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ZNF253 zinc finger protein 253 [ Homo sapiens (human) ]

Gene ID: 56242, updated on 11-Jun-2021

Summary

Official Symbol
ZNF253provided by HGNC
Official Full Name
zinc finger protein 253provided by HGNC
Primary source
HGNC:HGNC:13497
See related
Ensembl:ENSG00000256771 MIM:606954
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
BMZF1; BMZF-1; ZNF411
Expression
Ubiquitous expression in thyroid (RPKM 6.0), ovary (RPKM 4.3) and 25 other tissues See more
Orthologs
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Genomic context

See ZNF253 in Genome Data Viewer
Location:
19p13.11
Exon count:
4
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (19865830..19894674)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (19976639..20005483)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene zinc finger protein 56, pseudogene Neighboring gene iron-sulfur cluster assembly 1 pseudogene 5 Neighboring gene BCL2 interacting protein 3 pseudogene 9 Neighboring gene BCL2 interacting protein 3 pseudogene 10 Neighboring gene zinc finger protein 93 Neighboring gene BCL2 interacting protein 3 pseudogene 12 Neighboring gene vomeronasal 1 receptor 77 pseudogene

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

General gene information

Markers

Potential readthrough

Included gene: ZNF56P

Homology

Clone Names

  • FLJ90391

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
zinc finger protein 253
Names
DNA-binding protein
bone marrow zinc finger 1
zinc finger protein 411

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_001331133.1NP_001318062.1  zinc finger protein 253 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    BC014148, BU567590, DA167341
    UniProtKB/Swiss-Prot
    O75346
  2. NM_001331134.1NP_001318063.1  zinc finger protein 253 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks two alternate exons compared to variant 1. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    BC014148, DA167341
    Consensus CDS
    CCDS86729.1
    UniProtKB/Swiss-Prot
    O75346
    Related
    ENSP00000347868.4, ENST00000355650.4
    Conserved Domains (2) summary
    COG5048
    Location:94421
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:98118
    ZF_C2H2; C2H2 Zn finger [structural motif]
  3. NM_021047.3NP_066385.2  zinc finger protein 253 isoform 1

    See identical proteins and their annotated locations for NP_066385.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC011477, BC014148
    Consensus CDS
    CCDS42532.1
    UniProtKB/Swiss-Prot
    O75346
    Related
    ENSP00000468720.1, ENST00000589717.2
    Conserved Domains (5) summary
    smart00349
    Location:462
    KRAB; krueppel associated box
    COG5048
    Location:170497
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:174194
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:643
    KRAB; KRAB box
    pfam13465
    Location:214239
    zf-H2C2_2; Zinc-finger double domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    19865830..19894674
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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