RSH6A_HUMAN
ID RSH6A_HUMAN Reviewed; 717 AA.
AC Q9H0K4; Q53FE2; Q6PEZ9;
DT 04-DEC-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2001, sequence version 1.
DT 03-AUG-2022, entry version 136.
DE RecName: Full=Radial spoke head protein 6 homolog A {ECO:0000305};
DE AltName: Full=Radial spoke head-like protein 1;
GN Name=RSPH6A {ECO:0000312|HGNC:HGNC:14241}; Synonyms=RSHL1;
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 [LARGE SCALE MRNA].
RC TISSUE=Testis;
RX PubMed=11230166; DOI=10.1101/gr.gr1547r;
RA Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S.,
RA Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J.,
RA Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W.,
RA Ottenwaelder B., Obermaier B., Tampe J., Heubner D., Wambutt R., Korn B.,
RA Klein M., Poustka A.;
RT "Towards a catalog of human genes and proteins: sequencing and analysis of
RT 500 novel complete protein coding human cDNAs.";
RL Genome Res. 11:422-435(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Testis;
RA Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y.,
RA Tanaka A., Yokoyama S.;
RL Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2-717.
RC TISSUE=Testis;
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).
CC -!- FUNCTION: Essential for sperm flagellar assembly and male fertility.
CC {ECO:0000250|UniProtKB:Q8CDR2}.
CC -!- SUBUNIT: Interacts with RSPH1, RSPH4A, RSPH9 and RSPH10B.
CC {ECO:0000250|UniProtKB:Q8CDR2}.
CC -!- INTERACTION:
CC Q9H0K4; P61968: LMO4; NbExp=3; IntAct=EBI-12169267, EBI-2798728;
CC Q9H0K4; Q8NB12: SMYD1; NbExp=3; IntAct=EBI-12169267, EBI-8463848;
CC -!- SUBCELLULAR LOCATION: Cell projection, cilium, flagellum
CC {ECO:0000250|UniProtKB:Q8CDR2}. Cytoplasm, cytoskeleton, flagellum
CC axoneme {ECO:0000250|UniProtKB:Q8CDR2}.
CC -!- PTM: Phosphorylated by PKA. Phosphorylation increases in capacitated
CC sperm. {ECO:0000250|UniProtKB:Q8CDR2}.
CC -!- SIMILARITY: Belongs to the flagellar radial spoke RSP4/6 family.
CC {ECO:0000305}.
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DR EMBL; AL136761; CAB66695.1; -; mRNA.
DR EMBL; AK223347; BAD97067.1; -; mRNA.
DR EMBL; CH471126; EAW57388.1; -; Genomic_DNA.
DR EMBL; BC057785; AAH57785.1; -; mRNA.
DR CCDS; CCDS12675.1; -.
DR RefSeq; NP_110412.1; NM_030785.3.
DR AlphaFoldDB; Q9H0K4; -.
DR SMR; Q9H0K4; -.
DR BioGRID; 123501; 34.
DR IntAct; Q9H0K4; 3.
DR STRING; 9606.ENSP00000221538; -.
DR iPTMnet; Q9H0K4; -.
DR PhosphoSitePlus; Q9H0K4; -.
DR BioMuta; RSPH6A; -.
DR DMDM; 74717992; -.
DR MassIVE; Q9H0K4; -.
DR PaxDb; Q9H0K4; -.
DR PeptideAtlas; Q9H0K4; -.
DR PRIDE; Q9H0K4; -.
DR ProteomicsDB; 80291; -.
DR Antibodypedia; 49254; 37 antibodies from 12 providers.
DR DNASU; 81492; -.
DR Ensembl; ENST00000221538.8; ENSP00000221538.2; ENSG00000104941.8.
DR GeneID; 81492; -.
DR KEGG; hsa:81492; -.
DR MANE-Select; ENST00000221538.8; ENSP00000221538.2; NM_030785.4; NP_110412.1.
DR UCSC; uc002pdm.4; human.
DR CTD; 81492; -.
DR DisGeNET; 81492; -.
DR GeneCards; RSPH6A; -.
DR HGNC; HGNC:14241; RSPH6A.
DR HPA; ENSG00000104941; Tissue enriched (testis).
DR MIM; 607548; gene.
DR neXtProt; NX_Q9H0K4; -.
DR OpenTargets; ENSG00000104941; -.
DR PharmGKB; PA34873; -.
DR VEuPathDB; HostDB:ENSG00000104941; -.
