Seroatlas · Human Serome Atlas

NBPF3

NBPF family member NBPF3

Also known as: AE2, NBPF3_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q9H094
Gene
NBPF3
Ensembl
ENSG00000142794
Chromosome
1
Canonical length
633 aa
Protein class
Predicted intracellular proteins
Subcellular location
Nucleoplasm,Nuclear speckles,Cytosol

OverviewNCBI Gene

This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. DUF1220 copy number variations in human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Feb 2013]

Canonical amino-acid sequenceUniProt

633 residues, UniProt reviewed canonical sequence.

>Q9H094|NBPF3
     1  MPLTPTVQGF QWTLRGPDVE TSPFGAPRAA SHGVGRHQEL RDPTVPGPTS SATNVSMVVS
    61  AGPWSGEKAE MNILEINKKS RPQLAENKQQ FRNLKQKCLV TQVAYFLANR QNNYDYEDCK
   121  DLIKSMLRDE RLLTEEKLAE ELGQAEELRQ YKVLVHSQER ELTQLREKLQ EGRDASRSLN
   181  QHLQALLTPD EPDNSQGRDL REQLAEGCRL AQHLVQKLSP ENDDDEDEDV KVEEAEKVQE
   241  LYAPREVQKA EEKEVPEDSL EECAITCSNS HHPCESNQPY GNTRITFEED QVDSTLIDSS
   301  SHDEWLDAVC IIPENESDHE QEEEKGPVSP RNLQESEEEE APQESWDEGD WTLSIPPDMS
   361  ASYQSDRSTF HSVEEQQVGL ALDIGRHWCD QVKKEDQEAT SPRLSRELLD EKEPEVLQDS
   421  LDRFYSTPFE YLELPDLCQP YRSDFYSLQE QHLGLALDLD RMKKDQEEEE DQGPPCPRLS
   481  RELPEVVEPE DLQDSLDRWY STPFSYPELP DSCQPYGSCF YSLEEEHVGF SLDVDEIEKY
   541  QEGEEDQKPP CPRLNEVLME AEEPEVLQDS LDRCYSTTST YFQLHASFQQ YRSAFYSFEE
   601  QDVSLALDVD NRFFTLTVIR HHLAFQMGVI FPH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NBPF3 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)
0.63
Highest tissue expression
9.1 nTPM

Expression across tissuesHPA

Tissue

  • testis: 9.1 nTPM
  • cerebellum: 2.2 nTPM
  • pituitary gland: 1.8 nTPM
  • adrenal gland: 1.6 nTPM
  • kidney: 1.6 nTPM
  • skin: 1.6 nTPM

Single-cell type

  • adrenal cortex cells: 99 nCPM
  • early primary spermatocytes: 46 nCPM
  • leydig cells: 45 nCPM
  • oligodendrocyte progenitor cells: 34 nCPM
  • late primary spermatocytes: 34 nCPM
  • pituitary stem cells: 34 nCPM

Immune cell

  • MAIT T-cell: 2.4 nTPM
  • gdT-cell: 1.7 nTPM
  • naive CD8 T-cell: 1.6 nTPM
  • memory CD8 T-cell: 1.4 nTPM
  • naive CD4 T-cell: 1.2 nTPM
  • eosinophil: 1 nTPM

Brain region

  • cerebral cortex: 1 nTPM
  • medulla oblongata: 0.9 nTPM
  • amygdala: 0.8 nTPM
  • cerebellum: 0.8 nTPM
  • thalamus: 0.7 nTPM
  • basal ganglia: 0.6 nTPM

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)
1.15
gnomAD pLI
0
gnomAD missense Z
-0.03
DepMap mean gene effect
-0.1
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads NBPF3 as an antibody target. Whether an autoantibody or antibody against NBPF3 could matter depends on whether native NBPF3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

NBPF3 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 NBPF3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/NBPF3. 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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