RSPH1_HUMAN
ID RSPH1_HUMAN Reviewed; 309 AA.
AC Q8WYR4; A8MWV0; B2RBN9; Q3MJA1;
DT 20-JUN-2002, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2002, sequence version 1.
DT 03-AUG-2022, entry version 147.
DE RecName: Full=Radial spoke head 1 homolog;
DE AltName: Full=Cancer/testis antigen 79;
DE Short=CT79;
DE AltName: Full=Male meiotic metaphase chromosome-associated acidic protein;
DE AltName: Full=Meichroacidin;
DE AltName: Full=Testis-specific gene A2 protein;
GN Name=RSPH1; Synonyms=TSA2, TSGA2;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Testis;
RX PubMed=9578619; DOI=10.1006/dbio.1998.8885;
RA Tsuchida J., Nishina Y., Wakabayashi N., Nozaki M., Sakai Y., Nishimune Y.;
RT "Molecular cloning and characterization of meichroacidin (male meiotic
RT metaphase chromosome-associated acidic protein).";
RL Dev. Biol. 197:67-76(1998).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Testis;
RA Shimizu N., Kudoh J., Shibuya K.;
RL Submitted (APR-2000) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Ovary;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=10830953; DOI=10.1038/35012518;
RA Hattori M., Fujiyama A., Taylor T.D., Watanabe H., Yada T., Park H.-S.,
RA Toyoda A., Ishii K., Totoki Y., Choi D.-K., Groner Y., Soeda E., Ohki M.,
RA Takagi T., Sakaki Y., Taudien S., Blechschmidt K., Polley A., Menzel U.,
RA Delabar J., Kumpf K., Lehmann R., Patterson D., Reichwald K., Rump A.,
RA Schillhabel M., Schudy A., Zimmermann W., Rosenthal A., Kudoh J.,
RA Shibuya K., Kawasaki K., Asakawa S., Shintani A., Sasaki T., Nagamine K.,
RA Mitsuyama S., Antonarakis S.E., Minoshima S., Shimizu N., Nordsiek G.,
RA Hornischer K., Brandt P., Scharfe M., Schoen O., Desario A., Reichelt J.,
RA Kauer G., Bloecker H., Ramser J., Beck A., Klages S., Hennig S.,
RA Riesselmann L., Dagand E., Wehrmeyer S., Borzym K., Gardiner K.,
RA Nizetic D., Francis F., Lehrach H., Reinhardt R., Yaspo M.-L.;
RT "The DNA sequence of human chromosome 21.";
RL Nature 405:311-319(2000).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [7]
RP FUNCTION, TISSUE SPECIFICITY, SUBCELLULAR LOCATION, AND VARIANT CILD24
RP ASP-103.
RX PubMed=23993197; DOI=10.1016/j.ajhg.2013.07.013;
RA Kott E., Legendre M., Copin B., Papon J.F., Dastot-Le Moal F.,
RA Montantin G., Duquesnoy P., Piterboth W., Amram D., Bassinet L.,
RA Beucher J., Beydon N., Deneuville E., Houdouin V., Journel H., Just J.,
RA Nathan N., Tamalet A., Collot N., Jeanson L., Le Gouez M., Vallette B.,
RA Vojtek A.M., Epaud R., Coste A., Clement A., Housset B., Louis B.,
RA Escudier E., Amselem S.;
RT "Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with
RT central-complex and radial-spoke defects.";
RL Am. J. Hum. Genet. 93:561-570(2013).
RN [8]
RP INVOLVEMENT IN CILD24.
RX PubMed=25186273; DOI=10.1183/09031936.00052014;
RA Raidt J., Wallmeier J., Hjeij R., Onnebrink J.G., Pennekamp P., Loges N.T.,
RA Olbrich H., Haeffner K., Dougherty G.W., Omran H., Werner C.;
RT "Ciliary beat pattern and frequency in genetic variants of primary ciliary
RT dyskinesia.";
RL Eur. Respir. J. 44:1579-1588(2014).
CC -!- FUNCTION: May play an important role in male meiosis (By similarity).
CC It is necessary for proper building of the axonemal central pair and
CC radial spokes. {ECO:0000250|UniProtKB:Q8VIG3,
CC ECO:0000269|PubMed:23993197}.
