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Entry version 145 (02 Dec 2020)
Sequence version 2 (07 Jun 2004)
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Protein

D-glutamate cyclase, mitochondrial

Gene

DGLUCY

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

Annotation score:4 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

D-glutamate cyclase that converts D-glutamate to 5-oxo-D-proline.By similarity

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">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>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

<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

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q7Z3D6

<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%5Fand%5Ftaxonomy%5Fsection">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:
D-glutamate cyclase, mitochondrialCurated (EC:4.2.1.48By similarity)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:DGLUCYImported
Synonyms:C14orf159Imported
ORF Names:UNQ2439/PRO50001 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 14

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...
EuPathDBi
HostDB:ENSG00000133943.20

Human Gene Nomenclature Database

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HGNCi
HGNC:20498, DGLUCY

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q7Z3D6

<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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Mitochondrion

<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

Organism-specific databases

DisGeNET

More...
DisGeNETi
80017

Open Targets

More...
OpenTargetsi
ENSG00000133943

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134952868

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q7Z3D6, Tdark

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
DGLUCY

Domain mapping of disease mutations (DMDM)

More...
DMDMi
48428039

<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 'PTM / Processing' section describes the extent of a transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – 28MitochondrionSequence analysisAdd BLAST28
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000003629229 – 616D-glutamate cyclase, mitochondrialAdd BLAST588

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q7Z3D6

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q7Z3D6

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q7Z3D6

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q7Z3D6

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

More...
PaxDbi
Q7Z3D6

PeptideAtlas

More...
PeptideAtlasi
Q7Z3D6

PRoteomics IDEntifications database

More...
PRIDEi
Q7Z3D6

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
69032 [Q7Z3D6-1]
69033 [Q7Z3D6-2]
69034 [Q7Z3D6-3]
69035 [Q7Z3D6-4]
69036 [Q7Z3D6-5]
69037 [Q7Z3D6-6]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q7Z3D6

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

More...
PhosphoSitePlusi
Q7Z3D6

<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
ENSG00000133943, Expressed in apex of heart and 234 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q7Z3D6, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q7Z3D6, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000133943, Tissue enhanced (skeletal)

<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%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
123071, 11 interactors

Protein interaction database and analysis system

More...
IntActi
Q7Z3D6, 10 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000428263

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q7Z3D6, protein

<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

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

More...
SMRi
Q7Z3D6

Database of comparative protein structure models

More...
ModBasei
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

Belongs to the D-glutamate cyclase family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG502QV7A, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000002237

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_140425_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q7Z3D6

Identification of Orthologs from Complete Genome Data

More...
OMAi
HERYLRK

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q7Z3D6

TreeFam database of animal gene trees

More...
TreeFami
TF300254

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR009906, D-Glu_cyclase
IPR017135, D-Glu_cyclase_mito
IPR025504, DUF4392
IPR038021, Putative_hydro-lyase

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF07286, DUF1445, 1 hit
PF14336, DUF4392, 1 hit

