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    DGLUCY D-glutamate cyclase [ Homo sapiens (human) ]

    Gene ID: 80017, updated on 10-Dec-2024

    Summary

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    Official Symbol
    DGLUCYprovided by HGNC
    Official Full Name
    D-glutamate cyclaseprovided by HGNC
    Primary source
    HGNC:HGNC:20498
    See related
    Ensembl:ENSG00000133943 MIM:620716; AllianceGenome:HGNC:20498
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C14orf159
    Summary
    Predicted to enable D-glutamate cyclase activity. Predicted to be involved in glutamate metabolic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in heart (RPKM 27.3), kidney (RPKM 11.9) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DGLUCY in Genome Data Viewer
    Location:
    14q32.11
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (91060333..91225632)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (85285776..85451130)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (91526677..91691976)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene tetratricopeptide repeat domain 7B Neighboring gene ReSE screen-validated silencer GRCh37_chr14:91260136-91260298 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6013 Neighboring gene MPRA-validated peak2229 silencer Neighboring gene ribosomal protein S18 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6014 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:91311907-91312408 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:91312409-91312908 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:91315826-91316592 Neighboring gene long intergenic non-protein coding RNA 2321 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8883 Neighboring gene ribosomal protein S6 kinase A5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8884 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8885 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8886 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8887 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8888 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8889 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6016 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:91526715-91527295 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6015 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6018 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8890 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8891 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8892 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:91579864-91580776 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:91582717-91583218 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:91585689-91586888 Neighboring gene RNA, U7 small nuclear 30 pseudogene Neighboring gene Sharpr-MPRA regulatory region 15407 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8893 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8894 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:91619068-91619346 Neighboring gene Sharpr-MPRA regulatory region 3148 Neighboring gene small nucleolar RNA, H/ACA box 11B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8898 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8899 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8895 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8896 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8897 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8900 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:91710745-91711246 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6019 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:91719939-91720470 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:91720471-91721002 Neighboring gene CRISPRi-validated cis-regulatory element chr14.1904 Neighboring gene Sharpr-MPRA regulatory region 4292 Neighboring gene CRISPRi-validated cis-regulatory element chr14.1906 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:91749514-91749720 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6022 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6023 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:91772467-91773300 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:91771631-91772466 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8902 Neighboring gene G protein-coupled receptor 68 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8903 Neighboring gene coiled-coil domain containing 88C Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8904 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8905 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8906 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:91818809-91819780 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:91821242-91821752 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:91826971-91827470 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:91826469-91826970 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8907 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6024 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8908 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8909 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8910 Neighboring gene uncharacterized LOC107984673 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:91838097-91838709 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8911

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Identification of a Highly Conserved Hypothetical Protein TON_0340 as a Probable Manganese-Dependent Phosphatase. Sohn YS, et al. PLoS One, 2016. PMID 27907125, Free PMC Article
    2. Transcriptional maps of 10 human chromosomes at 5-nucleotide resolution. Cheng J, et al. Science, 2005 May 20. PMID 15790807
    3. (D)-Glutamate is metabolized in the heart mitochondria. Ariyoshi M, et al. Sci Rep, 2017 Mar 7. PMID 28266638, Free PMC Article
    4. A Genome-Wide CRISPR Screen Identifies Genes Critical for Resistance to FLT3 Inhibitor AC220. Hou P, et al. Cancer Res, 2017 Aug 15. PMID 28625976, Free PMC Article
    5. Generation and analysis of 280,000 human expressed sequence tags. Hillier LD, et al. Genome Res, 1996 Sep. PMID 8889549

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ20950, FLJ39943, FLJ39975, DKFZp686I02128

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables D-glutamate cyclase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables D-glutamate cyclase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in glutamate metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in glutamate metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrial matrix ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in mitochondrion HTP PubMed 

    General protein information

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    Preferred Names
    D-glutamate cyclase, mitochondrial
    Names
    UPF0317 protein C14orf159, mitochondrial
    NP_001095836.1
    NP_001095837.1
    NP_001095838.1
    NP_001095839.1
    NP_001273399.1
    NP_001273400.1
    NP_001273401.1
    NP_001273402.1
    NP_001345239.1
    NP_001345240.1
    NP_001345241.1
    NP_079228.4

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001102366.3 → NP_001095836.1  D-glutamate cyclase, mitochondrial isoform a precursor

      See identical proteins and their annotated locations for NP_001095836.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the shortest isoform (a). Variants 1, 2, 3, and 7 encode the same isoform (a).
      Source sequence(s)
      AL121784, AL135818, AL602721, BC065558, BX642394, DR003467
      Consensus CDS
      CCDS32141.1
      UniProtKB/Swiss-Prot
      B3KUI7, Q7Z3D6, Q86SW3, Q86SX8, Q86SX9, Q86T08, Q86TV5, Q96GW5, Q9H7G0, Q9H8Y9, Q9H9W6
      UniProtKB/TrEMBL
      B3KVU6, Q6IA66
      Related
      ENSP00000428974.1, ENST00000523816.5
      Conserved Domains (2) summary
      pfam07286
      Location:118 → 255
      DUF1445; Protein of unknown function (DUF1445)
      pfam14336
      Location:298 → 608
      DUF4392; Domain of unknown function (DUF4392)

