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

Gene ID: 220869, updated on 2-Nov-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, Nov 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 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)

Genotypes

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
    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

  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

  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

    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

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

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