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Protein

Glypican-6

Gene

GPC6

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

Functioni

Cell surface proteoglycan that bears heparan sulfate. Putative cell surface coreceptor for growth factors, extracellular matrix proteins, proteases and anti-proteases (By similarity). Enhances migration and invasion of cancer cells through WNT5A signaling.By similarity1 Publication

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Enzyme and pathway databases

ReactomeiR-HSA-1971475. A tetrasaccharide linker sequence is required for GAG synthesis.
R-HSA-2022928. HS-GAG biosynthesis.
R-HSA-2024096. HS-GAG degradation.
R-HSA-3560783. Defective B4GALT7 causes EDS, progeroid type.
R-HSA-3560801. Defective B3GAT3 causes JDSSDHD.
R-HSA-3656237. Defective EXT2 causes exostoses 2.
R-HSA-3656253. Defective EXT1 causes exostoses 1, TRPS2 and CHDS.
R-HSA-4420332. Defective B3GALT6 causes EDSP2 and SEMDJL1.
R-HSA-975634. Retinoid metabolism and transport.

Names & Taxonomyi

Protein namesi
Recommended name:
Glypican-6
Cleaved into the following chain:
Gene namesi
Name:GPC6
ORF Names:UNQ369/PRO705
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 13

Organism-specific databases

HGNCiHGNC:4454. GPC6.

Subcellular locationi

GO - Cellular componenti

  • anchored component of membrane Source: UniProtKB-KW
  • extracellular space Source: UniProtKB-SubCell
  • Golgi lumen Source: Reactome
  • integral component of plasma membrane Source: ProtInc
  • lysosomal lumen Source: Reactome
  • nucleus Source: UniProtKB
  • plasma membrane Source: Reactome
  • proteinaceous extracellular matrix Source: InterPro
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane, Secreted

Pathology & Biotechi

Involvement in diseasei

Omodysplasia 1 (OMOD1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry. Point mutations leading to protein truncation, as well as larger genomic rearrangements resulting in exon deletions, have been found in family segregating omodysplasia type 1. All mutations identified in individuals affected by omodysplasia could lead to the absence of a functional protein, the mutant RNAs being suspected to be nonsense-mediated mRNA decay (NMD) targets. Even if the mRNA escapes NMD and is translated, all mutations are expected to disrupt the three-dimensional protein structure and often to abolish multiple highly conserved cysteine residues.
Disease descriptionA rare autosomal recessive skeletal dysplasia characterized by facial dysmorphism and severe congenital micromelia with shortening and distal tapering of the humeri and femora, to give a club-like appearance. Typical facial features include a prominent forehead, frontal bossing, short nose with a depressed broad bridge, short columella, anteverted nostrils, long philtrum, and small chin.
See also OMIM:258315

Keywords - Diseasei

Dwarfism

Organism-specific databases

MalaCardsiGPC6.
MIMi258315. phenotype.
Orphaneti93329. Autosomal recessive omodysplasia.
PharmGKBiPA28835.

Polymorphism and mutation databases

BioMutaiGPC6.
DMDMi9973298.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2323Sequence analysisAdd
BLAST
Chaini24 – 529506Glypican-6PRO_0000012323Add
BLAST
Chaini24 – ?Secreted glypican-6PRO_0000333851
Propeptidei530 – 55526Removed in mature formSequence analysisPRO_0000012324Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Lipidationi529 – 5291GPI-anchor amidated serineSequence analysis

Keywords - PTMi

Glycoprotein, GPI-anchor, Heparan sulfate, Lipoprotein, Proteoglycan

Proteomic databases

EPDiQ9Y625.
MaxQBiQ9Y625.
PaxDbiQ9Y625.
PeptideAtlasiQ9Y625.
PRIDEiQ9Y625.

PTM databases

iPTMnetiQ9Y625.
PhosphoSiteiQ9Y625.

Expressioni

Tissue specificityi

Widely expressed. High expression in fetal kidney and lung and lower expressions in fetal liver and brain. In adult tissues, very abundant in ovary, high levels also observed in liver, kidney, small intestine and colon. Not detected in peripheral blood leukocytes. Detected in breast cancer cells (at protein level).2 Publications

Inductioni

Expression is induced by NFATC2.1 Publication

Gene expression databases

BgeeiENSG00000183098.
CleanExiHS_GPC6.
ExpressionAtlasiQ9Y625. baseline and differential.
GenevisibleiQ9Y625. HS.

Organism-specific databases

HPAiHPA017671.