    2. NM_001102367.2 → NP_001095837.1  D-glutamate cyclase, mitochondrial isoform a precursor

      See identical proteins and their annotated locations for NP_001095837.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 3, and 7 encode the same isoform (a).
      Source sequence(s)
      AL121784, BC010614, BX642394, DB258432, DR003467
      Consensus CDS
      CCDS32141.1
      UniProtKB/Swiss-Prot
      B3KUI7, Q7Z3D6, Q86SW3, Q86SX8, Q86SX9, Q86T08, Q86TV5, Q96GW5, Q9H7G0, Q9H8Y9, Q9H9W6
      UniProtKB/TrEMBL
      B3KVU6, Q6IA66
      Related
      ENSP00000427953.1, ENST00000522322.5
      Conserved Domains (2) summary
      pfam07286
      Location:118 → 255
      DUF1445; Protein of unknown function (DUF1445)
      pfam14336
      Location:298 → 608
      DUF4392; Domain of unknown function (DUF4392)

    3. NM_001102368.3 → NP_001095838.1  D-glutamate cyclase, mitochondrial isoform b precursor

      See identical proteins and their annotated locations for NP_001095838.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and uses an alternate in-frame splice site, compared to variant 1. The encoded isoform (b) is longer than isoform a. Variants 4 and 6 encode the same isoform (b).
      Source sequence(s)
      AB210031, AL135818, BC065558, BX642394, DA296867, DR003467
      Consensus CDS
      CCDS41979.1
      UniProtKB/TrEMBL
      B3KVU6, Q6IA66
      Related
      ENSP00000256324.9, ENST00000256324.15
      Conserved Domains (2) summary
      pfam07286
      Location:118 → 260
      DUF1445; Protein of unknown function (DUF1445)
      pfam14336
      Location:303 → 613
      DUF4392; Domain of unknown function (DUF4392)

    4. NM_001102369.3 → NP_001095839.1  D-glutamate cyclase, mitochondrial isoform c

      See identical proteins and their annotated locations for NP_001095839.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, uses an alternate in-frame splice site, and lacks an alternate in-frame exon, compared to variant 1. The encoded isoform (c) is shorter than isoform a.
      Source sequence(s)
      AK023200, AL121784, AL135818, BC065558, BX642394, DA641301, DR003467
      Consensus CDS
      CCDS45150.1
      UniProtKB/TrEMBL
      B3KVU6
      Related
      ENSP00000429453.1, ENST00000520328.5
      Conserved Domains (2) summary
      pfam07286
      Location:118 → 242
      DUF1445; Protein of unknown function (DUF1445)
      pfam14336
      Location:286 → 556
      DUF4392; Domain of unknown function (DUF4392)

    5. NM_001286470.2 → NP_001273399.1  D-glutamate cyclase, mitochondrial isoform b precursor

      See identical proteins and their annotated locations for NP_001273399.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR and uses an alternate in-frame splice site, compared to variant 1. The encoded isoform (b) is longer than isoform a. Variants 4 and 6 encode the same isoform (b).
      Source sequence(s)
      AA192653, AK123532, AL121784, AL135818, AL602721, BC065558, BX161393, DR003467
      Consensus CDS
      CCDS41979.1
      UniProtKB/TrEMBL
      B3KVU6, Q6IA66
      Related
      ENSP00000428263.1, ENST00000518868.5
      Conserved Domains (2) summary
      pfam07286
      Location:118 → 260
      DUF1445; Protein of unknown function (DUF1445)
      pfam14336
      Location:303 → 613
      DUF4392; Domain of unknown function (DUF4392)

    6. NM_001286471.1 → NP_001273400.1  D-glutamate cyclase, mitochondrial isoform a precursor

      See identical proteins and their annotated locations for NP_001273400.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 3, and 7 encode the same isoform (a).
      Source sequence(s)
      AA192653, AL121784, AY358516, BC065558, BX161393, DR003467
      Consensus CDS
      CCDS32141.1
      UniProtKB/Swiss-Prot
      B3KUI7, Q7Z3D6, Q86SW3, Q86SX8, Q86SX9, Q86T08, Q86TV5, Q96GW5, Q9H7G0, Q9H8Y9, Q9H9W6
      UniProtKB/TrEMBL
      B3KVU6, Q6IA66
      Related
      ENSP00000429655.1, ENST00000523771.5
      Conserved Domains (2) summary
      pfam07286
      Location:118 → 255
      DUF1445; Protein of unknown function (DUF1445)
      pfam14336
      Location:298 → 608
      DUF4392; Domain of unknown function (DUF4392)

