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] See more...

Aliases for NIBAN1 Gene

Aliases for NIBAN1 Gene

  • Niban Apoptosis Regulator 1 2 3 5
  • Family With Sequence Similarity 129 Member A 2 3
  • Cell Growth-Inhibiting Gene 39 Protein 3 4
  • Protein Niban 1 3 4
  • C1orf24 3 4
  • FAM129A 3 4
  • NIBAN 3 4
  • Chromosome 1 Open Reading Frame 24 2
  • Cell Growth Inhibiting Protein 39 2
  • Protein FAM129A 4
  • Protein Niban 3
  • GIG39 3

External Ids for NIBAN1 Gene

Previous HGNC Symbols for NIBAN1 Gene

  • C1orf24
  • FAM129A

Summaries for NIBAN1 Gene

Entrez Gene Summary for NIBAN1 Gene

  • 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]

GeneCards Summary for NIBAN1 Gene

NIBAN1 (Niban Apoptosis Regulator 1) is a Protein Coding gene. Diseases associated with NIBAN1 include Childhood Central Nervous System Primitive Neuroectodermal Neoplasm and Thyroid Tumor. An important paralog of this gene is NIBAN2.

UniProtKB/Swiss-Prot Summary for NIBAN1 Gene

  • Regulates phosphorylation of a number of proteins involved in translation regulation including EIF2A, EIF4EBP1 and RPS6KB1. May be involved in the endoplasmic reticulum stress response (By similarity).

Gene Wiki entry for NIBAN1 Gene

Additional gene information for NIBAN1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NIBAN1 Gene

Genomics for NIBAN1 Gene

GeneHancer (GH) Regulatory Elements for NIBAN1 Gene

Promoters and enhancers for NIBAN1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J184970 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 512.2 +1.8 1831 5.5 HNRNPK SIN3A NCOR1 GTF2E2 CTCF ZNF639 ZNF10 EP300 REST ZBTB10 NIBAN1 LOC100422414 EDEM3 lnc-EDEM3-5
GH01J184866 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 35.4 +108.8 108837 5.4 ZBTB40 SP1 JUND FOS EP300 RELA MEF2C TSC22D4 TRIM22 ATF2 NIBAN1 IVNS1ABP SWT1 EDEM3 TRMT1L lnc-EDEM3-4 piR-52680-023
GH01J185418 Enhancer 1 FANTOM5 Ensembl ENCODE 29.1 -446.1 -446063 6 CTCF SPI1 FOXP2 REST TBX21 POLR2A CEBPB MTA2 IKZF1 IKZF2 lnc-IVNS1ABP-5 lnc-SWT1-6 IVNS1ABP NIBAN1 SWT1 TRMT1L RNF2 HSALNG0009061 RF00066-019 RNU7-183P
GH01J185043 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 10.3 -70.6 -70579 4.2 HNRNPK EP300 SIN3A NRF1 MYC POLR2G NCOR1 PHF8 TEAD4 ZFX RNF2 SWT1 NIBAN1 TRMT1L FTH1P25 lnc-TRMT1L-3
GH01J184805 Enhancer 1.3 Ensembl ENCODE dbSUPER 16.9 +168.6 168637 2.2 ZNF217 CTCF ZNF10 AFF1 REST NR3C1 TOE1 CHD1 RAD21 CTBP1 NIBAN1 SWT1 TRMT1L EDEM3 RF00066-018 RNU7-13P piR-46847-023
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NIBAN1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NIBAN1

Genomic Locations for NIBAN1 Gene

Genomic Locations for NIBAN1 Gene
chr1:184,790,724-184,975,138
(GRCh38/hg38)
Size:
184,415 bases
Orientation:
Minus strand
chr1:184,759,858-184,943,682
(GRCh37/hg19)
Size:
183,825 bases
Orientation:
Minus strand

Genomic View for NIBAN1 Gene

Genes around NIBAN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NIBAN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NIBAN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NIBAN1 Gene

Proteins for NIBAN1 Gene

  • Protein details for NIBAN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BZQ8-NIBA1_HUMAN
    Recommended name:
    Protein Niban 1
    Protein Accession:
    Q9BZQ8
    Secondary Accessions:
    • Q2TTR2
    • Q5TEM8
    • Q8TEI5
    • Q9H593
    • Q9H9Y8
    • Q9HCB9

