ZPLD1_HUMAN
ID ZPLD1_HUMAN Reviewed; 415 AA.
AC Q8TCW7; Q49AS1; Q8WU36;
DT 23-OCT-2007, integrated into UniProtKB/Swiss-Prot.
DT 23-OCT-2007, sequence version 2.
DT 03-AUG-2022, entry version 121.
DE RecName: Full=Zona pellucida-like domain-containing protein 1;
DE Short=ZP domain-containing protein 1;
DE AltName: Full=Cupulin {ECO:0000250|UniProtKB:C0H9B6};
DE Contains:
DE RecName: Full=Zona pellucida-like domain-containing protein 1, secreted form {ECO:0000250|UniProtKB:C0H9B6};
DE Flags: Precursor;
GN Name=ZPLD1;
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 2).
RC TISSUE=Testis;
RA Zhu P.Y., Huang Y.F.;
RL Submitted (MAR-2002) to the EMBL/GenBank/DDBJ databases.
RN [2]
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Eye, and 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 TISSUE SPECIFICITY.
RX PubMed=18632209; DOI=10.1016/j.neuroscience.2008.05.030;
RA Gianfrancesco F., Esposito T., Penco S., Maglione V., Liquori C.L.,
RA Patrosso M.C., Zuffardi O., Ciccodicola A., Marchuk D.A., Squitieri F.;
RT "ZPLD1 gene is disrupted in a patient with balanced translocation that
RT exhibits cerebral cavernous malformations.";
RL Neuroscience 155:345-349(2008).
CC -!- FUNCTION: Glycoprotein which is a component of the gelatinous
CC extracellular matrix in the cupulae of the vestibular organ.
CC {ECO:0000250|UniProtKB:C0H9B6}.
CC -!- SUBCELLULAR LOCATION: [Zona pellucida-like domain-containing protein
CC 1]: Cytoplasmic vesicle membrane {ECO:0000250|UniProtKB:C0H9B6};
CC Single-pass type I membrane protein {ECO:0000255}.
CC -!- SUBCELLULAR LOCATION: [Zona pellucida-like domain-containing protein 1,
CC secreted form]: Secreted, extracellular space, extracellular matrix
CC {ECO:0000250|UniProtKB:C0H9B6}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8TCW7-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8TCW7-2; Sequence=VSP_037072;
CC -!- TISSUE SPECIFICITY: Detected in placenta, kidney, lung, pancreas and at
CC very low level in other tissues. {ECO:0000269|PubMed:18632209}.
CC -!- PTM: Proteolytically cleaved before the transmembrane segment to yield
CC the secreted form found in the extracellular matrix of the cupula.
CC {ECO:0000250|UniProtKB:C0H9B6}.
CC -!- SEQUENCE CAUTION:
CC Sequence=EAW79766.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
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DR EMBL; AY090780; AAM09816.1; -; mRNA.
DR EMBL; CH471052; EAW79766.1; ALT_SEQ; Genomic_DNA.
DR EMBL; BC021279; AAH21279.2; -; mRNA.
DR EMBL; BC031261; AAH31261.1; -; mRNA.
DR CCDS; CCDS2947.1; -. [Q8TCW7-2]
DR CCDS; CCDS87115.1; -. [Q8TCW7-1]
DR RefSeq; NP_001316717.1; NM_001329788.1. [Q8TCW7-1]
DR RefSeq; NP_778226.1; NM_175056.1. [Q8TCW7-2]
DR RefSeq; XP_016861192.1; XM_017005703.1. [Q8TCW7-1]
DR RefSeq; XP_016861193.1; XM_017005704.1. [Q8TCW7-1]
DR AlphaFoldDB; Q8TCW7; -.
DR SMR; Q8TCW7; -.
DR BioGRID; 126276; 21.
DR IntAct; Q8TCW7; 10.
DR STRING; 9606.ENSP00000307801; -.
DR GlyGen; Q8TCW7; 2 sites.
DR PhosphoSitePlus; Q8TCW7; -.
DR BioMuta; ZPLD1; -.
DR DMDM; 160221311; -.
DR MassIVE; Q8TCW7; -.
DR PaxDb; Q8TCW7; -.
DR PeptideAtlas; Q8TCW7; -.
DR PRIDE; Q8TCW7; -.
DR Antibodypedia; 32313; 95 antibodies from 18 providers.
DR DNASU; 131368; -.
DR Ensembl; ENST00000306176.5; ENSP00000307801.1; ENSG00000170044.9. [Q8TCW7-2]
DR Ensembl; ENST00000466937.2; ENSP00000418253.1; ENSG00000170044.9. [Q8TCW7-1]
DR Ensembl; ENST00000491959.5; ENSP00000420265.1; ENSG00000170044.9. [Q8TCW7-1]
DR GeneID; 131368; -.
DR KEGG; hsa:131368; -.
DR MANE-Select; ENST00000466937.2; ENSP00000418253.1; NM_001329788.2; NP_001316717.1.
DR UCSC; uc003dvs.2; human. [Q8TCW7-1]
DR CTD; 131368; -.
DR DisGeNET; 131368; -.
