Seroatlas · Human Serome Atlas

NBPF4

NBPF family member NBPF4

Also known as: FLJ32833, NBPF4_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q96M43
Gene: NBPF4
Ensembl: ENSG00000196427
Chromosome: 1
Canonical length: 638 aa
Protein class: Predicted intracellular proteins
Subcellular location: Nucleoplasm,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. 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, Mar 2013]

Canonical amino-acid sequenceUniProt

638 residues, UniProt reviewed canonical sequence.

>Q96M43|NBPF4
     1  MVVSADPLSS ERAEMNILEI NQELRSQLAE SNQQFRDLKE KFLITQATAY SLANQLKKYK
    61  CEEYKDIIDS VLRDELQSME KLAEKLRQAE ELRQYKALVH SQAKELTQLR EKLREGRDAS
   121  RWLNKHLKTL LTPDDPDKSQ GQDLREQLAE GHRLAEHLVH KLSPENDEDE DEDEDDKDEE
   181  VEKVQESPAP REVQKTEEKE VPQDSLEECA VTCSNSHNPS NSNQPHRSTK ITFKEHEVDS
   241  ALVVESEHPH DEEEEALNIP PENQNDHEEE EGKAPVPPRH HDKSNSYRHR EVSFLALDEQ
   301  KVCSAQDVAR DYSNPKWDET SLGFLEKQSD LEEVKGQETV APRLSRGPLR VDKHEIPQES
   361  LDGCCLTPSI LPDLTPSYHP YWSTLYSFED KQVSLALVDK IKKDQEEIED QSPPCPRLSQ
   421  ELPEVKEQEV PEDSVNEVYL TPSVHHDVSD CHQPYSSTLS SLEDQLACSA LDVASPTEAA
   481  CPQGTWSGDL SHHQSEVQVS QAQLEPSTLV PSCLRLQLDQ GFHCGNGLAQ RGLSSTTCSF
   541  SANADSGNQW PFQELVLEPS LGMKNPPQLE DDALEGSASN TQGRQVTGRI RASLVLILKT
   601  IRRRLPFSKW RLAFRFAGPH AESAEIPNTA GRTQRMAG

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NBPF4 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): 0.65
Highest tissue expression: 4.1 nTPM

Expression across tissuesHPA

Tissue

testis: 4.1 nTPM
small intestine: 1.2 nTPM
pituitary gland: 0.7 nTPM
basal ganglia: 0.5 nTPM
breast: 0.5 nTPM
placenta: 0.5 nTPM

Single-cell type

late primary spermatocytes: 8.5 nCPM
gonadotrophs: 3.1 nCPM
goblet cells: 1.9 nCPM
late spermatids: 1.6 nCPM
early spermatids: 0.7 nCPM
enteric transient amplifying cells: 0.6 nCPM

Immune cell

basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM
MAIT T-cell: 0 nTPM

Brain region

basal ganglia: 2.2 nTPM
pons: 1 nTPM
hippocampal formation: 0.4 nTPM
medulla oblongata: 0.4 nTPM
cerebral cortex: 0.3 nTPM
thalamus: 0.3 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): 1.47
gnomAD pLI: 0.01
gnomAD missense Z: 0.74

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% 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 NBPF4 as an antibody target. Whether an autoantibody or antibody against NBPF4 could matter depends on whether native NBPF4 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

NBPF4 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 NBPF4 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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