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

Gene ID: 84874, updated on 2-Nov-2024

Summary

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Official Symbol
ZNF514provided by HGNC
Official Full Name
zinc finger protein 514provided by HGNC
Primary source
HGNC:HGNC:25894
See related
Ensembl:ENSG00000144026 AllianceGenome:HGNC:25894
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
Summary
Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in ovary (RPKM 4.8), skin (RPKM 3.8) and 25 other tissues See more
Orthologs
all
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Genomic context

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See ZNF514 in Genome Data Viewer
Location:
2q11.1
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (95123105..95159848, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (95629488..95666330, complement)
RS_2024_09 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 LOC124907857 Neighboring gene uncharacterized LOC105373488 Neighboring gene NANOG hESC enhancer GRCh37_chr2:95753198-95753763 Neighboring gene mitochondrial ribosomal protein S5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11739 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11740 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:95830542-95831178 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:95831179-95831813 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:95843643-95844143 Neighboring gene zinc finger protein 2 Neighboring gene zinc finger protein 2-like

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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Related articles in PubMed

  1. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Hillier LW, et al. Nature, 2005 Apr 7. PMID 15815621
  2. The protein interaction landscape of the human CMGC kinase group. Varjosalo M, et al. Cell Rep, 2013 Apr 25. PMID 23602568
  3. Human-chromatin-related protein interactions identify a demethylase complex required for chromosome segregation. Marcon E, et al. Cell Rep, 2014 Jul 10. PMID 24981860
  4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

See all (9) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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
  
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
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
  
Component Evidence Code Pubs
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
zinc finger protein 514

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_001318005.1 → NP_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:74 → 134
    KRAB; krueppel associated box
    COG5048
    Location:303 → 463
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:307 → 327
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:74 → 111
    KRAB; KRAB box
    pfam13465
    Location:375 → 400
    zf-H2C2_2; Zinc-finger double domain

  2. NM_032788.3 → NP_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
    Q5JPJ3, Q96K75
    Related
    ENSP00000295208.2, ENST00000295208.7
    Conserved Domains (5) summary
    smart00349
    Location:1 → 61
    KRAB; krueppel associated box
    COG5048
    Location:230 → 390
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:234 → 254
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:1 → 38
    KRAB; KRAB box
    pfam13465
    Location:302 → 327
    zf-H2C2_2; Zinc-finger double domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    95123105..95159848 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047446081.1 → XP_047302037.1  zinc finger protein 514 isoform X1

  2. XM_047446084.1 → XP_047302040.1  zinc finger protein 514 isoform X1

RNA

  1. XR_001739001.2 RNA Sequence

  2. XR_001739002.2 RNA Sequence

  3. XR_007083290.1 RNA Sequence

  4. XR_007083281.1 RNA Sequence

  5. XR_007083314.1 RNA Sequence

  6. XR_923048.3 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    95629488..95666330 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054344241.1 → XP_054200216.1  zinc finger protein 514 isoform X1

  2. XM_054344240.1 → XP_054200215.1  zinc finger protein 514 isoform X2

  3. XM_054344242.1 → XP_054200217.1  zinc finger protein 514 isoform X1

RNA

  1. XR_008486564.1 RNA Sequence

  2. XR_008486563.1 RNA Sequence

  3. XR_008486567.1 RNA Sequence

  4. XR_008486568.1 RNA Sequence

  5. XR_008486566.1 RNA Sequence

  6. XR_008486565.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96K75.1 GenPept UniProtKB/Swiss-Prot:Q96K75

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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