ROP1L_HUMAN
ID ROP1L_HUMAN Reviewed; 230 AA.
AC Q96C74; D3DTC9; Q9BZX0;
DT 23-OCT-2007, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 2.
DT 03-AUG-2022, entry version 131.
DE RecName: Full=Ropporin-1-like protein;
DE Short=ROPN1-like protein;
DE AltName: Full=AKAP-associated sperm protein;
GN Name=ROPN1L; Synonyms=ASP, RSPH11 {ECO:0000303|PubMed:27120127};
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], AND POSSIBLE INTERACTION WITH AKAP3.
RC TISSUE=Testis;
RX PubMed=11278869; DOI=10.1074/jbc.m011252200;
RA Carr D.W., Fujita A., Stentz C.L., Liberty G.A., Olson G.E., Narumiya S.;
RT "Identification of sperm-specific proteins that interact with A-kinase
RT anchoring proteins in a manner similar to the type II regulatory subunit of
RT PKA.";
RL J. Biol. Chem. 276:17332-17338(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15372022; DOI=10.1038/nature02919;
RA Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S.,
RA Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M.,
RA She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.,
RA Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M.,
RA Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M.,
RA Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T.,
RA Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A.,
RA Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R.,
RA Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L.,
RA Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N.,
RA Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J.,
RA Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A.,
RA Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.;
RT "The DNA sequence and comparative analysis of human chromosome 5.";
RL Nature 431:268-274(2004).
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 (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT ARG-156.
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 [5]
RP SUBCELLULAR LOCATION.
RX PubMed=27120127; DOI=10.1002/humu.23005;
RA Jeanson L., Thomas L., Copin B., Coste A., Sermet-Gaudelus I.,
RA Dastot-Le Moal F., Duquesnoy P., Montantin G., Collot N., Tissier S.,
RA Papon J.F., Clement A., Louis B., Escudier E., Amselem S., Legendre M.;
RT "Mutations in GAS8, a gene encoding a nexin-dynein regulatory complex
RT subunit, cause primary ciliary dyskinesia with axonemal disorganization.";
RL Hum. Mutat. 37:776-785(2016).
CC -!- FUNCTION: Important for male fertility. With ROPN1, involved in fibrous
CC sheath integrity and sperm motility, plays a role in PKA-dependent
CC signaling processes required for spermatozoa capacitation.
CC {ECO:0000250|UniProtKB:Q9EQ00}.
CC -!- SUBUNIT: May interact with AKAP3 (PubMed:11278869). Interacts with
CC FSCB; the interaction increases upon spermatozoa capacitation
CC conditions (By similarity). {ECO:0000250|UniProtKB:Q9EQ00,
CC ECO:0000269|PubMed:11278869}.
CC -!- INTERACTION:
CC Q96C74; Q86UN6: AKAP14; NbExp=3; IntAct=EBI-9033237, EBI-2119626;
CC Q96C74; P24588: AKAP5; NbExp=3; IntAct=EBI-9033237, EBI-703640;
CC Q96C74; O43687-2: AKAP7; NbExp=3; IntAct=EBI-9033237, EBI-10185182;
CC Q96C74; Q9BXY8: BEX2; NbExp=3; IntAct=EBI-9033237, EBI-745073;
CC Q96C74; Q96C74: ROPN1L; NbExp=3; IntAct=EBI-9033237, EBI-9033237;
CC Q96C74; Q86UC2: RSPH3; NbExp=7; IntAct=EBI-9033237, EBI-6873025;
CC Q96C74; Q15506: SPA17; NbExp=4; IntAct=EBI-9033237, EBI-1377865;
CC -!- SUBCELLULAR LOCATION: Cell projection, cilium, flagellum
CC {ECO:0000250|UniProtKB:Q9EQ00}. Cell projection, cilium
CC {ECO:0000269|PubMed:27120127}.
CC -!- PTM: Sumoylated, sumoylation decreases upon spermatozoa capacitation
CC conditions. {ECO:0000250|UniProtKB:Q9EQ00}.
CC -!- SIMILARITY: Belongs to the ropporin family. {ECO:0000305}.
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DR EMBL; AF239723; AAG59587.1; -; mRNA.
DR EMBL; AC092336; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471102; EAX08063.1; -; Genomic_DNA.
DR EMBL; CH471102; EAX08064.1; -; Genomic_DNA.
DR EMBL; BC014607; AAH14607.1; -; mRNA.
DR CCDS; CCDS3879.1; -.
DR RefSeq; NP_001188395.1; NM_001201466.1.
DR RefSeq; NP_114122.2; NM_031916.4.
DR AlphaFoldDB; Q96C74; -.
