Seroatlas · Human Serome Atlas

NBAS

NBAS subunit of NRZ tethering complex

Also known as: NAG, NBAS_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
A2RRP1
Gene
NBAS
Ensembl
ENSG00000151779
Chromosome
2
Canonical length
2371 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location
Nuclear membrane,Nucleoli,Golgi apparatus

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

2371 residues, UniProt reviewed canonical sequence.

>A2RRP1|NBAS
     1  MAAPESGPAL SPGTAEGEEE TILYDLLVNT EWPPETEVQP RGNQKHGASF IITKAIRDRL
    61  LFLRQYIWYS PAPFLLPDGL VRLVNKQINW HLVLASNGKL LAAVQDQCVE IRSAKDDFTS
   121  IIGKCQVPKD PKPQWRRVAW SYDCTLLAYA ESTGTVRVFD LMGSELFVIS PASSFIGDLS
   181  YAIAGLIFLE YKASAQWSAE LLVINYRGEL RSYLVSVGTN QSYQESHCFS FSSHYPHGIN
   241  TAIYHPGHRL LLVGGCETAE VGMSKASSCG LSAWRVLSGS PYYKQVTNGG DGVTAVPKTL
   301  GLLRMLSVKF YSRQGQEQDG IFKMSLSPDG MLLAAIHFSG KLSIWAIPSL KQQGEWGQNE
   361  QPGYDDLNPD WRLSTEKRKK IKDKESFYPL IDVNWWADSA VTLARCSGAL TVSSVKTLKN
   421  LLGKSCEWFE PSPQVTATHD GGFLSLECEI KLAPKRSRLE TRAGEEDEGE EDSDSDYEIS
   481  AKARYFGYIK QGLYLVTEME RFAPPRKRPR TITKNYRLVS LRSTTPEELY QRKIESEEYE
   541  EALSLAHTYG LDTDLVYQRQ WRKSAVNVAS IQNYLSKIKK RSWVLHECLE RVPENVDAAK
   601  ELLQYGLKGT DLEALLAIGK GADDGRFTLP GEIDIDSISY EELSPPDEEP AKNKKEKELK
   661  KRQELLKLVN FSKLTLEQKE LCRCRRKLLT YLDRLATYEE ILGVPHASEQ RYDAEFFKKF
   721  RNQNIVLSAR TYAQESNVQA LEILFTYHGS DLLPHRLAIL SNFPETTSPH EYSVLLPEAC
   781  FNGDSLMIIP WHEHKHRAKD WCEELACRMV VEPNLQDESE FLYAAQPELL RFRMTQLTVE
   841  KVMDWYQTRA EEIEHYARQV DCALSLIRLG MERNIPGLLV LCDNLVTLET LVYEARCDVT
   901  LTLKELQQMK DIEKLRLLMN SCSEDKYVTS AYQWMVPFLH RCEKQSPGVA NELLKEYLVT
   961  LAKGDLKFPL KIFQHSKPDL QQKIIPDQDQ LMAIALECIY TCERNDQLCL CYDLLECLPE
  1021  RGYGDKTEAT TKLHDMVDQL EQILSVSELL EKHGLEKPIS FVKNTQSSSE EARKLMVRLT
  1081  RHTGRKQPPV SESHWRTLLQ DMLTMQQNVY TCLDSDACYE IFTESLLCSS RLENIHLAGQ
  1141  MMHCSACSEN PPAGIAHKGK PHYRVSYEKS IDLVLAASRE YFNSSTNLTD SCMDLARCCL
  1201  QLITDRPPAI QEELDLIQAV GCLEEFGVKI LPLQVRLCPD RISLIKECIS QSPTCYKQST
  1261  KLLGLAELLR VAGENPEERR GQVLILLVEQ ALRFHDYKAA SMHCQELMAT GYPKSWDVCS
  1321  QLGQSEGYQD LATRQELMAF ALTHCPPSSI ELLLAASSSL QTEILYQRVN FQIHHEGGEN
  1381  ISASPLTSKA VQEDEVGVPG SNSADLLRWT TATTMKVLSN TTTTTKAVLQ AVSDGQWWKK
  1441  SLTYLRPLQG QKCGGAYQIG TTANEDLEKQ GCHPFYESVI SNPFVAESEG TYDTYQHVPV
  1501  ESFAEVLLRT GKLAEAKNKG EVFPTTEVLL QLASEALPND MTLALAYLLA LPQVLDANRC
  1561  FEKQSPSALS LQLAAYYYSL QIYARLAPCF RDKCHPLYRA DPKELIKMVT RHVTRHEHEA
  1621  WPEDLISLTK QLHCYNERLL DFTQAQILQG LRKGVDVQRF TADDQYKRET ILGLAETLEE
  1681  SVYSIAISLA QRYSVSRWEV FMTHLEFLFT DSGLSTLEIE NRAQDLHLFE TLKTDPEAFH
  1741  QHMVKYIYPT IGGFDHERLQ YYFTLLENCG CADLGNCAIK PETHIRLLKK FKVVASGLNY
  1801  KKLTDENMSP LEALEPVLSS QNILSISKLV PKIPEKDGQM LSPSSLYTIW LQKLFWTGDP
  1861  HLIKQVPGSS PEWLHAYDVC MKYFDRLHPG DLITVVDAVT FSPKAVTKLS VEARKEMTRK
  1921  AIKTVKHFIE KPRKRNSEDE AQEAKDSKVT YADTLNHLEK SLAHLETLSH SFILSLKNSE
  1981  QETLQKYSHL YDLSRSEKEK LHDEAVAICL DGQPLAMIQQ LLEVAVGPLD ISPKDIVQSA
  2041  IMKIISALSG GSADLGGPRD PLKVLEGVVA AVHASVDKGE ELVSPEDLLE WLRPFCADDA
  2101  WPVRPRIHVL QILGQSFHLT EEDSKLLVFF RTEAILKASW PQRQVDIADI ENEENRYCLF
  2161  MELLESSHHE AEFQHLVLLL QAWPPMKSEY VITNNPWVRL ATVMLTRCTM ENKEGLGNEV
  2221  LKMCRSLYNT KQMLPAEGVK ELCLLLLNQS LLLPSLKLLL ESRDEHLHEM ALEQITAVTT
  2281  VNDSNCDQEL LSLLLDAKLL VKCVSTPFYP RIVDHLLASL QQGRWDAEEL GRHLREAGHE
  2341  AEAGSLLLAV RGTHQAFRTF STALRAAQHW V