    7. NM_001286472.2 → NP_001273401.1  D-glutamate cyclase, mitochondrial isoform d

      See identical proteins and their annotated locations for NP_001273401.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8) differs in the 5' UTR, uses an alternate in-frame splice site, and lacks an alternate in-frame exon, compared to variant 1. The encoded isoform (d) is shorter than isoform a.
      Source sequence(s)
      AL135818, BX247989, DA296867, DR003467
      Consensus CDS
      CCDS66693.1
      UniProtKB/TrEMBL
      B3KVU6
      Related
      ENSP00000430137.1, ENST00000521077.6
      Conserved Domains (2) summary
      pfam07286
      Location:118 → 259
      DUF1445; Protein of unknown function (DUF1445)
      pfam14336
      Location:303 → 573
      DUF4392; Domain of unknown function (DUF4392)

    8. NM_001286473.2 → NP_001273402.1  D-glutamate cyclase, mitochondrial isoform e

      See identical proteins and their annotated locations for NP_001273402.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (9) differs in the 5' UTR, and lacks multiple 3' coding exons and contains an alternate 3' terminal exon, resulting in a distinct 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (e) has a distinct C-terminus and is shorter than isoform a.
      Source sequence(s)
      AI825879, BC009182, DA296867
      Consensus CDS
      CCDS73677.1
      UniProtKB/Swiss-Prot
      Q7Z3D6
      Related
      ENSP00000429098.1, ENST00000518665.6
      Conserved Domains (1) summary
      cl01790
      Location:12 → 77
      DUF1445; Protein of unknown function (DUF1445)

    9. NM_001358310.2 → NP_001345239.1  D-glutamate cyclase, mitochondrial isoform b precursor

      Status: VALIDATED

      Source sequence(s)
      AL121784, AL135818
      Consensus CDS
      CCDS41979.1
      UniProtKB/TrEMBL
      B3KVU6, Q6IA66
      Conserved Domains (2) summary
      pfam07286
      Location:118 → 260
      DUF1445; Protein of unknown function (DUF1445)
      pfam14336
      Location:303 → 613
      DUF4392; Domain of unknown function (DUF4392)

    10. NM_001358311.2 → NP_001345240.1  D-glutamate cyclase, mitochondrial isoform a precursor

      Status: VALIDATED

      Source sequence(s)
      AL121784, AL135818
      Consensus CDS
      CCDS32141.1
      UniProtKB/Swiss-Prot
      B3KUI7, Q7Z3D6, Q86SW3, Q86SX8, Q86SX9, Q86T08, Q86TV5, Q96GW5, Q9H7G0, Q9H8Y9, Q9H9W6
      UniProtKB/TrEMBL
      B3KVU6, Q6IA66
      Conserved Domains (2) summary
      pfam07286
      Location:118 → 255
      DUF1445; Protein of unknown function (DUF1445)
      pfam14336
      Location:298 → 608
      DUF4392; Domain of unknown function (DUF4392)

    11. NM_001358312.2 → NP_001345241.1  D-glutamate cyclase, mitochondrial isoform b precursor

      Status: VALIDATED

      Source sequence(s)
      AL121784, AL135818
      Consensus CDS
      CCDS41979.1
      UniProtKB/TrEMBL
      B3KVU6, Q6IA66
      Conserved Domains (2) summary
      pfam07286
      Location:118 → 260
      DUF1445; Protein of unknown function (DUF1445)
      pfam14336
      Location:303 → 613
      DUF4392; Domain of unknown function (DUF4392)

    12. NM_024952.8 → NP_079228.4  D-glutamate cyclase, mitochondrial isoform a precursor

      See identical proteins and their annotated locations for NP_079228.4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 3, and 7 encode the same isoform (a).
      Source sequence(s)
      AK022564, AL121784, AL135818, AL602721, BX642394, DR003467
      Consensus CDS
      CCDS32141.1
      UniProtKB/Swiss-Prot
      B3KUI7, Q7Z3D6, Q86SW3, Q86SX8, Q86SX9, Q86T08, Q86TV5, Q96GW5, Q9H7G0, Q9H8Y9, Q9H9W6
      UniProtKB/TrEMBL
      B3KVU6, Q6IA66
      Related
      ENSP00000404343.2, ENST00000428926.6
      Conserved Domains (2) summary
      pfam07286
      Location:118 → 255
      DUF1445; Protein of unknown function (DUF1445)
      pfam14336
      Location:298 → 608
      DUF4392; Domain of unknown function (DUF4392)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      91060333..91225632
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      85285776..85451130
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7Z3D6.2 GenPept UniProtKB/Swiss-Prot:Q7Z3D6

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Molecular Biology Databases
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