CC -!- SUBUNIT: Interacts with RSPH6A. {ECO:0000250|UniProtKB:Q8VIG3}.
CC -!- INTERACTION:
CC Q8WYR4; Q6PF18: MORN3; NbExp=7; IntAct=EBI-10253582, EBI-9675802;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q8VIG3}. Cell
CC projection, cilium {ECO:0000269|PubMed:23993197}. Note=Cytoplasmic in
CC late spermatocytes, secondary spermatocytes and round spermatids.
CC Gathered around metaphase chromosomes during meiotic divisions (By
CC similarity). {ECO:0000250|UniProtKB:Q8VIG3}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8WYR4-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8WYR4-2; Sequence=VSP_055743;
CC -!- TISSUE SPECIFICITY: Expressed in trachea, lungs, airway brushings, and
CC testes. {ECO:0000269|PubMed:23993197}.
CC -!- DISEASE: Ciliary dyskinesia, primary, 24 (CILD24) [MIM:615481]: A
CC disorder characterized by abnormalities of motile cilia. Respiratory
CC infections leading to chronic inflammation and bronchiectasis are
CC recurrent, due to defects in the respiratory cilia. Situs inversus is
CC not observed in CILD24 patients. {ECO:0000269|PubMed:23993197,
CC ECO:0000269|PubMed:25186273}. Note=The disease is caused by variants
CC affecting the gene represented in this entry. RSPH1 mutations result in
CC a primary ciliary diskinesia phenotype with defects of the radial
CC spokes and the axonemal central pair of microtubules (PubMed:23993197).
CC {ECO:0000269|PubMed:23993197}.
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DR EMBL; AB006536; BAB83694.1; -; mRNA.
DR EMBL; AB041016; BAB92995.1; -; mRNA.
DR EMBL; AK314746; BAG37286.1; -; mRNA.
DR EMBL; AP001624; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AP001625; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471079; EAX09557.1; -; Genomic_DNA.
DR EMBL; BC101519; AAI01520.1; -; mRNA.
DR EMBL; BC113367; AAI13368.1; -; mRNA.
DR CCDS; CCDS13688.1; -. [Q8WYR4-1]
DR CCDS; CCDS68210.1; -. [Q8WYR4-2]
DR RefSeq; NP_001273435.1; NM_001286506.1. [Q8WYR4-2]
DR RefSeq; NP_543136.1; NM_080860.3. [Q8WYR4-1]
DR AlphaFoldDB; Q8WYR4; -.
DR SMR; Q8WYR4; -.
DR BioGRID; 124591; 16.
DR IntAct; Q8WYR4; 1.
DR STRING; 9606.ENSP00000291536; -.
DR iPTMnet; Q8WYR4; -.
DR PhosphoSitePlus; Q8WYR4; -.
DR BioMuta; RSPH1; -.
DR DMDM; 21542279; -.
DR jPOST; Q8WYR4; -.
DR MassIVE; Q8WYR4; -.
DR PaxDb; Q8WYR4; -.
DR PeptideAtlas; Q8WYR4; -.
DR PRIDE; Q8WYR4; -.
DR ProteomicsDB; 2268; -.
DR ProteomicsDB; 75197; -. [Q8WYR4-1]
DR Antibodypedia; 9520; 65 antibodies from 24 providers.
DR DNASU; 89765; -.
DR Ensembl; ENST00000291536.8; ENSP00000291536.3; ENSG00000160188.10. [Q8WYR4-1]
DR Ensembl; ENST00000398352.3; ENSP00000381395.3; ENSG00000160188.10. [Q8WYR4-2]
DR GeneID; 89765; -.
DR KEGG; hsa:89765; -.
DR MANE-Select; ENST00000291536.8; ENSP00000291536.3; NM_080860.4; NP_543136.1.
DR UCSC; uc002zbg.4; human. [Q8WYR4-1]
DR CTD; 89765; -.
DR DisGeNET; 89765; -.
DR GeneCards; RSPH1; -.
DR GeneReviews; RSPH1; -.
DR HGNC; HGNC:12371; RSPH1.
DR HPA; ENSG00000160188; Tissue enriched (fallopian).
