ZNF555 zinc finger protein 555 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ZNF555provided by HGNC
Official Full Name: zinc finger protein 555provided by HGNC
Primary source: HGNC:HGNC:28382
See related: Ensembl:ENSG00000186300 AllianceGenome:HGNC:28382
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 repressor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in testis (RPKM 1.7), ovary (RPKM 1.1) and 25 other tissues See more
Orthologs: all
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Genomic context

Location:: 19p13.3

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (2841475..2860471)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (2816764..2835759)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (2841473..2860469)

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?

Identification of ZNF555 as a putative transcriptional factor highly expressed in human primary myoblasts that interacts with the beta-satellite repeats enhancer site and impacts the ANT1 promoter activity in facioscapulohumeral dystrophy myoblasts.
Title: ZNF555 protein binds to transcriptional activator site of 4qA allele and ANT1: potential implication in Facioscapulohumeral dystrophy.

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

G35510 (e-PCR)
- UniSTS:44150

D13S1568 (e-PCR)
- UniSTS:473497

GDB:631802 (e-PCR)
- UniSTS:158429

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 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 555

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_001172775.2 → NP_001166246.1 zinc finger protein 555 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site, compared to variant 1. The resulting isoform (2) lacks one internal amino acid, compared to isoform 1.

Source sequence(s)

AC006130

Consensus CDS

CCDS59329.1

UniProtKB/Swiss-Prot

Q8NEP9

Related

ENSP00000467893.1, ENST00000591539.1

Conserved Domains (5) summary

smart00349
Location:4 → 48

KRAB; krueppel associated box

COG5048
Location:197 → 594

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

sd00017
Location:509 → 529

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam01352
Location:4 → 43

KRAB; KRAB box

pfam13465
Location:437 → 461

zf-H2C2_2; Zinc-finger double domain
NM_152791.5 → NP_690004.4 zinc finger protein 555 isoform 1

See identical proteins and their annotated locations for NP_690004.4

Status: VALIDATED

Description

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

Source sequence(s)

AC006130

Consensus CDS

CCDS12096.1

UniProtKB/Swiss-Prot

A8KA89, K7EQM2, Q8NA46, Q8NEP9, Q96MP1

Related

ENSP00000334853.3, ENST00000334241.9

Conserved Domains (5) summary

smart00349
Location:4 → 48

KRAB; krueppel associated box

COG5048
Location:198 → 595

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

sd00017
Location:510 → 530

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam01352
Location:4 → 43

KRAB; KRAB box

pfam13465
Location:438 → 462

zf-H2C2_2; Zinc-finger double domain

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_000019.10 Reference GRCh38.p14 Primary Assembly

Range

2841475..2860471

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017026375.2 → XP_016881864.1 zinc finger protein 555 isoform X2
XM_011527716.3 → XP_011526018.1 zinc finger protein 555 isoform X1

Conserved Domains (5) summary

smart00349
Location:6 → 50

KRAB; krueppel associated box

COG5048
Location:200 → 597

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

sd00017
Location:512 → 532

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam01352
Location:6 → 45

KRAB; KRAB box

pfam13465
Location:440 → 464

zf-H2C2_2; Zinc-finger double domain