Seroatlas · Human Serome Atlas

NBPF9

NBPF family member NBPF9

Also known as: AE01, NBPF9_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: P0DPF3
Gene: NBPF9
Ensembl: ENSG00000269713
Chromosome: 1
Canonical length: 1111 aa
Protein class: Predicted intracellular proteins
Subcellular location: Golgi apparatus,Vesicles,Microtubules,Cytokinetic bridge,Primary cilium,Cytosol,Mid piece,Principal piece,End piece

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. Gene copy number variations in the 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, Apr 2013]

Canonical amino-acid sequenceUniProt

1111 residues, UniProt reviewed canonical sequence.

>P0DPF3|NBPF9
     1  MVVSAGPWSS EKAEMNILEI NEKLRPQLAE NKQQFGNLKE RCFLTQLAGF LANRQKKYKY
    61  EECKDLIKFM LRNERQFKEE KLAEQLKQAE ELRQYKVLVH SQERELTQLK EKLREGRDAS
   121  RSLNEHLQAL LTPDEPDKSQ GQDLQEQLAE GCRLAQHLVQ KLSPENDEDE DEDVQVEEDE
   181  KVLESSAPRE VQKAEESKVA EDSLEECAIT CSNSHGPCDS NQPHKNIKIT FEEDEVNSTL
   241  VVDRESSHDE CQDALNILPV PGPTSSATNV SMVVSAGPLS SEKAEMNILE INEKLRPQLA
   301  EKKQQFRNLK EKCFLTQLAG FLANQQNKYK YEECKDLIKF MLRNERQFKE EKLAEQLKQA
   361  EELRQYKVLV HAQERELTQL REKLREGRDA SRSLNEHLQA LLTPDEPDKS QGQDLQEQLA
   421  EGCRLAQHLV QKLSPENDND DDEDVQIEVA EKVQKSSAPR EMQKAEEKEV PEDSLEECAI
   481  TYSNSHGPYD SNQPHRKTKI TFEEDKVDST LIGSSSHVER EDAVHIIPEN ESDDEEEEEK
   541  GPVSPRNLQE SEEEEVPQES WDEGYSTPSI PPEMLASYKS YSSTFHSLEE QQVCMAVDIG
   601  RHRWDQVKKE DQEATGPRLS RELLDEKGPE VLQDSLDRCY STPSGCLELT DSCQPYRSAF
   661  YVLEQQRVGL AVDMDEIEKY QEVEEDQDPS CPRLSRELLD EKEPEVLQDS LGRWYSTPSG
   721  YLELPDLGQP YSSAVYSLEE QYLGLALDLD RIKKDQEEEE DQGPPCPRLS RELLEVVEPE
   781  VLQDSLDRCY STPSSCLEQP DSCQPYGSSF YALEEKHVGF SLDVGEIEKK GKGKKRRGRR
   841  SKKKRRRGRK EGEENQNPPC PRLSRELLDE KEPEVLQDSL DRCYSTPSGY LELPDLGQPY
   901  SSAVYSLEEQ YLGLALDVDR IKKDQEEEED QGPPCPRLSR ELLEVVEPEV LQDSLDRCYS
   961  TPSSCLEQPD SCQPYGSSFY ALEEKHVGFS LDVGEIEKKG KGKKRRGRRS KKERRRGRKE
  1021  GEEDQNPPCP RLNGVLMEVE EPEVLQDSLD GCYSTPSMYF ELPDSFQHYR SVFYSFEEQH
  1081  ISFALYVDNR FFTLTVTSLH LVFQMEVIFP Q

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NBPF9 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): 0.64
Highest tissue expression: 130 nTPM

Expression across tissuesHPA

Tissue

esophagus: 130 nTPM
skin: 126 nTPM
bone marrow: 110 nTPM
pancreas: 110 nTPM
retina: 105 nTPM
appendix: 81 nTPM

Single-cell type

podocytes: 40 nCPM
hepatocytes: 34 nCPM
fibro-adipogenic progenitors: 33 nCPM
sertoli cells: 27 nCPM
myosatellite cells: 24 nCPM
proximal tubule cells: 23 nCPM

Immune cell

plasmacytoid DC: 74 nTPM
neutrophil: 40 nTPM
naive B-cell: 36 nTPM
memory B-cell: 29 nTPM
non-classical monocyte: 28 nTPM
eosinophil: 28 nTPM

Brain region

midbrain: 550 nTPM
cerebellum: 471 nTPM
choroid plexus: 377 nTPM
thalamus: 360 nTPM
cerebral cortex: 318 nTPM
pons: 282 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): 1.97
gnomAD pLI: 0
gnomAD missense Z: -7.04

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

Cellular components

cytoplasm

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads NBPF9 as an antibody target. Whether an autoantibody or antibody against NBPF9 could matter depends on whether native NBPF9 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

NBPF9 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 NBPF9 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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