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    ZNF195 zinc finger protein 195 [ Homo sapiens (human) ]

    Gene ID: 7748, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ZNF195provided by HGNC
    Official Full Name
    zinc finger protein 195provided by HGNC
    Primary source
    HGNC:HGNC:12986
    See related
    Ensembl:ENSG00000005801 MIM:602187; AllianceGenome:HGNC:12986
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HRF1; ZNFP104
    Summary
    This gene encodes a protein belonging to the Krueppel C2H2-type zinc-finger protein family. These family members are transcription factors that are implicated in a variety of cellular processes. This gene is located near the centromeric border of chromosome 11p15.5, next to an imprinted domain that is associated with maternal-specific loss of heterozygosity in Wilms' tumors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]
    Expression
    Ubiquitous expression in brain (RPKM 4.9), thyroid (RPKM 4.7) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See ZNF195 in Genome Data Viewer
    Location:
    11p15.4
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (3357927..3379146, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (3403249..3424539, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (3379157..3400376, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene NADH:ubiquinone oxidoreductase subunit A5 pseudogene 1 Neighboring gene vomeronasal 1 receptor 56 pseudogene Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:3400077-3400640 Neighboring gene tumor suppressing subtransferable candidate 2 (pseudogene) Neighboring gene olfactory receptor family 7 subfamily E member 12 pseudogene Neighboring gene Sharpr-MPRA regulatory region 4578 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:3425235-3426069 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:3426070-3426903 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:3427261-3427774 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:3427775-3428286 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:3430516-3431016 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:3431017-3431517 Neighboring gene family with sequence similarity 86, member A pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3077 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3078

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Characterization of a KRAB family zinc finger gene, ZNF195, mapping to chromosome band 11p15.5. Hussey DJ, et al. Genomics, 1997 Oct 15. PMID 9344677
    2. Differential display analysis of oxygen-mediated changes in gene expression in first trimester human trophoblast cells. Pak BJ, et al. Placenta, 1998 Sep. PMID 9778121
    3. DNA microarray reveals ZNF195 and SBF1 are potential biomarkers for gemcitabine sensitivity in head and neck squamous cell carcinoma cell lines. Zhu MH, et al. Int J Clin Exp Pathol, 2014. PMID 24817947, Free PMC Article
    4. An integrated physical map of 210 markers assigned to the short arm of human chromosome 11. Redeker E, et al. Genomics, 1994 Jun. PMID 7959730
    5. Multipoint analysis of human chromosome 11p15/mouse distal chromosome 7: inclusion of H19/IGF2 in the minimal WT2 region, gene specificity of H19 silencing in Wilms' tumorigenesis and methylation hyper-dependence of H19 imprinting. Dao D, et al. Hum Mol Genet, 1999 Jul. PMID 10369881

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ZNF195 and SBF1 are potential biomarkers for gemcitabine sensitivity in head and neck squamous cell carcinoma cell lines.
      Title: DNA microarray reveals ZNF195 and SBF1 are potential biomarkers for gemcitabine sensitivity in head and neck squamous cell carcinoma cell lines.
    Submit: New GeneRIF Correction

    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp666D035

    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 zinc ion binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger protein 195
    Names
    hypoxia-regulated factor-1
    krueppel family zinc finger protein (znfp104)

    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.

    Genomic

    1. NG_032109.1 RefSeqGene

      Range
      5077..26296
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001130519.3 → NP_001123991.1  zinc finger protein 195 isoform 2

      See identical proteins and their annotated locations for NP_001123991.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1.
      Source sequence(s)
      AC123788, AL833722, BC121029
      Consensus CDS
      CCDS44521.1
      UniProtKB/Swiss-Prot
      O14628
      Related
      ENSP00000005082.9, ENST00000005082.13
      Conserved Domains (3) summary
      smart00349
      Location:4 → 64
      KRAB; krueppel associated box
      COG5048
      Location:202 → 606
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:501 → 521
      ZF_C2H2; C2H2 Zn finger [structural motif]

    2. NM_001130520.3 → NP_001123992.1  zinc finger protein 195 isoform 1

      See identical proteins and their annotated locations for NP_001123992.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC123788, AK290099, AL833722
      Consensus CDS
      CCDS44522.1
      UniProtKB/Swiss-Prot
      A8K234, B3KTK2, B4DEL0, C9JLY9, L7MNK2, O14628, Q0VAJ6, Q658N8, Q6ZNA9
      Related
      ENSP00000382511.4, ENST00000399602.9
      Conserved Domains (5) summary
      smart00349
      Location:4 → 64
      KRAB; krueppel associated box
      COG5048
      Location:225 → 629
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:524 → 544
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:4 → 43
      KRAB; KRAB box
      pfam13465
      Location:592 → 617
      zf-H2C2_2; Zinc-finger double domain

    3. NM_001242841.2 → NP_001229770.1  zinc finger protein 195 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in its 5' UTR, uses an alternate start codon, and lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (4) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC123788, AK293679, AL833722
      Consensus CDS
      CCDS55737.1
      UniProtKB/Swiss-Prot
      O14628
      Related
      ENSP00000435828.1, ENST00000526601.5
      Conserved Domains (5) summary
      smart00349
      Location:8 → 68
      KRAB; krueppel associated box
      COG5048
      Location:206 → 610
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:505 → 525
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:8 → 47
      KRAB; KRAB box
      pfam13465
      Location:573 → 598
      zf-H2C2_2; Zinc-finger double domain

