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NBAS neuroblastoma amplified sequence [ Homo sapiens (human) ]

Gene ID: 51594, updated on 8-Feb-2015
Official Symbol
NBASprovided by HGNC
Official Full Name
neuroblastoma amplified sequenceprovided by HGNC
Primary source
HGNC:HGNC:15625
See related
Ensembl:ENSG00000151779; HPRD:10473; 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
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]
Orthologs
See NBAS in MapViewer
Location:
2p24
Exon count:
52
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 2 NC_000002.12 (15166908..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 family with sequence similarity 84, member A Neighboring gene uncharacterized LOC101926952 Neighboring gene ribosomal protein S26 pseudogene 18 Neighboring gene uncharacterized LOC101926966 Neighboring gene DEAD (Asp-Glu-Ala-Asp) box helicase 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Short stature, optic nerve atrophy, and pelger-huet anomaly
MedGen: CN143710 OMIM: 614800 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study of conduct disorder symptomatology.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ40407, FLJ45050, DKFZp586G1219

Gene Ontology Provided by GOA

Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
nuclear membrane IDA
Inferred from Direct Assay
more info
 
nucleolus IDA
Inferred from Direct Assay
more info
 
Preferred Names
neuroblastoma-amplified sequence
Names
neuroblastoma-amplified sequence
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 proteins identical to 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, OTTHUMP00000149964, ENST00000281513, OTTHUMT00000241638
    Conserved Domains (2) summary
    pfam08314
    Location:7251368
    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 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38 Primary Assembly

    Range
    15166908..15561348
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018913.2 Alternate CHM1_1.1

    Range
    15236546..15631326
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000134.1 Alternate HuRef

    Range
    15157911..15552718
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)