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BBX BBX high mobility group box domain containing [ Homo sapiens (human) ]

Gene ID: 56987, updated on 21-Dec-2019

Summary

Official Symbol
BBXprovided by HGNC
Official Full Name
BBX high mobility group box domain containingprovided by HGNC
Primary source
HGNC:HGNC:14422
See related
Ensembl:ENSG00000114439
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
HBP2; ARTC1; MDS001; HSPC339
Expression
Broad expression in testis (RPKM 26.5), thyroid (RPKM 14.4) and 24 other tissues See more
Orthologs

Genomic context

See BBX in Genome Data Viewer
Location:
3q13.12
Exon count:
30
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (107522962..107811339)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (107241783..107530176)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101929579 Neighboring gene long intergenic non-protein coding RNA 1990 Neighboring gene long intergenic non-protein coding RNA 635 Neighboring gene long intergenic non-protein coding RNA 636

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
Process Evidence Code Pubs
bone development IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
HMG box transcription factor BBX
Names
Ag recognized by Treg cells 1
BBX, HMG-box containing
HMG box-containing protein 2
bobby sox homolog
x 001 protein

NCBI Reference Sequences (RefSeq)

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_001142568.3NP_001136040.1  HMG box transcription factor BBX isoform 1

    See identical proteins and their annotated locations for NP_001136040.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC072044, AC117477, AI168295, AK291757, AW131333, DA218136
    Consensus CDS
    CCDS46881.1
    UniProtKB/Swiss-Prot
    Q8WY36
    UniProtKB/TrEMBL
    A8K6U2
    Related
    ENSP00000319974.8, ENST00000325805.13
    Conserved Domains (2) summary
    cd01388
    Location:79150
    SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
    pfam09667
    Location:191323
    DUF2028; Domain of unknown function (DUF2028)
  2. NM_001276286.2NP_001263215.1  HMG box transcription factor BBX isoform 3

    See identical proteins and their annotated locations for NP_001263215.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an alternate exon in the coding region, which results in a frameshift, compared to variant 1. The resulting isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC117477, AI168295, AW131333, BC131718, DA218136
    Consensus CDS
    CCDS63712.1
    UniProtKB/Swiss-Prot
    Q8WY36
    Related
    ENSP00000403860.2, ENST00000416476.6
    Conserved Domains (2) summary
    cd01388
    Location:79150
    SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
    pfam09667
    Location:191303
    DUF2028; Domain of unknown function (DUF2028)
  3. NM_020235.7NP_064620.2  HMG box transcription factor BBX isoform 2

    See identical proteins and their annotated locations for NP_064620.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The resulting isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AC117477, AF454941, AI168295, AW131333
    Consensus CDS
    CCDS2950.1
    UniProtKB/Swiss-Prot
    Q8WY36
    Related
    ENSP00000408358.2, ENST00000415149.6
    Conserved Domains (2) summary
    cd01388
    Location:79150
    SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
    pfam09667
    Location:191323
    DUF2028; Domain of unknown function (DUF2028)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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
    107522962..107811339
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024453666.1XP_024309434.1  HMG box transcription factor BBX isoform X13

    Conserved Domains (2) summary
    cd01388
    Location:79150
    SOX-TCF_HMG-box; class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and vertebrates, and ...
    pfam09667
    Location:191303
    DUF2028; Domain of unknown function (DUF2028)
  2. XM_017006882.1XP_016862371.1  HMG box transcription factor BBX isoform X7

    UniProtKB/Swiss-Prot
    Q8WY36
    Conserved Domains (2) summary
    cd01388
    Location:79150
    SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
    pfam09667
    Location:191323
    DUF2028; Domain of unknown function (DUF2028)
  3. XM_005247644.4XP_005247701.1  HMG box transcription factor BBX isoform X3

    See identical proteins and their annotated locations for XP_005247701.1

    UniProtKB/Swiss-Prot
    Q8WY36
    Related
    ENSP00000385317.1, ENST00000402543.5
    Conserved Domains (2) summary
    cd01388
    Location:79150
    SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
    pfam09667
    Location:191323
    DUF2028; Domain of unknown function (DUF2028)
  4. XM_024453660.1XP_024309428.1  HMG box transcription factor BBX isoform X7

    Conserved Domains (2) summary
    cd01388
    Location:79150
    SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
    pfam09667
    Location:191323
    DUF2028; Domain of unknown function (DUF2028)
  5. XM_011513004.2XP_011511306.1  HMG box transcription factor BBX isoform X7

