Q5TD94 (RSH4A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Radial spoke head protein 4 homolog A

Alternative name(s):
Radial spoke head-like protein 3

Gene names

Name:	RSPH4A
Synonyms:	RSHL3

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	716 AA.
Sequence status	Complete.
Protein existence	Evidence 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	Cytoplasm › cytoskeleton › cilium axoneme Probable. Note: Radial spoke Probable. Ref.4
Involvement in disease	Primary ciliary dyskinesia 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
Sequence similarities	Belongs to the flagellar radial spoke RSP4/6 family.

Ontologies

Keywords
Cellular component	Cell projection Cilium Cytoplasm Cytoskeleton
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Ciliopathy Disease mutation Primary ciliary dyskinesia
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cilium axoneme assembly Inferred from mutant phenotype Ref.4. Source: BHF-UCL cilium movement Inferred from mutant phenotype Ref.4. Source: BHF-UCL
Cellular_component	cilium axoneme Inferred by curator Ref.4. Source: BHF-UCL cytoskeleton Inferred from electronic annotation. Source: UniProtKB-KW nucleolus Inferred from direct assay. Source: HPA radial spoke Inferred from sequence or structural similarity. Source: UniProtKB
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 716	716	Radial spoke head protein 4 homolog A		PRO_0000313738
Regions
	Compositional bias	370 – 405	36	Glu-rich
	Compositional bias	507 – 586	80	Glu-rich
Natural variations
	Alternative sequence	308 – 554	247	Missing in isoform 2.		VSP_030125
	Alternative sequence	555 – 600	46	GRCNW…SEDLE → RFRIYPPGQHGYPQISFHNM LLQSFNPTFGLEHMPSPMAK SLKIST in isoform 3.		VSP_030126
	Alternative sequence	601 – 716	116	Missing in isoform 3.		VSP_030127
	Natural variant	87	1	P → S in CILD11. Ref.4		VAR_055235
	Natural variant	149	1	T → S. Corresponds to variant rs13213314 [ dbSNP | Ensembl ].		VAR_037715
	Natural variant	556	1	R → H. Corresponds to variant rs6927567 [ dbSNP | Ensembl ].		VAR_037716
	Natural variant	589	1	L → P. Ref.1 Corresponds to variant rs784133 [ dbSNP | Ensembl ].		VAR_037717
	Natural variant	627	1	N → H. Corresponds to variant rs9488991 [ dbSNP | Ensembl ].		VAR_037718
	Natural variant	700	1	A → V. Corresponds to variant rs9488992 [ dbSNP | Ensembl ].		VAR_037719

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified December 21, 2004. Version 1. Checksum: A7951A85FBE6F6E7	FASTA	716	80,733
	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
	Isoform 2 [UniParc]. Checksum: 1181D047713591D4	FASTA	469	52,639
	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 QELEDEIGRC NWFNSIQKNE EEEEEEDEEK DDSDYIEQEV GLPLLTPISE DLEIQNIPPW 370 380 390 400 410 420 TTRLSSNLIP QYAIAVLQSN LWPGAYAFSN GKKFENFYIG WGHKYSPDNY TPPVPPPVYQ 430 440 450 460 EYPSGPEITE MDDPSVEEEQ AFRAAQEAVL LAAENEESEE DEDEEDDYD
	Isoform 3 [UniParc]. Checksum: 526B72E99DBBEF5D	FASTA	600	67,406
	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 ILSQRFRIYP PGQHGYPQIS FHNMLLQSFN PTFGLEHMPS PMAKSLKIST

References

	« Hide 'large scale' referencesShow '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. , 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]	"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. , 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.
+	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.
IPI	IPI00455732. IPI00513793. IPI00843919.
RefSeq	NP_001010892.1. NM_001010892.2. NP_001155136.1. NM_001161664.1.
UniGene	Hs.160380. Hs.625134.
3D structure databases
ProteinModelPortal	Q5TD94.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000229554.
PTM databases
PhosphoSite	Q5TD94.
Polymorphism databases
DMDM	74746178.
Proteomic databases
PaxDb	Q5TD94.
PRIDE	Q5TD94.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000229554; ENSP00000229554; ENSG00000111834. ENST00000368580; ENSP00000357569; ENSG00000111834. ENST00000368581; ENSP00000357570; ENSG00000111834.
GeneID	345895.
KEGG	hsa:345895.
UCSC	uc003pxe.2. human. uc010kee.2. human.
Organism-specific databases
CTD	345895.
GeneCards	GC06P116941.
HGNC	HGNC:21558. RSPH4A.
HPA	HPA031196. HPA031197. HPA031198.
MIM	612647. gene. 612649. phenotype.
neXtProt	NX_Q5TD94.
Orphanet	244. Primary ciliary dyskinesia.
PharmGKB	PA164725568.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG86997.
HOGENOM	HOG000006653.
InParanoid	Q5TD94.
OMA	PWVKLPS.
OrthoDB	EOG4RXXZT.
Gene expression databases
ArrayExpress	Q5TD94.
Bgee	Q5TD94.
CleanEx	HS_RSHL3.
Genevestigator	Q5TD94.
Family and domain databases
InterPro	IPR006802. Radial_spoke. [Graphical view]
PANTHER	PTHR13159. PTHR13159. 1 hit.
Pfam	PF04712. Radial_spoke. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	345895.
NextBio	98909.
SOURCE	Search...

Entry information

Entry name

RSH4A_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 69 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.