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ZNF274 zinc finger protein 274 [ Homo sapiens (human) ]

Gene ID: 10782, updated on 2-Nov-2024

Summary

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Official Symbol
ZNF274provided by HGNC
Official Full Name
zinc finger protein 274provided by HGNC
Primary source
HGNC:HGNC:13068
See related
Ensembl:ENSG00000171606 MIM:605467; AllianceGenome:HGNC:13068
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
ZF2; HFB101; ZSCAN51; ZKSCAN19
Summary
This gene encodes a zinc finger protein containing five C2H2-type zinc finger domains, one or two Kruppel-associated box A (KRAB A) domains, and a leucine-rich domain. The encoded protein has been suggested to be a transcriptional repressor. It localizes predominantly to the nucleolus. Alternatively spliced transcript variants encoding different isoforms exist. These variants utilize alternative polyadenylation signals. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in thyroid (RPKM 9.7), ovary (RPKM 7.7) and 25 other tissues See more
Orthologs
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Genomic context

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See ZNF274 in Genome Data Viewer
Location:
19q13.43
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (58183061..58213562)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (61276790..61310024)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (58694428..58724928)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene zinc finger protein 329 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15178 Neighboring gene uncharacterized LOC124904784 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:58694039-58694752 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:58694753-58695464 Neighboring gene uncharacterized LOC105372479 Neighboring gene ribosomal protein S15a pseudogene 36 Neighboring gene zinc finger protein 436 pseudogene

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. Specific ZNF274 binding interference at SNORD116 activates the maternal transcripts in Prader-Willi syndrome neurons. Langouët M, et al. Hum Mol Genet, 2020 Nov 25. PMID 32977341, Free PMC Article
  2. Identification and characterization of human ZNF274 cDNA, which encodes a novel kruppel-type zinc-finger protein having nucleolar targeting ability. Yano K, et al. Genomics, 2000 Apr 1. PMID 10777669
  3. The KAP1 corepressor functions to coordinate the assembly of de novo HP1-demarcated microenvironments of heterochromatin required for KRAB zinc finger protein-mediated transcriptional repression. Sripathy SP, et al. Mol Cell Biol, 2006 Nov. PMID 16954381, Free PMC Article
  4. MAS promoter regulation: a role for Sry and tyrosine nitration of the KRAB domain of ZNF274 as a feedback mechanism. Prokop JW, et al. Clin Sci (Lond), 2014 May. PMID 24128372, Free PMC Article
  5. The structurally disordered KRAB repression domain is incorporated into a protease resistant core upon binding to KAP-1-RBCC domain. Peng H, et al. J Mol Biol, 2007 Jul 6. PMID 17512541

See all (28) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Specific ZNF274 binding interference at SNORD116 activates the maternal transcripts in Prader-Willi syndrome neurons.
    Title: Specific ZNF274 binding interference at SNORD116 activates the maternal transcripts in Prader-Willi syndrome neurons.
  2. A proximal promoter construct for the MAS gene was repressed by the SOX [SRY (sex-determining region on the Y chromosome) box] proteins SRY, SOX2, SOX3 and SOX14, of which SRY is known to interact with the KRAB domain.
    Title: MAS promoter regulation: a role for Sry and tyrosine nitration of the KRAB domain of ZNF274 as a feedback mechanism.
  3. analysis of a KRAB domain-containing ZNF (ZNF274) that is involved in recruitment of the KAP1 and SETDB1 to specific regions of the human genome
    Title: ZNF274 recruits the histone methyltransferase SETDB1 to the 3' ends of ZNF genes.
  4. KAP1 functions to coordinate activities that dynamically regulate changes in histone modifications and deposition of HP1 to establish a de novo microenvironment of heterochromatin, which is required for repression of gene transcription by KRAB-zfps.
    Title: The KAP1 corepressor functions to coordinate the assembly of de novo HP1-demarcated microenvironments of heterochromatin required for KRAB zinc finger protein-mediated transcriptional repression.
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)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ37843, DKFZp686K08243