Interactioni

Protein-protein interaction databases

BioGridi115391. 12 interactions.
IntActiQ9Y625. 3 interactions.
STRINGi9606.ENSP00000366246.

Structurei

3D structure databases

ProteinModelPortaliQ9Y625.
SMRiQ9Y625. Positions 27-482.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the glypican family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiKOG3821. Eukaryota.
ENOG410XST2. LUCA.
GeneTreeiENSGT00550000074430.
HOGENOMiHOG000253003.
HOVERGENiHBG003464.
InParanoidiQ9Y625.
KOiK08112.
OMAiYAICKDE.
OrthoDBiEOG091G06T6.
PhylomeDBiQ9Y625.
TreeFamiTF105317.

Family and domain databases

InterProiIPR001863. Glypican.
IPR031183. Glypican-6.
IPR019803. Glypican_CS.
[Graphical view]
PANTHERiPTHR10822. PTHR10822. 1 hit.
PTHR10822:SF31. PTHR10822:SF31. 1 hit.
PfamiPF01153. Glypican. 1 hit.
[Graphical view]
PROSITEiPS01207. GLYPICAN. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

Q9Y625-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MPSWIGAVIL PLLGLLLSLP AGADVKARSC GEVRQAYGAK GFSLADIPYQ
60 70 80 90 100
EIAGEHLRIC PQEYTCCTTE MEDKLSQQSK LEFENLVEET SHFVRTTFVS
110 120 130 140 150
RHKKFDEFFR ELLENAEKSL NDMFVRTYGM LYMQNSEVFQ DLFTELKRYY
160 170 180 190 200
TGGNVNLEEM LNDFWARLLE RMFQLINPQY HFSEDYLECV SKYTDQLKPF
210 220 230 240 250
GDVPRKLKIQ VTRAFIAART FVQGLTVGRE VANRVSKVSP TPGCIRALMK
260 270 280 290 300
MLYCPYCRGL PTVRPCNNYC LNVMKGCLAN QADLDTEWNL FIDAMLLVAE
310 320 330 340 350
RLEGPFNIES VMDPIDVKIS EAIMNMQENS MQVSAKVFQG CGQPKPAPAL
360 370 380 390 400
RSARSAPENF NTRFRPYNPE ERPTTAAGTS LDRLVTDIKE KLKLSKKVWS
410 420 430 440 450
ALPYTICKDE SVTAGTSNEE ECWNGHSKAR YLPEIMNDGL TNQINNPEVD
460 470 480 490 500
VDITRPDTFI RQQIMALRVM TNKLKNAYNG NDVNFQDTSD ESSGSGSGSG
510 520 530 540 550
CMDDVCPTEF EFVTTEAPAV DPDRREVDSS AAQRGHSLLS WSLTCIVLAL

QRLCR
Length:555
Mass (Da):62,736
Last modified:November 1, 1999 - v1
Checksum:iD3D01480FF9C4152
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti15 – 151L → P in BAF82833 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti412 – 4121V → M.1 Publication
Corresponds to variant rs1535692 [ dbSNP | Ensembl ].
VAR_024229

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF111178 mRNA. Translation: AAD31392.1.
AF105267 mRNA. Translation: AAD55749.1.
AY358462 mRNA. Translation: AAQ88827.1.
BC106947 mRNA. Translation: AAI06948.1.
AK290144 mRNA. Translation: BAF82833.1.
AL139798
, AL137144, AL160036, AL162455, AL354811, AL161426 Genomic DNA. Translation: CAC39445.2.
AL160036
, AL137144, AL354811, AL162455, AL161426, AL139798 Genomic DNA. Translation: CAI15668.1.
AL161426
, AL354811, AL162455, AL160036, AL139798, AL137144 Genomic DNA. Translation: CAH71606.1.
AL162455
, AL354811, AL161426, AL160036, AL139798, AL137144 Genomic DNA. Translation: CAC40695.2.
AL354811
, AL162455, AL161426, AL160036, AL139798, AL137144 Genomic DNA. Translation: CAC21820.2.
AL137144
, AL354811, AL162455, AL161426, AL160036, AL139798 Genomic DNA. Translation: CAH71332.1.
CCDSiCCDS9469.1.
RefSeqiNP_005699.1. NM_005708.3.
UniGeneiHs.444329.
Hs.615434.

