ZNF480 zinc finger protein 480 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ZNF480provided by HGNC
Official Full Name: zinc finger protein 480provided by HGNC
Primary source: HGNC:HGNC:23305
See related: Ensembl:ENSG00000198464 MIM:613910; AllianceGenome:HGNC:23305
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
Summary: Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in thyroid (RPKM 3.1), lymph node (RPKM 2.7) and 25 other tissues See more
Orthologs: all
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Genomic context

Location:: 19q13.41

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (52297169..52325922)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (55384358..55413117)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (52800422..52829175)

Chromosome 19 - NC_000019.10 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?

This supports the notion that de novo mutations in ZNF480 are extremely rare in schizophrenia
Title: Investigation of rare variants in LRP1, KPNA1, ALS2CL and ZNF480 genes in schizophrenia patients reflects genetic heterogeneity of the disease.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

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)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of zinc finger protein 480 (ZNF480) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1	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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-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
located_in cytosol	IDA Inferred from Direct Assay 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

General protein information

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Preferred Names: zinc finger protein 480

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_001297624.2 → NP_001284553.1 zinc finger protein 480 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. It encodes isoform 2, which lacks an internal segment and is shorter, compared to isoform 1.

Source sequence(s)

AC010320, AK303271, AL832560, DA501214

Consensus CDS

CCDS77346.1

UniProtKB/TrEMBL

F8WEZ9

Related

ENSP00000334164.6, ENST00000334564.11

Conserved Domains (6) summary

smart00349
Location:27 → 67

KRAB; krueppel associated box

COG5048
Location:115 → 458

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:302 → 322

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00096
Location:356 → 378

zf-C2H2; Zinc finger, C2H2 type

pfam01352
Location:27 → 66

KRAB; KRAB box

pfam13465
Location:454 → 479

zf-H2C2_2; Zinc-finger double domain
NM_001297625.2 → NP_001284554.1 zinc finger protein 480 isoform 3

See identical proteins and their annotated locations for NP_001284554.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform 3, which has a shorter N-terminus, compared to isoform 1.

Source sequence(s)

AC010320, AK096442, AL832560, DA501214

Consensus CDS

CCDS74437.1

UniProtKB/Swiss-Prot

Q8WV37

Related

ENSP00000335670.6, ENST00000335090.6

Conserved Domains (4) summary

COG5048
Location:81 → 424

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:268 → 288

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00096
Location:322 → 344

zf-C2H2; Zinc finger, C2H2 type

pfam13465
Location:420 → 445

zf-H2C2_2; Zinc-finger double domain
NM_001412109.1 → NP_001399038.1 zinc finger protein 480 isoform 4

Status: VALIDATED

Description

Transcript Variant: This variant (4) represents an alternate allele of this gene in several human genome assemblies including T2T-CHM13v2.0. It includes a 'TG' deletion (rs3217319) compared to GRCh38, resulting in the use of a downstream start codon. The encoded protein (isoform 4) has a shorter N-terminus compared to isoform 1.

Source sequence(s)

CP068259
NM_144684.4 → NP_653285.2 zinc finger protein 480 isoform 1

See identical proteins and their annotated locations for NP_653285.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein.

Source sequence(s)

AC010320, AK096442, AK303271, AL832560, AY512662, DA501214

Consensus CDS

CCDS12850.2

UniProtKB/Swiss-Prot

Q5JPG9, Q6P0Q4, Q8N1M5, Q8WV37

Related

ENSP00000471754.1, ENST00000595962.6

Conserved Domains (6) summary

smart00349
Location:27 → 87

KRAB; krueppel associated box

COG5048
Location:158 → 501

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:345 → 365

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00096
Location:399 → 421

zf-C2H2; Zinc finger, C2H2 type

pfam01352
Location:27 → 66

KRAB; KRAB box

pfam13465
Location:497 → 522

zf-H2C2_2; Zinc-finger double domain