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NBAS neuroblastoma amplified sequence [ Homo sapiens (human) ]

Gene ID: 51594, updated on 5-Aug-2018
Official Symbol
NBASprovided by HGNC
Official Full Name
neuroblastoma amplified sequenceprovided by HGNC
Primary source
HGNC:HGNC:15625
See related
Ensembl:ENSG00000151779 MIM:608025; Vega:OTTHUMG00000121153
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
NAG; SOPH; ILFS2
Summary
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]
Expression
Ubiquitous expression in testis (RPKM 10.3), thyroid (RPKM 7.5) and 25 other tissues See more
Orthologs
See NBAS in Genome Data Viewer
Location:
2p24.3
Exon count:
55
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (14998067..15561348, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (15307032..15701472, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 276 Neighboring gene RNA, U6 small nuclear 1288, pseudogene Neighboring gene family with sequence similarity 84 member A Neighboring gene ribosomal protein S26 pseudogene 18 Neighboring gene uncharacterized LOC105373440 Neighboring gene DEAD-box helicase 1

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Infantile liver failure syndrome 2
MedGen: C3809651 OMIM: 616483 GeneReviews: Not available
Compare labs
Short stature, optic nerve atrophy, and Pelger-Huet anomaly
MedGen: C3541319 OMIM: 614800 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study of conduct disorder symptomatology.
NHGRI GWA Catalog
Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations
NHGRI GWA Catalog
  • COPI-dependent Golgi-to-ER retrograde traffic, organism-specific biosystem (from REACTOME)
    COPI-dependent Golgi-to-ER retrograde traffic, organism-specific biosystemRetrograde traffic from the cis-Golgi to the ERGIC or the ER is mediated in part by microtubule-directed COPI-coated vesicles (Letourneur et al, 1994; Shima et al, 1999; Spang et al, 1998; reviewed i...
  • Golgi-to-ER retrograde transport, organism-specific biosystem (from REACTOME)
    Golgi-to-ER retrograde transport, organism-specific biosystemRetrograde traffic from the cis-Golgi to the ERGIC or the ER occurs through either COPI-coated vesicles or through a less well characterized RAB6-dependent route that makes use of tubular carriers (r...
  • Intra-Golgi and retrograde Golgi-to-ER traffic, organism-specific biosystem (from REACTOME)
    Intra-Golgi and retrograde Golgi-to-ER traffic, organism-specific biosystemThe mammalian Golgi complex, a central hub of both anterograde and retrograde trafficking, is a ribbon of stacked cisterna with biochemically distinct compartments (reviewed in Glick and Nakano, 2009...
  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ40407, FLJ45050, DKFZp586G1219

Gene Ontology Provided by GOA

Function Evidence Code Pubs
SNARE binding IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
Dsl1/NZR complex IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
membrane HDA PubMed 
Preferred Names
neuroblastoma-amplified sequence
Names
NAG/BC035112 fusion
NAG/FAM49A fusion
neuroblastoma-amplified gene protein

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

  1. NG_032964.1 RefSeqGene

    Range
    5001..399441
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_015909.3NP_056993.2  neuroblastoma-amplified sequence

    See identical proteins and their annotated locations for NP_056993.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and is protein-coding.
    Source sequence(s)
    AB621813, AF388385, AL832774, AL833270, BC108693, BC131735
    Consensus CDS
    CCDS1685.1
    UniProtKB/Swiss-Prot
    A2RRP1
    UniProtKB/TrEMBL
    G1UI26
    Related
    ENSP00000281513.5, OTTHUMP00000149964, ENST00000281513.9, OTTHUMT00000241638
    Conserved Domains (2) summary
    pfam08314
    Location:7261370
    Sec39; Secretory pathway protein Sec39
    pfam15492
    Location:90371
    Nbas_N; Neuroblastoma-amplified sequence, N terminal

RNA

  1. NR_052013.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an internal exon in the 3' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AB621813, AL832774, AL833270, BC131735, BQ878688

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    14998067..15561348 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017004317.1XP_016859806.1  neuroblastoma-amplified sequence isoform X3

  2. XM_011510357.2XP_011508659.1  neuroblastoma-amplified sequence isoform X2

    Conserved Domains (2) summary
    pfam08314
    Location:6831327
    Sec39; Secretory pathway protein Sec39
    pfam15492
    Location:90328
    Nbas_N; Neuroblastoma-amplified sequence, N terminal
  3. XM_011510358.2XP_011508660.1  neuroblastoma-amplified sequence isoform X1

    Conserved Domains (2) summary
    pfam08314
    Location:7261370
    Sec39; Secretory pathway protein Sec39
    pfam15492
    Location:90371
    Nbas_N; Neuroblastoma-amplified sequence, N terminal
  4. XM_024452961.1XP_024308729.1  neuroblastoma-amplified sequence isoform X4

    Conserved Domains (2) summary
    pfam08314
    Location:5131157
    Sec39; Secretory pathway protein Sec39
    pfam15492
    Location:3158
    Nbas_N; Neuroblastoma-amplified sequence, N terminal
  5. XM_011510361.2XP_011508663.1  neuroblastoma-amplified sequence isoform X6

    Related
    ENSP00000398411.1, OTTHUMP00000200428, ENST00000442506.5, OTTHUMT00000323649
    Conserved Domains (1) summary
    pfam08314
    Location:162634
    Sec39; Secretory pathway protein Sec39
  6. XM_011510360.2XP_011508662.1  neuroblastoma-amplified sequence isoform X5

    Conserved Domains (1) summary
    pfam08314
    Location:165637
    Sec39; Secretory pathway protein Sec39
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