ZPBP1_HUMAN
ID ZPBP1_HUMAN Reviewed; 351 AA.
AC Q9BS86; A4D253; C9JPU1; Q15941; Q75KX9; Q75MI3;
DT 11-OCT-2004, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2001, sequence version 1.
DT 03-AUG-2022, entry version 145.
DE RecName: Full=Zona pellucida-binding protein 1;
DE AltName: Full=Inner acrosomal membrane IAM38 {ECO:0000250|UniProtKB:Q62522};
DE AltName: Full=Sp38;
DE Flags: Precursor;
GN Name=ZPBP; Synonyms=ZPBP1;
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] (ISOFORM 1).
RC TISSUE=Testis;
RA Baba T., Mori E., Mori T., Kashiwabara S., Tanaka K.;
RT "Expression of the gene encoding zona-pellucida-binding protein, sp38,
RT during spermatogenesis.";
RL Submitted (SEP-1993) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RA Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S.,
RA Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y.,
RA Phelan M., Farmer A.;
RT "Cloning of human full-length CDSs in BD Creator(TM) system donor vector.";
RL Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Testis;
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=12690205; DOI=10.1126/science.1083423;
RA Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K.,
RA Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R.,
RA Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A.,
RA Kanematsu E., Gentles S., Christopoulos C.C., Choufani S., Kwasnicka D.,
RA Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S.,
RA Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R.,
RA Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N.,
RA Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E.,
RA Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R.,
RA Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T.,
RA Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W.,
RA Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A.,
RA Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X.,
RA Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E.,
RA Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H.,
RA Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J.,
RA Adams M.D., Tsui L.-C.;
RT "Human chromosome 7: DNA sequence and biology.";
RL Science 300:767-772(2003).
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 GENOMIC DNA].
RX PubMed=12853948; DOI=10.1038/nature01782;
RA Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H.,
RA Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K.,
RA Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A.,
RA Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H., Sun H.,
RA Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A.,
RA Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P.,
RA Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M.,
RA Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S.,
RA Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R.,
RA Strowmatt C., Latreille P., Miller N., Johnson D., Murray J.,
RA Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W.,
RA Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A.,
RA Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E.,
RA Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E.,
RA Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A.,
RA Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A.,
RA Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R.,
RA McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H.,
RA Wilson R.K.;
RT "The DNA sequence of human chromosome 7.";
RL Nature 424:157-164(2003).
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Pancreas;
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 [8]
RP REVIEW.
RX PubMed=9378618; DOI=10.1016/s0074-7696(08)62231-7;
RA McLeskey S.B., Dowds C., Carballada R., White R.R., Saling P.M.;
RT "Molecules involved in mammalian sperm-egg interaction.";
RL Int. Rev. Cytol. 177:57-113(1998).
RN [9]
RP TISSUE SPECIFICITY.
RX PubMed=17664285; DOI=10.1128/mcb.01029-07;
RA Lin Y.N., Roy A., Yan W., Burns K.H., Matzuk M.M.;
RT "Loss of zona pellucida binding proteins in the acrosomal matrix disrupts
RT acrosome biogenesis and sperm morphogenesis.";
RL Mol. Cell. Biol. 27:6794-6805(2007).
RN [10]
RP VARIANTS PRO-17; PRO-25; GLY-184; LEU-217; SER-225; SER-252 AND THR-287,
RP AND FUNCTION.
RX PubMed=21911476; DOI=10.1093/molehr/gar057;
RA Yatsenko A.N., O'Neil D.S., Roy A., Arias-Mendoza P.A., Chen R.,
RA Murthy L.J., Lamb D.J., Matzuk M.M.;
RT "Association of mutations in the zona pellucida binding protein 1 (ZPBP1)
RT gene with abnormal sperm head morphology in infertile men.";
RL Mol. Hum. Reprod. 18:14-21(2012).
CC -!- FUNCTION: Plays a role in acrosome compaction and sperm morphogenesis
CC (PubMed:21911476). Is implicated in sperm-oocyte interaction during
CC fertilization (By similarity). {ECO:0000250|UniProtKB:Q62522,
CC ECO:0000269|PubMed:21911476}.