    4. NM_001242842.2 → NP_001229771.1  zinc finger protein 195 isoform 5

      See identical proteins and their annotated locations for NP_001229771.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in its 5' UTR, uses an alternate start codon, and lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (5) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC123788, AK308068, AL833722
      UniProtKB/Swiss-Prot
      O14628
      Conserved Domains (5) summary
      smart00349
      Location:8 → 68
      KRAB; krueppel associated box
      COG5048
      Location:180 → 584
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:479 → 499
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:8 → 47
      KRAB; KRAB box
      pfam13465
      Location:547 → 572
      zf-H2C2_2; Zinc-finger double domain

    5. NM_001242843.2 → NP_001229772.1  zinc finger protein 195 isoform 6

      See identical proteins and their annotated locations for NP_001229772.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in its 5' UTR, uses an alternate start codon, and lacks two alternate in-frame exons in the 3' coding region, compared to variant 1. The encoded isoform (6) has a distinct N-terminus and is shorter than isoform 1. Both variants 6 and 12 encode isoform 6.
      Source sequence(s)
      AC123788, AL833722, CX867141
      Consensus CDS
      CCDS55736.1
      UniProtKB/Swiss-Prot
      O14628
      Related
      ENSP00000387998.2, ENST00000429541.6
      Conserved Domains (5) summary
      smart00349
      Location:8 → 68
      KRAB; krueppel associated box
      COG5048
      Location:157 → 561
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:456 → 476
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:8 → 47
      KRAB; KRAB box
      pfam13465
      Location:524 → 549
      zf-H2C2_2; Zinc-finger double domain

    6. NM_001256823.2 → NP_001243752.1  zinc finger protein 195 isoform 7

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) differs in its 5' UTR, uses an alternate start codon, and lacks two alternate exons but includes an additional exon that causes a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (7) has distinct N- and C-termini and is shorter than isoform 1.
      Source sequence(s)
      AC123788, AL833722, BM462194
      Consensus CDS
      CCDS58111.1
      UniProtKB/TrEMBL
      E9PIN4, E9PPF8
      Related
      ENSP00000414353.2, ENST00000438262.6
      Conserved Domains (2) summary
      smart00349
      Location:8 → 68
      KRAB; krueppel associated box
      pfam01352
      Location:8 → 47
      KRAB; KRAB box

    7. NM_001256824.2 → NP_001243753.1  zinc finger protein 195 isoform 8

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11) differs in its 5' UTR, uses an alternate start codon, uses an alternate in-frame splice site and lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (8) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC123788, AL833722, DA713258
      UniProtKB/Swiss-Prot
      O14628
      Conserved Domains (5) summary
      smart00349
      Location:8 → 68
      KRAB; krueppel associated box
      COG5048
      Location:188 → 592
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:487 → 507
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:8 → 47
      KRAB; KRAB box
      pfam13465
      Location:555 → 580
      zf-H2C2_2; Zinc-finger double domain

    8. NM_001256825.2 → NP_001243754.1  zinc finger protein 195 isoform 6

      See identical proteins and their annotated locations for NP_001243754.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12) differs in its 5' UTR, uses an alternate start codon, and lacks two alternate in-frame exons in the 3' coding region, compared to variant 1. The encoded isoform (6) has a distinct N-terminus and is shorter than isoform 1. Both variants 6 and 12 encode isoform 6.
      Source sequence(s)
      AC123788, AL833722, DA618142
      Consensus CDS
      CCDS55736.1
      UniProtKB/Swiss-Prot
      O14628
      Related
      ENSP00000344483.7, ENST00000343338.11
      Conserved Domains (5) summary
      smart00349
      Location:8 → 68
      KRAB; krueppel associated box
      COG5048
      Location:157 → 561
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:456 → 476
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:8 → 47
      KRAB; KRAB box
      pfam13465
      Location:524 → 549
      zf-H2C2_2; Zinc-finger double domain

    9. NM_007152.5 → NP_009083.2  zinc finger protein 195 isoform 3

      See identical proteins and their annotated locations for NP_009083.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two alternate in-frame exons in the 3' coding region, compared to variant 1, resulting in an isoform (3) that is shorter than isoform 1.
      Source sequence(s)
      AC123788, AL833722
      Consensus CDS
      CCDS41604.1
      UniProtKB/Swiss-Prot
      O14628
      Related
      ENSP00000346613.6, ENST00000354599.10
      Conserved Domains (5) summary
      smart00349
      Location:4 → 64
      KRAB; krueppel associated box
      COG5048
      Location:320 → 497
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:452 → 472
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:4 → 43
      KRAB; KRAB box
      pfam13465
      Location:520 → 545
      zf-H2C2_2; Zinc-finger double domain

    RNA

    1. NR_040083.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) includes two additional exons in the 5' region, and lacks two exons in the 3' region, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest in-frame ORF. Translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC123788, AK131296, AL833722

    2. NR_046381.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) includes an additional exon in both the 5' and 3' regions, but lacks a different exon in the 3' region, compared to variant 1. This variant is represented as non-coding because the use of the expected translational start codon, as used in variant 4, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC123788, AL833722, DB294374

    3. NR_046382.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) includes an additional exon in the 5' region, and lacks two exons in the 3' region, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest in-frame ORF. Translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC123788, AL833722, DA170927, DA984929

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      3357927..3379146 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      3403249..3424539 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O14628.2 GenPept UniProtKB/Swiss-Prot:O14628

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