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NBAS NBAS subunit of NRZ tethering complex [ Homo sapiens (human) ]

Gene ID: 51594, updated on 1-Mar-2024

Summary

Official Symbol
NBASprovided by HGNC
Official Full Name
NBAS subunit of NRZ tethering complexprovided by HGNC
Primary source
HGNC:HGNC:15625
See related
Ensembl:ENSG00000151779 MIM:608025; AllianceGenome:HGNC:15625
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
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Genomic context

See NBAS in Genome Data Viewer
Location:
2p24.3
Exon count:
58
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (14778909..15561334, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (14809697..15592931, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (15307040..15701458, 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 ReSE screen-validated silencer GRCh37_chr2:14472914-14473113 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:14541927-14542484 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:14654042-14654593 Neighboring gene LRAT domain containing 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:14988479-14989049 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11184 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:15100270-15101469 Neighboring gene H3K4me1 hESC enhancers GRCh37_chr2:15182798-15183298 and GRCh37_chr2:15183299-15183799 Neighboring gene Sharpr-MPRA regulatory region 966 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:15213063-15213219 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:15224708-15225393 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:15225394-15226078 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:15281925-15283124 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:15315340-15315550 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:15399317-15400143 Neighboring gene NANOG hESC enhancer GRCh37_chr2:15589330-15589831 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:15606309-15606502 Neighboring gene ribosomal protein S26 pseudogene 18 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:15672530-15672745 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15346 Neighboring gene uncharacterized LOC105373440 Neighboring gene uncharacterized LOC124905975

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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What'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 atrophy-Pelger-HuC+t anomaly syndrome
MedGen: C3541319 OMIM: 614800 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Genome-wide association study of conduct disorder symptomatology.
EBI GWAS Catalog
Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ40407, FLJ45050, DKFZp586G1219

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables SNARE binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables SNARE binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
part_of Dsl1/NZR complex IBA
Inferred from Biological aspect of Ancestor
more info
 
part_of Dsl1/NZR complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of Dsl1/NZR complex IPI
Inferred from Physical Interaction
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
located_in membrane HDA PubMed 

General protein information

Preferred Names
NBAS subunit of NRZ tethering complex
Names
NAG/BC035112 fusion
NAG/FAM49A fusion
neuroblastoma amplified sequence
neuroblastoma-amplified gene protein

NCBI Reference Sequences (RefSeq)

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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_032964.2 RefSeqGene

    Range
    5000..399418
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_015909.4NP_056993.2  NBAS subunit of NRZ tethering complex

    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, BC108693, BC131735
    Consensus CDS
    CCDS1685.1
    UniProtKB/Swiss-Prot
    A2RRP1, O95790, Q2VPJ7, Q53TK6, Q86V39, Q8NFY8, Q9Y3W5
    Related
    ENSP00000281513.5, ENST00000281513.10
    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_052013.3 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, BC131735, BQ878688

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    14778909..15561334 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017004317.2XP_016859806.1  NBAS subunit of NRZ tethering complex isoform X3

  2. XM_047444733.1XP_047300689.1  NBAS subunit of NRZ tethering complex isoform X3

  3. XM_047444734.1XP_047300690.1  NBAS subunit of NRZ tethering complex isoform X4

  4. XM_011510357.3XP_011508659.1  NBAS subunit of NRZ tethering complex isoform X1

    Conserved Domains (2) summary
    pfam08314
    Location:6831327
    Sec39; Secretory pathway protein Sec39
    pfam15492
    Location:90328
    Nbas_N; Neuroblastoma-amplified sequence, N terminal
  5. XM_011510358.3XP_011508660.1  NBAS subunit of NRZ tethering complex isoform X2

    Conserved Domains (2) summary
    pfam08314
    Location:7261370
    Sec39; Secretory pathway protein Sec39
    pfam15492
    Location:90371
    Nbas_N; Neuroblastoma-amplified sequence, N terminal
  6. XM_047444735.1XP_047300691.1  NBAS subunit of NRZ tethering complex isoform X5

  7. XM_011510361.3XP_011508663.1  NBAS subunit of NRZ tethering complex isoform X7

    UniProtKB/TrEMBL
    A0A8V8TPS6
    Related
    ENSP00000398411.1, ENST00000442506.5
    Conserved Domains (1) summary
    pfam08314
    Location:162634
    Sec39; Secretory pathway protein Sec39
  8. XM_011510360.3XP_011508662.1  NBAS subunit of NRZ tethering complex isoform X6

    UniProtKB/TrEMBL
    A0A8V8TPS6
    Conserved Domains (1) summary
    pfam08314
    Location:165637
    Sec39; Secretory pathway protein Sec39

RNA

  1. XR_007076390.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    14809697..15592931 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054342528.1XP_054198503.1  NBAS subunit of NRZ tethering complex isoform X3

  2. XM_054342527.1XP_054198502.1  NBAS subunit of NRZ tethering complex isoform X3

  3. XM_054342529.1XP_054198504.1  NBAS subunit of NRZ tethering complex isoform X4

  4. XM_054342525.1XP_054198500.1  NBAS subunit of NRZ tethering complex isoform X1

  5. XM_054342526.1XP_054198501.1  NBAS subunit of NRZ tethering complex isoform X2

  6. XM_054342530.1XP_054198505.1  NBAS subunit of NRZ tethering complex isoform X5

  7. XM_054342532.1XP_054198507.1  NBAS subunit of NRZ tethering complex isoform X7

    UniProtKB/TrEMBL
    A0A8V8TPS6
  8. XM_054342531.1XP_054198506.1  NBAS subunit of NRZ tethering complex isoform X6

    UniProtKB/TrEMBL
    A0A8V8TPS6

RNA

  1. XR_008486394.1 RNA Sequence