ZNHIT1 zinc finger HIT-type containing 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ZNHIT1provided by HGNC
Official Full Name: zinc finger HIT-type containing 1provided by HGNC
Primary source: HGNC:HGNC:21688
See related: Ensembl:ENSG00000106400 MIM:618617; AllianceGenome:HGNC:21688
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CG1I; ZNFN4A1; p18(Hamlet)
Summary: Enables histone binding activity. Involved in muscle cell differentiation and positive regulation of DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator. Located in nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in liver (RPKM 23.5), kidney (RPKM 21.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q22.1

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (101218165..101224190)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (102541627..102547653)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (100861446..100867471)

Chromosome 7 - NC_000007.14 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

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A combined proteomics and bioinformatics analysis of ZNHIT1-interacting proteins reveals a significant enrichment in proteins associated with mitochondrial function.
Title: A combined proteomics and bioinformatics analysis of ZNHIT1-interacting proteins reveals a significant enrichment in proteins associated with mitochondrial function.
Znhit1 and HIF-2alpha are correlated with cancer stem cell markers in breast cancer patients.
Title: Znhit1 and HIF-2α are correlated with cancer stem cell markers in breast cancer patients.
Gene Co-expression Analysis of the Human Substantia Nigra Identifies ZNHIT1 as an SNCA Co-expressed Gene that Protects Against alpha-Synuclein-Induced Impairments in Neurite Growth and Mitochondrial Dysfunction in SH-SY5Y Cells.
Title: Gene Co-expression Analysis of the Human Substantia Nigra Identifies ZNHIT1 as an SNCA Co-expressed Gene that Protects Against α-Synuclein-Induced Impairments in Neurite Growth and Mitochondrial Dysfunction in SH-SY5Y Cells.
Study reports that p18(Hamlet) can also mediate the cell cycle arrest induced in response to gamma-irradiation, by participating in the p53-dependent upregulation of the cell cycle inhibitor p21(Cip1) (CDKN1A).
Title: p18(Hamlet) mediates different p53-dependent responses to DNA-damage inducing agents.
p18(Hamlet) is a new cell-fate regulator that links the p38 MAPK and p53 pathways and contributes to the establishment of p53-regulated stress responses.
Title: A new p38 MAP kinase-regulated transcriptional coactivator that stimulates p53-dependent apoptosis.

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

D11S2921 (e-PCR)
- UniSTS:152074

GDB:4585013 (e-PCR)
- UniSTS:83213

L17705 (e-PCR)
- UniSTS:66091

SHGC-67307 (e-PCR)
- UniSTS:89991

WI-8602 (e-PCR)
- UniSTS:10126

G44334 (e-PCR)
- UniSTS:95121

D17S610 (e-PCR)
- UniSTS:46230

L17877 (e-PCR)
- UniSTS:61334

L17971 (e-PCR)
- UniSTS:43966

RH47378 (e-PCR)
- UniSTS:79091

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables histone binding	IPI Inferred from Physical Interaction more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables nucleosome binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in calcium ion homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in chromatin remodeling	ISS Inferred from Sequence or Structural Similarity more info
involved_in chromatin remodeling	NAS Non-traceable Author Statement more info	PubMed
involved_in heart process	ISS Inferred from Sequence or Structural Similarity more info
involved_in intestinal stem cell homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in muscle cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of lymphoid progenitor cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of transcription initiation by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of DNA-templated transcription	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of Swr1 complex	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
part_of nucleosome	NAS Non-traceable Author Statement more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: zinc finger HIT domain-containing protein 1

Names: H_DJ0747G18.14; cyclin-G1-binding protein 1; p18 Hamlet; p18Hamlet; putative cyclin G1 interacting protein; zinc finger protein subfamily 4A member 1; zinc finger protein, subfamily 4A (HIT domain containing), member 1; zinc finger, HIT domain containing 1; zinc finger, HIT type 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_006349.3 → NP_006340.1 zinc finger HIT domain-containing protein 1

See identical proteins and their annotated locations for NP_006340.1

Status: VALIDATED

Source sequence(s)

BC001877, BC017333

Consensus CDS

CCDS5716.1

UniProtKB/Swiss-Prot

O43257, Q6IB12

UniProtKB/TrEMBL

B2R5C5

Related

ENSP00000304593.2, ENST00000305105.3

Conserved Domains (2) summary

pfam04438
Location:113 → 140

zf-HIT; HIT zinc finger

cl02154
Location:75 → 135

YL1_C; YL1 nuclear protein C-terminal 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

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

101218165..101224190

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011515739.3 → XP_011514041.1 zinc finger HIT domain-containing protein 1 isoform X1

UniProtKB/TrEMBL

B2R5C5

Conserved Domains (2) summary

pfam04438
Location:128 → 155

zf-HIT; HIT zinc finger

cl02154
Location:90 → 150

YL1_C; YL1 nuclear protein C-terminal domain