ZHX1 zinc fingers and homeoboxes 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ZHX1provided by HGNC
Official Full Name: zinc fingers and homeoboxes 1provided by HGNC
Primary source: HGNC:HGNC:12871
See related: Ensembl:ENSG00000165156 MIM:604764; AllianceGenome:HGNC:12871
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
Summary: The members of the zinc fingers and homeoboxes gene family are nuclear homodimeric transcriptional repressors that interact with the A subunit of nuclear factor-Y (NF-YA) and contain two C2H2-type zinc fingers and five homeobox DNA-binding domains. This gene encodes member 1 of this gene family. In addition to forming homodimers, this protein heterodimerizes with members 2 and 3 of the zinc fingers and homeoboxes family. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream chromosome 8 open reading frame 76 (C8orf76) gene. [provided by RefSeq, Feb 2011]
Expression: Ubiquitous expression in thyroid (RPKM 19.7), esophagus (RPKM 16.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8q24.13

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (123248456..123275541, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (124379593..124406678, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (124260696..124287781, complement)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ZHX1 expression is correlated with renal cell carcinoma progression and poor survival.
Title: Expression and prognostic significance of zinc fingers and homeoboxes family members in renal cell carcinoma.
ZHX1 was found to play essential roles in the proliferation, migration, and invasion of cholangiocarcinoma cells, and its effect on the proliferation was mediated partially through EGR1.
Title: ZHX1 Promotes the Proliferation, Migration and Invasion of Cholangiocarcinoma Cells.
together, this study demonstrates that ZHX1 plays crucial roles in the progression of glioblastoma, and its findings suggest that ZHX1 be viewed as a potential prognostic maker and therapeutic target of glioblastoma.
Title: Roles of zinc-fingers and homeoboxes 1 during the proliferation, migration, and invasion of glioblastoma cells.
High-quality solution NMR structures of three homeodomains from human proteins ALX4, ZHX1 and CASP8AP2 were solved.
Title: Solution NMR structures of homeodomains from human proteins ALX4, ZHX1, and CASP8AP2 contribute to the structural coverage of the Human Cancer Protein Interaction Network.
miR-199a-3p may function as a novel tumor promoter in gastric cancer and its oncogenic activity may involve the direct targeting and inhibition of ZHX1
Title: MiR-199a-3p promotes gastric cancer progression by targeting ZHX1.
Low expression of ZHX1 may be responsible for hepatocarcinogenesis.
Title: Construction of a recombinant eukaryotic human ZHX1 gene expression plasmid and the role of ZHX1 in hepatocellular carcinoma.
Study showed that ZHX1 is SUMOylated by Ubc9 with SUMO1 at the sites K159, K454, and K626 and that the SUMOylation of ZHX1 regulated the stability, ubiquitination and transcriptional activity of ZHX1.
Title: The SUMOylation of zinc-fingers and homeoboxes 1 (ZHX1) by Ubc9 regulates its stability and transcriptional repression activity.
structure of the tandem zinc-finger region of human ZHX1
Title: The tandem zinc-finger region of human ZHX adopts a novel C2H2 zinc finger structure with a C-terminal extension.
This study characterized features of ZHX-1 involved in nuclear localization, dimerization, and transcriptional activity, and mapped these domains.
Title: Functional analysis and the molecular dissection of zinc-fingers and homeoboxes 1 (ZHX1).
ZHX proteins 1, 2 and 3 are major transcriptional mediators of podocyte disease
Title: ZHX proteins regulate podocyte gene expression during the development of nephrotic syndrome.

Submit: New GeneRIF Correction See all GeneRIFs (12)

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

SHGC-82245 (e-PCR)
- UniSTS:104193

RH78355 (e-PCR)
- UniSTS:71683

STS-T66784 (e-PCR)
- UniSTS:55045

STS-T66784 (e-PCR)
- UniSTS:31760

G30158 (e-PCR)
- UniSTS:61217

D8S1558 (e-PCR)
- UniSTS:153699

WI-11363 (e-PCR)
- UniSTS:69740

SHGC-53839 (e-PCR)
- UniSTS:81535

STS-D60292 (e-PCR)
- UniSTS:50610

RH98926 (e-PCR)
- UniSTS:87284

Readthrough ZHX1-C8orf76

Readthrough gene: ZHX1-C8orf76, Included gene: C8orf76

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay 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 chromatin	ISA Inferred from Sequence Alignment more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
is_active_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: zinc fingers and homeoboxes protein 1

Names: zinc finger and homeodomain protein 1; zinc fingers and homeobox 1

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)

NM_001017926.3 → NP_001017926.1 zinc fingers and homeoboxes protein 1

See identical proteins and their annotated locations for NP_001017926.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AF106862, AK025236, BC040481, CA776642, CN352595

Consensus CDS

CCDS6342.1

UniProtKB/Swiss-Prot

Q8IWD8, Q9UKY1

UniProtKB/TrEMBL

A8K0G7

Related

ENSP00000297857.2, ENST00000297857.3

Conserved Domains (3) summary

smart00389
Location:665 → 716

HOX; Homeodomain

cd00086
Location:468 → 523

homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

pfam11569
Location:785 → 821

Homez; Homeodomain leucine-zipper encoding, Homez
NM_007222.5 → NP_009153.3 zinc fingers and homeoboxes protein 1

See identical proteins and their annotated locations for NP_009153.3

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR, compared to variant 1. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AF195766, AK025236, BC040481, CA776642, DA238313

Consensus CDS

CCDS6342.1

UniProtKB/Swiss-Prot

Q8IWD8, Q9UKY1

UniProtKB/TrEMBL

A8K0G7

Related

ENSP00000378938.2, ENST00000395571.8

Conserved Domains (3) summary

smart00389
Location:665 → 716

HOX; Homeodomain

cd00086
Location:468 → 523

homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

pfam11569
Location:785 → 821

Homez; Homeodomain leucine-zipper encoding, Homez

RNA

NR_037873.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) contains an alternate first exon, 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 downstream ORF, as found in variant 1. Translation of the upstream ORF would render the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AF106862, AK025236, AK289532, BC040481, CA776642
NR_037874.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an internal coding exon, compared to variant 1. This variant is represented as non-coding because it lacks the entire coding region, as found in variant 1.

Source sequence(s)

AK025236, AK094451, BC040481, CA776642, DA238313