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    ZBBX zinc finger B-box domain containing [ Homo sapiens (human) ]

    Gene ID: 79740, updated on 3-Apr-2024

    Summary

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    Official Symbol
    ZBBXprovided by HGNC
    Official Full Name
    zinc finger B-box domain containingprovided by HGNC
    Primary source
    HGNC:HGNC:26245
    See related
    Ensembl:ENSG00000169064 AllianceGenome:HGNC:26245
    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
    Summary
    Predicted to enable zinc ion binding activity. Predicted to be involved in cilium movement. Predicted to be active in motile cilium. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Restricted expression toward testis (RPKM 11.7) See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    3q26.1
    Exon count:
    34
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (167178402..167407886, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (169962186..170191769, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (166957631..167125674, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374196 Neighboring gene peptidylprolyl isomerase A pseudogene 74 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:166832178-166832678 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:166832679-166833179 Neighboring gene long intergenic non-protein coding RNA 1327 Neighboring gene uncharacterized LOC105374197 Neighboring gene serpin family I member 2 Neighboring gene WD repeat domain 49 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_66573 Neighboring gene NANOG hESC enhancer GRCh37_chr3:167370944-167371467 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:167371468-167371990

    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. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
    2. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
    4. Architecture of the human interactome defines protein communities and disease networks. Huttlin EL, et al. Nature, 2017 May 25. PMID 28514442, Free PMC Article
    5. Normalization and subtraction: two approaches to facilitate gene discovery. Bonaldo MF, et al. Genome Res, 1996 Sep. PMID 8889548

    See all (8) 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

    Clone Names

    • FLJ23049

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger B-box 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_001199201.2 → NP_001186130.1  zinc finger B-box domain-containing protein 1 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC107311, AC117463, BC034229, BC144444, CB321707, DA590037, DB078376
      Consensus CDS
      CCDS56296.1
      UniProtKB/TrEMBL
      B7ZMD2
      Related
      ENSP00000502603.1, ENST00000675490.1
      Conserved Domains (1) summary
      smart00336
      Location:133 → 175
      BBOX; B-Box-type zinc finger

    2. NM_001199202.2 → NP_001186131.1  zinc finger B-box domain-containing protein 1 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an exon in the 5' UTR and has an additional exon in the 5' coding region which results in a downstream AUG start codon, as compared to variant 1. The resulting isoform (3) is shorter at the N-terminus, as compared to isoform 1.
      Source sequence(s)
      AC107311, AC117463, BC034229, BC144444, CB321707, DA590037
      Consensus CDS
      CCDS56295.1
      UniProtKB/TrEMBL
      B7ZMD2
      Related
      ENSP00000376517.1, ENST00000392764.5
      Conserved Domains (1) summary
      smart00336
      Location:104 → 146
      BBOX; B-Box-type zinc finger

    3. NM_001377489.1 → NP_001364418.1  zinc finger B-box domain-containing protein 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC107311, AC117463
      Consensus CDS
      CCDS3199.2
      UniProtKB/Swiss-Prot
      A8MT70, A8MV69, B3KSC1, B5MDJ6, F2Z370, Q9H5T8
      Related
      ENSP00000390232.3, ENST00000455345.7
      Conserved Domains (1) summary
      cd19818
      Location:133 → 175
      Bbox1_ZBBX; B-box-type 1 zinc finger found in zinc finger B-box domain-containing protein 1 (ZBBX) and similar proteins

    4. NM_024687.4 → NP_078963.2  zinc finger B-box domain-containing protein 1 isoform 2

      See identical proteins and their annotated locations for NP_078963.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the CDS, as compared to variant 1. The resulting isoform (2) lacks an internal segment, as compared to isoform 1.
      Source sequence(s)
      AC107311, AC117463, AK093296, BC034229, CB321707, DA590037, DB078376
      Consensus CDS
      CCDS3199.2
      UniProtKB/Swiss-Prot
      A8MT70, A8MV69, B3KSC1, B5MDJ6, F2Z370, Q9H5T8
      Related
      ENSP00000376519.2, ENST00000392766.6
      Conserved Domains (1) summary
      cd19818
      Location:133 → 175
      Bbox1_ZBBX; B-box-type 1 zinc finger found in zinc finger B-box domain-containing protein 1 (ZBBX) and similar proteins

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      167178402..167407886 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024453753.2 → XP_024309521.1  zinc finger B-box domain-containing protein 1 isoform X10

      Conserved Domains (2) summary
      smart00336
      Location:133 → 175
      BBOX; B-Box-type zinc finger
      cl08315
      Location:456 → 559
      CAP_GLY; CAP-Gly domain

