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Aliases for NBAS Gene

Aliases for NBAS Gene

  • Neuroblastoma Amplified Sequence 2 3 5
  • Neuroblastoma-Amplified Gene Protein 3 4
  • NAG 3 4
  • Neuroblastoma-Amplified Sequence 3
  • NAG/BC035112 Fusion 3
  • NAG/FAM49A Fusion 3
  • EC 1.1.1.94 61
  • EC 1.2.1.59 61
  • ILFS2 3
  • SOPH 3

External Ids for NBAS Gene

Summaries for NBAS Gene

Entrez Gene Summary for NBAS Gene

  • This gene encodes a protein with two leucine zipper domains, a ribosomal protein S14 signature domain and a Sec39 like domain. The protein is thought to be involved in Golgi-to-ER transport. Mutations in this gene are associated with short stature, optic nerve atrophy, and Pelger-Huet anomaly. [provided by RefSeq, Oct 2012]

GeneCards Summary for NBAS Gene

NBAS (Neuroblastoma Amplified Sequence) is a Protein Coding gene. Diseases associated with NBAS include Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly and Infantile Liver Failure Syndrome 2. Among its related pathways are Vesicle-mediated transport and Golgi-to-ER retrograde transport.

UniProtKB/Swiss-Prot for NBAS Gene

  • Involved in Golgi-to-endoplasmic reticulum (ER) retrograde tranport; the function is proposed to depend on its association in the NRZ complex which is believed to play a role in SNARE assembly at the ER (PubMed:19369418).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NBAS Gene

Genomics for NBAS Gene

Regulatory Elements for NBAS Gene

Enhancers for NBAS Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F015594 0.6 FANTOM5 30.3 -32.9 -32874 0.1 NBAS DDX1 MYCN ENSG00000224194
GH02F015558 1.5 FANTOM5 ENCODE 22.9 +0.5 486 4.3 PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 KLF13 ZNF263 NBAS DDX1 GC02P015496
GH02F015888 1.1 FANTOM5 Ensembl ENCODE 22.9 -328.6 -328623 3.9 SOX13 HLF ZMYM3 CEBPB CEBPG KLF4 RAD21 SMARCA4 POLR2A EED NBAS DDX1 MYCN GC02P015895 GC02P015869
GH02F015643 0.6 FANTOM5 21 -82.7 -82712 0.4 DDX1 NBAS MYCN ENSG00000224194
GH02F015430 0.5 FANTOM5 20.6 +130.6 130600 0.5 CTCF ZNF316 NBAS DDX1 RPS26P18 GC02P015475
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around NBAS on UCSC Golden Path with GeneCards custom track

Promoters for NBAS Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000299670 348 2801 PKNOX1 CREB3L1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 KLF13

Genomic Location for NBAS Gene

Chromosome:
2
Start:
15,166,908 bp from pter
End:
15,561,348 bp from pter
Size:
394,441 bases
Orientation:
Minus strand

Genomic View for NBAS Gene

Genes around NBAS on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for NBAS Gene

Proteins for NBAS Gene

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

    Protein Symbol:
    A2RRP1-NBAS_HUMAN
    Recommended name:
    Neuroblastoma-amplified sequence
    Protein Accession:
    A2RRP1
    Secondary Accessions:
    • O95790
    • Q2VPJ7
    • Q53TK6
    • Q86V39
    • Q8NFY8
    • Q9Y3W5

    Protein attributes for NBAS Gene

    Size:
    2371 amino acids
    Molecular mass:
    268571 Da
    Quaternary structure:
    • Component of the NRZ complex composed of NBAS, ZW10 and RINT1/TIP20L; NRZ associates with SNAREs STX18, USE1L, BNIP1/SEC20L and SEC22B (the assembly has been described as syntaxin 18 complex); links NRZ to SNARE USE1L (PubMed:19369418).
    SequenceCaution:
    • Sequence=AAD18133.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAD18133.1; Type=Erroneous termination; Positions=2372; Note=Translated as stop.; Evidence={ECO:0000305}; Sequence=CAB43382.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for NBAS Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NBAS Gene

Selected DME Specific Peptides for NBAS Gene

Post-translational modifications for NBAS Gene

  • Ubiquitination at Lys 265, Lys 284, Lys 673, Lys 799, Lys 1246, Lys 1452, and Lys 1667
  • Modification sites at PhosphoSitePlus

Domains & Families for NBAS Gene

Protein Domains for NBAS Gene

Suggested Antigen Peptide Sequences for NBAS Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

A2RRP1

UniProtKB/Swiss-Prot:

NBAS_HUMAN :
  • Contains 2 WD repeats.
Similarity:
  • Contains 2 WD repeats.
genes like me logo Genes that share domains with NBAS: view

No data available for Gene Families for NBAS Gene

Function for NBAS Gene

Molecular function for NBAS Gene

UniProtKB/Swiss-Prot Function:
Involved in Golgi-to-endoplasmic reticulum (ER) retrograde tranport; the function is proposed to depend on its association in the NRZ complex which is believed to play a role in SNARE assembly at the ER (PubMed:19369418).

