NAIF1 nuclear apoptosis inducing factor 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NAIF1provided by HGNC
Official Full Name: nuclear apoptosis inducing factor 1provided by HGNC
Primary source: HGNC:HGNC:25446
See related: Ensembl:ENSG00000171169 MIM:610673; AllianceGenome:HGNC:25446
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: C9orf90; bA379C10.2
Summary: Involved in negative regulation of cell growth and regulation of mitochondrial membrane permeability involved in apoptotic process. Located in cytosol; nucleoplasm; and plasma membrane. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in testis (RPKM 3.6), spleen (RPKM 2.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q34.11

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (128061233..128067320, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (140269203..140275296, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (130823512..130829599, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Long noncoding RNA SRY-box transcription factor 2 overlapping transcript participates in Parkinson's disease by regulating the microRNA-942-5p/nuclear apoptosis-inducing factor 1 axis.
Title: Long noncoding RNA SRY-box transcription factor 2 overlapping transcript participates in Parkinson's disease by regulating the microRNA-942-5p/nuclear apoptosis-inducing factor 1 axis.
MicroRNA-351 Promotes the Proliferation and Invasion of Glioma Cells through Downregulation of NAIF1.
Title: MicroRNA-351 Promotes the Proliferation and Invasion of Glioma Cells through Downregulation of NAIF1.
MiR-24 acted as an oncomir, at least partially through regulation of its functional target NAIF1 in non-small cell lung cancer.
Title: Upregulation of miR-24 promotes cell proliferation by targeting NAIF1 in non-small cell lung cancer.
NAIF1 plays a role in regulating cellular migration and invasion through the MAPK pathways and may function as a tumor suppressor in the progression of gastric carcinoma.
Title: NAIF1 inhibits gastric cancer cells migration and invasion via the MAPK pathways.
NAIF1 is down-regulated in gastric cancer.
Title: NAIF1 is down-regulated in gastric cancer and promotes apoptosis through the caspase-9 pathway in human MKN45 cells.
The functions of two transposon-derived human proteins: HARBI1, a domesticated transposase-derived protein, and NAIF1, which contains a trihelix motif similar to that described in the Myb-like protein, was investigated.
Title: Transposition of a reconstructed Harbinger element in human cells and functional homology with two transposon-derived cellular genes.
NAIF1 (C9orf90)is a nuclear protein that induces apoptosis when overexpressed
Title: Overexpression of the novel human gene, nuclear apoptosis-inducing factor 1, induces apoptosis.

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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

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

PMC156606P2 (e-PCR)
- UniSTS:271409

PMC156606P3 (e-PCR)
- UniSTS:271410

D8S2278 (e-PCR)
- UniSTS:473906

PMC156606P4 (e-PCR)
- UniSTS:271411

D8S2279 (e-PCR)
- UniSTS:473907

SHGC-57003 (e-PCR)
- UniSTS:41016

RH94342 (e-PCR)
- UniSTS:89197

D11S3114 (e-PCR)
- UniSTS:152207

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in negative regulation of cell growth	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of mitochondrial membrane permeability involved in apoptotic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
located_in mitochondrion	IEA Inferred from Electronic Annotation 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
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: nuclear apoptosis-inducing factor 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.