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

Gene ID: 79740, updated on 25-Jan-2022

Summary

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, Nov 2021]
Expression
Restricted expression toward testis (RPKM 11.7) See more
Orthologs
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Genomic context

See ZBBX in Genome Data Viewer
Location:
3q26.1
Exon count:
34
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (167178399..167407886, complement)
105.20201022 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 long intergenic non-protein coding RNA 1327 Neighboring gene uncharacterized LOC105374197 Neighboring gene serpin family I member 2 Neighboring gene WD repeat domain 49

Genomic regions, transcripts, and products

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ23049

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in cilium movement IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in motile cilium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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_001199201.2NP_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:133175
    BBOX; B-Box-type zinc finger
  2. NM_001199202.2NP_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:104146
    BBOX; B-Box-type zinc finger
  3. NM_001377489.1NP_001364418.1  zinc finger B-box domain-containing protein 1 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC107311, AC117463
    Related
    ENSP00000390232.3, ENST00000455345.7
    Conserved Domains (1) summary
    cd19818
    Location:133175
    Bbox1_ZBBX; B-box-type 1 zinc finger found in zinc finger B-box domain-containing protein 1 (ZBBX) and similar proteins
  4. NM_024687.4NP_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
    Related
    ENSP00000376519.2, ENST00000392766.6
    Conserved Domains (1) summary
    cd19818
    Location:133175
    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: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    167178399..167407886 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024453753.1XP_024309521.1  zinc finger B-box domain-containing protein 1 isoform X9

    Conserved Domains (2) summary
    smart00336
    Location:133175
    BBOX; B-Box-type zinc finger
    cl08315
    Location:456559
    CAP_GLY; CAP-Gly domain
  2. XM_011513151.3XP_011511453.2  zinc finger B-box domain-containing protein 1 isoform X8

  3. XM_011513145.3XP_011511447.2  zinc finger B-box domain-containing protein 1 isoform X1

  4. XM_011513148.2XP_011511450.2  zinc finger B-box domain-containing protein 1 isoform X2

  5. XM_017007188.1XP_016862677.1  zinc finger B-box domain-containing protein 1 isoform X6

  6. XM_017007187.1XP_016862676.1  zinc finger B-box domain-containing protein 1 isoform X3

  7. XM_017007186.1XP_016862675.1  zinc finger B-box domain-containing protein 1 isoform X1

  8. XM_011513149.2XP_011511451.2  zinc finger B-box domain-containing protein 1 isoform X5

  9. XM_011513152.2XP_011511454.2  zinc finger B-box domain-containing protein 1 isoform X10

  10. XM_011513153.2XP_011511455.2  zinc finger B-box domain-containing protein 1 isoform X11

  11. XM_017007189.2XP_016862678.1  zinc finger B-box domain-containing protein 1 isoform X7

    UniProtKB/Swiss-Prot
    A8MT70
    Conserved Domains (1) summary
    cd19818
    Location:133175
    Bbox1_ZBBX; B-box-type 1 zinc finger found in zinc finger B-box domain-containing protein 1 (ZBBX) and similar proteins
  12. XM_011513144.1XP_011511446.1  zinc finger B-box domain-containing protein 1 isoform X4

    See identical proteins and their annotated locations for XP_011511446.1

    Conserved Domains (1) summary
    smart00336
    Location:133175
    BBOX; B-Box-type zinc finger
  13. XM_011513156.1XP_011511458.1  zinc finger B-box domain-containing protein 1 isoform X12

    See identical proteins and their annotated locations for XP_011511458.1

    Related
    ENSP00000502279.1, ENST00000674903.1
    Conserved Domains (1) summary
    smart00336
    Location:133175
    BBOX; B-Box-type zinc finger
  14. XM_011513155.1XP_011511457.1  zinc finger B-box domain-containing protein 1 isoform X12

    See identical proteins and their annotated locations for XP_011511457.1

    Conserved Domains (1) summary
    smart00336
    Location:133175
    BBOX; B-Box-type zinc finger

RNA

  1. XR_924174.2 RNA Sequence

  2. XR_001740269.1 RNA Sequence

  3. XR_924172.1 RNA Sequence

  4. XR_924173.1 RNA Sequence

  5. XR_924177.2 RNA Sequence

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