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Q8TCW7

- ZPLD1_HUMAN

UniProt

Q8TCW7 - ZPLD1_HUMAN

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Protein

Zona pellucida-like domain-containing protein 1

Gene

ZPLD1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Zona pellucida-like domain-containing protein 1
Short name:
ZP domain-containing protein 1
Gene namesi
Name:ZPLD1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 3

Organism-specific databases

HGNCiHGNC:27022. ZPLD1.

Subcellular locationi

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142670472.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 1919Sequence AnalysisAdd
BLAST
Chaini20 – 415396Zona pellucida-like domain-containing protein 1PRO_0000307284Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi121 – 1211N-linked (GlcNAc...)Sequence Analysis
Glycosylationi164 – 1641N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi235 ↔ 296By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ8TCW7.
PRIDEiQ8TCW7.

Expressioni

Tissue specificityi

Detected in placenta, kidney, lung, pancreas and at very low level in other tissues.1 Publication

Gene expression databases

BgeeiQ8TCW7.
CleanExiHS_ZPLD1.
GenevestigatoriQ8TCW7.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000307801.

Structurei

3D structure databases

ProteinModelPortaliQ8TCW7.
SMRiQ8TCW7. Positions 187-319.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini20 – 372353ExtracellularSequence AnalysisAdd
BLAST
Topological domaini394 – 41522CytoplasmicSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei373 – 39321HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini43 – 320278ZPPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 1 ZP domain.PROSITE-ProRule annotation

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG25201.
GeneTreeiENSGT00530000063315.
HOGENOMiHOG000136343.
HOVERGENiHBG108778.
InParanoidiQ8TCW7.
OMAiVQATNLD.
OrthoDBiEOG7SV0VC.
PhylomeDBiQ8TCW7.
TreeFamiTF329882.

Family and domain databases

InterProiIPR001507. ZP_dom.
[Graphical view]
PfamiPF00100. Zona_pellucida. 1 hit.
[Graphical view]
SMARTiSM00241. ZP. 1 hit.
[Graphical view]
PROSITEiPS51034. ZP_2. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q8TCW7-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MEQIWLLLLL TIRVLPGSAQ FNGYNCDANL HSRFPAERDI SVYCGVQAIT
60 70 80 90 100
MKINFCTVLF SGYSETDLAL NGRHGDSHCR GFINNNTFPA VVIFIINLST
110 120 130 140 150
LEGCGNNLVV STIPGVSAYG NATSVQVGNI SGYIDTPDPP TIISYLPGLL
160 170 180 190 200
YKFSCSYPLE YLVNNTQLAS SSAAISVREN NGTFVSTLNL LLYNDSTYNQ
210 220 230 240 250
QLIIPSIGLP LKTKVFAAVQ ATNLDGRWNV LMDYCYTTPS GNPNDDIRYD
260 270 280 290 300
LFLSCDKDPQ TTVIENGRSQ RGRFSFEVFR FVKHKNQKMS TVFLHCVTKL
310 320 330 340 350
CRADDCPFLM PICSHRERRD AGRRTTWSPQ SSSGSAVLSA GPIITRSDET
360 370 380 390 400
PTNNSQLGSP SMPPFQLNAI TSALISGMVI LGVTSFSLLL CSLALLHRKG
410
PTSLVLNGIR NPVFD
Length:415
Mass (Da):45,530
Last modified:October 23, 2007 - v2
Checksum:i7473CB023438EAB3
GO
Isoform 2 (identifier: Q8TCW7-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MMLRFSMCRGNDEGFAM

Show »
Length:431
Mass (Da):47,377
Checksum:iD7B0649DC9BAC073
GO

Sequence cautioni

The sequence EAW79766.1 differs from that shown. Reason: Erroneous gene model prediction.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti242 – 2421N → S in AAH31261. (PubMed:15489334)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti12 – 121I → F.
Corresponds to variant rs6784362 [ dbSNP | Ensembl ].
VAR_035400
Natural varianti29 – 291N → S.
Corresponds to variant rs6784389 [ dbSNP | Ensembl ].
VAR_035401
Natural varianti197 – 1971T → A.
Corresponds to variant rs12054046 [ dbSNP | Ensembl ].
VAR_035402

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 11M → MMLRFSMCRGNDEGFAM in isoform 2. 1 PublicationVSP_037072

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY090780 mRNA. Translation: AAM09816.1.
CH471052 Genomic DNA. Translation: EAW79766.1. Sequence problems.
BC021279 mRNA. Translation: AAH21279.2.
BC031261 mRNA. Translation: AAH31261.1.
CCDSiCCDS2947.1. [Q8TCW7-2]
RefSeqiNP_778226.1. NM_175056.1. [Q8TCW7-2]
XP_005247167.1. XM_005247110.1. [Q8TCW7-1]
UniGeneiHs.352213.

