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    ZNG1A Zn regulated GTPase metalloprotein activator 1A [ Homo sapiens (human) ]

    Gene ID: 55871, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ZNG1Aprovided by HGNC
    Official Full Name
    Zn regulated GTPase metalloprotein activator 1Aprovided by HGNC
    Primary source
    HGNC:HGNC:17134
    See related
    Ensembl:ENSG00000172785 MIM:611078; AllianceGenome:HGNC:17134
    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
    COBP; CBWD1
    Summary
    Predicted to enable GTPase activity and zinc chaperone activity. Involved in kidney development. 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 21.1), adrenal (RPKM 19.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ZNG1A in Genome Data Viewer
    Location:
    9p24.3
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (120837..179056, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (114953..173385, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (120837..179056, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19719 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28114 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:114547-115153 Neighboring gene long intergenic non-protein coding RNA 1388 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:116925-117468 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:117469-118012 Neighboring gene uncharacterized LOC105375942 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139299-139912 Neighboring gene forkhead box D4 Neighboring gene VISTA enhancer hs628 Neighboring gene uncharacterized LOC105375943 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19720 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19721 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19722 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19723 Neighboring gene DOCK8 antisense RNA 1 Neighboring gene dedicator of cytokinesis 8

    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. Identification of dopamine responsive mRNAs in glial cells by suppression subtractive hybridization. Shi J, et al. Brain Res, 2001 Aug 10. PMID 11489251
    3. Deletion in the Cobalamin Synthetase W Domain-Containing Protein 1 Gene Is associated with Congenital Anomalies of the Kidney and Urinary Tract. Kanda S, et al. J Am Soc Nephrol, 2020 Jan. PMID 31862704, Free PMC Article
    4. Zn-regulated GTPase metalloprotein activator 1 modulates vertebrate zinc homeostasis. Weiss A, et al. Cell, 2022 Jun 9. PMID 35584702, Free PMC Article
    5. 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

    See all (35) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The identification of a deletion in CBWD1 gene in two siblings with CAKUT implies a role for CBWD1 in the etiology of some cases of CAKUT
      Title: Deletion in the Cobalamin Synthetase W Domain-Containing Protein 1 Gene Is associated with Congenital Anomalies of the Kidney and Urinary Tract.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    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

    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 
    Process Evidence Code Pubs
    involved_in kidney development IMP
    Inferred from Mutant Phenotype
    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 1A
    Names
    COBW domain containing 1
    COBW domain-containing protein 1
    COBW-like protein
    NPC-A-6 COBW domain-containing protein 1
    cobalamin synthase W domain-containing protein 1
    cobalamin synthetase W domain-containing protein 1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001145355.2 → NP_001138827.1  zinc-regulated GTPase metalloprotein activator 1A isoform 2

      See identical proteins and their annotated locations for NP_001138827.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) includes an alternate exon in the 5' coding region and initiates translation at an alternate start codon, compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AL356244, AL449043
      Consensus CDS
      CCDS47948.1
      UniProtKB/TrEMBL
      A0A0A0MRU4
      Related
      ENSP00000323433.10, ENST00000314367.14
      Conserved Domains (1) summary
      COG0523
      Location:11 → 340
      YejR; GTPase, G3E family [General function prediction only]

    2. NM_001145356.2 → NP_001138828.1  zinc-regulated GTPase metalloprotein activator 1A isoform 3

      See identical proteins and their annotated locations for NP_001138828.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the central coding region, compared to variant 1. The resulting isoform (3) lacks an internal segment, compared to isoform 1.
      Source sequence(s)
      AL356244, AL449043
      Consensus CDS
      CCDS47947.1
      UniProtKB/TrEMBL
      A0A0A0MRU4
      Related
      ENSP00000371885.4, ENST00000382447.8
      Conserved Domains (3) summary
      COG0523
      Location:42 → 357
      YejR; GTPase, G3E family [General function prediction only]
      pfam07683
      Location:255 → 354
      CobW_C; Cobalamin synthesis protein cobW C-terminal domain
      cl21455
      Location:43 → 207
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    3. NM_001399796.1 → NP_001386725.1  zinc-regulated GTPase metalloprotein activator 1A isoform 4

      Status: VALIDATED

      Source sequence(s)
      AL356244
      Consensus CDS
      CCDS94370.1
      Related
      ENSP00000371830.1, ENST00000382393.2

    4. NM_001399797.1 → NP_001386726.1  zinc-regulated GTPase metalloprotein activator 1A isoform 5

      Status: VALIDATED

      Source sequence(s)
      AL356244
      Consensus CDS
      CCDS94369.1
      UniProtKB/TrEMBL
      A0A0B4J1T6
      Related
      ENSP00000371826.1, ENST00000382389.5

