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    ZNF181 zinc finger protein 181 [ Homo sapiens (human) ]

    Gene ID: 339318, updated on 6-Oct-2024

    Summary

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    Official Symbol
    ZNF181provided by HGNC
    Official Full Name
    zinc finger protein 181provided by HGNC
    Primary source
    HGNC:HGNC:12971
    See related
    Ensembl:ENSG00000197841 MIM:606741; AllianceGenome:HGNC:12971
    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
    HHZ181
    Summary
    Zinc finger proteins have been shown to interact with nucleic acids and to have diverse functions. The zinc finger domain is a conserved amino acid sequence motif containing 2 specifically positioned cysteines and 2 histidines that are involved in coordinating zinc. Kruppel-related proteins form 1 family of zinc finger proteins. See MIM 604749 for additional information on zinc finger proteins.[supplied by OMIM, Jul 2003]
    Expression
    Ubiquitous expression in ovary (RPKM 3.5), thyroid (RPKM 2.6) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See ZNF181 in Genome Data Viewer
    Location:
    19q13.11
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (34734243..34745378)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (37277885..37289960)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (35225148..35236283)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene secretoglobin family 2B member 1, pseudogene Neighboring gene secretoglobin family 1B member 1, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr19:35222265-35222475 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14450 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:35224273-35224790 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10507 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10508 Neighboring gene uncharacterized LOC124904698 Neighboring gene zinc finger protein 599 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10509 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14452 Neighboring gene uncharacterized LOC124904696

    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. Identification of a locus of zinc finger genes in human chromosome 19q13.1-q13.3 region by fluorescence in situ hybridization. Wang R, et al. Somat Cell Mol Genet, 1996 May. PMID 8914611
    2. A negative genetic interaction map in isogenic cancer cell lines reveals cancer cell vulnerabilities. Vizeacoumar FJ, et al. Mol Syst Biol, 2013 Oct 8. PMID 24104479, Free PMC Article
    3. A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome. Blandin G, et al. Skelet Muscle, 2013 Feb 15. PMID 23414517, Free PMC Article
    4. A census of human transcription factors: function, expression and evolution. Vaquerizas JM, et al. Nat Rev Genet, 2009 Apr. PMID 19274049
    5. Cullin 3 Exon 9 Deletion in Familial Hyperkalemic Hypertension Impairs Cullin3-Ring-E3 Ligase (CRL3) Dynamic Regulation and Cycling. Kouranti I, et al. Int J Mol Sci, 2022 May 5. PMID 35563538, Free PMC Article

    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

    • MGC44316

    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 181

    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_001029997.4 → NP_001025168.2  zinc finger protein 181 isoform 1

      See identical proteins and their annotated locations for NP_001025168.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC020910, AI800428, AK297316, BC104759, DC299701, DC304794
      Consensus CDS
      CCDS32990.2
      UniProtKB/Swiss-Prot
      B7ZKX3, Q2M3W8, Q49A75
      Related
      ENSP00000420727.1, ENST00000492450.3
      Conserved Domains (3) summary
      smart00349
      Location:4 → 65
      KRAB; krueppel associated box
      COG5048
      Location:211 → 539
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:463 → 483
      ZF_C2H2; C2H2 Zn finger [structural motif]

    2. NM_001145665.2 → NP_001139137.1  zinc finger protein 181 isoform 2

      See identical proteins and their annotated locations for NP_001139137.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site, compared to variant 1, and encodes a protein (isoform 2) that is one amino acid shorter than isoform 1.
      Source sequence(s)
      AC020910, AI800428, AK297316, BC143442, DC299701, DC304794
      Consensus CDS
      CCDS46043.1
      UniProtKB/Swiss-Prot
      Q2M3W8
      UniProtKB/TrEMBL
      B4DM69
      Related
      ENSP00000419435.1, ENST00000459757.6
      Conserved Domains (6) summary
      smart00349
      Location:4 → 64
      KRAB; krueppel associated box
      COG5048
      Location:210 → 538
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:462 → 482
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:516 → 538
      zf-C2H2; Zinc finger, C2H2 type
      pfam01352
      Location:4 → 43
      KRAB; KRAB box
      pfam13465
      Location:502 → 526
      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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      34734243..34745378
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006723183.4 → XP_006723246.1  zinc finger protein 181 isoform X1

