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    ZNF18 zinc finger protein 18 [ Homo sapiens (human) ]

    Gene ID: 7566, updated on 27-Nov-2024

    Summary

    Official Symbol
    ZNF18provided by HGNC
    Official Full Name
    zinc finger protein 18provided by HGNC
    Primary source
    HGNC:HGNC:12969
    See related
    Ensembl:ENSG00000154957 MIM:194524; AllianceGenome:HGNC:12969
    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
    Also known as
    HDSG1; KOX11; ZNF535; Zfp535; ZKSCAN6; ZSCAN38
    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 located in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 3.9), bone marrow (RPKM 2.2) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ZNF18 in Genome Data Viewer
    Location:
    17p12
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (11977439..12021527, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (11885437..11929509, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (11880756..11900792, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene dynein axonemal heavy chain 9 Neighboring gene uncharacterized LOC101928350 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:11812057-11812249 Neighboring gene NANOG hESC enhancer GRCh37_chr17:11831780-11832352 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:11851561-11852062 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:11852063-11852562 Neighboring gene uncharacterized LOC124903928 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr17:11879623-11880182 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:11894608-11895262 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:11900873-11901856 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:11923994-11924494 Neighboring gene ribosomal protein L21 pseudogene 122 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:11949815-11950698 Neighboring gene mitogen-activated protein kinase kinase 4 Neighboring gene RNA, U11 small nuclear 2, pseudogene Neighboring gene uncharacterized LOC124904155

    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

    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
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    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
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    zinc finger protein 18
    Names
    heart development-specific gene 1 protein
    zinc finger protein 18 (KOX 11)
    zinc finger protein 535
    zinc finger protein with KRAB and SCAN domains 6

    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_001303281.2NP_001290210.1  zinc finger protein 18 isoform 1

      See identical proteins and their annotated locations for NP_001290210.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode isoform 1.
      Source sequence(s)
      AA243557, AK127908, BC036096, DB056532
      Consensus CDS
      CCDS32568.1
      UniProtKB/Swiss-Prot
      P17022, Q5QHQ3, Q8IYC4, Q8NAH6
      Related
      ENSP00000463471.1, ENST00000580306.7
      Conserved Domains (5) summary
      COG5048
      Location:436549
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:466486
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:222249
      KRAB; KRAB box
      pfam13465
      Location:506530
      zf-H2C2_2; Zinc-finger double domain
      cl02605
      Location:37148
      SCAN; SCAN oligomerization domain
    2. NM_001303282.2NP_001290211.1  zinc finger protein 18 isoform 2

      See identical proteins and their annotated locations for NP_001290211.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and uses an alternate in-frame splice site, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AA243557, AC005410, AY491053, DB056532
      Consensus CDS
      CCDS76957.1
      UniProtKB/Swiss-Prot
      P17022
      Related
      ENSP00000391376.3, ENST00000454073.7
      Conserved Domains (7) summary
      smart00431
      Location:37148
      SCAN; leucine rich region
      cd07765
      Location:221249
      KRAB_A-box; KRAB (Kruppel-associated box) domain -A box
      COG5048
      Location:489547
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:465485
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:435457
      zf-C2H2; Zinc finger, C2H2 type
      pfam02023
      Location:37125
      SCAN; SCAN domain
      pfam13465
      Location:505529
      zf-H2C2_2; Zinc-finger double domain
    3. NM_144680.4NP_653281.2  zinc finger protein 18 isoform 1

      See identical proteins and their annotated locations for NP_653281.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Variants 1 and 2 encode isoform 1.
      Source sequence(s)
      AA243557, AC005410, AK092656, BC036096
      Consensus CDS
      CCDS32568.1
      UniProtKB/Swiss-Prot
      P17022, Q5QHQ3, Q8IYC4, Q8NAH6
      Related
      ENSP00000315664.3, ENST00000322748.7
      Conserved Domains (5) summary
      COG5048
      Location:436549
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:466486
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:222249
      KRAB; KRAB box
      pfam13465
      Location:506530
      zf-H2C2_2; Zinc-finger double domain
      cl02605
      Location:37148
      SCAN; SCAN oligomerization 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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      11977439..12021527 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024450911.2XP_024306679.1  zinc finger protein 18 isoform X1

