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Protein

Vitamin K-dependent gamma-carboxylase

Gene

GGCX

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Mediates the vitamin K-dependent carboxylation of glutamate residues to calcium-binding gamma-carboxyglutamate (Gla) residues with the concomitant conversion of the reduced hydroquinone form of vitamin K to vitamin K epoxide.1 Publication

Miscellaneous

The vitamin K-dependent protein substrates of carboxylase have usually a propeptide that binds to a high-affinity site on the carboxylase. CO2, O2 and reduced vitamin K are cosubstrates.

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the ‘Function’ section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>pH dependencei

Optimum pH is 7.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei218Proton acceptor1 Publication1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

  • blood coagulation Source: ProtInc
  • cellular protein modification process Source: ProtInc
  • peptidyl-glutamic acid carboxylation Source: Reactome

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionLyase

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...
BioCyci
MetaCyc:HS03897-MONOMER

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
4.1.1.90 2681

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-159740 Gamma-carboxylation of protein precursors

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Vitamin K-dependent gamma-carboxylase (EC:4.1.1.901 Publication)
Alternative name(s):
Gamma-glutamyl carboxylase
Peptidyl-glutamate 4-carboxylase
Vitamin K gamma glutamyl carboxylase
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:GGCX
Synonyms:GC
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000115486.11

Human Gene Nomenclature Database

More...
HGNCi
HGNC:4247 GGCX

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
137167 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P38435

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini2 – 60CytoplasmicSequence analysisAdd BLAST59
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei61 – 81HelicalSequence analysisAdd BLAST21
Topological domaini82 – 113LumenalSequence analysisAdd BLAST32
Transmembranei114 – 134HelicalSequence analysisAdd BLAST21
Topological domaini135 – 136CytoplasmicSequence analysis2
Transmembranei137 – 157HelicalSequence analysisAdd BLAST21
Topological domaini158 – 292LumenalSequence analysisAdd BLAST135
Transmembranei293 – 313HelicalSequence analysisAdd BLAST21
Topological domaini314 – 361CytoplasmicSequence analysisAdd BLAST48
Transmembranei362 – 382HelicalSequence analysisAdd BLAST21
Topological domaini383 – 758LumenalSequence analysisAdd BLAST376

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Combined deficiency of vitamin K-dependent clotting factors 1 (VKCFD1)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionVKCFD leads to a bleeding tendency that is usually reversed by oral administration of vitamin K.
See also OMIM:277450
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_005781394L → R in VKCFD1; affects glutamate binding. 2 PublicationsCorresponds to variant dbSNP:rs121909675EnsemblClinVar.1
Natural variantiVAR_021826485R → P in VKCFD1. 1 PublicationCorresponds to variant dbSNP:rs121909676EnsemblClinVar.1
Natural variantiVAR_015218501W → S in VKCFD1. 1 PublicationCorresponds to variant dbSNP:rs28928872EnsemblClinVar.1
Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency (PXEL-MCFD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionCharacterized by hyperlaxity of the skin involving the entire body. Important phenotypic differences with classical PXE include much more severe skin laxity with spreading toward the trunk and limbs with thick, leathery skin folds rather than confinement to flexural areas, and no decrease in visual acuity. Moreover, detailed electron microscopic analyzes revealed that alterations of elastic fibers as well as their mineralization are slightly different from those in classic PXE.
See also OMIM:610842
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_032979299F → S in PXEL-MCFD. 1 PublicationCorresponds to variant dbSNP:rs121909677EnsemblClinVar.1
Natural variantiVAR_032980476R → C in PXEL-MCFD. 1 PublicationCorresponds to variant dbSNP:rs121909681EnsemblClinVar.1
Natural variantiVAR_032981476R → H in PXEL-MCFD. 1 PublicationCorresponds to variant dbSNP:rs121909682EnsemblClinVar.1
Natural variantiVAR_032982493W → S in PXEL-MCFD. 1 PublicationCorresponds to variant dbSNP:rs121909679EnsemblClinVar.1
Natural variantiVAR_032983558G → R in PXEL-MCFD. 1 PublicationCorresponds to variant dbSNP:rs121909678EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi160H → A: No effect on activity. 1 Publication1
Mutagenesisi218K → A: No activity. 1 Publication1
Mutagenesisi287H → A: No effect on activity. 1 Publication1
Mutagenesisi381H → A: No effect on activity. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
2677

