NIBAN1 niban apoptosis regulator 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NIBAN1provided by HGNC
Official Full Name: niban apoptosis regulator 1provided by HGNC
Primary source: HGNC:HGNC:16784
See related: Ensembl:ENSG00000135842 MIM:619294; AllianceGenome:HGNC:16784
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: GIG39; NIBAN; C1orf24; FAM129A
Summary: This gene encodes a member of the family with sequence similarity 129 protein family. This gene is highly expressed in several cancer cells and may serve as a prognostic marker for certain cancers. The encoded protein may play a role in regulating p53-mediated apoptosis. [provided by RefSeq, Sep 2016]
Expression: Broad expression in heart (RPKM 58.9), esophagus (RPKM 34.2) and 18 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q25.3

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (184791032..184974508, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (184154228..184331389, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (184760166..184943640, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

FAM129A promotes self-renewal and maintains invasive status via stabilizing the Notch intracellular domain in glioma stem cells.
Title: FAM129A promotes self-renewal and maintains invasive status via stabilizing the Notch intracellular domain in glioma stem cells.
The negative feedback loop FAM129A/CXCL14 aggravates the progression of esophageal cancer.
Title: The negative feedback loop FAM129A/CXCL14 aggravates the progression of esophageal cancer.
MiR-4521 plays a tumor repressive role in growth and metastasis of hepatocarcinoma cells by suppressing phosphorylation of FAK/AKT pathway via targeting FAM129A.
Title: MiR-4521 plays a tumor repressive role in growth and metastasis of hepatocarcinoma cells by suppressing phosphorylation of FAK/AKT pathway via targeting FAM129A.
MRNA and protein expression of FAM129A were negatively regulated by miR-135a.
Title: miR-135a deficiency inhibits the AR42J cells damage in cerulein-induced acute pancreatitis through targeting FAM129A.
Our data suggest that, in normal thyroid cells, FAM129A induces autophagy in order to maintain cell homeostasis and provide substrates under starvation conditions. Instead, in thyroid cancer cells, decreased autophagy may help the cells to overcome cell death. FAM129A regulates autophagy in a cell- and/or context-dependent manner.
Title: FAM129A regulates autophagy in thyroid carcinomas in an oncogene-dependent manner.
One of the canonical Unfolded protein response branches, through ATF4 and its target gene FAM129A, is required for Prostate cancer growth and thus may serve as a novel therapeutic target.
Title: Regulation of the unfolded protein response through ATF4 and FAM129A in prostate cancer.
Silencing of Niban in HK-2 cells not only increased the AngII- and endoplasmic reticulum stress-induced apoptosis, but also promoted the expression of caspase 8, caspase 9, Bip, and Chop, suggesting that Niban protein is involved in apoptosis regulation in HK-2 cells, and most likely via caspase-dependent pathway.
Title: Niban protein regulates apoptosis in HK-2 cells via caspase-dependent pathway.
We have shown that FAM129A is associated with variation in clinical asthma steroid responsiveness and that FAM129A modulates steroid responsiveness in lung epithelial cells.
Title: Systems biology and in vitro validation identifies family with sequence similarity 129 member A (FAM129A) as an asthma steroid response modulator.
results suggest a conditional regulation of KRT16 gene by ATF4 that may be inhibited in normal cells, but engaged during cancer progression. Potential roles of KRT16, FAM129A and HKDC1 genes upregulation in adaptive stress responses and pathologies are discussed
Title: Implication of KRT16, FAM129A and HKDC1 genes as ATF4 regulated components of the integrated stress response.
Data suggest that decreasing C1orf24 protein levels by restoring microRNA miR-106b function may have therapeutic implications.
Title: microRNA-106b-mediated down-regulation of C1orf24 expression induces apoptosis and suppresses invasion of thyroid cancer.

Submit: New GeneRIF Correction See all GeneRIFs (15)

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

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. 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

SHGC-24127 (e-PCR)
- UniSTS:13334

SHGC-56415 (e-PCR)
- UniSTS:94492

D1S3635 (e-PCR)
- UniSTS:473948

AL034118 (e-PCR)
- UniSTS:93889

D1S2525 (e-PCR)
- UniSTS:37589

AL009385 (e-PCR)
- UniSTS:69334

SHGC-76048 (e-PCR)
- UniSTS:15577

GDB:631813 (e-PCR)
- UniSTS:158430

RH46175 (e-PCR)
- UniSTS:80114

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 protein phosphorylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of protein phosphorylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of translation	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to endoplasmic reticulum stress	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in extracellular exosome	HDA more info	PubMed
located_in membrane	HDA more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: protein Niban 1

Names: cell growth-inhibiting gene 39 protein; family with sequence similarity 129 member A

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.