PIRSF; a whole-protein classification database

More...
PIRSFi
PIRSF037204, UCP037204, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF160920, SSF160920, 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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (6+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 6 <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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 6 described isoforms and 18 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q7Z3D6-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MPFTLHLRSR LPSAIRSLIL QKKPNIRNTS SMAGELRPAS LVVLPRSLAP
60 70 80 90 100
AFERFCQVNT GPLPLLGQSE PEKWMLPPQG AISETRMGHP QFWKYEFGAC
110 120 130 140 150
TGSLASLEQY SEQLKDMVAF FLGCSFSLEE ALEKAGLPRR DPAGHSQTTV
160 170 180 190 200
PCVTHAGFCC PLVVTMRPIP KDKLEGLVRA CCSLGGEQGQ PVHMGDPELL
210 220 230 240 250
GIKELSKPAY GDAMVCPPGE VPVFWPSPLT SLGAVSSCET PLAFASIPGC
260 270 280 290 300
TVMTDLKDAK APPGCLTPER IPEVHHISQD PLHYSIASVS ASQKIRELES
310 320 330 340 350
MIGIDPGNRG IGHLLCKDEL LKASLSLSHA RSVLITTGFP THFNHEPPEE
360 370 380 390 400
TDGPPGAVAL VAFLQALEKE VAIIVDQRAW NLHQKIVEDA VEQGVLKTQI
410 420 430 440 450
PILTYQGGSV EAAQAFLCKN GDPQTPRFDH LVAIERAGRA ADGNYYNARK
460 470 480 490 500
MNIKHLVDPI DDLFLAAKKI PGISSTGVGD GGNELGMGKV KEAVRRHIRH
510 520 530 540 550
GDVIACDVEA DFAVIAGVSN WGGYALACAL YILYSCAVHS QYLRKAVGPS
560 570 580 590 600
RAPGDQAWTQ ALPSVIKEEK MLGILVQHKV RSGVSGIVGM EVDGLPFHNT
610
HAEMIQKLVD VTTAQV
Length:616
Mass (Da):66,437
Last modified:June 7, 2004 - 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:iC33884FA33D4D1AC
GO
Isoform 2 (identifier: Q7Z3D6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     147-147: Q → QAGAYK

Show »
Length:621
Mass (Da):66,927
Checksum:i83EF9BEBBD38AE37
GO
Isoform 3 (identifier: Q7Z3D6-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     147-147: Q → QAGAYK
     477-516: Missing.

Show »
Length:581
Mass (Da):62,782
Checksum:i3DD939B5DF4DC6E1
GO
Isoform 4 (identifier: Q7Z3D6-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     147-147: Q → QAGAYK
     569-574: EKMLGI → SKGRKL
     575-616: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.Curated
Show »
Length:579
Mass (Da):62,401
Checksum:i957E67F7EB24BC50
GO
Isoform 5 (identifier: Q7Z3D6-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     186-197: Missing.
     477-516: Missing.

Show »
Length:564
Mass (Da):61,059
Checksum:i6A36A72C24467686
GO
Isoform 6 (identifier: Q7Z3D6-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     86-159: RMGHPQFWKY...VPCVTHAGFC → SLRDLHSAWH...AQARNPPVQD
     160-616: Missing.

Show »
Length:159
Mass (Da):17,705
Checksum:iA2E225F80B94267B
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 18 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YB62H0YB62_HUMAN
D-glutamate cyclase, mitochondrial
DGLUCY
506Annotation 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>
E5RIU5E5RIU5_HUMAN
D-glutamate cyclase, mitochondrial
DGLUCY
202Annotation 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>
E5RJ62E5RJ62_HUMAN
D-glutamate cyclase, mitochondrial
DGLUCY
201Annotation 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>
H0YB09H0YB09_HUMAN
D-glutamate cyclase, mitochondrial
DGLUCY
564Annotation 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>
A0A0C4DGD4A0A0C4DGD4_HUMAN
D-glutamate cyclase, mitochondrial
DGLUCY
431Annotation 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>
A0A0C4DGD8A0A0C4DGD8_HUMAN
D-glutamate cyclase, mitochondrial
DGLUCY
152Annotation 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>
E5RGP9E5RGP9_HUMAN
D-glutamate cyclase, mitochondrial
DGLUCY
86Annotation 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>
H0YB11H0YB11_HUMAN
D-glutamate cyclase, mitochondrial
DGLUCY
276Annotation 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>
E5RFT5E5RFT5_HUMAN
D-glutamate cyclase, mitochondrial
DGLUCY
85Annotation 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>
E5RFZ6E5RFZ6_HUMAN
D-glutamate cyclase, mitochondrial
DGLUCY
94Annotation 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>
There are more potential isoformsShow all

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAB14932 differs from that shown. Reason: Frameshift.Curated