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 chromatin binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables sequence-specific double-stranded DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in chromatin remodeling IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of transcription by RNA polymerase II TAS
Traceable Author Statement
more info
 PubMed 
involved_in regulation of DNA-templated transcription TAS
Traceable Author Statement
more info
 PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in nucleolus IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
neurotrophin receptor-interacting factor homolog
Names
KRAB zinc finger protein HFB101
zinc finger protein HFB101
zinc finger protein with KRAB and SCAN domains 19
zinc finger protein zfp2

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_001278734.2 → NP_001265663.1  neurotrophin receptor-interacting factor homolog isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (ZNF274d) has an additional segment in the 5' region, which results in a downstream translation start codon, compared to variant ZNF274c. The resulting isoform (d) has a shorter N-terminus and contains only one KRAB A domain, compared to isoform c.
    Source sequence(s)
    BC009763, CA942346, DC362701, DC366107
    Consensus CDS
    CCDS74475.1
    UniProtKB/TrEMBL
    A0A0A0MR47
    Related
    ENSP00000321209.5, ENST00000326804.8
    Conserved Domains (8) summary
    smart00431
    Location:115 → 227
    SCAN; leucine rich region
    smart00349
    Location:245 → 285
    KRAB; krueppel associated box
    COG5048
    Location:347 → 599
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:523 → 543
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:549 → 571
    zf-C2H2; Zinc finger, C2H2 type
    pfam01352
    Location:245 → 284
    KRAB; KRAB box
    pfam02023
    Location:115 → 203
    SCAN; SCAN domain
    pfam13465
    Location:563 → 588
    zf-H2C2_2; Zinc-finger double domain

  2. NM_016324.4 → NP_057408.2  neurotrophin receptor-interacting factor homolog isoform b

    See identical proteins and their annotated locations for NP_057408.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (ZNF274b) lacks three consecutive exons in the 5' region, which results in a downstream translation start codon, compared to variant ZNF274c. The resulting isoform (b) has a shorter N-terminus and contains only one KRAB A domain, compared to isoform c.
    Source sequence(s)
    AK222855, BC009763, CA942346, DC366107
    Consensus CDS
    CCDS74476.1
    UniProtKB/Swiss-Prot
    Q96GC6
    Related
    ENSP00000409872.3, ENST00000424679.6
    Conserved Domains (6) summary
    COG5048
    Location:284 → 536
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:460 → 480
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:486 → 508
    zf-C2H2; Zinc finger, C2H2 type
    pfam01352
    Location:181 → 222
    KRAB; KRAB box
    pfam02023
    Location:52 → 138
    SCAN; SCAN domain
    pfam13465
    Location:500 → 525
    zf-H2C2_2; Zinc-finger double domain

  3. NM_016325.4 → NP_057409.1  neurotrophin receptor-interacting factor homolog isoform a

    See identical proteins and their annotated locations for NP_057409.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (ZNF274a) lacks one in-frame coding exon, compared to variant ZNF274c. The resulting isoform (a) lacks an internal segment, compared to isoform c. Like isoform c, isoform a contains two KRAB A domains.
    Source sequence(s)
    AB029150, CA942346, DC366107
    Consensus CDS
    CCDS74474.1
    UniProtKB/Swiss-Prot
    Q96GC6
    Related
    ENSP00000321187.5, ENST00000345813.7
    Conserved Domains (8) summary
    smart00431
    Location:125 → 237
    SCAN; leucine rich region
    smart00349
    Location:255 → 295
    KRAB; krueppel associated box
    COG5048
    Location:357 → 612
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:533 → 553
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:559 → 581
    zf-C2H2; Zinc finger, C2H2 type
    pfam01352
    Location:14 → 53
    KRAB; KRAB box
    pfam02023
    Location:125 → 213
    SCAN; SCAN domain
    pfam13465
    Location:573 → 598
    zf-H2C2_2; Zinc-finger double domain