    See identical proteins and their annotated locations for XP_011511306.1

    UniProtKB/Swiss-Prot
    Q8WY36
    Related
    ENSP00000385530.1, ENST00000406780.5
    Conserved Domains (2) summary
    cd01388
    Location:79150
    SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
    pfam09667
    Location:191323
    DUF2028; Domain of unknown function (DUF2028)
  6. XM_017006881.2XP_016862370.1  HMG box transcription factor BBX isoform X3

    UniProtKB/Swiss-Prot
    Q8WY36
    Conserved Domains (2) summary
    cd01388
    Location:79150
    SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
    pfam09667
    Location:191323
    DUF2028; Domain of unknown function (DUF2028)
  7. XM_024453646.1XP_024309414.1  HMG box transcription factor BBX isoform X3

    Conserved Domains (2) summary
    cd01388
    Location:79150
    SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
    pfam09667
    Location:191323
    DUF2028; Domain of unknown function (DUF2028)
  8. XM_024453649.1XP_024309417.1  HMG box transcription factor BBX isoform X3

    Conserved Domains (2) summary
    cd01388
    Location:79150
    SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
    pfam09667
    Location:191323
    DUF2028; Domain of unknown function (DUF2028)
  9. XM_011513000.2XP_011511302.1  HMG box transcription factor BBX isoform X3

    See identical proteins and their annotated locations for XP_011511302.1

    UniProtKB/Swiss-Prot
    Q8WY36
    Conserved Domains (2) summary
    cd01388
    Location:79150
    SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
    pfam09667
    Location:191323
    DUF2028; Domain of unknown function (DUF2028)
  10. XM_011513001.2XP_011511303.1  HMG box transcription factor BBX isoform X3

    See identical proteins and their annotated locations for XP_011511303.1

    UniProtKB/Swiss-Prot
    Q8WY36
    Conserved Domains (2) summary
    cd01388
    Location:79150
    SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
    pfam09667
    Location:191323
    DUF2028; Domain of unknown function (DUF2028)
  11. XM_024453648.1XP_024309416.1  HMG box transcription factor BBX isoform X3

    Conserved Domains (2) summary
    cd01388
    Location:79150
    SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
    pfam09667
    Location:191323
    DUF2028; Domain of unknown function (DUF2028)
  12. XM_024453647.1XP_024309415.1  HMG box transcription factor BBX isoform X3

    Conserved Domains (2) summary
    cd01388
    Location:79150
    SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
    pfam09667
    Location:191323
    DUF2028; Domain of unknown function (DUF2028)
  13. XM_024453654.1XP_024309422.1  HMG box transcription factor BBX isoform X3

    Conserved Domains (2) summary
    cd01388
    Location:79150
    SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
    pfam09667
    Location:191323
    DUF2028; Domain of unknown function (DUF2028)
  14. XM_005247642.4XP_005247699.1  HMG box transcription factor BBX isoform X3

    See identical proteins and their annotated locations for XP_005247699.1

    UniProtKB/Swiss-Prot
    Q8WY36
    Conserved Domains (2) summary
    cd01388
    Location:79150
    SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
    pfam09667
    Location:191323
    DUF2028; Domain of unknown function (DUF2028)
  15. XM_005247643.4XP_005247700.1  HMG box transcription factor BBX isoform X3

    See identical proteins and their annotated locations for XP_005247700.1

    UniProtKB/Swiss-Prot
    Q8WY36
    Conserved Domains (2) summary
    cd01388
    Location:79150
    SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
    pfam09667
    Location:191323
    DUF2028; Domain of unknown function (DUF2028)
  16. XM_024453655.1XP_024309423.1  HMG box transcription factor BBX isoform X3

    Conserved Domains (2) summary
    cd01388
    Location:79150
    SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
    pfam09667
    Location:191323
    DUF2028; Domain of unknown function (DUF2028)
  17. XM_024453659.1XP_024309427.1  HMG box transcription factor BBX isoform X7

    Conserved Domains (2) summary
    cd01388
    Location:79150
    SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
    pfam09667
    Location:191323
    DUF2028; Domain of unknown function (DUF2028)
  18. XM_024453653.1XP_024309421.1  HMG box transcription factor BBX isoform X3

    Conserved Domains (2) summary
    cd01388
    Location:79150
    SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
    pfam09667
    Location:191323
    DUF2028; Domain of unknown function (DUF2028)
  19. XM_024453651.1XP_024309419.1  HMG box transcription factor BBX isoform X3