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 conflicti32M → V in CAD97934 (PubMed:17974005).Curated1
Sequence conflicti147Q → P in AAQ88880 (PubMed:12975309).Curated1
Sequence conflicti165T → M in CAD97934 (PubMed:17974005).Curated1
Sequence conflicti349E → V in BAB14932 (PubMed:14702039).Curated1
Sequence conflicti368E → G in CAD97934 (PubMed:17974005).Curated1
Sequence conflicti497H → R in BAB14932 (PubMed:14702039).Curated1

Natural variant

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_01873810R → C. Corresponds to variant dbSNP:rs10142502Ensembl.1
Natural variantiVAR_052599237S → N. Corresponds to variant dbSNP:rs34302825Ensembl.1
Natural variantiVAR_052600372A → T. Corresponds to variant dbSNP:rs12895348Ensembl.1
Natural variantiVAR_018739502D → N. Corresponds to variant dbSNP:rs2295524Ensembl.1
Natural variantiVAR_052601507D → N. Corresponds to variant dbSNP:rs34523602Ensembl.1
Natural variantiVAR_052602583G → D. Corresponds to variant dbSNP:rs34748911Ensembl.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.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_01050586 – 159RMGHP…HAGFC → SLRDLHSAWHRTSLMTVAQE RAALPTVLTPSPITWRLSWL RSLRSWRKSSPGEIPLALPS VHSIAQARNPPVQD in isoform 6. 1 PublicationAdd BLAST74
Alternative sequenceiVSP_010506147Q → QAGAYK in isoform 2, isoform 3 and isoform 4. 3 Publications1
Alternative sequenceiVSP_010507160 – 616Missing in isoform 6. 1 PublicationAdd BLAST457
Alternative sequenceiVSP_010508186 – 197Missing in isoform 5. 1 PublicationAdd BLAST12
Alternative sequenceiVSP_010509477 – 516Missing in isoform 3 and isoform 5. 2 PublicationsAdd BLAST40
Alternative sequenceiVSP_010510569 – 574EKMLGI → SKGRKL in isoform 4. 1 Publication6
Alternative sequenceiVSP_010511575 – 616Missing in isoform 4. 1 PublicationAdd BLAST42

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
AY358516 mRNA Translation: AAQ88880.1
AK022564 mRNA Translation: BAB14102.1
AK023200 mRNA Translation: BAB14458.1
AK024603 mRNA Translation: BAB14932.1 Sequence problems.
AK097294 mRNA Translation: BAG53449.1
BX161393 mRNA Translation: CAD61880.1
BX247989 mRNA Translation: CAD62323.1
BX248060 mRNA Translation: CAD62356.1
BX248294 mRNA Translation: CAD62622.1
BX248782 mRNA Translation: CAD66589.1
BX537970 mRNA Translation: CAD97934.1
BC009182 mRNA Translation: AAH09182.1
BC010614 mRNA Translation: AAH10614.1
BC065558 mRNA Translation: AAH65558.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS32141.1 [Q7Z3D6-1]
CCDS41979.1 [Q7Z3D6-2]
CCDS45150.1 [Q7Z3D6-5]
CCDS66693.1 [Q7Z3D6-3]
CCDS73677.1 [Q7Z3D6-6]