  4. NM_133502.3 → NP_598009.1  neurotrophin receptor-interacting factor homolog isoform c

    See identical proteins and their annotated locations for NP_598009.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (ZNF274c) encodes the longest isoform (c). Isoform c contains two KRAB A domains.
    Source sequence(s)
    AB029150, BC009763, CA942346, DC366107
    Consensus CDS
    CCDS74473.1
    UniProtKB/Swiss-Prot
    Q53XU4, Q6MZG1, Q8WY37, Q8WY38, Q92969, Q96GC6, Q9UII0, Q9UII1
    Related
    ENSP00000484810.1, ENST00000617501.5
    Conserved Domains (8) summary
    smart00431
    Location:157 → 269
    SCAN; leucine rich region
    smart00349
    Location:14 → 73
    KRAB; krueppel associated box
    COG5048
    Location:389 → 644
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:565 → 585
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:591 → 613
    zf-C2H2; Zinc finger, C2H2 type
    pfam01352
    Location:14 → 53
    KRAB; KRAB box
    pfam02023
    Location:157 → 245
    SCAN; SCAN domain
    pfam13465
    Location:605 → 630
    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
    58183061..58213562
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047438078.1 → XP_047294034.1  neurotrophin receptor-interacting factor homolog isoform X4

  2. XM_011526327.2 → XP_011524629.1  neurotrophin receptor-interacting factor homolog isoform X2

    See identical proteins and their annotated locations for XP_011524629.1

    UniProtKB/Swiss-Prot
    Q96GC6
    Conserved Domains (6) summary
    COG5048
    Location:284 → 536
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:460 → 480
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:486 → 508
    zf-C2H2; Zinc finger, C2H2 type
    pfam01352
    Location:181 → 222
    KRAB; KRAB box
    pfam02023
    Location:52 → 138
    SCAN; SCAN domain
    pfam13465
    Location:500 → 525
    zf-H2C2_2; Zinc-finger double domain

  3. XM_047438076.1 → XP_047294032.1  neurotrophin receptor-interacting factor homolog isoform X1

    UniProtKB/Swiss-Prot
    Q53XU4, Q6MZG1, Q8WY37, Q8WY38, Q92969, Q96GC6, Q9UII0, Q9UII1

  4. XM_017026175.2 → XP_016881664.1  neurotrophin receptor-interacting factor homolog isoform X4

    UniProtKB/TrEMBL
    B4DMH6

  5. XM_047438075.1 → XP_047294031.1  neurotrophin receptor-interacting factor homolog isoform X1

    UniProtKB/Swiss-Prot
    Q53XU4, Q6MZG1, Q8WY37, Q8WY38, Q92969, Q96GC6, Q9UII0, Q9UII1
    Related
    ENSP00000478533.1, ENST00000610905.4

  6. XM_047438077.1 → XP_047294033.1  neurotrophin receptor-interacting factor homolog isoform X2

  7. XM_011526328.3 → XP_011524630.1  neurotrophin receptor-interacting factor homolog isoform X3

    See identical proteins and their annotated locations for XP_011524630.1

    Conserved Domains (3) summary
    sd00017
    Location:250 → 270
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:276 → 298
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:290 → 315
    zf-H2C2_2; Zinc-finger double domain

RNA

  1. XR_007066543.1 RNA Sequence

  2. XR_001753589.3 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    61276790..61310024
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054319567.1 → XP_054175542.1  neurotrophin receptor-interacting factor homolog isoform X1

  2. XM_054319572.1 → XP_054175547.1  neurotrophin receptor-interacting factor homolog isoform X4

  3. XM_054319569.1 → XP_054175544.1  neurotrophin receptor-interacting factor homolog isoform X2

  4. XM_054319568.1 → XP_054175543.1  neurotrophin receptor-interacting factor homolog isoform X1

  5. XM_054319570.1 → XP_054175545.1  neurotrophin receptor-interacting factor homolog isoform X2

  6. XM_054319571.1 → XP_054175546.1  neurotrophin receptor-interacting factor homolog isoform X3

RNA

  1. XR_008485067.1 RNA Sequence

  2. XR_008485068.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001278735.1: Suppressed sequence

    Description
    NM_001278735.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96GC6.2 GenPept UniProtKB/Swiss-Prot:Q96GC6

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