ZPBP2_HUMAN
ID ZPBP2_HUMAN Reviewed; 338 AA.
AC Q6X784; A8K8L8; Q6X783; Q86XL5;
DT 11-OCT-2004, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 132.
DE RecName: Full=Zona pellucida-binding protein 2;
DE AltName: Full=ZPBP-like protein;
DE Flags: Precursor;
GN Name=ZPBP2; Synonyms=ZPBPL;
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] (ISOFORMS 1 AND 2).
RA Lin Y.-N., Yan W., Burns K.H., Matzuk M.M.;
RT "Characterization of zona pellucida binding protein 2 (ZPBP2), a paralog of
RT ZPBP1.";
RL Submitted (MAR-2003) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT ILE-173.
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
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).
RN [4]
RP IDENTIFICATION.
RX PubMed=12883658;
RA Katoh M., Katoh M.;
RT "Identification and characterization of human ZPBP-like gene in silico.";
RL Int. J. Mol. Med. 12:399-404(2003).
RN [5]
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 [6]
RP VARIANT ILE-69.
RX PubMed=21594610; DOI=10.1007/s00439-011-1006-9;
RA Kaneko H., Kitoh H., Matsuura T., Masuda A., Ito M., Mottes M., Rauch F.,
RA Ishiguro N., Ohno K.;
RT "Hyperuricemia cosegregating with osteogenesis imperfecta is associated
RT with a mutation in GPATCH8.";
RL Hum. Genet. 130:671-683(2011).
CC -!- FUNCTION: Is implicated in sperm-oocyte interaction during
CC fertilization. {ECO:0000250|UniProtKB:Q6X786}.
CC -!- SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle, acrosome
CC {ECO:0000250|UniProtKB:Q6X786}. Secreted {ECO:0000305}. Note=Released
CC after the acrosomal reaction. {ECO:0000250|UniProtKB:Q6X786}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q6X784-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6X784-2; Sequence=VSP_011683;
CC -!- TISSUE SPECIFICITY: Expressed specifically in testis.
CC {ECO:0000269|PubMed:17664285}.
CC -!- PTM: N-glycosylated. {ECO:0000250|UniProtKB:Q6X786}.
CC -!- SIMILARITY: Belongs to the zona pellucida-binding protein Sp38 family.
CC {ECO:0000305}.
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DR EMBL; AY251603; AAP83950.1; -; mRNA.
DR EMBL; AY251604; AAP83951.1; -; mRNA.
DR EMBL; AK292383; BAF85072.1; -; mRNA.
DR EMBL; BC043152; AAH43152.3; -; mRNA.
DR CCDS; CCDS11352.1; -. [Q6X784-1]
DR CCDS; CCDS11353.2; -. [Q6X784-2]
DR RefSeq; NP_942141.2; NM_198844.2. [Q6X784-2]
DR RefSeq; NP_955353.1; NM_199321.2. [Q6X784-1]
DR AlphaFoldDB; Q6X784; -.
DR BioGRID; 125879; 25.
DR IntAct; Q6X784; 9.
DR STRING; 9606.ENSP00000335384; -.
DR GlyGen; Q6X784; 4 sites.
DR BioMuta; ZPBP2; -.
DR DMDM; 54036632; -.
DR MassIVE; Q6X784; -.
DR PaxDb; Q6X784; -.
DR PeptideAtlas; Q6X784; -.
DR PRIDE; Q6X784; -.
DR ProteomicsDB; 67790; -. [Q6X784-1]
DR ProteomicsDB; 67791; -. [Q6X784-2]
DR Antibodypedia; 16341; 67 antibodies from 17 providers.
DR DNASU; 124626; -.
DR Ensembl; ENST00000348931.9; ENSP00000335384.5; ENSG00000186075.13. [Q6X784-1]
DR Ensembl; ENST00000377940.3; ENSP00000367174.3; ENSG00000186075.13. [Q6X784-2]
DR GeneID; 124626; -.
DR KEGG; hsa:124626; -.
DR MANE-Select; ENST00000348931.9; ENSP00000335384.5; NM_199321.3; NP_955353.1.
DR UCSC; uc002hte.4; human. [Q6X784-1]
DR CTD; 124626; -.
DR DisGeNET; 124626; -.