      UniProtKB/Swiss-Prot
      P17022, Q5QHQ3, Q8IYC4, Q8NAH6
      Conserved Domains (5) summary
      COG5048
      Location:436549
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:466486
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:222249
      KRAB; KRAB box
      pfam13465
      Location:506530
      zf-H2C2_2; Zinc-finger double domain
      cl02605
      Location:37148
      SCAN; SCAN oligomerization domain
    2. XM_024450909.2XP_024306677.1  zinc finger protein 18 isoform X1

      UniProtKB/Swiss-Prot
      P17022, Q5QHQ3, Q8IYC4, Q8NAH6
      Conserved Domains (5) summary
      COG5048
      Location:436549
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:466486
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:222249
      KRAB; KRAB box
      pfam13465
      Location:506530
      zf-H2C2_2; Zinc-finger double domain
      cl02605
      Location:37148
      SCAN; SCAN oligomerization domain
    3. XM_047436649.1XP_047292605.1  zinc finger protein 18 isoform X2

    4. XM_047436648.1XP_047292604.1  zinc finger protein 18 isoform X2

    5. XM_047436647.1XP_047292603.1  zinc finger protein 18 isoform X1

      UniProtKB/Swiss-Prot
      P17022, Q5QHQ3, Q8IYC4, Q8NAH6
    6. XM_017025011.3XP_016880500.1  zinc finger protein 18 isoform X2

      UniProtKB/Swiss-Prot
      P17022
      Conserved Domains (7) summary
      smart00431
      Location:37148
      SCAN; leucine rich region
      cd07765
      Location:221249
      KRAB_A-box; KRAB (Kruppel-associated box) domain -A box
      COG5048
      Location:489547
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:465485
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:435457
      zf-C2H2; Zinc finger, C2H2 type
      pfam02023
      Location:37125
      SCAN; SCAN domain
      pfam13465
      Location:505529
      zf-H2C2_2; Zinc-finger double domain
    7. XM_017025010.3XP_016880499.1  zinc finger protein 18 isoform X2

      UniProtKB/Swiss-Prot
      P17022
      Conserved Domains (7) summary
      smart00431
      Location:37148
      SCAN; leucine rich region
      cd07765
      Location:221249
      KRAB_A-box; KRAB (Kruppel-associated box) domain -A box
      COG5048
      Location:489547
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:465485
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:435457
      zf-C2H2; Zinc finger, C2H2 type
      pfam02023
      Location:37125
      SCAN; SCAN domain
      pfam13465
      Location:505529
      zf-H2C2_2; Zinc-finger double domain
    8. XM_011524002.4XP_011522304.1  zinc finger protein 18 isoform X1

      See identical proteins and their annotated locations for XP_011522304.1

      UniProtKB/Swiss-Prot
      P17022, Q5QHQ3, Q8IYC4, Q8NAH6
      Conserved Domains (5) summary
      COG5048
      Location:436549
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:466486
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:222249
      KRAB; KRAB box
      pfam13465
      Location:506530
      zf-H2C2_2; Zinc-finger double domain
      cl02605
      Location:37148
      SCAN; SCAN oligomerization domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      11885437..11929509 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054317048.1XP_054173023.1  zinc finger protein 18 isoform X1

      UniProtKB/Swiss-Prot
      P17022, Q5QHQ3, Q8IYC4, Q8NAH6
    2. XM_054317046.1XP_054173021.1  zinc finger protein 18 isoform X1

      UniProtKB/Swiss-Prot
      P17022, Q5QHQ3, Q8IYC4, Q8NAH6
    3. XM_054317051.1XP_054173026.1  zinc finger protein 18 isoform X2

    4. XM_054317050.1XP_054173025.1  zinc finger protein 18 isoform X2

    5. XM_054317047.1XP_054173022.1  zinc finger protein 18 isoform X1

      UniProtKB/Swiss-Prot
      P17022, Q5QHQ3, Q8IYC4, Q8NAH6
    6. XM_054317053.1XP_054173028.1  zinc finger protein 18 isoform X2

    7. XM_054317052.1XP_054173027.1  zinc finger protein 18 isoform X2

    8. XM_054317049.1XP_054173024.1  zinc finger protein 18 isoform X1

      UniProtKB/Swiss-Prot
      P17022, Q5QHQ3, Q8IYC4, Q8NAH6