Genome annotation databases

EnsembliENST00000306176; ENSP00000307801; ENSG00000170044. [Q8TCW7-2]
ENST00000466937; ENSP00000418253; ENSG00000170044. [Q8TCW7-1]
ENST00000491959; ENSP00000420265; ENSG00000170044. [Q8TCW7-1]
GeneIDi131368.
KEGGihsa:131368.
UCSCiuc003dvs.1. human. [Q8TCW7-1]
uc003dvt.1. human. [Q8TCW7-2]

Polymorphism databases

DMDMi160221311.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY090780 mRNA. Translation: AAM09816.1 .
CH471052 Genomic DNA. Translation: EAW79766.1 . Sequence problems.
BC021279 mRNA. Translation: AAH21279.2 .
BC031261 mRNA. Translation: AAH31261.1 .
CCDSi CCDS2947.1. [Q8TCW7-2 ]
RefSeqi NP_778226.1. NM_175056.1. [Q8TCW7-2 ]
XP_005247167.1. XM_005247110.1. [Q8TCW7-1 ]
UniGenei Hs.352213.

3D structure databases

ProteinModelPortali Q8TCW7.
SMRi Q8TCW7. Positions 187-319.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000307801.

Polymorphism databases

DMDMi 160221311.

Proteomic databases

PaxDbi Q8TCW7.
PRIDEi Q8TCW7.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000306176 ; ENSP00000307801 ; ENSG00000170044 . [Q8TCW7-2 ]
ENST00000466937 ; ENSP00000418253 ; ENSG00000170044 . [Q8TCW7-1 ]
ENST00000491959 ; ENSP00000420265 ; ENSG00000170044 . [Q8TCW7-1 ]
GeneIDi 131368.
KEGGi hsa:131368.
UCSCi uc003dvs.1. human. [Q8TCW7-1 ]
uc003dvt.1. human. [Q8TCW7-2 ]

Organism-specific databases

CTDi 131368.
GeneCardsi GC03P101818.
HGNCi HGNC:27022. ZPLD1.
MIMi 615915. gene.
neXtProti NX_Q8TCW7.
PharmGKBi PA142670472.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG25201.
GeneTreei ENSGT00530000063315.
HOGENOMi HOG000136343.
HOVERGENi HBG108778.
InParanoidi Q8TCW7.
OMAi VQATNLD.
OrthoDBi EOG7SV0VC.
PhylomeDBi Q8TCW7.
TreeFami TF329882.

Miscellaneous databases

GenomeRNAii 131368.
NextBioi 82892.
PROi Q8TCW7.
SOURCEi Search...

Gene expression databases

Bgeei Q8TCW7.
CleanExi HS_ZPLD1.
Genevestigatori Q8TCW7.

Family and domain databases

InterProi IPR001507. ZP_dom.
[Graphical view ]
Pfami PF00100. Zona_pellucida. 1 hit.
[Graphical view ]
SMARTi SM00241. ZP. 1 hit.
[Graphical view ]
PROSITEi PS51034. ZP_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Zhu P.Y., Huang Y.F.
    Submitted (MAR-2002) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
    Tissue: Testis.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Eye and Testis.
  4. "ZPLD1 gene is disrupted in a patient with balanced translocation that exhibits cerebral cavernous malformations."
    Gianfrancesco F., Esposito T., Penco S., Maglione V., Liquori C.L., Patrosso M.C., Zuffardi O., Ciccodicola A., Marchuk D.A., Squitieri F.
    Neuroscience 155:345-349(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY.

Entry informationi

Entry nameiZPLD1_HUMAN
AccessioniPrimary (citable) accession number: Q8TCW7
Secondary accession number(s): Q49AS1, Q8WU36
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 23, 2007
Last sequence update: October 23, 2007
Last modified: October 29, 2014
This is version 75 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3