NCBI Reference Sequences

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RefSeqi
NP_001095836.1, NM_001102366.2 [Q7Z3D6-1]
NP_001095837.1, NM_001102367.2 [Q7Z3D6-1]
NP_001095838.1, NM_001102368.2 [Q7Z3D6-2]
NP_001095839.1, NM_001102369.2 [Q7Z3D6-5]
NP_001273399.1, NM_001286470.1 [Q7Z3D6-2]
NP_001273400.1, NM_001286471.1 [Q7Z3D6-1]
NP_001273401.1, NM_001286472.1 [Q7Z3D6-3]
NP_001273402.1, NM_001286473.1 [Q7Z3D6-6]
NP_079228.4, NM_024952.7 [Q7Z3D6-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000256324; ENSP00000256324; ENSG00000133943 [Q7Z3D6-2]
ENST00000298858; ENSP00000298858; ENSG00000133943 [Q7Z3D6-6]
ENST00000412671; ENSP00000404196; ENSG00000133943 [Q7Z3D6-2]
ENST00000428926; ENSP00000404343; ENSG00000133943 [Q7Z3D6-1]
ENST00000518665; ENSP00000429098; ENSG00000133943 [Q7Z3D6-6]
ENST00000518868; ENSP00000428263; ENSG00000133943 [Q7Z3D6-2]
ENST00000520328; ENSP00000429453; ENSG00000133943 [Q7Z3D6-5]
ENST00000521077; ENSP00000430137; ENSG00000133943 [Q7Z3D6-3]
ENST00000522322; ENSP00000427953; ENSG00000133943 [Q7Z3D6-1]
ENST00000523771; ENSP00000429655; ENSG00000133943 [Q7Z3D6-1]
ENST00000523816; ENSP00000428974; ENSG00000133943 [Q7Z3D6-1]
ENST00000525393; ENSP00000435459; ENSG00000133943 [Q7Z3D6-3]

Database of genes from NCBI RefSeq genomes

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GeneIDi
80017

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:80017

UCSC genome browser

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UCSCi
uc001xyv.4, human [Q7Z3D6-1]

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
AY358516 mRNA Translation: AAQ88880.1
AK022564 mRNA Translation: BAB14102.1
AK023200 mRNA Translation: BAB14458.1
AK024603 mRNA Translation: BAB14932.1 Sequence problems.
AK097294 mRNA Translation: BAG53449.1
BX161393 mRNA Translation: CAD61880.1
BX247989 mRNA Translation: CAD62323.1
BX248060 mRNA Translation: CAD62356.1
BX248294 mRNA Translation: CAD62622.1
BX248782 mRNA Translation: CAD66589.1
BX537970 mRNA Translation: CAD97934.1
BC009182 mRNA Translation: AAH09182.1
BC010614 mRNA Translation: AAH10614.1
BC065558 mRNA Translation: AAH65558.1
CCDSiCCDS32141.1 [Q7Z3D6-1]
CCDS41979.1 [Q7Z3D6-2]
CCDS45150.1 [Q7Z3D6-5]
CCDS66693.1 [Q7Z3D6-3]
CCDS73677.1 [Q7Z3D6-6]
RefSeqiNP_001095836.1, NM_001102366.2 [Q7Z3D6-1]
NP_001095837.1, NM_001102367.2 [Q7Z3D6-1]
NP_001095838.1, NM_001102368.2 [Q7Z3D6-2]
NP_001095839.1, NM_001102369.2 [Q7Z3D6-5]
NP_001273399.1, NM_001286470.1 [Q7Z3D6-2]
NP_001273400.1, NM_001286471.1 [Q7Z3D6-1]
NP_001273401.1, NM_001286472.1 [Q7Z3D6-3]
NP_001273402.1, NM_001286473.1 [Q7Z3D6-6]
NP_079228.4, NM_024952.7 [Q7Z3D6-1]

3D structure databases

SMRiQ7Z3D6
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi123071, 11 interactors
IntActiQ7Z3D6, 10 interactors
STRINGi9606.ENSP00000428263

PTM databases

iPTMnetiQ7Z3D6
PhosphoSitePlusiQ7Z3D6

Polymorphism and mutation databases

BioMutaiDGLUCY
DMDMi48428039

Proteomic databases

EPDiQ7Z3D6
jPOSTiQ7Z3D6
MassIVEiQ7Z3D6
MaxQBiQ7Z3D6
PaxDbiQ7Z3D6
PeptideAtlasiQ7Z3D6
PRIDEiQ7Z3D6
ProteomicsDBi69032 [Q7Z3D6-1]
69033 [Q7Z3D6-2]
69034 [Q7Z3D6-3]
69035 [Q7Z3D6-4]
69036 [Q7Z3D6-5]
69037 [Q7Z3D6-6]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
52277, 29 antibodies

