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    NBAS neuroblastoma amplified sequence [ Homo sapiens (human) ]

    Gene ID: 51594, updated on 5-Aug-2018

    Summary

    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

    Genomic context

    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

    Genomic regions, transcripts, and products

    Expression

    • 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

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    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

    Pathways from BioSystems

    • 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...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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 

    General protein information

    Preferred Names
    neuroblastoma-amplified sequence
    Names
    NAG/BC035112 fusion
    NAG/FAM49A fusion
    neuroblastoma-amplified gene protein

    NCBI Reference Sequences (RefSeq)

    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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