Seroatlas · Human Serome Atlas

BNC1

Zinc finger protein basonuclin-1

Also known as: BNC, BNC1_HUMAN, HsT19447

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

Protein identityUniProt · HPA

UniProt accession: Q01954
Gene: BNC1
Ensembl: ENSG00000169594
Chromosome: 15
Canonical length: 994 aa
Protein class: Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Transcription factors
Subcellular location: Nucleoplasm

OverviewNCBI Gene

This gene encodes a zinc finger protein present in the basal cell layer of the epidermis and in hair follicles. It is also found in abundance in the germ cells of testis and ovary. This protein is thought to play a regulatory role in keratinocyte proliferation and it may also be a regulator for rRNA transcription. Disruption of this gene has been implicated in premature ovarian failure as well as testicular premature aging. [provided by RefSeq, Sep 2020]

Canonical amino-acid sequenceUniProt

994 residues, UniProt reviewed canonical sequence.

>Q01954|BNC1
     1  MRRRPPSRGG RGAARARETR RQPRHRSGRR MAEAISCTLN CSCQSFKPGK INHRQCDQCK
    61  HGWVAHALSK LRIPPMYPTS QVEIVQSNVV FDISSLMLYG TQAIPVRLKI LLDRLFSVLK
   121  QDEVLQILHA LDWTLQDYIR GYVLQDASGK VLDHWSIMTS EEEVATLQQF LRFGETKSIV
   181  ELMAIQEKEE QSIIIPPSTA NVDIRAFIES CSHRSSSLPT PVDKGNPSSI HPFENLISNM
   241  TFMLPFQFFN PLPPALIGSL PEQYMLEQGH DQSQDPKQEV HGPFPDSSFL TSSSTPFQVE
   301  KDQCLNCPDA ITKKEDSTHL SDSSSYNIVT KFERTQLSPE AKVKPERNSL GTKKGRVFCT
   361  ACEKTFYDKG TLKIHYNAVH LKIKHKCTIE GCNMVFSSLR SRNRHSANPN PRLHMPMNRN
   421  NRDKDLRNSL NLASSENYKC PGFTVTSPDC RPPPSYPGSG EDSKGQPAFP NIGQNGVLFP
   481  NLKTVQPVLP FYRSPATPAE VANTPGILPS LPLLSSSIPE QLISNEMPFD ALPKKKSRKS
   541  SMPIKIEKEA VEIANEKRHN LSSDEDMPLQ VVSEDEQEAC SPQSHRVSEE QHVQSGGLGK
   601  PFPEGERPCH RESVIESSGA ISQTPEQATH NSERETEQTP ALIMVPREVE DGGHEHYFTP
   661  GMEPQVPFSD YMELQQRLLA GGLFSALSNR GMAFPCLEDS KELEHVGQHA LARQIEENRF
   721  QCDICKKTFK NACSVKIHHK NMHVKEMHTC TVEGCNATFP SRRSRDRHSS NLNLHQKALS
   781  QEALESSEDH FRAAYLLKDV AKEAYQDVAF TQQASQTSVI FKGTSRMGSL VYPITQVHSA
   841  SLESYNSGPL SEGTILDLST TSSMKSESSS HSSWDSDGVS EEGTVLMEDS DGNCEGSSLV
   901  PGEDEYPICV LMEKADQSLA SLPSGLPITC HLCQKTYSNK GTFRAHYKTV HLRQLHKCKV
   961  PGCNTMFSSV RSRNRHSQNP NLHKSLASSP SHLQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against BNC1 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): 0.58
Highest tissue expression: 24 nTPM

Expression across tissuesHPA

Tissue

testis: 24 nTPM
adipose tissue: 14 nTPM
esophagus: 12 nTPM
skin: 9 nTPM
epididymis: 7.7 nTPM
vagina: 6.4 nTPM

Single-cell type

mesothelial cells: 356 nCPM
late spermatids: 181 nCPM
epicardial cells: 155 nCPM
basal keratinocytes: 119 nCPM
ocular epithelial cells: 72 nCPM
suprabasal keratinocytes: 71 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

white matter: 0.8 nTPM
thalamus: 0.6 nTPM
hippocampal formation: 0.5 nTPM
cerebellum: 0.2 nTPM
cerebral cortex: 0.2 nTPM
hypothalamus: 0.2 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about BNC1.

Disease | AllUniProt

Conditions BNC1 is implicated in, by any mechanism.

Premature ovarian failure 16 (POF16) MIM:618723

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 141 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Male infertility with azoospermia or oligozoospermia due to single gene mutation
Premature ovarian failure 16
Premature ovarian failure

Disease | ImmuneIEDB

Conditions an epitope on BNC1 was assayed in.

narcolepsy B cell
multiple sclerosis B cell
peripheral nervous system disease B cell

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): 0.33
gnomAD pLI: 0.96
gnomAD missense Z: 1.2
DepMap mean gene effect: 0.01
DepMap dependency class: none

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

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of BNC1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

HSF2BP

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads BNC1 as an antibody target. Whether an autoantibody or antibody against BNC1 could matter depends on whether native BNC1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

BNC1 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 BNC1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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