Genome annotation databases

EnsembliENST00000377047; ENSP00000366246; ENSG00000183098.
GeneIDi10082.
KEGGihsa:10082.
UCSCiuc001vlt.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF111178 mRNA. Translation: AAD31392.1.
AF105267 mRNA. Translation: AAD55749.1.
AY358462 mRNA. Translation: AAQ88827.1.
BC106947 mRNA. Translation: AAI06948.1.
AK290144 mRNA. Translation: BAF82833.1.
AL139798
, AL137144, AL160036, AL162455, AL354811, AL161426 Genomic DNA. Translation: CAC39445.2.
AL160036
, AL137144, AL354811, AL162455, AL161426, AL139798 Genomic DNA. Translation: CAI15668.1.
AL161426
, AL354811, AL162455, AL160036, AL139798, AL137144 Genomic DNA. Translation: CAH71606.1.
AL162455
, AL354811, AL161426, AL160036, AL139798, AL137144 Genomic DNA. Translation: CAC40695.2.
AL354811
, AL162455, AL161426, AL160036, AL139798, AL137144 Genomic DNA. Translation: CAC21820.2.
AL137144
, AL354811, AL162455, AL161426, AL160036, AL139798 Genomic DNA. Translation: CAH71332.1.
CCDSiCCDS9469.1.
RefSeqiNP_005699.1. NM_005708.3.
UniGeneiHs.444329.
Hs.615434.

3D structure databases

ProteinModelPortaliQ9Y625.
SMRiQ9Y625. Positions 27-482.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115391. 12 interactions.
IntActiQ9Y625. 3 interactions.
STRINGi9606.ENSP00000366246.

PTM databases

iPTMnetiQ9Y625.
PhosphoSiteiQ9Y625.

Polymorphism and mutation databases

BioMutaiGPC6.
DMDMi9973298.

Proteomic databases

EPDiQ9Y625.
MaxQBiQ9Y625.
PaxDbiQ9Y625.
PeptideAtlasiQ9Y625.
PRIDEiQ9Y625.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000377047; ENSP00000366246; ENSG00000183098.
GeneIDi10082.
KEGGihsa:10082.
UCSCiuc001vlt.4. human.

Organism-specific databases

CTDi10082.
GeneCardsiGPC6.
HGNCiHGNC:4454. GPC6.
HPAiHPA017671.
MalaCardsiGPC6.
MIMi258315. phenotype.
604404. gene.
neXtProtiNX_Q9Y625.
Orphaneti93329. Autosomal recessive omodysplasia.
PharmGKBiPA28835.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3821. Eukaryota.
ENOG410XST2. LUCA.
GeneTreeiENSGT00550000074430.
HOGENOMiHOG000253003.
HOVERGENiHBG003464.
InParanoidiQ9Y625.
KOiK08112.
OMAiYAICKDE.
OrthoDBiEOG091G06T6.
PhylomeDBiQ9Y625.
TreeFamiTF105317.

Enzyme and pathway databases

ReactomeiR-HSA-1971475. A tetrasaccharide linker sequence is required for GAG synthesis.
R-HSA-2022928. HS-GAG biosynthesis.
R-HSA-2024096. HS-GAG degradation.
R-HSA-3560783. Defective B4GALT7 causes EDS, progeroid type.
R-HSA-3560801. Defective B3GAT3 causes JDSSDHD.
R-HSA-3656237. Defective EXT2 causes exostoses 2.
R-HSA-3656253. Defective EXT1 causes exostoses 1, TRPS2 and CHDS.
R-HSA-4420332. Defective B3GALT6 causes EDSP2 and SEMDJL1.
R-HSA-975634. Retinoid metabolism and transport.

Miscellaneous databases

ChiTaRSiGPC6. human.
GeneWikiiGlypican_6.
GenomeRNAii10082.
PROiQ9Y625.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000183098.
CleanExiHS_GPC6.
ExpressionAtlasiQ9Y625. baseline and differential.
GenevisibleiQ9Y625. HS.

Family and domain databases

InterProiIPR001863. Glypican.
IPR031183. Glypican-6.
IPR019803. Glypican_CS.
[Graphical view]
PANTHERiPTHR10822. PTHR10822. 1 hit.
PTHR10822:SF31. PTHR10822:SF31. 1 hit.
PfamiPF01153. Glypican. 1 hit.
[Graphical view]
PROSITEiPS01207. GLYPICAN. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiGPC6_HUMAN
AccessioniPrimary (citable) accession number: Q9Y625
Secondary accession number(s): A8K279
, Q96SG5, Q96SG8, Q9H1P4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: November 1, 1999
Last modified: September 7, 2016
This is version 131 of the entry and version 1 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 13
    Human chromosome 13: 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.