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

Summary

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

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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

RNA-Seq evidence for lung tissue-specific monoallelic expression of ZNF124, located 363 kb upstream of the GCSAML somatic (secondary), imprinted differentially methylated region (iDMR). The ZNF124 locus has no overlapping hemimethylated CGIs in normal tissues, including lung tissue The GCSAML iDMR might regulate the lung tissue-specific, monoallelic expression of ZNF124. In the placenta, ZNF124 is biallelically expressed.
Title: Maternal 5(m)CpG Imprints at the PARD6G-AS1 and GCSAML Differentially Methylated Regions Are Decoupled From Parent-of-Origin Expression Effects in Multiple Human Tissues.

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

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

D11S2921 (e-PCR)
- UniSTS:152074

D8S2279 (e-PCR)
- UniSTS:473907

NoName (e-PCR)
- UniSTS:482883

AL034049 (e-PCR)
- UniSTS:93802

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

NG_029824.1 RefSeqGene

Range

4997..22028

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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
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

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

247121975..247172379 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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