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ZNF514 zinc finger protein 514 [ Homo sapiens (human) ]

Gene ID: 84874, updated on 23-Nov-2021

Summary

Official Symbol
ZNF514provided by HGNC
Official Full Name
zinc finger protein 514provided by HGNC
Primary source
HGNC:HGNC:25894
See related
Ensembl:ENSG00000144026
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
Expression
Ubiquitous expression in ovary (RPKM 4.8), skin (RPKM 3.8) and 25 other tissues See more
Orthologs
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Genomic context

See ZNF514 in Genome Data Viewer
Location:
2q11.1
Exon count:
9
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (95122987..95165187, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (95810745..95825593, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373488 Neighboring gene mitochondrial ribosomal protein S5 Neighboring gene zinc finger protein 2 Neighboring gene zinc finger protein 2-like

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC126229, MGC126230

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
 
Process Evidence Code Pubs
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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_001318005.1NP_001304934.1  zinc finger protein 514 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC092835, AI694922, AK027363, BC068498, BC110524, DA757737, DA794017
    UniProtKB/Swiss-Prot
    Q96K75
    Conserved Domains (5) summary
    smart00349
    Location:74134
    KRAB; krueppel associated box
    COG5048
    Location:303463
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:307327
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:74111
    KRAB; KRAB box
    pfam13465
    Location:375400
    zf-H2C2_2; Zinc-finger double domain
  2. NM_032788.3NP_116177.1  zinc finger protein 514 isoform 2

    See identical proteins and their annotated locations for NP_116177.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and uses an alternate splice site in the 5' coding region that results in use of a downstream start codon compared to variant 1. It encodes isoform 2, which has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AC092835, AI694922, AK027363, BC068498, DA757737
    Consensus CDS
    CCDS2011.1
    UniProtKB/Swiss-Prot
    Q96K75
    Related
    ENSP00000295208.2, ENST00000295208.7
    Conserved Domains (5) summary
    smart00349
    Location:161
    KRAB; krueppel associated box
    COG5048
    Location:230390
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:234254
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:138
    KRAB; KRAB box
    pfam13465
    Location:302327
    zf-H2C2_2; Zinc-finger double domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    95122987..95165187 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006712806.2XP_006712869.1  zinc finger protein 514 isoform X1

    See identical proteins and their annotated locations for XP_006712869.1

    UniProtKB/Swiss-Prot
    Q96K75
    Conserved Domains (5) summary
    smart00349
    Location:161
    KRAB; krueppel associated box
    COG5048
    Location:230390
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:234254
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:138
    KRAB; KRAB box
    pfam13465
    Location:302327
    zf-H2C2_2; Zinc-finger double domain

RNA

  1. XR_001739002.1 RNA Sequence

  2. XR_001739001.1 RNA Sequence

  3. XR_923048.2 RNA Sequence

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