    5. NM_001399798.1 → NP_001386727.1  zinc-regulated GTPase metalloprotein activator 1A isoform 6

      Status: VALIDATED

      Source sequence(s)
      AL356244, AL449043

    6. NM_001399799.1 → NP_001386728.1  zinc-regulated GTPase metalloprotein activator 1A isoform 7

      Status: VALIDATED

      Source sequence(s)
      AL356244, AL449043

    7. NM_001399800.1 → NP_001386729.1  zinc-regulated GTPase metalloprotein activator 1A isoform 8

      Status: VALIDATED

      Source sequence(s)
      AL356244, AL449043

    8. NM_001399801.1 → NP_001386730.1  zinc-regulated GTPase metalloprotein activator 1A isoform 9

      Status: VALIDATED

      Source sequence(s)
      AL356244, AL449043

    9. NM_001399802.1 → NP_001386731.1  zinc-regulated GTPase metalloprotein activator 1A isoform 10

      Status: VALIDATED

      Source sequence(s)
      AL356244, AL449043

    10. NM_001399803.1 → NP_001386732.1  zinc-regulated GTPase metalloprotein activator 1A isoform 11

      Status: VALIDATED

      Source sequence(s)
      AL356244, AL449043

    11. NM_001399804.1 → NP_001386733.1  zinc-regulated GTPase metalloprotein activator 1A isoform 12

      Status: VALIDATED

      Source sequence(s)
      AL356244, AL449043

    12. NM_001399805.1 → NP_001386734.1  zinc-regulated GTPase metalloprotein activator 1A isoform 13

      Status: VALIDATED

      Source sequence(s)
      AL356244, AL449043

    13. NM_001399807.1 → NP_001386736.1  zinc-regulated GTPase metalloprotein activator 1A isoform 14

      Status: VALIDATED

      Source sequence(s)
      AL356244, AL449043

    14. NM_001399808.1 → NP_001386737.1  zinc-regulated GTPase metalloprotein activator 1A isoform 15

      Status: VALIDATED

      Source sequence(s)
      AL356244, AL449043

    15. NM_001399809.1 → NP_001386738.1  zinc-regulated GTPase metalloprotein activator 1A isoform 16

      Status: VALIDATED

      Source sequence(s)
      AL356244, AL449043

    16. NM_018491.5 → NP_060961.3  zinc-regulated GTPase metalloprotein activator 1A isoform 1

      See identical proteins and their annotated locations for NP_060961.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AL356244, AL449043
      Consensus CDS
      CCDS6438.1
      UniProtKB/Swiss-Prot
      A2RU55, A8K3N3, B0AZR4, Q49AJ1, Q5VVK2, Q6VBU6, Q7Z5Z0, Q7Z652, Q9BRT8, Q9BY38, Q9NYD0
      UniProtKB/TrEMBL
      A0A0A0MRU4
      Related
      ENSP00000348915.4, ENST00000356521.9
      Conserved Domains (2) summary
      COG0523
      Location:42 → 376
      YejR; GTPase, G3E family [General function prediction only]
      cl26601
      Location:19 → 62
      ABC_ATPase; Predicted ATPase of the ABC class

    RNA

    1. NR_174353.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL356244, AL449043

    2. NR_174354.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL356244

    3. NR_174355.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL356244, AL449043

    4. NR_174356.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL356244, AL449043

    5. NR_174357.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL356244, AL449043

    6. NR_174358.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL356244, AL449043

    7. NR_174359.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL356244, AL449043

    8. NR_174360.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL356244, AL449043

    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
      120837..179056 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047423593.1 → XP_047279549.1  zinc-regulated GTPase metalloprotein activator 1A isoform X2

    2. XM_005251515.2 → XP_005251572.1  zinc-regulated GTPase metalloprotein activator 1A isoform X1

      UniProtKB/TrEMBL
      A0A087WWG3, A0A087X140
      Related
      ENSP00000483870.1, ENST00000613508.4
      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

    3. XM_011517964.4 → XP_011516266.1  zinc-regulated GTPase metalloprotein activator 1A isoform X4

      UniProtKB/TrEMBL
      A0A087WZQ3
      Related
      ENSP00000482821.1, ENST00000616944.4
      Conserved Domains (2) summary
      COG0523
      Location:42 → 208
      YejR; GTPase, G3E family [General function prediction only]
      cl21455
      Location:43 → 181
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    4. XM_005251517.6 → XP_005251574.1  zinc-regulated GTPase metalloprotein activator 1A isoform X3

      UniProtKB/TrEMBL
      F2Z2T4
      Related
      ENSP00000366666.3, ENST00000377447.7
      Conserved Domains (2) summary
      COG0523
      Location:42 → 237
      YejR; GTPase, G3E family [General function prediction only]
      cl21455
      Location:43 → 207
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    RNA

    1. XR_001746353.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      114953..173385 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054363285.1 → XP_054219260.1  zinc-regulated GTPase metalloprotein activator 1A isoform X2

    2. XM_054363284.1 → XP_054219259.1  zinc-regulated GTPase metalloprotein activator 1A isoform X1

      UniProtKB/TrEMBL
      A0A087X140

    3. XM_054363287.1 → XP_054219262.1  zinc-regulated GTPase metalloprotein activator 1A isoform X4

    4. XM_054363286.1 → XP_054219261.1  zinc-regulated GTPase metalloprotein activator 1A isoform X3

    RNA

    1. XR_008488047.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BRT8.1 GenPept UniProtKB/Swiss-Prot:Q9BRT8

    Gene LinkOut

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