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NBAS can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Other membrane
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.32
Highest tissue expression
48 nTPM

Expression across tissuesHPA

Tissue

  • choroid plexus: 48 nTPM
  • testis: 23 nTPM
  • heart muscle: 19 nTPM
  • skeletal muscle: 19 nTPM
  • pancreas: 18 nTPM
  • tongue: 16 nTPM

Single-cell type

  • erythrocyte progenitors: 491 nCPM
  • lactotrophs: 443 nCPM
  • megakaryocyte-erythroid progenitors: 396 nCPM
  • corticotrophs: 390 nCPM
  • somatotrophs: 378 nCPM
  • mast cells: 322 nCPM

Immune cell

  • non-classical monocyte: 8.5 nTPM
  • memory CD8 T-cell: 7.8 nTPM
  • NK-cell: 7.7 nTPM
  • MAIT T-cell: 7.2 nTPM
  • gdT-cell: 7.1 nTPM
  • T-reg: 6 nTPM

Brain region

  • pons: 38 nTPM
  • basal ganglia: 38 nTPM
  • cerebral cortex: 36 nTPM
  • hypothalamus: 35 nTPM
  • white matter: 35 nTPM
  • thalamus: 33 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NBAS.

Disease | AllUniProt

Conditions NBAS is implicated in, by any mechanism.

  • Short stature, optic nerve atrophy, and Pelger-Huet anomaly (SOPH) MIM:614800
  • Infantile liver failure syndrome 2 (ILFS2) MIM:616483

Disease | GeneticClinVar

246 pathogenic / likely-pathogenic of 2,888 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.78
gnomAD pLI
0
gnomAD missense Z
-0.87
DepMap mean gene effect
-0.6
DepMap dependency class
common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of NBAS in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads NBAS as an antibody target. Whether an autoantibody or antibody against NBAS could matter depends on whether native NBAS is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

NBAS is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label NBAS as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/NBAS. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

© 2026 · Seroatlas, Discover Oregon LLC · Terms of use

Loading the interactive Seroatlas protein explorer...