DR MalaCards; RSPH1; -.
DR MIM; 609314; gene.
DR MIM; 615481; phenotype.
DR neXtProt; NX_Q8WYR4; -.
DR OpenTargets; ENSG00000160188; -.
DR Orphanet; 244; Primary ciliary dyskinesia.
DR PharmGKB; PA162402177; -.
DR VEuPathDB; HostDB:ENSG00000160188; -.
DR eggNOG; KOG0231; Eukaryota.
DR GeneTree; ENSGT00940000157240; -.
DR HOGENOM; CLU_032017_2_0_1; -.
DR InParanoid; Q8WYR4; -.
DR OMA; EQHGEYK; -.
DR OrthoDB; 1309439at2759; -.
DR PhylomeDB; Q8WYR4; -.
DR TreeFam; TF329346; -.
DR PathwayCommons; Q8WYR4; -.
DR SignaLink; Q8WYR4; -.
DR BioGRID-ORCS; 89765; 16 hits in 1074 CRISPR screens.
DR GeneWiki; RSPH1; -.
DR GenomeRNAi; 89765; -.
DR Pharos; Q8WYR4; Tbio.
DR PRO; PR:Q8WYR4; -.
DR Proteomes; UP000005640; Chromosome 21.
DR RNAct; Q8WYR4; protein.
DR Bgee; ENSG00000160188; Expressed in bronchial epithelial cell and 142 other tissues.
DR Genevisible; Q8WYR4; HS.
DR GO; GO:0000794; C:condensed nuclear chromosome; IEA:Ensembl.
DR GO; GO:0005829; C:cytosol; HDA:UniProtKB.
DR GO; GO:0072687; C:meiotic spindle; IEA:Ensembl.
DR GO; GO:0031514; C:motile cilium; IDA:UniProtKB.
DR GO; GO:0005634; C:nucleus; HDA:UniProtKB.
DR GO; GO:0001520; C:outer dense fiber; IEA:Ensembl.
DR GO; GO:0035082; P:axoneme assembly; IMP:UniProtKB.
DR GO; GO:0051321; P:meiotic cell cycle; IEA:UniProtKB-KW.
DR GO; GO:0007286; P:spermatid development; IBA:GO_Central.
DR InterPro; IPR003409; MORN.
DR Pfam; PF02493; MORN; 7.
DR SMART; SM00698; MORN; 5.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell projection; Ciliopathy; Cytoplasm;
KW Disease variant; Meiosis; Primary ciliary dyskinesia; Reference proteome;
KW Repeat.
FT CHAIN 1..309
FT /note="Radial spoke head 1 homolog"
FT /id="PRO_0000065662"
FT REPEAT 20..43
FT /note="MORN 1"
FT REPEAT 44..66
FT /note="MORN 2"
FT REPEAT 67..89
FT /note="MORN 3"
FT REPEAT 90..112
FT /note="MORN 4"
FT REPEAT 113..135
FT /note="MORN 5"
FT REPEAT 159..181
FT /note="MORN 6"
FT REGION 1..42
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 222..309
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1..17
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 18..38
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 261..309
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 19..56
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000305"
FT /id="VSP_055743"
FT VARIANT 103
FT /note="G -> D (in CILD24; dbSNP:rs587777060)"
FT /evidence="ECO:0000269|PubMed:23993197"
FT /id="VAR_070564"
SQ SEQUENCE 309 AA; 35124 MW; 09A20A766D5A6AB8 CRC64;
MSDLGSEELE EEGENDIGEY EGGRNEAGER HGRGRARLPN GDTYEGSYEF GKRHGQGIYK
FKNGARYIGE YVRNKKHGQG TFIYPDGSRY EGEWANDLRH GHGVYYYINN DTYTGEWFAH
QRHGQGTYLY AETGSKYVGT WVNGQQEGTA ELIHLNHRYQ GKFLNKNPVG PGKYVFDVGC
EQHGEYRLTD MERGEEEEEE ELVTVVPKWK ATQITELALW TPTLPKKPTS TDGPGQDAPG
AESAGEPGEE AQALLEGFEG EMDMRPGDED ADVLREESRE YDQEEFRYDM DEGNINSEEE
ETRQSDLQD