    Protein attributes for NIBAN1 Gene

    Size:
    928 amino acids
    Molecular mass:
    103135 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • 'Niban' means 'second' in Japanese.
    SequenceCaution:
    • Sequence=BAB17230.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

neXtProt entry for NIBAN1 Gene

Post-translational modifications for NIBAN1 Gene

  • Ubiquitination at Lys482
  • Modification sites at PhosphoSitePlus

Other Protein References for NIBAN1 Gene

No data available for DME Specific Peptides for NIBAN1 Gene

Domains & Families for NIBAN1 Gene

Gene Families for NIBAN1 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins

Protein Domains for NIBAN1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NIBAN1 Gene

GenScript: Design optimal peptide antigens:
  • Protein FAM129A (NIBAN_HUMAN)
  • Family with sequence similarity 129, member A (Q5TEY9_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BZQ8

UniProtKB/Swiss-Prot:

NIBA1_HUMAN :
  • Belongs to the Niban family.
Family:
  • Belongs to the Niban family.
genes like me logo Genes that share domains with NIBAN1: view

Function for NIBAN1 Gene

Molecular function for NIBAN1 Gene

UniProtKB/Swiss-Prot Function:
Regulates phosphorylation of a number of proteins involved in translation regulation including EIF2A, EIF4EBP1 and RPS6KB1. May be involved in the endoplasmic reticulum stress response (By similarity).

Phenotypes From GWAS Catalog for NIBAN1 Gene

Gene Ontology (GO) - Molecular Function for NIBAN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 22510990
genes like me logo Genes that share ontologies with NIBAN1: view
genes like me logo Genes that share phenotypes with NIBAN1: view

Animal Models for NIBAN1 Gene

MGI Knock Outs for NIBAN1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NIBAN1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NIBAN1 Gene

Localization for NIBAN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NIBAN1 Gene

Cytoplasm. Membrane; Lipid-anchor.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NIBAN1 gene
Compartment Confidence
cytosol 5
plasma membrane 4
nucleus 2
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NIBAN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA,IEA 16949643
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane IDA --
GO:0016020 membrane HDA,IEA 19946888
GO:0070062 extracellular exosome HDA 19199708
genes like me logo Genes that share ontologies with NIBAN1: view

Pathways & Interactions for NIBAN1 Gene

PathCards logo

SuperPathways for NIBAN1 Gene

No Data Available

SIGNOR curated interactions for NIBAN1 Gene

Other effect:

Gene Ontology (GO) - Biological Process for NIBAN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001933 negative regulation of protein phosphorylation ISS --
GO:0001934 positive regulation of protein phosphorylation ISS --
GO:0006417 regulation of translation IEA --
GO:0034976 response to endoplasmic reticulum stress ISS --
GO:0045727 positive regulation of translation ISS --
genes like me logo Genes that share ontologies with NIBAN1: view

No data available for Pathways by source for NIBAN1 Gene

Drugs & Compounds for NIBAN1 Gene

No Compound Related Data Available

Transcripts for NIBAN1 Gene

mRNA/cDNA for NIBAN1 Gene

1 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NIBAN1

Alternative Splicing Database (ASD) splice patterns (SP) for NIBAN1 Gene

No ASD Table

Relevant External Links for NIBAN1 Gene

GeneLoc Exon Structure for
NIBAN1

Expression for NIBAN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NIBAN1

SOURCE GeneReport for Unigene cluster for NIBAN1 Gene:

Hs.518662

mRNA Expression by UniProt/SwissProt for NIBAN1 Gene:

Q9BZQ8-NIBA1_HUMAN
Tissue specificity: Expressed in various types of thyroid tumor such as papillary thyroid carcinomas and oxyphilic thyroid tumors but not in normal thyroid tissue (at protein level). Strongly expressed in heart, skeletal muscle, pancreas, white blood cells and prostate with moderate expression in colon and spleen. Expressed in renal carcinoma cells but not in normal kidney.

