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    ZNG1C Zn regulated GTPase metalloprotein activator 1C [ Homo sapiens (human) ]

    Gene ID: 445571, updated on 28-Oct-2024

    Summary

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    Official Symbol
    ZNG1Cprovided by HGNC
    Official Full Name
    Zn regulated GTPase metalloprotein activator 1Cprovided by HGNC
    Primary source
    HGNC:HGNC:18519
    See related
    Ensembl:ENSG00000196873 MIM:611080; AllianceGenome:HGNC:18519
    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
    CBWD3; bA561O23.1
    Summary
    Predicted to enable GTP binding activity; hydrolase activity; and metal ion binding activity. Predicted to be located in nucleus. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in small intestine (RPKM 6.1), thyroid (RPKM 5.9) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See ZNG1C in Genome Data Viewer
    Location:
    9q21.11
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (68241983..68300035)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (80416505..80473721)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (70856899..70914951)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928608 Neighboring gene ankyrin repeat domain 20 family member A1 Neighboring gene RNA, U6 small nuclear 368, pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:70837488-70837989 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:70895397-70895980 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:70895981-70896564 Neighboring gene uncharacterized LOC124902173 Neighboring gene uncharacterized LOC107987077 Neighboring gene forkhead box D4 like 3

    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. Zn-regulated GTPase metalloprotein activator 1 modulates vertebrate zinc homeostasis. Weiss A, et al. Cell, 2022 Jun 9. PMID 35584702, Free PMC Article
    2. 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
    3. FBXL12-Mediated Degradation of ALDH3 is Essential for Trophoblast Differentiation During Placental Development. Nishiyama M, et al. Stem Cells, 2015 Nov. PMID 26124079
    4. Diverse fates of paralogs following segmental duplication of telomeric genes. Wong A, et al. Genomics, 2004 Aug. PMID 15233989
    5. A conserved acetylation switch enables pharmacological control of tubby-like protein stability. Kerek EM, et al. J Biol Chem, 2021 Jan-Jun. PMID 33187986, Free PMC Article

    See all (18) 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

    • FLJ60409

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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 1C
    Names
    COBW domain containing 3
    cobalamin synthase W domain-containing protein 3
    cobalamin synthetase W domain-containing protein 3

    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_001291821.2 → NP_001278750.1  zinc-regulated GTPase metalloprotein activator 1C isoform 2

      See identical proteins and their annotated locations for NP_001278750.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2, coding) represents the allele encoded by the GRCh38 reference genome and encodes isoform (2).
      Source sequence(s)
      AL353608
      UniProtKB/TrEMBL
      A0A0A0MRU4, A0A0A6YYH9
      Conserved Domains (3) summary
      COG0523
      Location:42 → 356
      YejR; GTPase, G3E family [General function prediction only]
      pfam02492
      Location:43 → 211
      cobW; CobW/HypB/UreG, nucleotide-binding domain
      pfam07683
      Location:254 → 353
      CobW_C; Cobalamin synthesis protein cobW C-terminal domain

    2. NM_001378113.1 → NP_001365042.1  zinc-regulated GTPase metalloprotein activator 1C isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL353608, FQ976557
      UniProtKB/TrEMBL
      A0A0A0MRU4
      Conserved Domains (3) summary
      COG3044
      Location:19 → 62
      COG3044; Predicted ATPase of the ABC class [General function prediction only]
      cd03112
      Location:43 → 246
      CobW-like; cobalamin synthesis protein CobW
      pfam07683
      Location:290 → 350
      CobW_C; Cobalamin synthesis protein cobW C-terminal domain

    3. NM_001378114.1 → NP_001365043.1  zinc-regulated GTPase metalloprotein activator 1C isoform 4

      Status: VALIDATED

      Source sequence(s)
      AL353608, FQ976557
      UniProtKB/TrEMBL
      A0A087WWG3
      Related
      ENSP00000480203.1, ENST00000618217.4
      Conserved Domains (2) summary
      COG0523
      Location:42 → 347
      YejR; GTPase, G3E family [General function prediction only]
      COG3044
      Location:19 → 62
      COG3044; Predicted ATPase of the ABC class [General function prediction only]

    4. NM_001378115.1 → NP_001365044.1  zinc-regulated GTPase metalloprotein activator 1C isoform 5

      Status: VALIDATED

      Source sequence(s)
      AL353608, FQ976557
      UniProtKB/TrEMBL
      A0A0A0MRU4
      Conserved Domains (2) summary
      cd03112
      Location:43 → 217
      CobW-like; cobalamin synthesis protein CobW
      pfam07683
      Location:245 → 344
      CobW_C; Cobalamin synthesis protein cobW C-terminal domain

    5. NM_001378116.1 → NP_001365045.1  zinc-regulated GTPase metalloprotein activator 1C isoform 6

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6, coding) represents the allele encoded by the GRCh38 reference genome and encodes isoform (6).
      Source sequence(s)
      AL353608
      UniProtKB/TrEMBL
      A0A087WWG3
      Conserved Domains (2) summary
      COG0523
      Location:42 → 327
      YejR; GTPase, G3E family [General function prediction only]
      COG3044
      Location:19 → 62
      COG3044; Predicted ATPase of the ABC class [General function prediction only]

    6. NM_001378117.1 → NP_001365046.1  zinc-regulated GTPase metalloprotein activator 1C isoform 7

      Status: VALIDATED

      Source sequence(s)
      AL353608, FQ976557
      UniProtKB/TrEMBL
      A0A087WWG3
      Conserved Domains (3) summary
      COG3044
      Location:19 → 62
      COG3044; Predicted ATPase of the ABC class [General function prediction only]
      cd03112
      Location:43 → 206
      CobW-like; cobalamin synthesis protein CobW
      pfam07683
      Location:242 → 302
      CobW_C; Cobalamin synthesis protein cobW C-terminal domain

    7. NM_201453.4 → NP_958861.2  zinc-regulated GTPase metalloprotein activator 1C isoform 1

      See identical proteins and their annotated locations for NP_958861.2

      Status: VALIDATED

      Source sequence(s)
      AL353608, FQ976557
      Consensus CDS
      CCDS35038.2
      UniProtKB/Swiss-Prot
      B4DNG9, Q5JTY5, Q6VB91
      UniProtKB/TrEMBL
      A0A0A0MRU4
      Related
      ENSP00000353295.6, ENST00000360171.11
      Conserved Domains (3) summary
      COG0523
      Location:42 → 376
      YejR; GTPase, G3E family [General function prediction only]
      pfam07683
      Location:274 → 373
      CobW_C; Cobalamin synthesis protein cobW C-terminal domain
      cl21455
      Location:43 → 207
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    RNA

    1. NR_178045.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2, non-coding) uses the same exon combination as variant (2, coding) but represents the allele present on the T2T-CHM13v2.0 genome assembly. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      CP068269

    2. NR_178046.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6, non-coding) uses the same exon combination as variant (6, coding) but represents the allele present on the T2T-CHM13v2.0 genome assembly. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      CP068269

    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
      68241983..68300035
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      80416505..80473721
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5JTY5.1 GenPept UniProtKB/Swiss-Prot:Q5JTY5

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