DR eggNOG; ENOG502QSU4; Eukaryota.
DR GeneTree; ENSGT00500000044869; -.
DR InParanoid; Q9H0K4; -.
DR OMA; HGPYMRD; -.
DR OrthoDB; 619686at2759; -.
DR PhylomeDB; Q9H0K4; -.
DR TreeFam; TF324531; -.
DR PathwayCommons; Q9H0K4; -.
DR SignaLink; Q9H0K4; -.
DR BioGRID-ORCS; 81492; 25 hits in 1065 CRISPR screens.
DR ChiTaRS; RSPH6A; human.
DR GeneWiki; RSPH6A; -.
DR GenomeRNAi; 81492; -.
DR Pharos; Q9H0K4; Tdark.
DR PRO; PR:Q9H0K4; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q9H0K4; protein.
DR Bgee; ENSG00000104941; Expressed in left testis and 27 other tissues.
DR ExpressionAtlas; Q9H0K4; baseline and differential.
DR Genevisible; Q9H0K4; HS.
DR GO; GO:0005930; C:axoneme; IBA:GO_Central.
DR GO; GO:0001534; C:radial spoke; IEA:InterPro.
DR GO; GO:0036126; C:sperm flagellum; ISS:UniProtKB.
DR GO; GO:0035082; P:axoneme assembly; IBA:GO_Central.
DR GO; GO:0003341; P:cilium movement; IBA:GO_Central.
DR GO; GO:0060294; P:cilium movement involved in cell motility; IEA:InterPro.
DR GO; GO:1905199; P:manchette disassembly; ISS:UniProtKB.
DR GO; GO:0044458; P:motile cilium assembly; ISS:UniProtKB.
DR InterPro; IPR006802; Radial_spoke.
DR PANTHER; PTHR13159; PTHR13159; 1.
DR Pfam; PF04712; Radial_spoke; 1.
PE 1: Evidence at protein level;
KW Cell projection; Cilium; Cytoplasm; Cytoskeleton; Flagellum;
KW Reference proteome.
FT CHAIN 1..717
FT /note="Radial spoke head protein 6 homolog A"
FT /id="PRO_0000312760"
FT REGION 1..65
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 503..523
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 563..588
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 672..717
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 15..31
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 51..65
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 565..584
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 698..717
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 50
FT /note="A -> V (in dbSNP:rs12459916)"
FT /id="VAR_037560"
FT CONFLICT 55
FT /note="P -> S (in Ref. 2; BAD97067)"
FT /evidence="ECO:0000305"
FT CONFLICT 139
FT /note="Q -> R (in Ref. 2; BAD97067)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 717 AA; 80913 MW; 120C31FA0726AD76 CRC64;
MGDLPPYPER PAQQPPGRRT SQASQRRHSR DQAQALAADP EERQQIPPDA QRNAPGWSQR
GSLSQQENLL MPQVFQAEEA RLGGMEYPSV NTGFPSEFQP QPYSDESRMQ VAELTTSLML
QRLQQGQSSL FQQLDPTFQE PPVNPLGQFN LYQTDQFSEG AQHGPYIRDD PALQFLPSEL
GFPHYSAQVP EPEPLELAVQ NAKAYLLQTS INCDLSLYEH LVNLLTKILN QRPEDPLSVL
ESLNRTTQWE WFHPKLDTLR DDPEMQPTYK MAEKQKALFT RSGGGTEGEQ EMEEEVGETP
VPNIMETAFY FEQAGVGLSS DESFRIFLAM KQLVEQQPIH TCRFWGKILG IKRSYLVAEV
EFREGEEEAE EEEVEEMTEG GEVMEAHGEE EGEEDEEKAV DIVPKSVWKP PPVIPKEESR
SGANKYLYFV CNEPGLPWTR LPHVTPAQIV NARKIKKFFT GYLDTPVVSY PPFPGNEANY
LRAQIARISA ATQVSPLGFY QFSEEEGDEE EEGGAGRDSY EENPDFEGIP VLELVDSMAN
WVHHTQHILP QGRCTWVNPL QKTEEEEDLG EEEEKADEGP EEVEQEVGPP LLTPLSEDAE
IMHLAPWTTR LSCSLCPQYS VAVVRSNLWP GAYAYASGKK FENIYIGWGH KYSPESFNPA
LPAPIQQEYP SGPEIMEMSD PTVEEEQALK AAQEQALGAT EEEEEGEEEE EGEETDD
