E., Houdouin V., Journel H., Just J., Nathan N., Tamalet A. expand/collapse author list , Collot N., Jeanson L., Le Gouez M., Vallette B., Vojtek A.M., Epaud R., Coste A., Clement A., Housset B., Louis B., Escudier E., Amselem S.
Am. J. Hum. Genet. 93:561-570(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: TISSUE SPECIFICITY, SUBCELLULAR LOCATION.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK299754 mRNA. Translation: BAG61643.1.
AL132795 Genomic DNA. Translation: CAI20496.1.
AL132795 Genomic DNA. Translation: CAI20497.1.
BC106949 mRNA. Translation: AAI06950.1.
RefSeqNP_001010892.1. NM_001010892.2.
NP_001155136.1. NM_001161664.1.
UniGeneHs.160380.
Hs.625134.

3D structure databases

ProteinModelPortalQ5TD94.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000229554.

PTM databases

PhosphoSiteQ5TD94.

Polymorphism databases

DMDM74746178.

Proteomic databases

PaxDbQ5TD94.
PRIDEQ5TD94.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000229554; ENSP00000229554; ENSG00000111834. [Q5TD94-1]
ENST00000368580; ENSP00000357569; ENSG00000111834. [Q5TD94-2]
ENST00000368581; ENSP00000357570; ENSG00000111834. [Q5TD94-3]
GeneID345895.
KEGGhsa:345895.
UCSCuc003pxe.2. human. [Q5TD94-1]
uc010kee.2. human. [Q5TD94-3]

Organism-specific databases

CTD345895.
GeneCardsGC06P116941.
HGNCHGNC:21558. RSPH4A.
HPAHPA031196.
HPA031197.
HPA031198.
MIM612647. gene.
612649. phenotype.
neXtProtNX_Q5TD94.
Orphanet244. Primary ciliary dyskinesia.
PharmGKBPA164725568.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG86997.
HOGENOMHOG000006653.
InParanoidQ5TD94.
OMAPWVKLPS.
OrthoDBEOG7K3TMX.
PhylomeDBQ5TD94.
TreeFamTF324531.

Gene expression databases

BgeeQ5TD94.
CleanExHS_RSHL3.
GenevestigatorQ5TD94.

Family and domain databases

InterProIPR006802. Radial_spoke.
[Graphical view]
PANTHERPTHR13159. PTHR13159. 1 hit.
PfamPF04712. Radial_spoke. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiRSPH4A.
GenomeRNAi345895.
NextBio98909.
PROQ5TD94.
SOURCESearch...

Entry information

Entry nameRSH4A_HUMAN
AccessionPrimary (citable) accession number: Q5TD94
Secondary accession number(s): B4DSI1, Q3KP24, Q5TD95
Entry history
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: December 21, 2004
Last modified: April 16, 2014
This is version 78 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 6

Human chromosome 6: entries, gene names and cross-references to MIM