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    ZNG1E Zn regulated GTPase metalloprotein activator 1E [ Homo sapiens (human) ]

    Gene ID: 220869, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ZNG1Eprovided by HGNC
    Official Full Name
    Zn regulated GTPase metalloprotein activator 1Eprovided by HGNC
    Primary source
    HGNC:HGNC:24584
    See related
    Ensembl:ENSG00000147996 AllianceGenome:HGNC:24584
    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
    DC36; CBWD3; CBWD5
    Summary
    Predicted to enable GTPase activity and zinc chaperone activity. Predicted to be involved in protein maturation. Predicted to be located in nucleus. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 9.8), small intestine (RPKM 9.4) and 25 other tissues See more
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    Genomic context

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    See ZNG1E in Genome Data Viewer
    Location:
    9q21.11
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (65652979..65734041)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (80061599..80119701, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (70432004..70490117, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105379447 Neighboring gene FSHD region gene 1 family member K, pseudogene Neighboring gene Sharpr-MPRA regulatory region 13873 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:70489243-70489833 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:70450935-70451544 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:70427620-70428156 Neighboring gene forkhead box D4 like 4 Neighboring gene immunoglobulin kappa variable 1/OR-3 (pseudogene)

    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. The development of a genetic profile of placental gene expression during the first trimester of pregnancy: a potential tool for identifying novel secreted markers. Page N, et al. Fetal Diagn Ther, 2000 Jul-Aug. PMID 10867487
    2. Zn-regulated GTPase metalloprotein activator 1 modulates vertebrate zinc homeostasis. Weiss A, et al. Cell, 2022 Jun 9. PMID 35584702, Free PMC Article
    3. Gene content and function of the ancestral chromosome fusion site in human chromosome 2q13-2q14.1 and paralogous regions. Fan Y, et al. Genome Res, 2002 Nov. PMID 12421752, Free PMC Article
    4. Gene expression in proliferating human erythroid cells. Gubin AN, et al. Genomics, 1999 Jul 15. PMID 10409428
    5. ESYT1 tethers the ER to mitochondria and is required for mitochondrial lipid and calcium homeostasis. Janer A, et al. Life Sci Alliance, 2024 Jan. PMID 37931956, Free PMC Article

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    • FLJ34856, FLJ40320, FLJ77192, MGC44166, MGC167043

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables GTPase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables zinc chaperone activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in protein maturation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    zinc-regulated GTPase metalloprotein activator 1E
    Names
    COBW domain containing 5
    COBW domain-containing protein 3
    COBW domain-containing protein 5
    COBW-like placental protein
    Cobalamin synthase W domain-containing protein 3
    cobalamin synthase W domain-containing protein 5
    cobalamin synthetase W domain-containing protein 5
    dopamine responsive protein

    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_001024916.4 → NP_001020087.2  zinc-regulated GTPase metalloprotein activator 1E isoform a

      Status: VALIDATED

      Source sequence(s)
      BX284632
      Consensus CDS
      CCDS75841.1
      UniProtKB/TrEMBL
      A0A087WWG3
      Related
      ENSP00000366612.4, ENST00000377395.8
      Conserved Domains (3) summary
      COG0523
      Location:42 → 328
      YejR; GTPase, G3E family [General function prediction only]
      pfam07683
      Location:226 → 325
      CobW_C; Cobalamin synthesis protein cobW C-terminal domain
      cl21455
      Location:43 → 181
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    2. NM_001286835.2 → NP_001273764.1  zinc-regulated GTPase metalloprotein activator 1E isoform b

      Status: VALIDATED

      Source sequence(s)
      BX284632
      Consensus CDS
      CCDS75844.1
      UniProtKB/TrEMBL
      Q5RIB3, Q6ZV90
      Related
      ENSP00000366609.6, ENST00000377392.9
      Conserved Domains (1) summary
      pfam07683
      Location:55 → 154
      CobW_C; Cobalamin synthesis protein cobW C-terminal domain

    3. NM_001286836.2 → NP_001273765.1  zinc-regulated GTPase metalloprotein activator 1E isoform c

      See identical proteins and their annotated locations for NP_001273765.1

      Status: VALIDATED

      Source sequence(s)
      BX284632
      Consensus CDS
      CCDS75843.1
      UniProtKB/TrEMBL
      Q5RIB5, Q9H2J8, S4R432
      Related
      ENSP00000366601.1, ENST00000377384.5
      Conserved Domains (1) summary
      cl21455
      Location:43 → 112
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    4. NM_001330668.2 → NP_001317597.1  zinc-regulated GTPase metalloprotein activator 1E isoform d

