Seroatlas · Human Serome Atlas

NACC1

Nucleus accumbens-associated protein 1

Also known as: BEND8, BTBD14B, BTBD30, NAC-1, NAC1, NACC1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q96RE7
Gene
NACC1
Ensembl
ENSG00000160877
Chromosome
19
Canonical length
527 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Vesicles
Quaternary structure
Homooligomer

OverviewNCBI Gene

This gene encodes a member of the BTB/POZ protein family. BTB/POZ proteins are involved in several cellular processes including proliferation, apoptosis and transcription regulation. The encoded protein is a transcriptional repressor that plays a role in stem cell self-renewal and pluripotency maintenance. The encoded protein also suppresses transcription of the candidate tumor suppressor Gadd45GIP1, and expression of this gene may play a role in the progression of multiple types of cancer. A pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, Feb 2012]

Canonical amino-acid sequenceUniProt

527 residues, UniProt reviewed canonical sequence.

>Q96RE7|NACC1
     1  MAQTLQMEIP NFGNSILECL NEQRLQGLYC DVSVVVKGHA FKAHRAVLAA SSSYFRDLFN
    61  NSRSAVVELP AAVQPQSFQQ ILSFCYTGRL SMNVGDQFLL MYTAGFLQIQ EIMEKGTEFF
   121  LKVSSPSCDS QGLHAEEAPS SEPQSPVAQT SGWPACSTPL PLVSRVKTEQ QESDSVQCMP
   181  VAKRLWDSGQ KEAGGGGNGS RKMAKFSTPD LAANRPHQPP PPQQAPVVAA AQPAVAAGAG
   241  QPAGGVAAAG GVVSGPSTSE RTSPGTSSAY TSDSPGSYHN EEDEEEDGGE EGMDEQYRQI
   301  CNMYTMYSMM NVGQTAEKVE ALPEQVAPES RNRIRVRQDL ASLPAELINQ IGNRCHPKLY
   361  DEGDPSEKLE LVTGTNVYIT RAQLMNCHVS AGTRHKVLLR RLLASFFDRN TLANSCGTGI
   421  RSSTNDPRRK PLDSRVLHAV KYYCQNFAPN FKESEMNAIA ADMCTNARRV VRKSWMPKVK
   481  VLKAEDDAYT TFISETGKIE PDMMGVEHGF ETASHEGEAG PSAEALQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NACC1 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
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.51
Highest tissue expression
34 nTPM

Expression across tissuesHPA

Tissue

  • cerebral cortex: 34 nTPM
  • amygdala: 32 nTPM
  • hippocampal formation: 31 nTPM
  • basal ganglia: 27 nTPM
  • esophagus: 25 nTPM
  • spinal cord: 24 nTPM

Single-cell type

  • alveolar cells type 1: 57 nCPM
  • alveolar cells type 2: 40 nCPM
  • syncytiotrophoblasts: 34 nCPM
  • megakaryocytes: 31 nCPM
  • respiratory deuterosomal cells: 27 nCPM
  • cytotrophoblasts: 26 nCPM

Immune cell

  • neutrophil: 0.2 nTPM
  • gdT-cell: 0.1 nTPM
  • intermediate monocyte: 0.1 nTPM
  • memory CD4 T-cell: 0.1 nTPM
  • memory CD8 T-cell: 0.1 nTPM
  • plasmacytoid DC: 0.1 nTPM

Brain region

  • amygdala: 119 nTPM
  • cerebral cortex: 114 nTPM
  • hippocampal formation: 109 nTPM
  • thalamus: 97 nTPM
  • basal ganglia: 93 nTPM
  • midbrain: 90 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NACC1.

Disease | AllUniProt

Conditions NACC1 is implicated in, by any mechanism.

  • Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination (NECFM) MIM:617393

Disease | GeneticClinVar

6 pathogenic / likely-pathogenic of 509 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination
  • NACC1-related disorder
  • Inborn genetic diseases

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)
0.17
gnomAD pLI
1
gnomAD missense Z
4.17
DepMap mean gene effect
-0.1
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% 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 NACC1 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 NACC1 as an antibody target. Whether an autoantibody or antibody against NACC1 could matter depends on whether native NACC1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

NACC1 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 NACC1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/NACC1. 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).

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