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    ZNF557 zinc finger protein 557 [ Homo sapiens (human) ]

    Gene ID: 79230, updated on 11-Apr-2024

    Summary

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    Official Symbol
    ZNF557provided by HGNC
    Official Full Name
    zinc finger protein 557provided by HGNC
    Primary source
    HGNC:HGNC:28632
    See related
    Ensembl:ENSG00000130544 AllianceGenome:HGNC:28632
    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 repressor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in testis (RPKM 1.5), thyroid (RPKM 1.3) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    Location:
    19p13.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (7069703..7087968)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (7060474..7078726)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (7069714..7087979)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene methyl-CpG binding domain protein 3 like 2 Neighboring gene methyl-CpG binding domain protein 3 like 3 Neighboring gene MPRA-validated peak3311 silencer Neighboring gene MPRA-validated peak3312 silencer Neighboring gene MPRA-validated peak3313 silencer Neighboring gene uncharacterized LOC124904625 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9971 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:7102509-7103010 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:7103011-7103510 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr19:7109747-7110266 Neighboring gene MPRA-validated peak3314 silencer Neighboring gene insulin receptor Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13870 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13871 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13872 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:7197359-7198195 Neighboring gene uncharacterized LOC124904626

    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. The lacrimal gland transcriptome is an unusually rich source of rare and poorly characterized gene transcripts. Ozyildirim AM, et al. Invest Ophthalmol Vis Sci, 2005 May. PMID 15851553
    2. A Y2H-seq approach defines the human protein methyltransferase interactome. Weimann M, et al. Nat Methods, 2013 Apr. PMID 23455924
    3. Phospho-tyrosine dependent protein-protein interaction network. Grossmann A, et al. Mol Syst Biol, 2015 Mar 26. PMID 25814554, Free PMC Article
    4. ARHGAP24 represses β-catenin transactivation-induced invasiveness in hepatocellular carcinoma mainly by acting as a GTPase-independent scaffold. Yang W, et al. Theranostics, 2022. PMID 36168627, Free PMC Article
    5. Functional proteomics mapping of a human signaling pathway. Colland F, et al. Genome Res, 2004 Jul. PMID 15231748, Free PMC Article

    See all (13) 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

    • MGC4054, FLJ96454

    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 transcription 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 557
    Names
    CTB-25J19.9

    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_001044387.2 → NP_001037852.1  zinc finger protein 557 isoform a

      See identical proteins and their annotated locations for NP_001037852.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein (isoform a).
      Source sequence(s)
      AC010606, BC003020, CD723611
      Consensus CDS
      CCDS42485.1
      UniProtKB/Swiss-Prot
      Q8N988
      Conserved Domains (6) summary
      smart00349
      Location:43 → 100
      KRAB; krueppel associated box
      COG5048
      Location:137 → 422
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:182 → 202
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:320 → 342
      zf-C2H2; Zinc finger, C2H2 type
      pfam01352
      Location:43 → 82
      KRAB; KRAB box
      pfam13465
      Location:334 → 359
      zf-H2C2_2; Zinc-finger double domain

    2. NM_001044388.2 → NP_001037853.1  zinc finger protein 557 isoform b

      See identical proteins and their annotated locations for NP_001037853.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the 5' coding region compared to variant 1. The resulting protein (isoform b) is shorter but has the same N- and C- termini compared to isoform a.
      Source sequence(s)
      AC010606, BC003020, CD723611
      Consensus CDS
      CCDS45945.1
      UniProtKB/Swiss-Prot
      Q6PEJ3, Q8N988, Q9BTZ1
      Related
      ENSP00000404065.2, ENST00000414706.2
      Conserved Domains (6) summary
      smart00349
      Location:36 → 93
      KRAB; krueppel associated box
      COG5048
      Location:130 → 415
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:175 → 195
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:313 → 335
      zf-C2H2; Zinc finger, C2H2 type
      pfam01352
      Location:36 → 75
      KRAB; KRAB box
      pfam13465
      Location:327 → 352
      zf-H2C2_2; Zinc-finger double domain

    3. NM_024341.3 → NP_077317.2  zinc finger protein 557 isoform a

      See identical proteins and their annotated locations for NP_077317.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer protein (isoform a). Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC010606, BC003020, CD723611
      Consensus CDS
      CCDS42485.1
      UniProtKB/Swiss-Prot
      Q8N988
      Related
      ENSP00000252840.5, ENST00000252840.11
      Conserved Domains (6) summary
      smart00349
      Location:43 → 100
      KRAB; krueppel associated box
      COG5048
      Location:137 → 422
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:182 → 202
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:320 → 342
      zf-C2H2; Zinc finger, C2H2 type
      pfam01352
      Location:43 → 82
      KRAB; KRAB box
      pfam13465
      Location:334 → 359
      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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      7069703..7087968
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047439432.1 → XP_047295388.1  zinc finger protein 557 isoform X1

      UniProtKB/Swiss-Prot
      Q6PEJ3, Q8N988, Q9BTZ1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      7060474..7078726
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054322143.1 → XP_054178118.1  zinc finger protein 557 isoform X1

      UniProtKB/Swiss-Prot
      Q6PEJ3, Q8N988, Q9BTZ1
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N988.2 GenPept UniProtKB/Swiss-Prot:Q8N988

    Gene LinkOut

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

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