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ZBTB48 zinc finger and BTB domain containing 48 [ Homo sapiens (human) ]

Gene ID: 3104, updated on 1-Jun-2020

Summary

Official Symbol
ZBTB48provided by HGNC
Official Full Name
zinc finger and BTB domain containing 48provided by HGNC
Primary source
HGNC:HGNC:4930
See related
Ensembl:ENSG00000204859 MIM:165270
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
HKR3; TZAP; ZNF855; pp9964
Expression
Ubiquitous expression in testis (RPKM 9.3), spleen (RPKM 7.4) and 25 other tissues See more
Orthologs

Genomic context

See ZBTB48 in Genome Data Viewer
Location:
1p36.31
Exon count:
12
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (6579994..6589280)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (6640051..6649340)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene nucleolar protein 9 Neighboring gene RNA, U6 small nuclear 731, pseudogene Neighboring gene taste 1 receptor member 1 Neighboring gene uncharacterized LOC107984912 Neighboring gene kelch like family member 21 Neighboring gene uncharacterized LOC107984913

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

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 transcription factor activity TAS
Traceable Author Statement
more info
PubMed 
double-stranded telomeric DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
positive regulation of transcription, DNA-templated IMP
Inferred from Mutant Phenotype
more info
PubMed 
telomere maintenance via telomere lengthening IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
chromosome, telomeric region IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
telomere zinc finger-associated protein
Names
GLI-Kruppel family member HKR3
krueppel-related zinc finger protein 3
telomeric zinc finger-associated protein
zinc finger and BTB domain-containing protein 48
zinc finger protein 855

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_001278647.2NP_001265576.1  telomere zinc finger-associated protein

    See identical proteins and their annotated locations for NP_001265576.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AA765826, AK290156, AL591866, HY047768
    Consensus CDS
    CCDS84.1
    UniProtKB/Swiss-Prot
    P10074
    UniProtKB/TrEMBL
    A8K291
    Conserved Domains (6) summary
    COG5048
    Location:464612
    COG5048; FOG: Zn-finger [General function prediction only]
    COG5189
    Location:374459
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    sd00017
    Location:467487
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00019
    Location:409425
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00651
    Location:16119
    BTB; BTB/POZ domain
    pfam13465
    Location:305328
    zf-H2C2_2; Zinc-finger double domain
  2. NM_001278648.2NP_001265577.1  telomere zinc finger-associated protein

    See identical proteins and their annotated locations for NP_001265577.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AA765826, AK312786, AL591866, HY047768
    Consensus CDS
    CCDS84.1
    UniProtKB/Swiss-Prot
    P10074
    UniProtKB/TrEMBL
    B2R702
    Conserved Domains (6) summary
    COG5048
    Location:464612
    COG5048; FOG: Zn-finger [General function prediction only]
    COG5189
    Location:374459
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    sd00017
    Location:467487
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00019
    Location:409425
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00651
    Location:16119
    BTB; BTB/POZ domain
    pfam13465
    Location:305328
    zf-H2C2_2; Zinc-finger double domain
  3. NM_005341.4NP_005332.1  telomere zinc finger-associated protein

    See identical proteins and their annotated locations for NP_005332.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AA765826, BC013573, BI913659, HY047768, L16896
    Consensus CDS
    CCDS84.1
    UniProtKB/Swiss-Prot
    P10074
    Related
    ENSP00000366902.4, ENST00000377674.9
    Conserved Domains (6) summary
    COG5048
    Location:464612
    COG5048; FOG: Zn-finger [General function prediction only]
    COG5189
    Location:374459
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    sd00017
    Location:467487
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00019
    Location:409425
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00651
    Location:16119
    BTB; BTB/POZ domain
    pfam13465
    Location:305328
    zf-H2C2_2; Zinc-finger double domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    6579994..6589280
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017001113.2XP_016856602.1  telomere zinc finger-associated protein isoform X3

    Conserved Domains (4) summary
    COG5048
    Location:101162
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:105125
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:216238
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:117142
    zf-H2C2_2; Zinc-finger double domain
  2. XM_017001114.2XP_016856603.1  telomere zinc finger-associated protein isoform X3

    Conserved Domains (4) summary
    COG5048
    Location:101162
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:105125
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:216238
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:117142
    zf-H2C2_2; Zinc-finger double domain
  3. XM_017001112.2XP_016856601.1  telomere zinc finger-associated protein isoform X3

    Conserved Domains (4) summary
    COG5048
    Location:101162
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:105125
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:216238
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:117142
    zf-H2C2_2; Zinc-finger double domain
  4. XM_017001111.2XP_016856600.1  telomere zinc finger-associated protein isoform X2

  5. XM_017001110.2XP_016856599.1  telomere zinc finger-associated protein isoform X1

RNA

  1. XR_001737135.2 RNA Sequence

  2. XR_001737136.1 RNA Sequence

  3. XR_946621.3 RNA Sequence

  4. XR_001737137.2 RNA Sequence

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