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ZNF124 zinc finger protein 124 [ Homo sapiens (human) ]

Gene ID: 7678, updated on 11-Apr-2024

Summary

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Official Symbol
ZNF124provided by HGNC
Official Full Name
zinc finger protein 124provided by HGNC
Primary source
HGNC:HGNC:12907
See related
Ensembl:ENSG00000196418 MIM:194631; AllianceGenome:HGNC:12907
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
ZK7; HZF16; HZF-16
Summary
This gene encodes a protein with an amino-terminal KRAB-A box and multiple repeated Kruppel-type (C2H2) zinc finger motifs at its carboxy terminus. The encoded protein may function as a transcription factor. Expression of this gene is increased after vascular endothelial growth factor (VEGF) stimulation in human leukemia cell lines and results in inhibition of apoptotic cell death induced by irradiation or exposure to etoposide. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2014]
Expression
Ubiquitous expression in colon (RPKM 1.3), small intestine (RPKM 1.0) and 25 other tissues See more
Orthologs
all
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Genomic context

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Location:
1q44
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (247121975..247172379, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (246554343..246605436, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (247285277..247335322, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2897 Neighboring gene fibroblast growth factor receptor 3 pseudogene 6 Neighboring gene Sharpr-MPRA regulatory region 5824 Neighboring gene peroxisomal biogenesis factor 5 pseudogene Neighboring gene vomeronasal 1 receptor 16 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
  • 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. Dandy-Walker complex in a boy with a 5 Mb deletion of region 1q44 due to a paternal t(1;20)(q44;q13.33). Poot M, et al. Am J Med Genet A, 2007 May 15. PMID 17431901
  2. Expression of the Krüppel-type zinc finger gene, ZK7, in head and neck squamous cell carcinoma and normal mucosa. Miyake N, et al. Cancer Lett, 2002 Nov 8. PMID 12142086
  3. ZK7, a novel zinc finger gene, is induced by vascular endothelial growth factor and inhibits apoptotic death in hematopoietic cells. Kuramoto K, et al. Cancer Res, 2000 Jan 15. PMID 10667597
  4. A novel zinc finger gene on human chromosome 1qter that is alternatively spliced in human tissues and cell lines. Saleh M, et al. Am J Hum Genet, 1993 Jan. PMID 7916577, Free PMC Article
  5. Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample. Kendler KS, et al. Alcohol Clin Exp Res, 2011 May. PMID 21314694, Free PMC Article

See all (24) 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

EBI GWAS Catalog

Description
Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.
EBI GWAS Catalog

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

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of zinc finger protein 124 (ZNF124) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC117046

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding TAS
Traceable Author Statement
more info
 PubMed 
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
  
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
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 124
Names
zinc finger protein HZF-16

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_029824.1 RefSeqGene

    Range
    4997..22028
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001243740.3 → NP_001230669.1  zinc finger protein 124 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an exon and contains an alternate 3' terminal exon, resulting in a different 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AK054647, AL390728, BC032514, DA610013, DA911997
    Consensus CDS
    CCDS58067.1
    UniProtKB/Swiss-Prot
    Q15973
    Related
    ENSP00000462445.1, ENST00000472531.5
    Conserved Domains (1) summary
    pfam01352
    Location:12 → 53
    KRAB; KRAB box

  2. NM_001297567.2 → NP_001284496.1  zinc finger protein 124 isoform 3

    See identical proteins and their annotated locations for NP_001284496.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an exon and contains an alternate 3' terminal exon, resulting in a different 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (3) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AL390728, BC013605, DA911997
    Consensus CDS
    CCDS76278.1
    UniProtKB/TrEMBL
    J3QKQ6
    Related
    ENSP00000463191.1, ENST00000491356.5
    Conserved Domains (1) summary
    pfam01352
    Location:12 → 53
    KRAB; KRAB box

  3. NM_001297568.2 → NP_001284497.1  zinc finger protein 124 isoform 4

    See identical proteins and their annotated locations for NP_001284497.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The encoded isoform (4) is longer than isoform 1.
    Source sequence(s)
    AK054647, AL390728, BC096351, BU607971, DA911997
    Consensus CDS
    CCDS73057.1
    UniProtKB/Swiss-Prot
    B3KNP3, J3KSE1, Q15973, Q15974, Q4VAJ7, Q5T2V4
    Related
    ENSP00000440365.2, ENST00000543802.3
    Conserved Domains (3) summary
    COG5048
    Location:176 → 338
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:180 → 200
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:12 → 53
    KRAB; KRAB box

  4. NM_001297569.2 → NP_001284498.1  zinc finger protein 124 isoform 5

    See identical proteins and their annotated locations for NP_001284498.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (5) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AK054647, AL390728, BU607971, DA911997, DN993107
    UniProtKB/Swiss-Prot
    Q15973
    Conserved Domains (2) summary
    smart00349
    Location:13 → 55
    KRAB; krueppel associated box
    pfam01352
    Location:13 → 52
    KRAB; KRAB box

  5. NM_003431.5 → NP_003422.2  zinc finger protein 124 isoform 1

    See identical proteins and their annotated locations for NP_003422.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform 1.
    Source sequence(s)
    AL390728
    Consensus CDS
    CCDS31089.1
    UniProtKB/Swiss-Prot
    Q15973
    Related
    ENSP00000340749.6, ENST00000340684.10
    Conserved Domains (3) summary
    COG5048
    Location:114 → 276
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:118 → 138
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:12 → 53
    KRAB; KRAB box

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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    247121975..247172379 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011544272.4 → XP_011542574.1  zinc finger protein 124 isoform X1

    Conserved Domains (5) summary
    smart00349
    Location:5 → 47
    KRAB; krueppel associated box
    COG5048
    Location:168 → 330
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:172 → 192
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:5 → 44
    KRAB; KRAB box
    pfam13465
    Location:184 → 209
    zf-H2C2_2; Zinc-finger double domain

RNA

  1. XR_001737398.3 RNA Sequence

  2. XR_007063653.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    246554343..246605436 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054338625.1 → XP_054194600.1  zinc finger protein 124 isoform X2

    UniProtKB/Swiss-Prot
    B3KNP3, J3KSE1, Q15973, Q15974, Q4VAJ7, Q5T2V4

  2. XM_054338626.1 → XP_054194601.1  zinc finger protein 124 isoform X2

    UniProtKB/Swiss-Prot
    B3KNP3, J3KSE1, Q15973, Q15974, Q4VAJ7, Q5T2V4

  3. XM_054338629.1 → XP_054194604.1  zinc finger protein 124 isoform X1

  4. XM_054338627.1 → XP_054194602.1  zinc finger protein 124 isoform X2

    UniProtKB/Swiss-Prot
    B3KNP3, J3KSE1, Q15973, Q15974, Q4VAJ7, Q5T2V4

  5. XM_054338628.1 → XP_054194603.1  zinc finger protein 124 isoform X2

    UniProtKB/Swiss-Prot
    B3KNP3, J3KSE1, Q15973, Q15974, Q4VAJ7, Q5T2V4
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q15973.2 GenPept UniProtKB/Swiss-Prot:Q15973

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