      See identical proteins and their annotated locations for XP_006723246.1

      UniProtKB/Swiss-Prot
      B7ZKX3, Q2M3W8, Q49A75
      Conserved Domains (3) summary
      smart00349
      Location:4 → 65
      KRAB; krueppel associated box
      COG5048
      Location:211 → 539
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:463 → 483
      ZF_C2H2; C2H2 Zn finger [structural motif]

    2. XM_047438747.1 → XP_047294703.1  zinc finger protein 181 isoform X3

    3. XM_017026739.3 → XP_016882228.1  zinc finger protein 181 isoform X2

      UniProtKB/Swiss-Prot
      Q2M3W8
      Conserved Domains (6) summary
      smart00349
      Location:4 → 64
      KRAB; krueppel associated box
      COG5048
      Location:210 → 538
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:462 → 482
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:516 → 538
      zf-C2H2; Zinc finger, C2H2 type
      pfam01352
      Location:4 → 43
      KRAB; KRAB box
      pfam13465
      Location:502 → 526
      zf-H2C2_2; Zinc-finger double domain

    4. XM_047438748.1 → XP_047294704.1  zinc finger protein 181 isoform X4

    5. XM_005258849.3 → XP_005258906.1  zinc finger protein 181 isoform X1

      See identical proteins and their annotated locations for XP_005258906.1

      UniProtKB/Swiss-Prot
      B7ZKX3, Q2M3W8, Q49A75
      Related
      ENSP00000376065.3, ENST00000392232.7
      Conserved Domains (3) summary
      smart00349
      Location:4 → 65
      KRAB; krueppel associated box
      COG5048
      Location:211 → 539
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:463 → 483
      ZF_C2H2; C2H2 Zn finger [structural motif]

    6. XM_005258851.4 → XP_005258908.1  zinc finger protein 181 isoform X3

      See identical proteins and their annotated locations for XP_005258908.1

      Conserved Domains (6) summary
      smart00349
      Location:4 → 65
      KRAB; krueppel associated box
      COG5048
      Location:207 → 535
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:459 → 479
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:513 → 535
      zf-C2H2; Zinc finger, C2H2 type
      pfam01352
      Location:4 → 43
      KRAB; KRAB box
      pfam13465
      Location:499 → 523
      zf-H2C2_2; Zinc-finger double domain

    7. XM_005258850.3 → XP_005258907.1  zinc finger protein 181 isoform X2

      See identical proteins and their annotated locations for XP_005258907.1

      UniProtKB/Swiss-Prot
      Q2M3W8
      Conserved Domains (6) summary
      smart00349
      Location:4 → 64
      KRAB; krueppel associated box
      COG5048
      Location:210 → 538
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:462 → 482
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:516 → 538
      zf-C2H2; Zinc finger, C2H2 type
      pfam01352
      Location:4 → 43
      KRAB; KRAB box
      pfam13465
      Location:502 → 526
      zf-H2C2_2; Zinc-finger double domain

    8. XM_006723184.4 → XP_006723247.1  zinc finger protein 181 isoform X4

      Conserved Domains (6) summary
      smart00349
      Location:4 → 64
      KRAB; krueppel associated box
      COG5048
      Location:206 → 534
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:458 → 478
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:512 → 534
      zf-C2H2; Zinc finger, C2H2 type
      pfam01352
      Location:4 → 43
      KRAB; KRAB box
      pfam13465
      Location:498 → 522
      zf-H2C2_2; Zinc-finger double domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      37277885..37289960
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054320816.1 → XP_054176791.1  zinc finger protein 181 isoform X1

    2. XM_054320821.1 → XP_054176796.1  zinc finger protein 181 isoform X3

    3. XM_054320818.1 → XP_054176793.1  zinc finger protein 181 isoform X2

    4. XM_054320824.1 → XP_054176799.1  zinc finger protein 181 isoform X4

    5. XM_054320815.1 → XP_054176790.1  zinc finger protein 181 isoform X1

    6. XM_054320820.1 → XP_054176795.1  zinc finger protein 181 isoform X3

    7. XM_054320817.1 → XP_054176792.1  zinc finger protein 181 isoform X2

    8. XM_054320823.1 → XP_054176798.1  zinc finger protein 181 isoform X4

    9. XM_054320819.1 → XP_054176794.1  zinc finger protein 181 isoform X3

    10. XM_054320822.1 → XP_054176797.1  zinc finger protein 181 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q2M3W8.1 GenPept UniProtKB/Swiss-Prot:Q2M3W8

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