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

Gene ID: 445571, updated on 5-Mar-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 ATP binding activity. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
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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Location:
9q21.11
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (68241983..68300035)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (80416505..80473721)
105.20220307 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
  • 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 (16) 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_2023_10

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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