MalaCards human disease database

More...
MalaCardsi
GGCX
MIMi277450 phenotype
610842 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000115486

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
91135 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
98434 Hereditary combined deficiency of vitamin K-dependent clotting factors
436274 Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA28660

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL2012

Drug and drug target database

More...
DrugBanki
DB01125 Anisindione
DB00100 Coagulation Factor IX (Recombinant)
DB00036 Coagulation factor VIIa Recombinant Human
DB00055 Drotrecogin alfa
DB00142 L-Glutamic Acid
DB00170 Menadione
DB01022 Phylloquinone

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
GGCX

Domain mapping of disease mutations (DMDM)

More...
DMDMi
84028279

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001918232 – 758Vitamin K-dependent gamma-carboxylaseAdd BLAST757

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylalanineCombined sources1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi99 ↔ 4501 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi459N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi550N-linked (GlcNAc...) asparagine1 Publication1

Keywords - PTMi

Acetylation, Disulfide bond, Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
P38435

MaxQB - The MaxQuant DataBase

More...
MaxQBi
P38435

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
P38435

PeptideAtlas

More...
PeptideAtlasi
P38435

PRoteomics IDEntifications database

More...
PRIDEi
P38435

ProteomicsDB human proteome resource

More...
ProteomicsDBi
55296

PTM databases

GlyConnect protein glycosylation platform

More...
GlyConnecti
1894

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P38435

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
P38435

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000115486 Expressed in 226 organ(s), highest expression level in oviduct epithelium

CleanEx database of gene expression profiles

More...
CleanExi
HS_GC
HS_GGCX

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P38435 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P38435 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA018284

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Monomer. May interact with CALU (By similarity).By similarity

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
108945, 16 interactors

Protein interaction database and analysis system

More...
IntActi
P38435, 20 interactors

Molecular INTeraction database

More...
MINTi
P38435

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000233838

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
P38435

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
P38435

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IHG2 Eukaryota
ENOG410XR5Q LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000014909

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000007593

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG012798

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P38435

KEGG Orthology (KO)

More...
KOi
K10106

Identification of Orthologs from Complete Genome Data

More...
OMAi
YWNYFLI

Database of Orthologous Groups

More...
OrthoDBi
EOG091G07P8

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P38435

TreeFam database of animal gene trees

More...
TreeFami
TF323879

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR011020 HTTM
IPR011051 RmlC_Cupin_sf
IPR007782 VKG_COase

The PANTHER Classification System

More...
PANTHERi
PTHR12639 PTHR12639, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF05090 VKG_Carbox, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00752 HTTM, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF51182 SSF51182, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P38435-1) [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
MAVSAGSART SPSSDKVQKD KAELISGPRQ DSRIGKLLGF EWTDLSSWRR
60 70 80 90 100
LVTLLNRPTD PASLAVFRFL FGFLMVLDIP QERGLSSLDR KYLDGLDVCR
110 120 130 140 150
FPLLDALRPL PLDWMYLVYT IMFLGALGMM LGLCYRISCV LFLLPYWYVF
160 170 180 190 200
LLDKTSWNNH SYLYGLLAFQ LTFMDANHYW SVDGLLNAHR RNAHVPLWNY
210 220 230 240 250
AVLRGQIFIV YFIAGVKKLD ADWVEGYSME YLSRHWLFSP FKLLLSEELT
260 270 280 290 300
SLLVVHWGGL LLDLSAGFLL FFDVSRSIGL FFVSYFHCMN SQLFSIGMFS
310 320 330 340 350
YVMLASSPLF CSPEWPRKLV SYCPRRLQQL LPLKAAPQPS VSCVYKRSRG
360 370 380 390 400
KSGQKPGLRH QLGAAFTLLY LLEQLFLPYS HFLTQGYNNW TNGLYGYSWD
410 420 430 440 450
MMVHSRSHQH VKITYRDGRT GELGYLNPGV FTQSRRWKDH ADMLKQYATC
460 470 480 490 500
LSRLLPKYNV TEPQIYFDIW VSINDRFQQR IFDPRVDIVQ AAWSPFQRTS
510 520 530 540 550
WVQPLLMDLS PWRAKLQEIK SSLDNHTEVV FIADFPGLHL ENFVSEDLGN
560 570 580 590 600
TSIQLLQGEV TVELVAEQKN QTLREGEKMQ LPAGEYHKVY TTSPSPSCYM
610 620 630 640 650
YVYVNTTELA LEQDLAYLQE LKEKVENGSE TGPLPPELQP LLEGEVKGGP
660 670 680 690 700
EPTPLVQTFL RRQQRLQEIE RRRNTPFHER FFRFLLRKLY VFRRSFLMTC
710 720 730 740 750
ISLRNLILGR PSLEQLAQEV TYANLRPFEA VGELNPSNTD SSHSNPPESN

