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

    Gene ID: 150472, updated on 27-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
    • 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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    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
    		  
    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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