DR GeneCards; ZPBP2; -.
DR HGNC; HGNC:20678; ZPBP2.
DR HPA; ENSG00000186075; Tissue enriched (testis).
DR MIM; 608499; gene.
DR neXtProt; NX_Q6X784; -.
DR OpenTargets; ENSG00000186075; -.
DR PharmGKB; PA134894503; -.
DR VEuPathDB; HostDB:ENSG00000186075; -.
DR eggNOG; ENOG502R75S; Eukaryota.
DR GeneTree; ENSGT00520000055647; -.
DR InParanoid; Q6X784; -.
DR OMA; CHFVKIP; -.
DR OrthoDB; 1069241at2759; -.
DR PhylomeDB; Q6X784; -.
DR TreeFam; TF335677; -.
DR PathwayCommons; Q6X784; -.
DR SignaLink; Q6X784; -.
DR BioGRID-ORCS; 124626; 36 hits in 1060 CRISPR screens.
DR GenomeRNAi; 124626; -.
DR Pharos; Q6X784; Tbio.
DR PRO; PR:Q6X784; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q6X784; protein.
DR Bgee; ENSG00000186075; Expressed in sperm and 44 other tissues.
DR ExpressionAtlas; Q6X784; baseline and differential.
DR Genevisible; Q6X784; HS.
DR GO; GO:0001669; C:acrosomal vesicle; IBA:GO_Central.
DR GO; GO:0044297; C:cell body; IEA:Ensembl.
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 GO; GO:0032922; P:circadian regulation of gene expression; IEA:Ensembl.
DR GO; GO:0046466; P:membrane lipid catabolic process; IEA:Ensembl.
DR GO; GO:0002638; P:negative regulation of immunoglobulin production; IEA:Ensembl.
DR GO; GO:0006665; P:sphingolipid metabolic process; IEA:Ensembl.
DR Gene3D; 2.60.40.10; -; 1.
DR InterPro; IPR007110; Ig-like_dom.
DR InterPro; IPR013783; Ig-like_fold.
DR InterPro; IPR010857; Sp38-bd.
DR PANTHER; PTHR15443; PTHR15443; 1.
DR Pfam; PF07354; Sp38; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Cytoplasmic vesicle; Glycoprotein;
KW Reference proteome; Secreted; Signal.
FT SIGNAL 1..20
FT /evidence="ECO:0000255"
FT CHAIN 21..338
FT /note="Zona pellucida-binding protein 2"
FT /id="PRO_0000041601"
FT CARBOHYD 87
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 221
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 257
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 309
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 18..39
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334, ECO:0000303|Ref.1"
FT /id="VSP_011683"
FT VARIANT 68
FT /note="P -> A (in dbSNP:rs35591738)"
FT /id="VAR_053747"
FT VARIANT 69
FT /note="T -> I (in dbSNP:rs189660050)"
FT /evidence="ECO:0000269|PubMed:21594610"
FT /id="VAR_067003"
FT VARIANT 118
FT /note="A -> T (in dbSNP:rs35829084)"
FT /id="VAR_053748"
FT VARIANT 173
FT /note="S -> I (in dbSNP:rs11557467)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_053749"
FT VARIANT 335
FT /note="Q -> E (in dbSNP:rs35302660)"
FT /id="VAR_053750"
SQ SEQUENCE 338 AA; 38652 MW; 5D5E271EAB9F3D47 CRC64;
MMRTCVLLSA VLWCLTGVQC PRFTLFNKKG FIYGKTGQPD KIYVELHQNS PVLICMDFKL
SKKEIVDPTY LWIGPNEKTL TGNNRINITE TGQLMVKDFL EPLSGLYTCT LSYKTVKAET
QEEKTVKKRY DFMVFAYREP DYSYQMAVRF TTRSCIGRYN DVFFRVLKKI LDSLISDLSC
HVIEPSYKCH SVEIPEHGLI HELFIAFQVN PFAPGWKGAC NGSVDCEDTT NHNILQARDR
IEDFFRSQAY IFYHNFNKTL PAMHFVDHSL QVVRLDSCRP GFGKNERLHS NCASCCVVCS
PATFSPDVNV TCQTCVSVLT YGAKSCPQTS NKNQQYED