    Conserved Domains (2) summary
    cd01388
    Location:79150
    SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
    pfam09667
    Location:191323
    DUF2028; Domain of unknown function (DUF2028)
  20. XM_024453652.1XP_024309420.1  HMG box transcription factor BBX isoform X3

    Conserved Domains (2) summary
    cd01388
    Location:79150
    SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
    pfam09667
    Location:191323
    DUF2028; Domain of unknown function (DUF2028)
  21. XM_024453650.1XP_024309418.1  HMG box transcription factor BBX isoform X3

    Conserved Domains (2) summary
    cd01388
    Location:79150
    SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
    pfam09667
    Location:191323
    DUF2028; Domain of unknown function (DUF2028)
  22. XM_024453663.1XP_024309431.1  HMG box transcription factor BBX isoform X10

    Conserved Domains (2) summary
    cd01388
    Location:91162
    SOX-TCF_HMG-box; class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and vertebrates, and ...
    pfam09667
    Location:203315
    DUF2028; Domain of unknown function (DUF2028)
  23. XM_024453645.1XP_024309413.1  HMG box transcription factor BBX isoform X2

    Conserved Domains (2) summary
    cd01388
    Location:91162
    SOX-TCF_HMG-box; class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and vertebrates, and ...
    pfam09667
    Location:203335
    DUF2028; Domain of unknown function (DUF2028)
  24. XM_024453664.1XP_024309432.1  HMG box transcription factor BBX isoform X11

    Conserved Domains (2) summary
    cd01388
    Location:91162
    SOX-TCF_HMG-box; class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and vertebrates, and ...
    pfam09667
    Location:203315
    DUF2028; Domain of unknown function (DUF2028)
  25. XM_024453656.1XP_024309424.1  HMG box transcription factor BBX isoform X4

    Conserved Domains (2) summary
    cd01388
    Location:91162
    SOX-TCF_HMG-box; class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and vertebrates, and ...
    pfam09667
    Location:203335
    DUF2028; Domain of unknown function (DUF2028)
  26. XM_024453658.1XP_024309426.1  HMG box transcription factor BBX isoform X6

    Conserved Domains (2) summary
    cd01388
    Location:91162
    SOX-TCF_HMG-box; class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and vertebrates, and ...
    pfam09667
    Location:203335
    DUF2028; Domain of unknown function (DUF2028)
  27. XM_024453667.1XP_024309435.1  HMG box transcription factor BBX isoform X14

    Conserved Domains (2) summary
    cd01388
    Location:91162
    SOX-TCF_HMG-box; class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and vertebrates, and ...
    pfam09667
    Location:203315
    DUF2028; Domain of unknown function (DUF2028)
  28. XM_024453661.1XP_024309429.1  HMG box transcription factor BBX isoform X8

    Conserved Domains (2) summary
    cd01388
    Location:91162
    SOX-TCF_HMG-box; class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and vertebrates, and ...
    pfam09667
    Location:203335
    DUF2028; Domain of unknown function (DUF2028)
  29. XM_024453644.1XP_024309412.1  HMG box transcription factor BBX isoform X1

    Conserved Domains (2) summary
    cd01388
    Location:91162
    SOX-TCF_HMG-box; class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and vertebrates, and ...
    pfam09667
    Location:203335
    DUF2028; Domain of unknown function (DUF2028)
  30. XM_024453662.1XP_024309430.1  HMG box transcription factor BBX isoform X9

    Conserved Domains (2) summary
    cd01388
    Location:91162
    SOX-TCF_HMG-box; class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and vertebrates, and ...
    pfam09667
    Location:203315
    DUF2028; Domain of unknown function (DUF2028)
  31. XM_024453665.1XP_024309433.1  HMG box transcription factor BBX isoform X12

    Conserved Domains (2) summary
    cd01388
    Location:91162
    SOX-TCF_HMG-box; class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and vertebrates, and ...
    pfam09667
    Location:203315
    DUF2028; Domain of unknown function (DUF2028)
  32. XM_024453657.1XP_024309425.1  HMG box transcription factor BBX isoform X5

    Conserved Domains (2) summary
    cd01388
    Location:91162
    SOX-TCF_HMG-box; class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and vertebrates, and ...
    pfam09667
    Location:203335
    DUF2028; Domain of unknown function (DUF2028)
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