PDPVHSEF
Length:758
Mass (Da):87,561
Last modified:December 20, 2005 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i720D5B08E9B558C8
GO
Isoform 2 (identifier: P38435-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     15-71: Missing.

Note: No experimental confirmation available.
Show »
Length:701
Mass (Da):80,989
Checksum:iCA7D806186E791B5
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8WDU9F8WDU9_HUMAN
Vitamin K-dependent gamma-carboxyla...
GGCX
123Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8WCF0F8WCF0_HUMAN
Vitamin K-dependent gamma-carboxyla...
GGCX
66Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8WB98F8WB98_HUMAN
Vitamin K-dependent gamma-carboxyla...
GGCX
73Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti400D → N in AAA91834 (Ref. 3) Curated1
Sequence conflicti659F → S in BAG59837 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_032979299F → S in PXEL-MCFD. 1 PublicationCorresponds to variant dbSNP:rs121909677EnsemblClinVar.1
Natural variantiVAR_005780325R → Q1 PublicationCorresponds to variant dbSNP:rs699664EnsemblClinVar.1
Natural variantiVAR_005781394L → R in VKCFD1; affects glutamate binding. 2 PublicationsCorresponds to variant dbSNP:rs121909675EnsemblClinVar.1
Natural variantiVAR_032980476R → C in PXEL-MCFD. 1 PublicationCorresponds to variant dbSNP:rs121909681EnsemblClinVar.1
Natural variantiVAR_032981476R → H in PXEL-MCFD. 1 PublicationCorresponds to variant dbSNP:rs121909682EnsemblClinVar.1
Natural variantiVAR_021826485R → P in VKCFD1. 1 PublicationCorresponds to variant dbSNP:rs121909676EnsemblClinVar.1
Natural variantiVAR_032982493W → S in PXEL-MCFD. 1 PublicationCorresponds to variant dbSNP:rs121909679EnsemblClinVar.1
Natural variantiVAR_015218501W → S in VKCFD1. 1 PublicationCorresponds to variant dbSNP:rs28928872EnsemblClinVar.1
Natural variantiVAR_032983558G → R in PXEL-MCFD. 1 PublicationCorresponds to variant dbSNP:rs121909678EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_04617915 – 71Missing in isoform 2. 1 PublicationAdd BLAST57

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
M81592 mRNA Translation: AAA58643.1
U65896 Genomic DNA Translation: AAB39832.1
L17128 mRNA Translation: AAA91834.1
AK297397 mRNA Translation: BAG59837.1
AC016753 Genomic DNA Translation: AAY24340.1
BC013979 mRNA Translation: AAH13979.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS1978.1 [P38435-1]
CCDS46353.1 [P38435-2]

Protein sequence database of the Protein Information Resource

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PIRi
A39283

NCBI Reference Sequences

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RefSeqi
NP_000812.2, NM_000821.6 [P38435-1]
NP_001135741.1, NM_001142269.3 [P38435-2]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.77719

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000233838; ENSP00000233838; ENSG00000115486 [P38435-1]
ENST00000430215; ENSP00000408045; ENSG00000115486 [P38435-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
2677

