Format

Send to:

Choose Destination

ZNF521 zinc finger protein 521 [ Homo sapiens (human) ]

Gene ID: 25925, updated on 24-Nov-2020

Summary

Official Symbol
ZNF521provided by HGNC
Official Full Name
zinc finger protein 521provided by HGNC
Primary source
HGNC:HGNC:24605
See related
Ensembl:ENSG00000198795 MIM:610974
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
EHZF; Evi3
Expression
Ubiquitous expression in ovary (RPKM 5.8), spleen (RPKM 5.0) and 22 other tissues See more
Orthologs

Genomic context

See ZNF521 in Genome Data Viewer
Location:
18q11.2
Exon count:
12
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (25061924..25352194, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (22641888..22932214, complement)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene VISTA enhancer hs1180 Neighboring gene uncharacterized LOC107985141 Neighboring gene uncharacterized LOC107987256 Neighboring gene WW domain binding protein 2 pseudogene 1 Neighboring gene VISTA enhancer hs367 Neighboring gene VISTA enhancer hs1027 Neighboring gene VISTA enhancer hs1653 Neighboring gene uncharacterized LOC105372031 Neighboring gene VISTA enhancer hs369 Neighboring gene VISTA enhancer hs1544 Neighboring gene RNA, 7SL, cytoplasmic 97, 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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide association study in the genetic analysis of idiopathic thrombophilia project suggests sex-specific regulation of mitochondrial DNA levels.
GeneReviews: Not available
Genome-wide association study of selenium concentrations.
GeneReviews: Not available
Genome-wide mapping for clinically relevant predictors of lamotrigine- and phenytoin-induced hypersensitivity reactions.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC142182, MGC142208, DKFZp564D0764

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription activator activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein domain specific binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
neuron fate commitment IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
zinc finger protein 521
Names
LYST-interacting protein 3
early hematopoietic zinc finger 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_001308225.2NP_001295154.1  zinc finger protein 521 isoform 2

    See identical proteins and their annotated locations for NP_001295154.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon in the 5' coding region, resulting in the use of a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AC104961, AC105114, AC110603, BC032869, BC113622, CA415157, DA102816
    Consensus CDS
    CCDS77167.1
    UniProtKB/Swiss-Prot
    Q96K83
    UniProtKB/TrEMBL
    J3KTI4, Q8IYZ2
    Related
    ENSP00000463000.1, ENST00000584787.5
    Conserved Domains (2) summary
    COG5236
    Location:565744
    COG5236; Uncharacterized conserved protein, contains RING Zn-finger [General function prediction only]
    sd00017
    Location:416436
    ZF_C2H2; C2H2 Zn finger [structural motif]
  2. NM_015461.3NP_056276.1  zinc finger protein 521 isoform 1

    See identical proteins and their annotated locations for NP_056276.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AF141339, AK027354, BC113622, DA102816
    Consensus CDS
    CCDS32806.1
    UniProtKB/Swiss-Prot
    Q96K83
    Related
    ENSP00000354794.3, ENST00000361524.8
    Conserved Domains (2) summary
    COG5048
    Location:128216
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:120140
    ZF_C2H2; C2H2 Zn finger [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

    Range
    25061924..25352194 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011525909.3XP_011524211.1  zinc finger protein 521 isoform X1

    Conserved Domains (2) summary
    COG5048
    Location:128216
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:120140
    ZF_C2H2; C2H2 Zn finger [structural motif]
  2. XM_017025697.2XP_016881186.1  zinc finger protein 521 isoform X3

  3. XM_011525911.2XP_011524213.1  zinc finger protein 521 isoform X4

    See identical proteins and their annotated locations for XP_011524213.1

    UniProtKB/Swiss-Prot
    Q96K83
    UniProtKB/TrEMBL
    J3KTI4
    Conserved Domains (2) summary
    COG5236
    Location:565744
    COG5236; Uncharacterized conserved protein, contains RING Zn-finger [General function prediction only]
    sd00017
    Location:416436
    ZF_C2H2; C2H2 Zn finger [structural motif]
  4. XM_017025698.2XP_016881187.1  zinc finger protein 521 isoform X4

    UniProtKB/Swiss-Prot
    Q96K83
    UniProtKB/TrEMBL
    J3KTI4
    Conserved Domains (2) summary
    COG5236
    Location:565744
    COG5236; Uncharacterized conserved protein, contains RING Zn-finger [General function prediction only]
    sd00017
    Location:416436
    ZF_C2H2; C2H2 Zn finger [structural motif]
  5. XM_024451141.1XP_024306909.1  zinc finger protein 521 isoform X4

    Conserved Domains (2) summary
    COG5236
    Location:565744
    COG5236; Uncharacterized conserved protein, contains RING Zn-finger [General function prediction only]
    sd00017
    Location:416436
    ZF_C2H2; C2H2 Zn finger [structural motif]
  6. XM_024451142.1XP_024306910.1  zinc finger protein 521 isoform X4

    Conserved Domains (2) summary
    COG5236
    Location:565744
    COG5236; Uncharacterized conserved protein, contains RING Zn-finger [General function prediction only]
    sd00017
    Location:416436
    ZF_C2H2; C2H2 Zn finger [structural motif]
  7. XM_011525910.3XP_011524212.1  zinc finger protein 521 isoform X2

    Related
    ENSP00000382352.2, ENST00000399425.6
    Conserved Domains (2) summary
    COG5048
    Location:128216
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:120140
    ZF_C2H2; C2H2 Zn finger [structural motif]
Support Center