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    ZNF619 zinc finger protein 619 [ Homo sapiens (human) ]

    Gene ID: 285267, updated on 11-Apr-2024

    Summary

    Official Symbol
    ZNF619provided by HGNC
    Official Full Name
    zinc finger protein 619provided by HGNC
    Primary source
    HGNC:HGNC:26910
    See related
    Ensembl:ENSG00000177873 AllianceGenome:HGNC:26910
    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 thyroid (RPKM 1.6), spleen (RPKM 1.4) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    Location:
    3p22.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (40477122..40491053)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (40492190..40506125)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (40518613..40532544)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ENTPD3 antisense RNA 1 Neighboring gene ectonucleoside triphosphate diphosphohydrolase 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:40459610-40459810 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19716 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19717 Neighboring gene Sharpr-MPRA regulatory region 7904 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14232 Neighboring gene Sharpr-MPRA regulatory region 106 Neighboring gene ribosomal protein L14 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19718 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:40534545-40535044 Neighboring gene RNA, U5B small nuclear 2, pseudogene Neighboring gene zinc finger protein 620

    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

    Clone Names

    • FLJ90764

    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
     

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001145082.4NP_001138554.1  zinc finger protein 619 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC121754
      Consensus CDS
      CCDS46802.1
      UniProtKB/Swiss-Prot
      Q8N2I2
      Related
      ENSP00000411132.2, ENST00000447116.6
      Conserved Domains (6) summary
      smart00349
      Location:20120
      KRAB; krueppel associated box
      COG5048
      Location:256414
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:330350
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:328350
      zf-C2H2; Zinc finger, C2H2 type
      pfam01352
      Location:2059
      KRAB; KRAB box
      pfam13465
      Location:343367
      zf-H2C2_2; Zinc-finger double domain
    2. NM_001145083.3NP_001138555.1  zinc finger protein 619 isoform 5

      See identical proteins and their annotated locations for NP_001138555.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks two internal coding exons, resulting in an upstream AUG start codon, as compared to variant 1. The resulting isoform (5) has a shorter and different N-terminus, as compared to isoform 1.
      Source sequence(s)
      AC121754
      Consensus CDS
      CCDS46801.1
      UniProtKB/Swiss-Prot
      Q8N2I2
      Related
      ENSP00000397232.1, ENST00000456778.5
      Conserved Domains (4) summary
      COG5048
      Location:172330
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:246266
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:244266
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:259283
      zf-H2C2_2; Zinc-finger double domain
    3. NM_001145093.4NP_001138565.1  zinc finger protein 619 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1.
      Source sequence(s)
      AC121754
      Consensus CDS
      CCDS46803.1
      UniProtKB/Swiss-Prot
      Q8N2I2
      Related
      ENSP00000388710.2, ENST00000432264.4
      Conserved Domains (6) summary
      smart00349
      Location:2080
      KRAB; krueppel associated box
      COG5048
      Location:216374
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:290310
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:288310
      zf-C2H2; Zinc finger, C2H2 type
      pfam01352
      Location:2059
      KRAB; KRAB box
      pfam13465
      Location:303327
      zf-H2C2_2; Zinc-finger double domain
    4. NM_001145094.3NP_001138566.1  zinc finger protein 619 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon and contains another alternate exon compared to variant 1. The resulting isoform (3) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC121754
      UniProtKB/TrEMBL
      Q17RW3
      Related
      ENSP00000398024.3, ENST00000429348.6
      Conserved Domains (3) summary
      COG5048
      Location:207365
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:281301
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:434457
      zf-H2C2_2; Zinc-finger double domain
    5. NM_001363277.2NP_001350206.1  zinc finger protein 619 isoform 6

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) uses an alternate splice junction compared to variant 1. The resulting isoform (6) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AC121754
      UniProtKB/TrEMBL
      B7Z9B3
      Conserved Domains (4) summary
      COG5048
      Location:158316
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:232252
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:385408
      zf-H2C2_2; Zinc-finger double domain
      cl02581
      Location:422
      KRAB_A-box; KRAB (Kruppel-associated box) domain -A box
    6. NM_173656.5NP_775927.1  zinc finger protein 619 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC121754, DC351282
      UniProtKB/Swiss-Prot
      B4E271, C9JRN5, D4PHA2, E9PCD9, Q8N2I2
      Related
      ENSP00000322529.5, ENST00000314686.9

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      40477122..40491053
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011533607.2XP_011531909.1  zinc finger protein 619 isoform X1

      Conserved Domains (6) summary
      smart00349
      Location:20119
      KRAB; krueppel associated box
      COG5048
      Location:255413
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:329349
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:327349
      zf-C2H2; Zinc finger, C2H2 type
      pfam01352
      Location:2059
      KRAB; KRAB box
      pfam13465
      Location:342366
      zf-H2C2_2; Zinc-finger double domain
    2. XM_006713112.3XP_006713175.1  zinc finger protein 619 isoform X2

      Conserved Domains (6) summary
      smart00349
      Location:2079
      KRAB; krueppel associated box
      COG5048
      Location:215373
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:289309
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:287309
      zf-C2H2; Zinc finger, C2H2 type
      pfam01352
      Location:2059
      KRAB; KRAB box
      pfam13465
      Location:302326
      zf-H2C2_2; Zinc-finger double domain
    3. XM_006713113.4XP_006713176.1  zinc finger protein 619 isoform X5

      Conserved Domains (4) summary
      COG5048
      Location:171329
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:245265
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:243265
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:258282
      zf-H2C2_2; Zinc-finger double domain
    4. XM_047448010.1XP_047303966.1  zinc finger protein 619 isoform X3

    5. XM_017006225.2XP_016861714.1  zinc finger protein 619 isoform X4

      UniProtKB/TrEMBL
      Q17RW3
      Conserved Domains (3) summary
      COG5048
      Location:207365
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:281301
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:434457
      zf-H2C2_2; Zinc-finger double domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      40492190..40506125
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054346287.1XP_054202262.1  zinc finger protein 619 isoform X1

    2. XM_054346288.1XP_054202263.1  zinc finger protein 619 isoform X2

    3. XM_054346291.1XP_054202266.1  zinc finger protein 619 isoform X5

    4. XM_054346289.1XP_054202264.1  zinc finger protein 619 isoform X3

    5. XM_054346290.1XP_054202265.1  zinc finger protein 619 isoform X4

      UniProtKB/TrEMBL
      Q17RW3

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001363278.1: Suppressed sequence

      Description
      NM_001363278.1: This RefSeq was removed because it was the same as NM_173656.3.