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:2677

UCSC genome browser

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UCSCi
uc002sps.4 human [P38435-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M81592 mRNA Translation: AAA58643.1
U65896 Genomic DNA Translation: AAB39832.1
L17128 mRNA Translation: AAA91834.1
AK297397 mRNA Translation: BAG59837.1
AC016753 Genomic DNA Translation: AAY24340.1
BC013979 mRNA Translation: AAH13979.1
CCDSiCCDS1978.1 [P38435-1]
CCDS46353.1 [P38435-2]
PIRiA39283
RefSeqiNP_000812.2, NM_000821.6 [P38435-1]
NP_001135741.1, NM_001142269.3 [P38435-2]
UniGeneiHs.77719

3D structure databases

ProteinModelPortaliP38435
SMRiP38435
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108945, 16 interactors
IntActiP38435, 20 interactors
MINTiP38435
STRINGi9606.ENSP00000233838

Chemistry databases

ChEMBLiCHEMBL2012
DrugBankiDB01125 Anisindione
DB00100 Coagulation Factor IX (Recombinant)
DB00036 Coagulation factor VIIa Recombinant Human
DB00055 Drotrecogin alfa
DB00142 L-Glutamic Acid
DB00170 Menadione
DB01022 Phylloquinone

PTM databases

GlyConnecti1894
iPTMnetiP38435
PhosphoSitePlusiP38435

Polymorphism and mutation databases

BioMutaiGGCX
DMDMi84028279

Proteomic databases

EPDiP38435
MaxQBiP38435
PaxDbiP38435
PeptideAtlasiP38435
PRIDEiP38435
ProteomicsDBi55296

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
2677
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000233838; ENSP00000233838; ENSG00000115486 [P38435-1]
ENST00000430215; ENSP00000408045; ENSG00000115486 [P38435-2]
GeneIDi2677
KEGGihsa:2677
UCSCiuc002sps.4 human [P38435-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
2677
DisGeNETi2677
EuPathDBiHostDB:ENSG00000115486.11

GeneCards: human genes, protein and diseases

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GeneCardsi
GGCX
HGNCiHGNC:4247 GGCX
HPAiHPA018284
MalaCardsiGGCX
MIMi137167 gene
277450 phenotype
610842 phenotype
neXtProtiNX_P38435
OpenTargetsiENSG00000115486
Orphaneti91135 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
98434 Hereditary combined deficiency of vitamin K-dependent clotting factors
436274 Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa
PharmGKBiPA28660

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IHG2 Eukaryota
ENOG410XR5Q LUCA
GeneTreeiENSGT00390000014909
HOGENOMiHOG000007593
HOVERGENiHBG012798
InParanoidiP38435
KOiK10106
OMAiYWNYFLI
OrthoDBiEOG091G07P8
PhylomeDBiP38435
TreeFamiTF323879

Enzyme and pathway databases

BioCyciMetaCyc:HS03897-MONOMER
BRENDAi4.1.1.90 2681
ReactomeiR-HSA-159740 Gamma-carboxylation of protein precursors

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
GGCX human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
Gamma-glutamyl_carboxylase

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
2677

Protein Ontology

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PROi
PR:P38435

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000115486 Expressed in 226 organ(s), highest expression level in oviduct epithelium
CleanExiHS_GC
HS_GGCX
ExpressionAtlasiP38435 baseline and differential
GenevisibleiP38435 HS

Family and domain databases

InterProiView protein in InterPro
IPR011020 HTTM
IPR011051 RmlC_Cupin_sf
IPR007782 VKG_COase
PANTHERiPTHR12639 PTHR12639, 1 hit
PfamiView protein in Pfam
PF05090 VKG_Carbox, 1 hit
SMARTiView protein in SMART
SM00752 HTTM, 1 hit
SUPFAMiSSF51182 SSF51182, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiVKGC_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P38435
Secondary accession number(s): B4DMC5
, E9PEE1, Q14415, Q6GU45
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1994
Last sequence update: December 20, 2005
Last modified: December 5, 2018
This is version 171 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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