Enzyme Numbers (IUBMB) for NBAS Gene

Gene Ontology (GO) - Molecular Function for NBAS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000149 SNARE binding IDA 19369418
genes like me logo Genes that share ontologies with NBAS: view

Phenotypes for NBAS Gene

genes like me logo Genes that share phenotypes with NBAS: view

Human Phenotype Ontology for NBAS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for NBAS Gene

miRTarBase miRNAs that target NBAS

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for NBAS Gene

Localization for NBAS Gene

Subcellular locations from UniProtKB/Swiss-Prot for NBAS Gene

Cytoplasm. Endoplasmic reticulum. Endoplasmic reticulum membrane; Peripheral membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NBAS Gene COMPARTMENTS Subcellular localization image for NBAS gene
Compartment Confidence
endoplasmic reticulum 5
cytosol 3
nucleus 3
golgi apparatus 2

Gene Ontology (GO) - Cellular Components for NBAS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum IEA,IDA 19369418
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005829 cytosol TAS --
GO:0016020 membrane IEA,IDA 19946888
genes like me logo Genes that share ontologies with NBAS: view

Pathways & Interactions for NBAS Gene

genes like me logo Genes that share pathways with NBAS: view

Interacting Proteins for NBAS Gene

Gene Ontology (GO) - Biological Process for NBAS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000956 nuclear-transcribed mRNA catabolic process IMP 23828042
GO:0006810 transport IEA --
GO:0006890 retrograde vesicle-mediated transport, Golgi to ER IEA,TAS --
GO:0015031 protein transport IEA --
GO:2000623 negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay IMP 23828042
genes like me logo Genes that share ontologies with NBAS: view

No data available for SIGNOR curated interactions for NBAS Gene

Transcripts for NBAS Gene

Unigene Clusters for NBAS Gene

Neuroblastoma amplified sequence:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^
SP1: - -
SP2:
SP3:
SP4:
SP5:

ExUns: 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31a · 31b ^ 32
SP1: -
SP2: -
SP3: - -
SP4: - -
SP5:

Relevant External Links for NBAS Gene

GeneLoc Exon Structure for
NBAS
ECgene alternative splicing isoforms for
NBAS

Expression for NBAS Gene

mRNA expression in normal human tissues for NBAS Gene

Protein differential expression in normal tissues from HIPED for NBAS Gene

This gene is overexpressed in Peripheral blood mononuclear cells (14.2) and Pancreatic juice (14.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NBAS Gene



Protein tissue co-expression partners for NBAS Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NBAS Gene:

NBAS

SOURCE GeneReport for Unigene cluster for NBAS Gene:

Hs.467759

mRNA Expression by UniProt/SwissProt for NBAS Gene:

A2RRP1-NBAS_HUMAN
Tissue specificity: Broadly expressed, with highest levels in heart and skeletal muscle, and lowest levels in liver, small intestine and thymus. Well expressed in retinal ganglion cells, epidermal skin cells, and leukocytes. Up-regulated together with N-myc in some neuroblastoma cell lines.
genes like me logo Genes that share expression patterns with NBAS: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for NBAS Gene

Orthologs for NBAS Gene

This gene was present in the common ancestor of animals.

Orthologs for NBAS Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NBAS 34 35
  • 99.44 (n)
dog
(Canis familiaris)
Mammalia NBAS 34 35
  • 89.38 (n)
cow
(Bos Taurus)
Mammalia NBAS 34 35
  • 87.79 (n)
mouse
(Mus musculus)
Mammalia Nbas 34 16 35
  • 84.56 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 82 (a)
OneToMany
-- 35
  • 64 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia NBAS 35
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves NBAS 34 35
  • 73.75 (n)
lizard
(Anolis carolinensis)
Reptilia NBAS 35
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nbas 34
  • 68.64 (n)
zebrafish
(Danio rerio)
Actinopterygii nbas 34 35
  • 63.5 (n)
worm
(Caenorhabditis elegans)
Secernentea smgl-1 35
  • 20 (a)
OneToOne
Species where no ortholog for NBAS 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)
  • rat (Rattus norvegicus)
  • 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)
  • wheat (Triticum aestivum)

Evolution for NBAS Gene

ENSEMBL:
Gene Tree for NBAS (if available)
TreeFam:
Gene Tree for NBAS (if available)

Paralogs for NBAS Gene

(1) SIMAP similar genes for NBAS Gene using alignment to 10 proteins:

