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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
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Genomic context

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See ZBBX in Genome Data Viewer
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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