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ZBTB17 zinc finger and BTB domain containing 17 [ Homo sapiens (human) ]

Gene ID: 7709, updated on 22-Nov-2014
Official Symbol
ZBTB17provided by HGNC
Official Full Name
zinc finger and BTB domain containing 17provided by HGNC
Primary source
HGNC:HGNC:12936
Locus tag
RP1-134O19.2
See related
Ensembl:ENSG00000116809; HPRD:04968; MIM:604084; Vega:OTTHUMG00000009377
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
MIZ-1; ZNF60; ZNF151; pHZ-67
Summary
This gene encodes a zinc finger protein involved in the regulation of c-myc. The symbol MIZ1 has also been associated with PIAS2 which is a different gene located on chromosome 18. [provided by RefSeq, Jul 2008]
See ZBTB17 in Epigenomics, MapViewer
Location:
1p36.13
Exon count:
16
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 1 NC_000001.11 (15941869..15976132, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (16268364..16302627, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein S16 pseudogene 1 Neighboring gene uncharacterized LOC729614 Neighboring gene spen family transcriptional repressor Neighboring gene uncharacterized LOC101928531 Neighboring gene TBC1 domain family member 3H-like Neighboring gene chromosome 1 open reading frame 64 Neighboring gene heat shock 27kDa protein family, member 7 (cardiovascular)

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
sequence-specific DNA binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
activation of signaling protein activity involved in unfolded protein response TAS
Traceable Author Statement
more info
 
cellular protein metabolic process TAS
Traceable Author Statement
more info
 
ectoderm development IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum unfolded protein response TAS
Traceable Author Statement
more info
 
gastrulation with mouth forming second IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cell cycle TAS
Traceable Author Statement
more info
PubMed 
positive regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleoplasm TAS
Traceable Author Statement
more info
 
Preferred Names
zinc finger and BTB domain-containing protein 17
Names
zinc finger and BTB domain-containing protein 17
zinc finger protein 60
zinc finger protein 151 (pHZ-67)
Myc-interacting Zn finger protein-1

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_001242884.1NP_001229813.1  zinc finger and BTB domain-containing protein 17 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the shortest transcript and encodes the shortest isoform (1).
    Source sequence(s)
    AK301896, BC126163, BU634371, DB064089
    Consensus CDS
    CCDS55576.1
    UniProtKB/Swiss-Prot
    Q13105
    Related
    ENSP00000438529, OTTHUMP00000274630, ENST00000537142, OTTHUMT00000473627
    Conserved Domains (4) summary
    COG5048
    Location:224555
    COG5048; FOG: Zn-finger [General function prediction only]
    pfam00096
    Location:224246
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:238262
    zf-H2C2_2; Zinc-finger double domain
    cl19539
    Location:475523
    zf-H2C2_2; Zinc-finger double domain
  2. NM_001287603.1NP_001274532.1  zinc finger and BTB domain-containing protein 17 isoform 3

    See proteins identical to NP_001274532.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and 5' coding region, and uses an alternate in-frame splice site in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (3) is longer and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AK223618, BC143965, BC143968, DB064089
    Consensus CDS
    CCDS72712.1
    UniProtKB/Swiss-Prot
    Q13105
    UniProtKB/TrEMBL
    Q53EM1
    Related
    ENSP00000364885, ENST00000375733
    Conserved Domains (5) summary
    COG5048
    Location:306637
    COG5048; FOG: Zn-finger [General function prediction only]
    pfam00096
    Location:306328
    zf-C2H2; Zinc finger, C2H2 type
    pfam00651
    Location:14109
    BTB; BTB/POZ domain
    pfam13465
    Location:320344
    zf-H2C2_2; Zinc-finger double domain
    cl19539
    Location:557605
    zf-H2C2_2; Zinc-finger double domain
  3. NM_001287604.1NP_001274533.1  zinc finger and BTB domain-containing protein 17 isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and 5' coding region, and uses an alternate splice site in the central coding region, which results in a frameshift, compared to variant 1. The encoded isoform (4) is longer and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AK223618, BC143968, DB064089
    UniProtKB/TrEMBL
    Q53EM1
    Conserved Domains (5) summary
    smart00225
    Location:133
    BTB; Broad-Complex, Tramtrack and Bric a brac
    COG5048
    Location:230561
    COG5048; FOG: Zn-finger [General function prediction only]
    pfam00096
    Location:230252
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:244268
    zf-H2C2_2; Zinc-finger double domain
    cl19539
    Location:481529
    zf-H2C2_2; Zinc-finger double domain
  4. NM_003443.2NP_003434.2  zinc finger and BTB domain-containing protein 17 isoform 2

    See proteins identical to NP_003434.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region, and uses an alternate splice site in the central coding region, which results in a frameshift, compared to variant 1. The encoded isoform (2) is longer and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    BC126163, BQ575263, DB064089
    Consensus CDS
    CCDS165.1
    UniProtKB/Swiss-Prot
    Q13105
    Related
    ENSP00000364895, OTTHUMP00000010985, ENST00000375743, OTTHUMT00000025998
    Conserved Domains (5) summary
    COG5048
    Location:306637
    COG5048; FOG: Zn-finger [General function prediction only]
    pfam00096
    Location:306328
    zf-C2H2; Zinc finger, C2H2 type
    pfam00651
    Location:14109
    BTB; BTB/POZ domain
    pfam13465
    Location:320344
    zf-H2C2_2; Zinc-finger double domain
    cl19539
    Location:557605
    zf-H2C2_2; Zinc-finger double domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Alternate HuRef

Genomic

  1. AC_000133.1 

    Range
    14787372..14821661
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000001.11 

    Range
    15941869..15976132
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005245986.1XP_005246043.1  

    Conserved Domains (5) summary
    COG5048
    Location:243574
    COG5048; FOG: Zn-finger [General function prediction only]
    pfam00096
    Location:243265
    zf-C2H2; Zinc finger, C2H2 type
    pfam00651
    Location:1466
    BTB; BTB/POZ domain
    pfam13465
    Location:257281
    zf-H2C2_2; Zinc-finger double domain
    cl19539
    Location:494542
    zf-H2C2_2; Zinc-finger double domain
  2. XM_005245987.1XP_005246044.1  

    Conserved Domains (4) summary
    smart00225
    Location:133
    BTB; Broad-Complex, Tramtrack and Bric a brac
    COG5048
    Location:230561
    COG5048; FOG: Zn-finger [General function prediction only]
    pfam00096
    Location:230252
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:244268
    zf-H2C2_2; Zinc-finger double domain

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 

    Range
    16066899..16101159
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)