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Protein

Radial spoke head protein 4 homolog A

Gene

RSPH4A

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

Names & Taxonomyi

Protein namesi
Recommended name:
Radial spoke head protein 4 homolog A
Alternative name(s):
Radial spoke head-like protein 3
Gene namesi
Name:RSPH4A
Synonyms:RSHL3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:21558. RSPH4A.

Subcellular locationi

GO - Cellular componenti

  • axoneme Source: BHF-UCL
  • cytoskeleton Source: UniProtKB-KW
  • motile cilium Source: BHF-UCL
  • nucleolus Source: HPA
  • nucleoplasm Source: HPA
  • nucleus Source: HPA
  • radial spoke Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Ciliary dyskinesia, primary, 11 (CILD11)3 Publications

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:612649
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti87 – 871P → S in CILD11. 1 Publication
VAR_055235
Natural varianti464 – 4641G → E in CILD11; unknown pathological significance.
VAR_070565

Keywords - Diseasei

Ciliopathy, Disease mutation, Primary ciliary dyskinesia

Organism-specific databases

MIMi612649. phenotype.
Orphaneti244. Primary ciliary dyskinesia.
PharmGKBiPA164725568.

Polymorphism and mutation databases

BioMutaiRSPH4A.
DMDMi74746178.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 716716Radial spoke head protein 4 homolog APRO_0000313738Add
BLAST

Proteomic databases

PaxDbiQ5TD94.
PRIDEiQ5TD94.

PTM databases

PhosphoSiteiQ5TD94.

Expressioni

Tissue specificityi

Expressed in trachea, lungs, and testes. Very strong expression is detected in nasal brushings.1 Publication

Gene expression databases

BgeeiQ5TD94.
CleanExiHS_RSHL3.
GenevestigatoriQ5TD94.

Organism-specific databases

HPAiHPA031196.
HPA031197.
HPA031198.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000229554.

Structurei

3D structure databases

ProteinModelPortaliQ5TD94.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi370 – 40536Glu-richAdd
BLAST
Compositional biasi507 – 58680Glu-richAdd
BLAST

Sequence similaritiesi

Phylogenomic databases

eggNOGiNOG86997.
GeneTreeiENSGT00500000044869.
HOGENOMiHOG000006653.
InParanoidiQ5TD94.
OMAiNRTGANK.
OrthoDBiEOG7K3TMX.
PhylomeDBiQ5TD94.
TreeFamiTF324531.

Family and domain databases

InterProiIPR006802. Radial_spoke.
[Graphical view]
PANTHERiPTHR13159. PTHR13159. 1 hit.
PfamiPF04712. Radial_spoke. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q5TD94-1) [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
MEDSTSPKQE KENQEELGET RRPWEGKTAA SPQYSEPESS EPLEAKQGPE
60 70 80 90 100
TGRQSRSSRP WSPQSRAKTP LGGPAGPETS SPAPVSPREP SSSPSPLAPA
110 120 130 140 150
RQDLAAPPQS DRTTSVIPEA GTPYPDPLEQ SSDKRESTPH HTSQSEGNTF
160 170 180 190 200
QQSQQPKPHL CGRRDVSYNN AKQKELRFDV FQEEDSNSDY DLQQPAPGGS
210 220 230 240 250
EVAPSMLEIT IQNAKAYLLK TSSNSGFNLY DHLSNMLTKI LNERPENAVD
260 270 280 290 300
IFENISQDVK MAHFSKKFDA LQNENELLPT YEIAEKQKAL FLQGHLEGVD
310 320 330 340 350
QELEDEIAEN ALPNVMESAF YFEQAGVGLG TDETYRIFLA LKQLTDTHPI
360 370 380 390 400
QRCRFWGKIL GLEMNYIVAE VEFREGEDEE EVEEEDVAEE RDNGESEAHE
410 420 430 440 450
DEEDELPKSF YKAPQAIPKE ESRTGANKYV YFVCNEPGRP WVKLPPVIPA
460 470 480 490 500
QIVIARKIKK FFTGRLDAPI ISYPPFPGNE SNYLRAQIAR ISAGTHVSPL
510 520 530 540 550
GFYQFGEEEG EEEEEAEGGR NSFEENPDFE GIQVIDLVES LSNWVHHVQH
560 570 580 590 600
ILSQGRCNWF NSIQKNEEEE EEEDEEKDDS DYIEQEVGLP LLTPISEDLE
610 620 630 640 650
IQNIPPWTTR LSSNLIPQYA IAVLQSNLWP GAYAFSNGKK FENFYIGWGH
660 670 680 690 700
KYSPDNYTPP VPPPVYQEYP SGPEITEMDD PSVEEEQAFR AAQEAVLLAA
710
ENEESEEDED EEDDYD

Note: Gene prediction based on EST data.

Length:716
Mass (Da):80,733
Last modified:December 21, 2004 - v1
Checksum:iA7951A85FBE6F6E7
GO
Isoform 2 (identifier: Q5TD94-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     308-554: Missing.

Note: Gene prediction based on EST data.

Show »
Length:469
Mass (Da):52,639
Checksum:i1181D047713591D4
GO
Isoform 3 (identifier: Q5TD94-3) [UniParc]FASTAAdd to basket

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.

