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ZNG1B Zn regulated GTPase metalloprotein activator 1B [ Homo sapiens (human) ]

Gene ID: 150472, updated on 3-Nov-2024

Summary

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Official Symbol
ZNG1Bprovided by HGNC
Official Full Name
Zn regulated GTPase metalloprotein activator 1Bprovided by HGNC
Primary source
HGNC:HGNC:17907
See related
Ensembl:ENSG00000136682 MIM:611079; AllianceGenome:HGNC:17907
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
CBWD2
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, Nov 2024]
Expression
Ubiquitous expression in thyroid (RPKM 10.0), skin (RPKM 7.9) and 25 other tissues See more
Orthologs
all
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Genomic context

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See ZNG1B in Genome Data Viewer
Location:
2q14.1
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (113437691..113496204)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (113862219..113920733)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (114195268..114253781)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2966 Neighboring gene uncharacterized LOC107985936 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11882 Neighboring gene immunoglobulin kappa variable 1-39-like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16419 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16420 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16421 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:114257455-114257992 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:114257993-114258528 Neighboring gene forkhead box D4 like 1 Neighboring gene long intergenic non-protein coding RNA 1961

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. Diverse fates of paralogs following segmental duplication of telomeric genes. Wong A, et al. Genomics, 2004 Aug. PMID 15233989
  4. CD95/Fas suppresses NF-κB activation through recruitment of KPC2 in a CD95L/FasL-independent mechanism. Guégan JP, et al. iScience, 2021 Dec 17. PMID 34917906, Free PMC Article
  5. TRIM65 regulates microRNA activity by ubiquitination of TNRC6. Li S, et al. Proc Natl Acad Sci U S A, 2014 May 13. PMID 24778252, Free PMC Article

See all (24) citations in PubMed

GeneRIFs: Gene References Into Functions

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
  
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 1B
Names
COBW domain containing 2
COBW domain-containing protein 2
cobalamin synthase W domain-containing protein 2
cobalamin synthetase W domain-containing protein 2

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_001330336.1 → NP_001317265.1  zinc-regulated GTPase metalloprotein activator 1B isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC016745, AL078621
    Consensus CDS
    CCDS82502.1
    UniProtKB/TrEMBL
    A0A0A0MRU4, C9J3G2
    Related
    ENSP00000411906.2, ENST00000416503.6
    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

  2. NM_001330337.1 → NP_001317266.1  zinc-regulated GTPase metalloprotein activator 1B isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC016745, AL078621
    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

  3. NM_001330339.1 → NP_001317268.1  zinc-regulated GTPase metalloprotein activator 1B isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC016745, AL078621
    UniProtKB/TrEMBL
    A0A0A0MRU4
    Conserved Domains (3) summary
    COG0523
    Location:11 → 340
    YejR; GTPase, G3E family [General function prediction only]
    pfam07683
    Location:238 → 337
    CobW_C; Cobalamin synthesis protein cobW C-terminal domain
    cl21455
    Location:11 → 171
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  4. NM_001330340.1 → NP_001317269.1  zinc-regulated GTPase metalloprotein activator 1B isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC016745, AL078621
    Conserved Domains (2) summary
    pfam07683
    Location:106 → 205
    CobW_C; Cobalamin synthesis protein cobW C-terminal domain
    cl21455
    Location:9 → 63
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  5. NM_001330342.1 → NP_001317271.1  zinc-regulated GTPase metalloprotein activator 1B isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC016745, AK225251, DA296279, DA347165
    Conserved Domains (2) summary
    pfam07683
    Location:106 → 205
    CobW_C; Cobalamin synthesis protein cobW C-terminal domain
    cl21455
    Location:9 → 63
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  6. NM_172003.3 → NP_742000.1  zinc-regulated GTPase metalloprotein activator 1B isoform 1

    See identical proteins and their annotated locations for NP_742000.1

    Status: VALIDATED

    Source sequence(s)
    AK290072, DA296279
    Consensus CDS
    CCDS2116.1
    UniProtKB/Swiss-Prot
    Q0VAN3, Q8IUF1
    UniProtKB/TrEMBL
    A0A0A0MRU4
    Related
    ENSP00000259199.4, ENST00000259199.9
    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_138473.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC016745, AL078621

  2. NR_138474.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC016745, AL078621
    Related
    ENST00000358604.7

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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    113437691..113496204
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011510667.2 → XP_011508969.1  zinc-regulated GTPase metalloprotein activator 1B 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

  2. XM_005263604.3 → XP_005263661.1  zinc-regulated GTPase metalloprotein activator 1B isoform X1

    UniProtKB/TrEMBL
    A0A087WWG3
    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_047443448.1 → XP_047299404.1  zinc-regulated GTPase metalloprotein activator 1B isoform X2

RNA

  1. XR_244814.2 RNA Sequence

  2. XR_427073.2 RNA Sequence

  3. XR_007069657.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    113862219..113920733
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054340653.1 → XP_054196628.1  zinc-regulated GTPase metalloprotein activator 1B isoform X3

  2. XM_054340651.1 → XP_054196626.1  zinc-regulated GTPase metalloprotein activator 1B isoform X1

  3. XM_054340652.1 → XP_054196627.1  zinc-regulated GTPase metalloprotein activator 1B isoform X2

RNA

  1. XR_008486286.1 RNA Sequence

  2. XR_008486285.1 RNA Sequence

  3. XR_008486288.1 RNA Sequence

  4. XR_008486287.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8IUF1.1 GenPept UniProtKB/Swiss-Prot:Q8IUF1

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