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

    Gene ID: 84874, updated on 5-Mar-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, Apr 2022]
    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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    Location:
    2q11.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (95123105..95159848, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (95629488..95666330, complement)
    105.20220307 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
    • 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_2023_10

    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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