DR BioGRID; 123769; 12.
DR IntAct; Q96C74; 9.
DR STRING; 9606.ENSP00000421405; -.
DR GlyGen; Q96C74; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q96C74; -.
DR PhosphoSitePlus; Q96C74; -.
DR BioMuta; ROPN1L; -.
DR DMDM; 296452880; -.
DR MassIVE; Q96C74; -.
DR MaxQB; Q96C74; -.
DR PaxDb; Q96C74; -.
DR PeptideAtlas; Q96C74; -.
DR PRIDE; Q96C74; -.
DR ProteomicsDB; 76162; -.
DR Antibodypedia; 22503; 182 antibodies from 23 providers.
DR DNASU; 83853; -.
DR Ensembl; ENST00000274134.5; ENSP00000274134.4; ENSG00000145491.12.
DR Ensembl; ENST00000503804.5; ENSP00000421405.1; ENSG00000145491.12.
DR GeneID; 83853; -.
DR KEGG; hsa:83853; -.
DR MANE-Select; ENST00000274134.5; ENSP00000274134.4; NM_031916.5; NP_114122.2.
DR UCSC; uc003jex.5; human.
DR CTD; 83853; -.
DR DisGeNET; 83853; -.
DR GeneCards; ROPN1L; -.
DR HGNC; HGNC:24060; ROPN1L.
DR HPA; ENSG00000145491; Tissue enriched (testis).
DR MIM; 611756; gene.
DR neXtProt; NX_Q96C74; -.
DR OpenTargets; ENSG00000145491; -.
DR PharmGKB; PA134956127; -.
DR VEuPathDB; HostDB:ENSG00000145491; -.
DR eggNOG; ENOG502QTNR; Eukaryota.
DR GeneTree; ENSGT00390000012731; -.
DR HOGENOM; CLU_069829_1_0_1; -.
DR InParanoid; Q96C74; -.
DR OMA; DSRKNGM; -.
DR OrthoDB; 1316863at2759; -.
DR PhylomeDB; Q96C74; -.
DR TreeFam; TF105421; -.
DR PathwayCommons; Q96C74; -.
DR SignaLink; Q96C74; -.
DR BioGRID-ORCS; 83853; 18 hits in 1069 CRISPR screens.
DR GenomeRNAi; 83853; -.
DR Pharos; Q96C74; Tbio.
DR PRO; PR:Q96C74; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q96C74; protein.
DR Bgee; ENSG00000145491; Expressed in left testis and 107 other tissues.
DR Genevisible; Q96C74; HS.
DR GO; GO:0005929; C:cilium; IDA:UniProtKB.
DR GO; GO:0005737; C:cytoplasm; IDA:BHF-UCL.
DR GO; GO:0005576; C:extracellular region; IEA:GOC.
DR GO; GO:0031514; C:motile cilium; IDA:BHF-UCL.
DR GO; GO:0042802; F:identical protein binding; IPI:IntAct.
DR GO; GO:0003351; P:epithelial cilium movement involved in extracellular fluid movement; IC:BHF-UCL.
DR GO; GO:0030317; P:flagellated sperm motility; ISS:UniProtKB.
DR GO; GO:0001932; P:regulation of protein phosphorylation; ISS:UniProtKB.
DR GO; GO:0048240; P:sperm capacitation; ISS:UniProtKB.
PE 1: Evidence at protein level;
KW Cell projection; Cilium; Flagellum; Reference proteome; Ubl conjugation.
FT CHAIN 1..230
FT /note="Ropporin-1-like protein"
FT /id="PRO_0000307398"
FT DOMAIN 17..46
FT /note="RIIa"
FT VARIANT 103
FT /note="N -> K (in dbSNP:rs35573613)"
FT /id="VAR_035442"
FT VARIANT 113
FT /note="A -> V (in dbSNP:rs2303986)"
FT /id="VAR_057789"
FT VARIANT 156
FT /note="P -> R (in dbSNP:rs17851209)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_035443"
SQ SEQUENCE 230 AA; 26107 MW; 5692E967769E8D45 CRC64;
MPLPDTMFCA QQIHIPPELP DILKQFTKAA IRTQPADVLR WSAGYFSALS RGDPLPVKDR
MEMPTATQKT DTGLTQGLLK VLHKQCHHKR YVELTDLEQK WKNLCLPKEK FKALLQLDPC
ENKIKWINFL ALGCSMLGGS LNTALKHLCE ILTDDPEGGP ARIPFKTFSY VYRYLARLDS
DVSPLETESY LASLKENIDA RKNGMIGLSD FFFPKRKLLE SIENSEDVGH