ZNF335 zinc finger protein 335 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ZNF335provided by HGNC
Official Full Name: zinc finger protein 335provided by HGNC
Primary source: HGNC:HGNC:15807
See related: Ensembl:ENSG00000198026 MIM:610827; AllianceGenome:HGNC:15807
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
Also known as: NIF1; NIF2; NIF-1; MCPH10
Summary: The protein encoded by this gene enhances transcriptional activation by ligand-bound nuclear hormone receptors. However, it does this not by direct interaction with the receptor, but by direct interaction with the nuclear hormone receptor transcriptional coactivator NRC. The encoded protein may function by altering local chromatin structure. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in bone marrow (RPKM 8.9), skin (RPKM 7.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20q13.12

Exon count:: 28

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (45948660..45972203, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (47684713..47708265, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (44577299..44600842, complement)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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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?

Possible effect of OAS1 and TMPRSS6 but not DPP4 and ZNF335 polymorphisms on COVID-19 severity in the Czech population.
Title: Possible effect of OAS1 and TMPRSS6 but not DPP4 and ZNF335 polymorphisms on COVID-19 severity in the Czech population.
We describe, herein, 2 additional affected individuals with biallelic ZNF335 variants, 1 individual with a homozygous c.1399 T > C, p.(Cys467Arg) variant, and a second individual with compound heterozygous c.2171_2173delTCT, p.(Phe724del) and c.3998A > G, p.(Glu1333Gly) variants with the latter variant predicted to affect splicing..Our findings expand the clinical spectrum of ZNF335-associated microcephaly
Title: Expanding the clinical spectrum of biallelic ZNF335 variants.
ZNF335 gene mutation is associated with extreme microcephaly with a severely simplified gyral pattern, decreased brain size, increased extra-axial space, enlarged ventricles, absence of the corpus callosum and delayed myelination
Title: Anaesthesia and orphan disease: primary autosomal recessive microcephaly-10 caused by a mutation in the ZNF335 gene.
In this article, we describe another family harboring ZNF335 mutations. The mutations were individually transmitted by her parents, indicating that the proband was compound heterozygous for the mutations. We speculate that invisible basal ganglia may be the key feature of ZNF335 mutations.
Title: Association Between Invisible Basal Ganglia and ZNF335 Mutations: A Case Report.
we performed a meta-analysis of our data with the previous reports, identifying two further loci harbouring the ZNF335 and NIFA genes which now exceed genome-wide significance, taking the total number of CD susceptibility loci to 42.
Title: Common polygenic variation in coeliac disease and confirmation of ZNF335 and NIFA as disease susceptibility loci.
NIF-1 expression is associated with tumor grade in bladder cancer.
Title: IMAC fractionation in combination with LC-MS reveals H2B and NIF-1 peptides as potential bladder cancer biomarkers.
Study identifies and characterizes a nuclear zinc finger protein, ZNF335/NIF-1, as a causative gene for severe microcephaly, small somatic size, and neonatal death.
Title: Microcephaly gene links trithorax and REST/NRSF to control neural stem cell proliferation and differentiation.
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.
CCR4 plays a role in the regulation of certain endogenous RARalpha target genes and RCD1 and CCR4 might mediate their function through their interaction with NIF-1
Title: Components of the CCR4-NOT complex function as nuclear hormone receptor coactivators via association with the NRC-interacting Factor NIF-1.
NRC-interacting factor 1 is a novel cotransducer that interacts with and regulates the activity of the nuclear hormone receptor coactivator NRC
Title: NRC-interacting factor 1 is a novel cotransducer that interacts with and regulates the activity of the nuclear hormone receptor coactivator NRC.

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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

Associated conditions

Description	Tests
Microcephalic primordial dwarfism due to ZNF335 deficiency MedGen: C3554499 OMIM: 615095 GeneReviews: Not available	Compare labs

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

Z94554 (e-PCR)
- UniSTS:73528

G60052 (e-PCR)
- UniSTS:137314

RH12680 (e-PCR)
- UniSTS:50538

NIB54 (e-PCR)
- UniSTS:76410

G43266 (e-PCR)
- UniSTS:94910

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables histone methyltransferase binding	IEA Inferred from Electronic Annotation 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 transcription cis-regulatory region binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in brain development	IBA Inferred from Biological aspect of Ancestor more info
involved_in brain development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in brain morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in cerebral cortex neuron differentiation	IEA Inferred from Electronic Annotation more info
involved_in epigenetic regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in in utero embryonic development	IEA Inferred from Electronic Annotation more info
involved_in neuron projection morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of lymphocyte proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of neuroblast proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of neurogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of neurogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of histone methyltransferase complex	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
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: zinc finger protein 335

Names: NRC-interacting factor 1; zinc-finger/leucine-zipper co-transducer NIF1

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.

Genomic

NG_029772.1 RefSeqGene

Range

4992..28535

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_022095.4 → NP_071378.1 zinc finger protein 335

See identical proteins and their annotated locations for NP_071378.1

Status: REVIEWED

Source sequence(s)

AF395833, AL162458, BC041331, BF755826

Consensus CDS

CCDS13389.1

UniProtKB/Swiss-Prot

B4DLG7, Q548D0, Q9H4Z2, Q9H684

Related

ENSP00000325326.2, ENST00000322927.3

Conserved Domains (6) summary

PRK04654
Location:795 → 911

PRK04654; sec-independent translocase; Provisional

sd00017
Location:1049 → 1069

ZF_C2H2; C2H2 Zn finger [structural motif]

sd00019
Location:529 → 545

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00096
Location:590 → 612

zf-C2H2; Zinc finger, C2H2 type

pfam13465
Location:1089 → 1114

zf-H2C2_2; Zinc-finger double domain

pfam13909
Location:1075 → 1097

zf-H2C2_5; C2H2-type zinc-finger 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_000020.11 Reference GRCh38.p14 Primary Assembly

Range

45948660..45972203 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005260504.5 → XP_005260561.1 zinc finger protein 335 isoform X2

Conserved Domains (6) summary

PRK04654
Location:794 → 910

PRK04654; sec-independent translocase; Provisional

sd00017
Location:1048 → 1068

ZF_C2H2; C2H2 Zn finger [structural motif]

sd00019
Location:528 → 544

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00096
Location:589 → 611

zf-C2H2; Zinc finger, C2H2 type

pfam13465
Location:1088 → 1113

zf-H2C2_2; Zinc-finger double domain

pfam13909
Location:1074 → 1096

zf-H2C2_5; C2H2-type zinc-finger domain
XM_047440363.1 → XP_047296319.1 zinc finger protein 335 isoform X1

UniProtKB/Swiss-Prot

B4DLG7, Q548D0, Q9H4Z2, Q9H684
XM_011528979.4 → XP_011527281.1 zinc finger protein 335 isoform X3

Conserved Domains (4) summary

sd00017
Location:564 → 584

ZF_C2H2; C2H2 Zn finger [structural motif]

sd00019
Location:529 → 545

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00096
Location:590 → 612

zf-C2H2; Zinc finger, C2H2 type

pfam13465
Location:577 → 600

zf-H2C2_2; Zinc-finger double domain
XM_047440364.1 → XP_047296320.1 zinc finger protein 335 isoform X4
XM_047440365.1 → XP_047296321.1 zinc finger protein 335 isoform X5