DR GeneCards; ZPLD1; -.
DR HGNC; HGNC:27022; ZPLD1.
DR HPA; ENSG00000170044; Tissue enhanced (brain, gallbladder, retina).
DR MIM; 615915; gene.
DR neXtProt; NX_Q8TCW7; -.
DR OpenTargets; ENSG00000170044; -.
DR PharmGKB; PA142670472; -.
DR VEuPathDB; HostDB:ENSG00000170044; -.
DR eggNOG; ENOG502QQQ1; Eukaryota.
DR GeneTree; ENSGT00940000156527; -.
DR HOGENOM; CLU_045259_2_0_1; -.
DR InParanoid; Q8TCW7; -.
DR OrthoDB; 692009at2759; -.
DR PhylomeDB; Q8TCW7; -.
DR TreeFam; TF329882; -.
DR PathwayCommons; Q8TCW7; -.
DR SignaLink; Q8TCW7; -.
DR BioGRID-ORCS; 131368; 11 hits in 1066 CRISPR screens.
DR ChiTaRS; ZPLD1; human.
DR GenomeRNAi; 131368; -.
DR Pharos; Q8TCW7; Tbio.
DR PRO; PR:Q8TCW7; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; Q8TCW7; protein.
DR Bgee; ENSG00000170044; Expressed in secondary oocyte and 54 other tissues.
DR Genevisible; Q8TCW7; HS.
DR GO; GO:0009986; C:cell surface; IBA:GO_Central.
DR GO; GO:0030659; C:cytoplasmic vesicle membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0005615; C:extracellular space; IBA:GO_Central.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005201; F:extracellular matrix structural constituent; IBA:GO_Central.
DR GO; GO:0060005; P:vestibular reflex; IEA:Ensembl.
DR Gene3D; 2.60.40.4100; -; 1.
DR InterPro; IPR042235; ZP-C.
DR InterPro; IPR001507; ZP_dom.
DR Pfam; PF00100; Zona_pellucida; 1.
DR SMART; SM00241; ZP; 1.
DR PROSITE; PS51034; ZP_2; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Cytoplasmic vesicle; Disulfide bond;
KW Extracellular matrix; Glycoprotein; Membrane; Reference proteome; Secreted;
KW Signal; Transmembrane; Transmembrane helix.
FT SIGNAL 1..19
FT /evidence="ECO:0000255"
FT CHAIN 20..415
FT /note="Zona pellucida-like domain-containing protein 1"
FT /id="PRO_0000307284"
FT CHAIN 20..319
FT /note="Zona pellucida-like domain-containing protein 1,
FT secreted form"
FT /evidence="ECO:0000305"
FT /id="PRO_0000441814"
FT TOPO_DOM 20..372
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 373..393
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 394..415
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT DOMAIN 43..320
FT /note="ZP"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00375"
FT REGION 323..360
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 325..360
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT SITE 319..320
FT /note="Cleavage"
FT /evidence="ECO:0000250|UniProtKB:P10761"
FT CARBOHYD 121
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 164
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 44..155
FT /evidence="ECO:0000250|UniProtKB:P10761"
FT DISULFID 79..104
FT /evidence="ECO:0000250|UniProtKB:P10761"
FT DISULFID 235..296
FT /evidence="ECO:0000250|UniProtKB:P10761"
FT DISULFID 255..313
FT /evidence="ECO:0000250|UniProtKB:P10761"
FT VAR_SEQ 1
FT /note="M -> MMLRFSMCRGNDEGFAM (in isoform 2)"
FT /evidence="ECO:0000303|Ref.1"
FT /id="VSP_037072"
FT VARIANT 12
FT /note="I -> F (in dbSNP:rs6784362)"
FT /id="VAR_035400"
FT VARIANT 29
FT /note="N -> S (in dbSNP:rs6784389)"
FT /id="VAR_035401"
FT VARIANT 197
FT /note="T -> A (in dbSNP:rs12054046)"
FT /id="VAR_035402"
FT CONFLICT 242
FT /note="N -> S (in Ref. 3; AAH31261)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 415 AA; 45530 MW; 7473CB023438EAB3 CRC64;
MEQIWLLLLL TIRVLPGSAQ FNGYNCDANL HSRFPAERDI SVYCGVQAIT MKINFCTVLF
SGYSETDLAL NGRHGDSHCR GFINNNTFPA VVIFIINLST LEGCGNNLVV STIPGVSAYG
NATSVQVGNI SGYIDTPDPP TIISYLPGLL YKFSCSYPLE YLVNNTQLAS SSAAISVREN
NGTFVSTLNL LLYNDSTYNQ QLIIPSIGLP LKTKVFAAVQ ATNLDGRWNV LMDYCYTTPS
GNPNDDIRYD LFLSCDKDPQ TTVIENGRSQ RGRFSFEVFR FVKHKNQKMS TVFLHCVTKL
CRADDCPFLM PICSHRERRD AGRRTTWSPQ SSSGSAVLSA GPIITRSDET PTNNSQLGSP
SMPPFQLNAI TSALISGMVI LGVTSFSLLL CSLALLHRKG PTSLVLNGIR NPVFD