CC -!- SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle, acrosome
CC membrane {ECO:0000250|UniProtKB:Q62522}; Peripheral membrane protein
CC {ECO:0000250|UniProtKB:Q62522}. Secreted {ECO:0000305}. Note=First
CC localized in acrosome granule, later migrates to the inner and outer
CC acrosomal membrane. Released after the acrosomal reaction.
CC {ECO:0000250|UniProtKB:Q62522}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9BS86-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9BS86-2; Sequence=VSP_045491;
CC -!- TISSUE SPECIFICITY: Expressed specifically in testis.
CC {ECO:0000269|PubMed:17664285}.
CC -!- PTM: N-glycosylated. {ECO:0000250|UniProtKB:Q62522}.
CC -!- SIMILARITY: Belongs to the zona pellucida-binding protein Sp38 family.
CC {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAS07517.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; D17570; BAA04495.1; -; mRNA.
DR EMBL; BT006822; AAP35468.1; -; mRNA.
DR EMBL; AK312799; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AC020743; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC034145; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC096568; AAS07517.1; ALT_INIT; Genomic_DNA.
DR EMBL; AC034148; AAS07558.1; -; Genomic_DNA.
DR EMBL; CH236955; EAL23903.1; -; Genomic_DNA.
DR EMBL; CH471128; EAW60984.1; -; Genomic_DNA.
DR EMBL; BC005223; AAH05223.1; -; mRNA.
DR CCDS; CCDS5509.1; -. [Q9BS86-1]
DR CCDS; CCDS55110.1; -. [Q9BS86-2]
DR RefSeq; NP_001153350.1; NM_001159878.1. [Q9BS86-2]
DR RefSeq; NP_008940.2; NM_007009.2. [Q9BS86-1]
DR AlphaFoldDB; Q9BS86; -.
DR BioGRID; 116240; 4.
DR IntAct; Q9BS86; 2.
DR STRING; 9606.ENSP00000046087; -.
DR GlyGen; Q9BS86; 3 sites.
DR iPTMnet; Q9BS86; -.
DR PhosphoSitePlus; Q9BS86; -.
DR BioMuta; ZPBP; -.
DR DMDM; 54036652; -.
DR MassIVE; Q9BS86; -.
DR PaxDb; Q9BS86; -.
DR PeptideAtlas; Q9BS86; -.
DR PRIDE; Q9BS86; -.
DR ProteomicsDB; 11161; -.
DR ProteomicsDB; 78866; -. [Q9BS86-1]
DR Antibodypedia; 55139; 77 antibodies from 20 providers.
DR DNASU; 11055; -.
DR Ensembl; ENST00000046087.7; ENSP00000046087.2; ENSG00000042813.8. [Q9BS86-1]
DR Ensembl; ENST00000419417.5; ENSP00000402071.1; ENSG00000042813.8. [Q9BS86-2]
DR GeneID; 11055; -.
DR KEGG; hsa:11055; -.
DR MANE-Select; ENST00000046087.7; ENSP00000046087.2; NM_007009.3; NP_008940.2.
DR UCSC; uc003tou.4; human. [Q9BS86-1]
DR CTD; 11055; -.
DR DisGeNET; 11055; -.
DR GeneCards; ZPBP; -.
DR HGNC; HGNC:15662; ZPBP.
DR HPA; ENSG00000042813; Tissue enriched (testis).
DR MIM; 608498; gene.
DR neXtProt; NX_Q9BS86; -.
DR OpenTargets; ENSG00000042813; -.
DR PharmGKB; PA38013; -.
DR VEuPathDB; HostDB:ENSG00000042813; -.
DR eggNOG; ENOG502RJ20; Eukaryota.
DR GeneTree; ENSGT00520000055647; -.
DR HOGENOM; CLU_056016_0_1_1; -.
DR InParanoid; Q9BS86; -.
DR OMA; GIHCLPC; -.
DR OrthoDB; 1069241at2759; -.
DR PhylomeDB; Q9BS86; -.
DR TreeFam; TF335677; -.
DR PathwayCommons; Q9BS86; -.
DR SignaLink; Q9BS86; -.
DR BioGRID-ORCS; 11055; 15 hits in 1065 CRISPR screens.
DR ChiTaRS; ZPBP; human.
DR GenomeRNAi; 11055; -.
DR Pharos; Q9BS86; Tbio.
