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ZBTB1 zinc finger and BTB domain containing 1 [ Homo sapiens (human) ]

Gene ID: 22890, updated on 13-Feb-2019

Summary

Official Symbol
ZBTB1provided by HGNC
Official Full Name
zinc finger and BTB domain containing 1provided by HGNC
Primary source
HGNC:HGNC:20259
See related
Ensembl:ENSG00000126804 MIM:616578
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
ZNF909
Expression
Ubiquitous expression in bone marrow (RPKM 14.1), lymph node (RPKM 11.3) and 25 other tissues See more
Orthologs

Genomic context

See ZBTB1 in Genome Data Viewer
Location:
14q23.3
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 14 NC_000014.9 (64504574..64533690)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (64971292..65000408)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 Neighboring gene zinc finger and BTB domain containing 25 Neighboring gene A-kinase anchoring protein 5 Neighboring gene uncharacterized LOC102723809 Neighboring gene heat shock protein family A (Hsp70) member 2 Neighboring gene protein phosphatase 1 regulatory subunit 36

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

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0997

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
 
K63-linked polyubiquitin modification-dependent protein binding IDA
Inferred from Direct Assay
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein heterodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
B cell differentiation IEA
Inferred from Electronic Annotation
more info
 
DNA repair IMP
Inferred from Mutant Phenotype
more info
PubMed 
T cell differentiation in thymus IEA
Inferred from Electronic Annotation
more info
 
cellular response to DNA damage stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to UV IMP
Inferred from Mutant Phenotype
more info
PubMed 
chromatin remodeling IMP
Inferred from Mutant Phenotype
more info
PubMed 
innate immune response IEA
Inferred from Electronic Annotation
more info
 
mRNA transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of T cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of T cell mediated immunity ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of natural killer cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of pro-T cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
protein homooligomerization IDA
Inferred from Direct Assay
more info
PubMed 
thymus development ISS
Inferred from Sequence or Structural Similarity
more info
 
translesion synthesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
nuclear body IDA
Inferred from Direct Assay
more info
PubMed 
nuclear membrane IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
zinc finger and BTB domain-containing protein 1

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_001123329.1NP_001116801.1  zinc finger and BTB domain-containing protein 1 isoform 1

    See identical proteins and their annotated locations for NP_001116801.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AW965994, BC050719, BM975910, BX248777
    Consensus CDS
    CCDS45126.1
    UniProtKB/Swiss-Prot
    Q9Y2K1
    Conserved Domains (3) summary
    sd00017
    Location:580600
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00020
    Location:688709
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00651
    Location:14109
    BTB; BTB/POZ domain
  2. NM_014950.2NP_055765.2  zinc finger and BTB domain-containing protein 1 isoform 2

    See identical proteins and their annotated locations for NP_055765.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains a distinct 3' coding region and 3' UTR, compared to variant 1. This results in a shorter isoform (2) with a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AB023214, BX248777, CN362091
    Consensus CDS
    CCDS32097.1
    UniProtKB/Swiss-Prot
    Q9Y2K1
    Related
    ENSP00000351587.3, ENST00000358738.3
    Conserved Domains (2) summary
    sd00017
    Location:536574
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00651
    Location:14109
    BTB; BTB/POZ domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p12 Primary Assembly

    Range
    64504574..64533690
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011536568.2XP_011534870.1  zinc finger and BTB domain-containing protein 1 isoform X2

    See identical proteins and their annotated locations for XP_011534870.1

    UniProtKB/Swiss-Prot
    Q9Y2K1
    Conserved Domains (2) summary
    sd00017
    Location:536574
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00651
    Location:14109
    BTB; BTB/POZ domain
  2. XM_005267410.1XP_005267467.1  zinc finger and BTB domain-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_005267467.1

    UniProtKB/Swiss-Prot
    Q9Y2K1
    Conserved Domains (3) summary
    sd00017
    Location:580600
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00020
    Location:688709
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00651
    Location:14109
    BTB; BTB/POZ domain
  3. XM_017021095.1XP_016876584.1  zinc finger and BTB domain-containing protein 1 isoform X1

    UniProtKB/Swiss-Prot
    Q9Y2K1
    Related
    ENSP00000451000.1, ENST00000554015.5
    Conserved Domains (3) summary
    sd00017
    Location:580600
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00020
    Location:688709
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00651
    Location:14109
    BTB; BTB/POZ domain
  4. XM_011536566.2XP_011534868.1  zinc finger and BTB domain-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011534868.1

    UniProtKB/Swiss-Prot
    Q9Y2K1
    Conserved Domains (3) summary
    sd00017
    Location:580600
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00020
    Location:688709
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00651
    Location:14109
    BTB; BTB/POZ domain
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