    2. XM_047448953.1 → XP_047304909.1  zinc finger B-box domain-containing protein 1 isoform X7

      UniProtKB/Swiss-Prot
      A8MT70, A8MV69, B3KSC1, B5MDJ6, F2Z370, Q9H5T8

    3. XM_047448952.1 → XP_047304908.1  zinc finger B-box domain-containing protein 1 isoform X5

      Related
      ENSP00000305065.5, ENST00000307529.9

    4. XM_017007189.3 → XP_016862678.1  zinc finger B-box domain-containing protein 1 isoform X7

      UniProtKB/Swiss-Prot
      A8MT70, A8MV69, B3KSC1, B5MDJ6, F2Z370, Q9H5T8
      Conserved Domains (1) summary
      cd19818
      Location:133 → 175
      Bbox1_ZBBX; B-box-type 1 zinc finger found in zinc finger B-box domain-containing protein 1 (ZBBX) and similar proteins

    5. XM_011513145.4 → XP_011511447.2  zinc finger B-box domain-containing protein 1 isoform X1

    6. XM_011513148.3 → XP_011511450.2  zinc finger B-box domain-containing protein 1 isoform X2

    7. XM_017007188.2 → XP_016862677.1  zinc finger B-box domain-containing protein 1 isoform X6

    8. XM_017007187.2 → XP_016862676.1  zinc finger B-box domain-containing protein 1 isoform X3

    9. XM_017007186.2 → XP_016862675.1  zinc finger B-box domain-containing protein 1 isoform X1

    10. XM_047448951.1 → XP_047304907.1  zinc finger B-box domain-containing protein 1 isoform X4

    11. XM_047448954.1 → XP_047304910.1  zinc finger B-box domain-containing protein 1 isoform X8

    12. XM_011513152.2 → XP_011511454.2  zinc finger B-box domain-containing protein 1 isoform X11

    13. XM_011513153.3 → XP_011511455.2  zinc finger B-box domain-containing protein 1 isoform X12

    14. XM_047448955.1 → XP_047304911.1  zinc finger B-box domain-containing protein 1 isoform X9

    15. XM_011513156.2 → XP_011511458.1  zinc finger B-box domain-containing protein 1 isoform X13

      See identical proteins and their annotated locations for XP_011511458.1

      UniProtKB/TrEMBL
      A0A6Q8PGH4
      Related
      ENSP00000502279.1, ENST00000674903.1
      Conserved Domains (1) summary
      smart00336
      Location:133 → 175
      BBOX; B-Box-type zinc finger

    16. XM_011513155.2 → XP_011511457.1  zinc finger B-box domain-containing protein 1 isoform X13

      See identical proteins and their annotated locations for XP_011511457.1

      UniProtKB/TrEMBL
      A0A6Q8PGH4
      Conserved Domains (1) summary
      smart00336
      Location:133 → 175
      BBOX; B-Box-type zinc finger

    RNA

    1. XR_924174.3 RNA Sequence

    2. XR_924173.2 RNA Sequence

    3. XR_924177.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      169962186..170191769 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054347906.1 → XP_054203881.1  zinc finger B-box domain-containing protein 1 isoform X10

    2. XM_054347902.1 → XP_054203877.1  zinc finger B-box domain-containing protein 1 isoform X7

    3. XM_054347900.1 → XP_054203875.1  zinc finger B-box domain-containing protein 1 isoform X5

      UniProtKB/TrEMBL
      B7ZMD2

    4. XM_054347903.1 → XP_054203878.1  zinc finger B-box domain-containing protein 1 isoform X7

    5. XM_054347896.1 → XP_054203871.1  zinc finger B-box domain-containing protein 1 isoform X1

    6. XM_054347897.1 → XP_054203872.1  zinc finger B-box domain-containing protein 1 isoform X2

    7. XM_054347901.1 → XP_054203876.1  zinc finger B-box domain-containing protein 1 isoform X6

    8. XM_054347898.1 → XP_054203873.1  zinc finger B-box domain-containing protein 1 isoform X3

    9. XM_054347895.1 → XP_054203870.1  zinc finger B-box domain-containing protein 1 isoform X1

    10. XM_054347899.1 → XP_054203874.1  zinc finger B-box domain-containing protein 1 isoform X4

    11. XM_054347904.1 → XP_054203879.1  zinc finger B-box domain-containing protein 1 isoform X8

    12. XM_054347907.1 → XP_054203882.1  zinc finger B-box domain-containing protein 1 isoform X11

    13. XM_054347908.1 → XP_054203883.1  zinc finger B-box domain-containing protein 1 isoform X12

    14. XM_054347905.1 → XP_054203880.1  zinc finger B-box domain-containing protein 1 isoform X9

    15. XM_054347910.1 → XP_054203885.1  zinc finger B-box domain-containing protein 1 isoform X13

    16. XM_054347909.1 → XP_054203884.1  zinc finger B-box domain-containing protein 1 isoform X13

    RNA

    1. XR_008486796.1 RNA Sequence

    2. XR_008486795.1 RNA Sequence

    3. XR_008486797.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A8MT70.3 GenPept UniProtKB/Swiss-Prot:A8MT70

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