The DNASU plasmid repository

More...
DNASUi
80017

Genome annotation databases

EnsembliENST00000256324; ENSP00000256324; ENSG00000133943 [Q7Z3D6-2]
ENST00000298858; ENSP00000298858; ENSG00000133943 [Q7Z3D6-6]
ENST00000412671; ENSP00000404196; ENSG00000133943 [Q7Z3D6-2]
ENST00000428926; ENSP00000404343; ENSG00000133943 [Q7Z3D6-1]
ENST00000518665; ENSP00000429098; ENSG00000133943 [Q7Z3D6-6]
ENST00000518868; ENSP00000428263; ENSG00000133943 [Q7Z3D6-2]
ENST00000520328; ENSP00000429453; ENSG00000133943 [Q7Z3D6-5]
ENST00000521077; ENSP00000430137; ENSG00000133943 [Q7Z3D6-3]
ENST00000522322; ENSP00000427953; ENSG00000133943 [Q7Z3D6-1]
ENST00000523771; ENSP00000429655; ENSG00000133943 [Q7Z3D6-1]
ENST00000523816; ENSP00000428974; ENSG00000133943 [Q7Z3D6-1]
ENST00000525393; ENSP00000435459; ENSG00000133943 [Q7Z3D6-3]
GeneIDi80017
KEGGihsa:80017
UCSCiuc001xyv.4, human [Q7Z3D6-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
80017
DisGeNETi80017
EuPathDBiHostDB:ENSG00000133943.20

GeneCards: human genes, protein and diseases

More...
GeneCardsi
DGLUCY
HGNCiHGNC:20498, DGLUCY
HPAiENSG00000133943, Tissue enhanced (skeletal)
neXtProtiNX_Q7Z3D6
OpenTargetsiENSG00000133943
PharmGKBiPA134952868

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG502QV7A, Eukaryota
GeneTreeiENSGT00390000002237
HOGENOMiCLU_140425_0_0_1
InParanoidiQ7Z3D6
OMAiHERYLRK
PhylomeDBiQ7Z3D6
TreeFamiTF300254

Enzyme and pathway databases

PathwayCommonsiQ7Z3D6

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
80017, 5 hits in 837 CRISPR screens

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

More...
ChiTaRSi
C14orf159, human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
C14orf159

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

More...
GenomeRNAii
80017
PharosiQ7Z3D6, Tdark

Protein Ontology

More...
PROi
PR:Q7Z3D6
RNActiQ7Z3D6, protein

Gene expression databases

BgeeiENSG00000133943, Expressed in apex of heart and 234 other tissues
ExpressionAtlasiQ7Z3D6, baseline and differential
GenevisibleiQ7Z3D6, HS

Family and domain databases

InterProiView protein in InterPro
IPR009906, D-Glu_cyclase
IPR017135, D-Glu_cyclase_mito
IPR025504, DUF4392
IPR038021, Putative_hydro-lyase
PfamiView protein in Pfam
PF07286, DUF1445, 1 hit
PF14336, DUF4392, 1 hit
PIRSFiPIRSF037204, UCP037204, 1 hit
SUPFAMiSSF160920, SSF160920, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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 nameiGLUCM_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: Q7Z3D6
Secondary accession number(s): B3KUI7
, Q86SW3, Q86SX8, Q86SX9, Q86T08, Q86TV5, Q96GW5, Q9H7G0, Q9H8Y9, Q9H9W6
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 7, 2004
Last sequence update: June 7, 2004
Last modified: December 2, 2020
This is version 145 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

Reference proteome

Documents

  1. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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