Seroatlas · Human Serome Atlas

NBPF1

NBPF family member NBPF1

Also known as: FLJ20719, KIAA1693, NBPF1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q3BBV0
Gene: NBPF1
Ensembl: ENSG00000219481
Chromosome: 1
Canonical length: 1214 aa
Protein class: Cancer-related genes, 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

1214 residues, UniProt reviewed canonical sequence.

>Q3BBV0|NBPF1
     1  MVVSAGPWSS EKAETNILEI NEKLRPQLAE NKQQFRNLKE KCFVTQLAGF LANRQKKYKY
    61  EECKDLIKFM LRNERQFKEE KLAEQLKQAE ELRQYKVLVH SQERELTQLR EKLREGRDAS
   121  RSLNQHLQAL LTPDKPDKSQ GQDLQEQLAE GCRLAQQLFQ KLSPENDEDE DEDVQVEEAE
   181  KVLESSAPRE VQKAEESKVP EDSLEECAIT CSNSHSPCDS NQPHKNINIT FEEDKVNSTL
   241  VVDRESSHDE CQDAVNILPV PGPTSSATNV SMVVSAGPLS SEKAEMNILE INEKLHPQLA
   301  EKKQQFRNLK EKCFVTQLAC FLANQQNKYK YEECKDLIKS MLRNERQFKE EKLAEQLKQA
   361  EELRQYKVLV HSQERELTQL REKLREGRDA SRSLNQHLQA LLTPDKPDKS QGQDLQEQLA
   421  EGCRLAQQLF QKLSPENDED EDEDVQVEEA EKVLESSAPR EVQKAEESKV PEDSLEECAI
   481  TCSNSHGPCD SNQPHKNINI TFEEDKVNSA LVVDRESSHD ECQDAVNILP VPGPTSSATN
   541  VSMVVSAGPL SSEKAEMNIL EINEKLHPQL AEKKQQFRNL KEKCFVTQLA CFLANQQNKY
   601  KNEECKDLIK SMLRNERQFK EEKLAEQLKQ AEELRQYKVL VHSQERELTQ LREKLREGRD
   661  ASCSLNQHLQ ALLTPDEPDK SQGQDLQEQL AEGCRLAQHL VQKLSPENDN DDDEDVQVEV
   721  AEKVQKSSAP REMPKAEEKE VPEDSLEECA ITCSNSHGPY DSNQPHRKTK ITFEEDKVDS
   781  TLIGSSSHVE WEDAVHIIPE NESDDEEEEE KGPVSPRNLQ ESEEEEVPQE SWDEGYSTLS
   841  IPPEMLASYK SYSGTFHSLE EQQVCMAVDI GGHRWDQVKK EDQEATGPRL SRELLDEKGP
   901  EVLQDSLDRC YSTPSGYLEL TDSCQPYRSA FYILEQQRVG WALDMDEIEK YQEVEEDQDP
   961  SCPRLSRELL DEKEPEVLQD SLDRCYSTPS GYLELPDLGQ PYRSAVYSLE EQYLGLALDV
  1021  DRIKKDQEEE EDQGPPCPRL SRELLEAVEP EVLQDSLDRC YSTPSSCLEQ PDSCLPYGSS
  1081  FYALEEKHVG FSLDVGEIEK KGKGKKRRGR RSTKKRRRRG RKEGEEDQNP PCPRLSGMLM
  1141  EVEEPEVLQD SLDRCYSTPS MYFELPDSFQ HYRSVFYSFE EQHISFALDV DNRFLTLMGT
  1201  SLHLVFQMGV IFPQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NBPF1 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): 0.61
Highest tissue expression: 31 nTPM

Expression across tissuesHPA

Tissue

adrenal gland: 31 nTPM
cerebellum: 24 nTPM
testis: 22 nTPM
spinal cord: 19 nTPM
ovary: 18 nTPM
cervix: 16 nTPM

Single-cell type

adrenal cortex cells: 83 nCPM
early primary spermatocytes: 65 nCPM
differentiating spermatogonia: 36 nCPM
renal collecting duct principal cells: 33 nCPM
renal connecting tubule cells: 32 nCPM
colonocytes: 32 nCPM

Immune cell

eosinophil: 1.2 nTPM
memory CD8 T-cell: 0.4 nTPM
naive CD8 T-cell: 0.4 nTPM
MAIT T-cell: 0.3 nTPM
memory B-cell: 0.3 nTPM
memory CD4 T-cell: 0.3 nTPM

Brain region

white matter: 11 nTPM
medulla oblongata: 11 nTPM
cerebellum: 10 nTPM
pons: 10 nTPM
basal ganglia: 9.8 nTPM
thalamus: 9.8 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: -1.09

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% 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 NBPF1 as an antibody target. Whether an autoantibody or antibody against NBPF1 could matter depends on whether native NBPF1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

NBPF1 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 NBPF1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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