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

Gene ID: 55871, updated on 2-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
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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 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)

Genotypes

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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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

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