      Status: VALIDATED

      Source sequence(s)
      BX284632
      Consensus CDS
      CCDS83367.1
      UniProtKB/Swiss-Prot
      Q5RIA9, Q8N7U8
      UniProtKB/TrEMBL
      A0A0A0MRU4
      Related
      ENSP00000371842.3, ENST00000382405.8

    5. NM_001363751.1 → NP_001350680.1  zinc-regulated GTPase metalloprotein activator 1E isoform e

      Status: VALIDATED

      Source sequence(s)
      BX284632
      Consensus CDS
      CCDS87654.1
      UniProtKB/TrEMBL
      A0A0A0MRU4, Q5RIB0
      Related
      ENSP00000397999.2, ENST00000430059.6
      Conserved Domains (2) summary
      COG0523
      Location:42 → 357
      YejR; GTPase, G3E family [General function prediction only]
      cl26601
      Location:19 → 62
      ABC_ATPase; Predicted ATPase of the ABC class

    6. NM_001410971.1 → NP_001397900.1  zinc-regulated GTPase metalloprotein activator 1E isoform f

      Status: VALIDATED

      Source sequence(s)
      BX284632
      Consensus CDS
      CCDS94413.1
      UniProtKB/TrEMBL
      A0A0A0MRU4, A0A0A6YYH9
      Related
      ENSP00000405076.2, ENST00000429800.6

    RNA

    1. NR_104600.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      BX284632

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      65652979..65734041
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047422963.1 → XP_047278919.1  zinc-regulated GTPase metalloprotein activator 1E isoform X7

    2. XM_017014456.2 → XP_016869945.1  zinc-regulated GTPase metalloprotein activator 1E isoform X7

      Conserved Domains (1) summary
      cl26870
      Location:1 → 253
      CobW_C; Cobalamin synthesis protein cobW C-terminal domain

    3. XM_024447453.2 → XP_024303221.1  zinc-regulated GTPase metalloprotein activator 1E isoform X7

      Conserved Domains (1) summary
      cl26870
      Location:1 → 253
      CobW_C; Cobalamin synthesis protein cobW C-terminal domain

    4. XM_006716914.2 → XP_006716977.1  zinc-regulated GTPase metalloprotein activator 1E isoform X3

      Conserved Domains (2) summary
      COG0523
      Location:42 → 317
      YejR; GTPase, G3E family [General function prediction only]
      cl21455
      Location:43 → 207
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    5. XM_047422961.1 → XP_047278917.1  zinc-regulated GTPase metalloprotein activator 1E isoform X4

      UniProtKB/TrEMBL
      B7Z4F3

    6. XM_005272751.2 → XP_005272808.1  zinc-regulated GTPase metalloprotein activator 1E isoform X1

      UniProtKB/TrEMBL
      A0A087WWG3
      Conserved Domains (3) summary
      COG0523
      Location:42 → 347
      YejR; GTPase, G3E family [General function prediction only]
      pfam07683
      Location:245 → 344
      CobW_C; Cobalamin synthesis protein cobW C-terminal domain
      cl21455
      Location:43 → 181
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    7. XM_017014455.2 → XP_016869944.1  zinc-regulated GTPase metalloprotein activator 1E isoform X5

    8. XM_047422962.1 → XP_047278918.1  zinc-regulated GTPase metalloprotein activator 1E isoform X6

    9. XM_047422960.1 → XP_047278916.1  zinc-regulated GTPase metalloprotein activator 1E isoform X2

      UniProtKB/TrEMBL
      A0A087WWG3

    10. XM_017014458.2 → XP_016869947.1  zinc-regulated GTPase metalloprotein activator 1E isoform X8

      UniProtKB/TrEMBL
      F2Z2T4

    11. XM_047422965.1 → XP_047278921.1  zinc-regulated GTPase metalloprotein activator 1E isoform X10

      UniProtKB/TrEMBL
      Q6NVZ8
      Related
      ENSP00000420033.1, ENST00000476161.5

    12. XM_047422964.1 → XP_047278920.1  zinc-regulated GTPase metalloprotein activator 1E isoform X9

    13. XM_047422966.1 → XP_047278922.1  zinc-regulated GTPase metalloprotein activator 1E isoform X11

      UniProtKB/TrEMBL
      H0Y857

    RNA

    1. XR_007061263.1 RNA Sequence

    2. XR_428503.3 RNA Sequence

    3. XR_007061264.1 RNA Sequence

    4. XR_007061265.1 RNA Sequence

    5. XR_007061266.1 RNA Sequence

    6. XR_007061267.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      80061599..80119701 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5RIA9.1 GenPept UniProtKB/Swiss-Prot:Q5RIA9

    Gene LinkOut

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

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