Evidence on tissue expression from TISSUES for NIBAN1 Gene

  • Blood(4.4)
  • Spleen(4.3)
  • Liver(4.1)
  • Heart(2.5)
  • Nervous system(2.5)
  • Thyroid gland(2.3)
genes like me logo Genes that share expression patterns with NIBAN1: view

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for NIBAN1 Gene

Orthologs for NIBAN1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NIBAN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM129A 31 30
  • 99.35 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FAM129A 31 30
  • 84.04 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FAM129A 31 30
  • 83.94 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fam129a 30
  • 80.21 (n)
mouse
(Mus musculus)
Mammalia Fam129a 17 31 30
  • 79.46 (n)
oppossum
(Monodelphis domestica)
Mammalia FAM129A 31
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FAM129A 31
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAM129A 31 30
  • 73.51 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAM129A 31
  • 54 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii LOC561414 30
  • 58.94 (n)
fam129ab 31
  • 39 (a)
OneToMany
fam129aa 31
  • 33 (a)
OneToMany
Species where no ortholog for NIBAN1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NIBAN1 Gene

ENSEMBL:
Gene Tree for NIBAN1 (if available)
TreeFam:
Gene Tree for NIBAN1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NIBAN1: view image

Paralogs for NIBAN1 Gene

Paralogs for NIBAN1 Gene

genes like me logo Genes that share paralogs with NIBAN1: view

Variants for NIBAN1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NIBAN1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
775630 Benign: not provided 184,884,723(-) A/G MISSENSE_VARIANT
780286 Benign: not provided 184,795,276(-) C/T MISSENSE_VARIANT
780287 Benign: not provided 184,884,676(-) C/T SYNONYMOUS_VARIANT
rs201876014 Uncertain Significance: not provided 184,795,563(-) G/A MISSENSE_VARIANT
rs12750174 - p.Ser633Leu

Additional dbSNP identifiers (rs#s) for NIBAN1 Gene

Structural Variations from Database of Genomic Variants (DGV) for NIBAN1 Gene

Variant ID Type Subtype PubMed ID
dgv232n106 CNV deletion 24896259
dgv6n6 CNV deletion 16902084
esv1001682 CNV deletion 20482838
esv1416043 CNV deletion 17803354
esv2244253 CNV deletion 18987734
esv2335294 CNV deletion 18987734
esv2521611 CNV deletion 19546169
esv2617140 CNV deletion 19546169
esv2720195 CNV deletion 23290073
esv2720206 CNV deletion 23290073
esv2720217 CNV deletion 23290073
esv2848791 CNV deletion 24192839
esv3384812 CNV insertion 20981092
esv3543589 CNV deletion 23714750
esv3543600 CNV deletion 23714750
esv3588129 CNV gain 21293372
esv3588130 CNV loss 21293372
esv3890815 CNV gain 25118596
esv4945 CNV loss 18987735
nsv1012048 CNV loss 25217958
nsv1068746 CNV deletion 25765185
nsv1068748 CNV deletion 25765185
nsv1133924 CNV deletion 24896259
nsv3832 CNV deletion 18451855
nsv3843 CNV deletion 18451855
nsv436157 CNV deletion 17901297
nsv498696 CNV loss 21111241
nsv508677 CNV deletion 20534489
nsv511721 CNV loss 21212237
nsv525731 CNV gain 19592680
nsv832048 CNV loss 17160897
nsv946539 CNV duplication 23825009
nsv958155 CNV deletion 24416366

Variation tolerance for NIBAN1 Gene

Residual Variation Intolerance Score: 80.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.49; 64.46% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NIBAN1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NIBAN1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NIBAN1 Gene

Disorders for NIBAN1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for NIBAN1 Gene - From: DISEASES and GeneCards

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for NIBAN1

genes like me logo Genes that share disorders with NIBAN1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NIBAN1 Gene

Publications for NIBAN1 Gene

  1. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 54
  2. A novel tumor marker, Niban, is expressed in subsets of thyroid tumors and Hashimoto's thyroiditis. (PMID: 16949643) Matsumoto F … Hino O (Human pathology 2006) 3 4 54
  3. [Pathogenesis of differentiated thyroid cancer (papillary and follicular)]. (PMID: 16444351) Maciel RM … Cerutti JM (Arquivos brasileiros de endocrinologia e metabologia 2005) 2 3 54
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54

Products for NIBAN1 Gene

Sources for NIBAN1 Gene