ZNF330 zinc finger protein 330 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ZNF330provided by HGNC
Official Full Name: zinc finger protein 330provided by HGNC
Primary source: HGNC:HGNC:15462
See related: Ensembl:ENSG00000109445 MIM:609550; AllianceGenome:HGNC:15462
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: NOA36; HSA6591
Summary: Predicted to enable zinc ion binding activity. Located in chromosome, centromeric region; midbody; and nuclear lumen. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in heart (RPKM 28.5), thyroid (RPKM 16.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4q31.21

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (141220535..141234697)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (144540345..144554401)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (142142049..142155851)

Chromosome 4 - NC_000004.12 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
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?

ZNF330/NOA36 interacts with HSPA1 and HSPA8 and modulates cell cycle and proliferation in response to heat shock in HEK293 cells.
Title: ZNF330/NOA36 interacts with HSPA1 and HSPA8 and modulates cell cycle and proliferation in response to heat shock in HEK293 cells.
NOA36 protein contains a highly conserved nucleolar localization signal capable of directing functional proteins to the nucleolus, in mammalian cells.
Title: NOA36 protein contains a highly conserved nucleolar localization signal capable of directing functional proteins to the nucleolus, in mammalian cells.
NOA36/ZNF330 is translocated from the mitochondria to the cytoplasm when apoptosis is induced and that it contributes to cytochrome c release.
Title: NOA36/ZNF330 is a conserved cystein-rich protein with proapoptotic activity in human cells.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study of conduct disorder symptomatology. 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-N21079 (e-PCR)
- UniSTS:28080

ZNF330_9546 (e-PCR)
- UniSTS:471798

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables metal ion binding	NAS Non-traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in chromosome, centromeric region	IDA Inferred from Direct Assay more info	PubMed
located_in midbody	IDA Inferred from Direct Assay more info	PubMed
located_in nucleolus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
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 330

Names: nucleolar autoantigen 36; nucleolar cysteine-rich protein; zinc finger autoantigen 330

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_001292002.2 → NP_001278931.1 zinc finger protein 330 isoform 2

See identical proteins and their annotated locations for NP_001278931.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, initiates translation at an alternate start codon and lacks an alternate exon in the 5' coding region, compared to variant 1. It encodes isoform 2, which is shorter and has a distinct N-terminus compared to isoform 1.

Source sequence(s)

AJ006591, AK002106, AK223609, AK294089, BC004421, BU532661

UniProtKB/TrEMBL

B4DFG9

Conserved Domains (1) summary

pfam06524
Location:11 → 208

NOA36; NOA36 protein
NM_014487.6 → NP_055302.1 zinc finger protein 330 isoform 1

See identical proteins and their annotated locations for NP_055302.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AJ006591, AK002106, AK223609, BC004421, BU532661

Consensus CDS

CCDS3754.1

UniProtKB/Swiss-Prot

B2RDA3, Q9Y3S2

UniProtKB/TrEMBL

Q53EN0

Related

ENSP00000262990.4, ENST00000262990.9

Conserved Domains (1) summary

pfam06524
Location:1 → 268

NOA36; NOA36 protein

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_000004.12 Reference GRCh38.p14 Primary Assembly

Range

141220535..141234697

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017008033.2 → XP_016863522.1 zinc finger protein 330 isoform X1

UniProtKB/Swiss-Prot

B2RDA3, Q9Y3S2

UniProtKB/TrEMBL

Q53EN0

Conserved Domains (1) summary

pfam06524
Location:1 → 268

NOA36; NOA36 protein
XM_024453986.2 → XP_024309754.1 zinc finger protein 330 isoform X1

UniProtKB/Swiss-Prot

B2RDA3, Q9Y3S2

UniProtKB/TrEMBL

Q53EN0

Conserved Domains (1) summary

pfam06524
Location:1 → 268

NOA36; NOA36 protein
XM_047450073.1 → XP_047306029.1 zinc finger protein 330 isoform X1

UniProtKB/Swiss-Prot

B2RDA3, Q9Y3S2

Alternate T2T-CHM13v2.0

Genomic

NC_060928.1 Alternate T2T-CHM13v2.0

Range

144540345..144554401

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054349699.1 → XP_054205674.1 zinc finger protein 330 isoform X1

UniProtKB/Swiss-Prot

B2RDA3, Q9Y3S2
XM_054349697.1 → XP_054205672.1 zinc finger protein 330 isoform X1

UniProtKB/Swiss-Prot

B2RDA3, Q9Y3S2
XM_054349698.1 → XP_054205673.1 zinc finger protein 330 isoform X1

UniProtKB/Swiss-Prot

B2RDA3, Q9Y3S2