DR PRO; PR:Q9BS86; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; Q9BS86; protein.
DR Bgee; ENSG00000042813; Expressed in adult organism and 86 other tissues.
DR ExpressionAtlas; Q9BS86; baseline and differential.
DR Genevisible; Q9BS86; HS.
DR GO; GO:0002080; C:acrosomal membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0001669; C:acrosomal vesicle; IBA:GO_Central.
DR GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell.
DR GO; GO:0005634; C:nucleus; HDA:UniProtKB.
DR GO; GO:0002199; C:zona pellucida receptor complex; IBA:GO_Central.
DR GO; GO:0001675; P:acrosome assembly; IBA:GO_Central.
DR GO; GO:0007339; P:binding of sperm to zona pellucida; IBA:GO_Central.
DR Gene3D; 2.60.40.10; -; 1.
DR InterPro; IPR007110; Ig-like_dom.
DR InterPro; IPR036179; Ig-like_dom_sf.
DR InterPro; IPR013783; Ig-like_fold.
DR InterPro; IPR010857; Sp38-bd.
DR PANTHER; PTHR15443; PTHR15443; 1.
DR Pfam; PF07354; Sp38; 1.
DR SUPFAM; SSF48726; SSF48726; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Cytoplasmic vesicle; Glycoprotein; Membrane;
KW Reference proteome; Secreted; Signal.
FT SIGNAL 1..44
FT /evidence="ECO:0000255"
FT CHAIN 45..351
FT /note="Zona pellucida-binding protein 1"
FT /id="PRO_0000041598"
FT CARBOHYD 114
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 187
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 340
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 112
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_045491"
FT VARIANT 17
FT /note="R -> P (in dbSNP:rs202231065)"
FT /evidence="ECO:0000269|PubMed:21911476"
FT /id="VAR_076826"
FT VARIANT 25
FT /note="R -> P (in dbSNP:rs61696422)"
FT /evidence="ECO:0000269|PubMed:21911476"
FT /id="VAR_076827"
FT VARIANT 184
FT /note="S -> G (found in an infertile patient with
FT teratozoospermia; unknown pathological significance;
FT dbSNP:rs1299521157)"
FT /evidence="ECO:0000269|PubMed:21911476"
FT /id="VAR_076828"
FT VARIANT 217
FT /note="H -> L (found in an infertile patient with
FT teratozoospermia; unknown pathological significance)"
FT /evidence="ECO:0000269|PubMed:21911476"
FT /id="VAR_076829"
FT VARIANT 225
FT /note="G -> S (found in an infertile patient with
FT teratozoospermia; unknown pathological significance;
FT dbSNP:rs1468321681)"
FT /evidence="ECO:0000269|PubMed:21911476"
FT /id="VAR_076830"
FT VARIANT 252
FT /note="N -> S (found in an infertile patient with
FT teratozoospermia; unknown pathological significance)"
FT /evidence="ECO:0000269|PubMed:21911476"
FT /id="VAR_076831"
FT VARIANT 287
FT /note="I -> T (found in an infertile patient with
FT teratozoospermia; unknown pathological significance)"
FT /evidence="ECO:0000269|PubMed:21911476"
FT /id="VAR_076832"
FT CONFLICT 180
FT /note="A -> V (in Ref. 1; BAA04495)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 351 AA; 40142 MW; 8B57027FBE12E7DB CRC64;
MEAFALGPAR RGRRRTRAAG SLLSRAAILL FISAFLVRVP SSVGHLVRLP RAFRLTKDSV
KIVGSTSFPV KAYVMLHQKS PHVLCVTQQL RNAELIDPSF QWYGPKGKVV SVENRTAQIT
STGSLVFQNF EESMSGIYTC FLEYKPTVEE IVKRLQLKYA IYAYREPHYY YQFTARYHAA
PCNSIYNISF EKKLLQILSK LLLDLSCEIS LLKSECHRVK MQRAGLQNEL FFAFSVSSLD
TEKGPKRCTD HNCEPYKRLF KAKNLIERFF NQQVEILGRR AEQLPQIYYI EGTLQMVWIN
RCFPGYGMNV QQHPKCPECC VICSPGSYNP RDGIHCLQCN SSLVYGAKTC L