Pseudogenes.org Pseudogenes for NBAS Gene

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

No data available for Paralogs for NBAS Gene

Variants for NBAS Gene

Sequence variations from dbSNP and Humsavar for NBAS Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs140841721 Infantile liver failure syndrome 2 (ILFS2) [MIM:616483] 15,402,288(+) GAATA(A/C)TTTTT nc-transcript-variant, reference, missense
rs368196005 Infantile liver failure syndrome 2 (ILFS2) [MIM:616483], Pathogenic 15,417,582(+) CTTTC(A/C)GGGTT nc-transcript-variant, reference, missense
rs369698072 Short stature, optic nerve atrophy, and Pelger-Huet anomaly (SOPH) [MIM:614800], Pathogenic 15,238,670(+) CTTTA(A/C/T)GGGCT nc-transcript-variant, reference, missense
rs796052121 Infantile liver failure syndrome 2 (ILFS2) [MIM:616483], Pathogenic 15,394,320(-) TGGAC(C/T)CGAGA nc-transcript-variant, reference, missense
VAR_074647 Infantile liver failure syndrome 2 (ILFS2) [MIM:616483]

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

Variant ID Type Subtype PubMed ID
dgv612n67 CNV gain 20364138
dgv613n67 CNV gain 20364138
esv1243706 CNV insertion 17803354
esv1330669 CNV insertion 17803354
esv2617488 CNV insertion 19546169
esv2719726 CNV deletion 23290073
esv2759029 CNV loss 17122850
esv2762245 CNV loss 21179565
esv3583652 CNV loss 25503493
esv3589906 CNV loss 21293372
esv3589910 CNV loss 21293372
esv3891581 CNV loss 25118596
esv6386 CNV gain 19470904
nsv1003654 CNV loss 25217958
nsv1010896 CNV loss 25217958
nsv1110932 OTHER inversion 24896259
nsv472604 CNV novel sequence insertion 20440878
nsv475182 CNV novel sequence insertion 20440878
nsv477856 CNV novel sequence insertion 20440878
nsv515567 CNV gain+loss 19592680
nsv819028 CNV gain 19587683
nsv961384 CNV duplication 23825009
nsv998383 CNV loss 25217958

Variation tolerance for NBAS Gene

Residual Variation Intolerance Score: 30% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.70; 89.28% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NBAS Gene

Human Gene Mutation Database (HGMD)
NBAS
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NBAS

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

Disorders for NBAS Gene

MalaCards: The human disease database

(11) MalaCards diseases for NBAS Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
short stature, optic nerve atrophy, and pelger-huet anomaly
  • soph syndrome
infantile liver failure syndrome 2
  • ilfs2
pelger-huet anomaly
  • ovoid neutrophil nuclei, developmental delay, epilepsy and skeletal abnormalities
neuroblastoma
  • neuroblastoma 1
acute liver failure
  • acute hepatic failure
- elite association - COSMIC cancer census association via MalaCards
Search NBAS in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NBAS_HUMAN
  • Infantile liver failure syndrome 2 (ILFS2) [MIM:616483]: A form of infantile liver failure syndrome, a life-threatening disorder of hepatic function that manifests with acute liver failure in the first few months of life. Clinical features include anemia, renal tubulopathy, developmental delay, seizures, failure to thrive, and liver steatosis and fibrosis. {ECO:0000269 PubMed:26073778}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=NBAS mutations have been found in a multisystem disease affecting the liver, eye, immune system, connective tissue, and bone. Clinical manifestations include a progeroid appearance, short stature, slender bones, epiphyseal dysplasia with multiple phalangeal pseudo-epiphyses, cervical instability, myelopathy, elevated transaminases, hypogammaglobulinemia, reduced natural killer cells, Pelger-Huet anomaly of granulocytes, and in some cases retinal dystrophy and optic atrophy. {ECO:0000269 PubMed:26286438}.
  • Short stature, optic nerve atrophy, and Pelger-Huet anomaly (SOPH) [MIM:614800]: An autosomal recessive syndrome characterized by severe postnatal growth retardation, facial dysmorphism with senile face, small hands and feet, normal intelligence, abnormal nuclear shape in neutrophil granulocytes (Pelger-Huet anomaly), and optic atrophy with loss of visual acuity and color vision. {ECO:0000269 PubMed:20577004}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for NBAS

Genetic Association Database (GAD)
NBAS
Human Genome Epidemiology (HuGE) Navigator
NBAS
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NBAS
genes like me logo Genes that share disorders with NBAS: view

No data available for Genatlas for NBAS Gene

Publications for NBAS Gene

  1. Structural analysis of the RZZ complex reveals common ancestry with multisubunit vesicle tethering machinery. (PMID: 20462495) Civril F. … Musacchio A. (Structure 2010) 3 4 22 64
  2. The neuroblastoma amplified gene, NAG: genomic structure and characterisation of the 7.3 kb transcript predominantly expressed in neuroblastoma. (PMID: 12706883) Scott D.K. … Lunec J. (Gene 2003) 2 3 4 64
  3. Co-amplification of a novel gene, NAG, with the N-myc gene in neuroblastoma. (PMID: 9926938) Wimmer K. … Hanash S.M. (Oncogene 1999) 2 3 4 64
  4. NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina. (PMID: 26286438) Garcia Segarra N. … Bonafe L. (Am. J. Med. Genet. A 2015) 3 4 64
  5. Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy. (PMID: 26073778) Haack T.B. … Prokisch H. (Am. J. Hum. Genet. 2015) 3 4 64

Products for NBAS Gene

Sources for NBAS Gene

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