Show »
Length:600
Mass (Da):67,406
Checksum:i526B72E99DBBEF5D
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti87 – 871P → S in CILD11. 1 Publication
VAR_055235
Natural varianti149 – 1491T → S.
Corresponds to variant rs13213314 [ dbSNP | Ensembl ].
VAR_037715
Natural varianti464 – 4641G → E in CILD11; unknown pathological significance.
VAR_070565
Natural varianti556 – 5561R → H.
Corresponds to variant rs6927567 [ dbSNP | Ensembl ].
VAR_037716
Natural varianti589 – 5891L → P.1 Publication
Corresponds to variant rs784133 [ dbSNP | Ensembl ].
VAR_037717
Natural varianti627 – 6271N → H.
Corresponds to variant rs9488991 [ dbSNP | Ensembl ].
VAR_037718
Natural varianti700 – 7001A → V.
Corresponds to variant rs9488992 [ dbSNP | Ensembl ].
VAR_037719

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei308 – 554247Missing in isoform 2. CuratedVSP_030125Add
BLAST
Alternative sequencei555 – 60046GRCNW…SEDLE → RFRIYPPGQHGYPQISFHNM LLQSFNPTFGLEHMPSPMAK SLKIST in isoform 3. 1 PublicationVSP_030126Add
BLAST
Alternative sequencei601 – 716116Missing in isoform 3. 1 PublicationVSP_030127Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK299754 mRNA. Translation: BAG61643.1.
AL132795 Genomic DNA. Translation: CAI20496.1.
AL132795 Genomic DNA. Translation: CAI20497.1.
BC106949 mRNA. Translation: AAI06950.1.
CCDSiCCDS34521.1. [Q5TD94-1]
CCDS55051.1. [Q5TD94-3]
RefSeqiNP_001010892.1. NM_001010892.2. [Q5TD94-1]
NP_001155136.1. NM_001161664.1. [Q5TD94-3]
UniGeneiHs.160380.
Hs.625134.

Genome annotation databases

EnsembliENST00000229554; ENSP00000229554; ENSG00000111834. [Q5TD94-1]
ENST00000368580; ENSP00000357569; ENSG00000111834. [Q5TD94-2]
ENST00000368581; ENSP00000357570; ENSG00000111834. [Q5TD94-3]
GeneIDi345895.
KEGGihsa:345895.
UCSCiuc003pxe.2. human. [Q5TD94-1]
uc010kee.2. human. [Q5TD94-3]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK299754 mRNA. Translation: BAG61643.1.
AL132795 Genomic DNA. Translation: CAI20496.1.
AL132795 Genomic DNA. Translation: CAI20497.1.
BC106949 mRNA. Translation: AAI06950.1.
CCDSiCCDS34521.1. [Q5TD94-1]
CCDS55051.1. [Q5TD94-3]
RefSeqiNP_001010892.1. NM_001010892.2. [Q5TD94-1]
NP_001155136.1. NM_001161664.1. [Q5TD94-3]
UniGeneiHs.160380.
Hs.625134.

3D structure databases

ProteinModelPortaliQ5TD94.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000229554.

PTM databases

PhosphoSiteiQ5TD94.

Polymorphism and mutation databases

BioMutaiRSPH4A.
DMDMi74746178.

Proteomic databases

PaxDbiQ5TD94.
PRIDEiQ5TD94.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000229554; ENSP00000229554; ENSG00000111834. [Q5TD94-1]
ENST00000368580; ENSP00000357569; ENSG00000111834. [Q5TD94-2]
ENST00000368581; ENSP00000357570; ENSG00000111834. [Q5TD94-3]
GeneIDi345895.
KEGGihsa:345895.
UCSCiuc003pxe.2. human. [Q5TD94-1]
uc010kee.2. human. [Q5TD94-3]

Organism-specific databases

CTDi345895.
GeneCardsiGC06P116941.
GeneReviewsiRSPH4A.
HGNCiHGNC:21558. RSPH4A.
HPAiHPA031196.
HPA031197.
HPA031198.
MIMi612647. gene.
612649. phenotype.
neXtProtiNX_Q5TD94.
Orphaneti244. Primary ciliary dyskinesia.
PharmGKBiPA164725568.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG86997.
GeneTreeiENSGT00500000044869.
HOGENOMiHOG000006653.
InParanoidiQ5TD94.
OMAiNRTGANK.
OrthoDBiEOG7K3TMX.
PhylomeDBiQ5TD94.
TreeFamiTF324531.

Miscellaneous databases

GeneWikiiRSPH4A.
GenomeRNAii345895.
NextBioi98909.
PROiQ5TD94.
SOURCEiSearch...

Gene expression databases

BgeeiQ5TD94.
CleanExiHS_RSHL3.
GenevestigatoriQ5TD94.

Family and domain databases

InterProiIPR006802. Radial_spoke.
[Graphical view]
PANTHERiPTHR13159. PTHR13159. 1 hit.
PfamiPF04712. Radial_spoke. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.
    , 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. 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. Cited for: TISSUE SPECIFICITY, SUBCELLULAR LOCATION.
  7. "Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia."
    Raidt J., Wallmeier J., Hjeij R., Onnebrink J.G., Pennekamp P., Loges N.T., Olbrich H., Haeffner K., Dougherty G.W., Omran H., Werner C.
    Eur. Respir. J. 44:1579-1588(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN CILD11.

Entry informationi

Entry nameiRSH4A_HUMAN
AccessioniPrimary (citable) accession number: Q5TD94
Secondary accession number(s): B4DSI1, Q3KP24, Q5TD95
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: December 21, 2004
Last modified: April 29, 2015
This is version 87 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

External Data

Dasty 3

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 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.