NBPF26

Summary

NBPF26 (NBPF member 26, HGNC:49571) is a protein-coding gene on chromosome 1p11.2, encoding NBPF family member NBPF26 (B4DH59).

Predicted to enable calcium ion binding activity. Predicted to be located in cytoplasm.

Source: NCBI Gene 101060684 — RefSeq curated summary.

At a glance

• MANE Select transcript: NM_001405520

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:49571
Approved symbol	NBPF26
Name	NBPF member 26
Location	1p11.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000273136
Ensembl biotype	protein_coding
Entrez	101060684

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 7 protein_coding, 1 nonsense_mediated_decay

ENST00000611287, ENST00000611702, ENST00000617913, ENST00000620612, ENST00000651062, ENST00000652444, ENST00000652763, ENST00000711669

RefSeq mRNA: 3 — MANE Select: NM_001405520 NM_001351372, NM_001395637, NM_001405520

Canonical transcript exons

ENST00000620612 — 36 exons

Exon	Start	End
ENSE00003583057	120805556	120805765
ENSE00003702477	120833603	120833775
ENSE00003704709	120816085	120816157
ENSE00003705940	120838745	120838917
ENSE00003706107	120822104	120822267
ENSE00003706845	120818123	120818174
ENSE00003707195	120837169	120837341
ENSE00003707813	120814829	120815043
ENSE00003708026	120830416	120830588
ENSE00003708489	120816622	120816827
ENSE00003708916	120831298	120831349
ENSE00003709033	120831988	120832160
ENSE00003709317	120823974	120824146
ENSE00003710476	120823309	120823360
ENSE00003710524	120836517	120836568
ENSE00003710590	120838051	120838102
ENSE00003711090	120839632	120839740
ENSE00003711718	120810347	120810558
ENSE00003717124	120811886	120812095
ENSE00003721438	120809811	120809883
ENSE00003721644	120807607	120807709
ENSE00003743153	120813891	120813993
ENSE00003746289	120808545	120808759
ENSE00003754366	120840350	120842229
ENSE00003758046	120829764	120829815
ENSE00003760349	120832875	120832983
ENSE00003792278	120763628	120763709
ENSE00003795092	120723945	120724250
ENSE00003845765	120793161	120793496
ENSE00003846770	120784974	120785233
ENSE00004016400	120827054	120827226
ENSE00004016401	120834630	120834802
ENSE00004016402	120824866	120824917
ENSE00004016407	120826406	120826457
ENSE00004016408	120825514	120825686
ENSE00004016410	120834495	120834546

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 97.76.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0957 / max 10.7173, expressed in 29 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
201645	0.0957	29

Top tissues by expression

134 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
sural nerve	UBERON:0015488	97.76	gold quality
ventricular zone	UBERON:0003053	96.22	gold quality
calcaneal tendon	UBERON:0003701	92.35	gold quality
right coronary artery	UBERON:0001625	90.16	gold quality
mucosa of stomach	UBERON:0001199	89.80	gold quality
granulocyte	CL:0000094	89.44	gold quality
skin of leg	UBERON:0001511	88.76	gold quality
vermiform appendix	UBERON:0001154	88.48	gold quality
zone of skin	UBERON:0000014	88.47	gold quality
leukocyte	CL:0000738	87.93	gold quality
skin of abdomen	UBERON:0001416	87.91	gold quality
blood	UBERON:0000178	87.85	gold quality
monocyte	CL:0000576	87.75	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	87.58	gold quality
smooth muscle tissue	UBERON:0001135	87.38	gold quality
ganglionic eminence	UBERON:0004023	87.01	gold quality
bone marrow cell	CL:0002092	86.73	gold quality
popliteal artery	UBERON:0002250	86.26	gold quality
tibial artery	UBERON:0007610	86.26	gold quality
right lung	UBERON:0002167	85.70	gold quality
right lobe of thyroid gland	UBERON:0001119	85.18	gold quality
descending thoracic aorta	UBERON:0002345	85.04	gold quality
thoracic aorta	UBERON:0001515	84.79	gold quality
tibial nerve	UBERON:0001323	84.69	gold quality
ascending aorta	UBERON:0001496	84.36	gold quality
bone marrow	UBERON:0002371	84.23	gold quality
stromal cell of endometrium	CL:0002255	84.17	gold quality
gall bladder	UBERON:0002110	84.16	gold quality
lower esophagus	UBERON:0013473	84.09	gold quality
right uterine tube	UBERON:0001302	84.02	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Paralogs (14): NBPF3 (ENSG00000142794), NBPF20 (ENSG00000162825), NBPF6 (ENSG00000186086), NBPF4 (ENSG00000196427), NBPF1 (ENSG00000219481), NBPF11 (ENSG00000263956), NBPF15 (ENSG00000266338), NBPF12 (ENSG00000268043), NBPF9 (ENSG00000269713), NBPF8 (ENSG00000270231), NBPF14 (ENSG00000270629), (ENSG00000271254), NBPF19 (ENSG00000271383), NBPF10 (ENSG00000271425)

Protein

Protein identifiers

NBPF family member NBPF26 — B4DH59 (reviewed: B4DH59)

Alternative names: Neuroblastoma breakpoint family member 26

All UniProt accessions (7): A0A087WWQ1, A0A087WZS8, A0A494C053, A0A494C0A2, A0A494C1A6, A0AAA9YHZ3, B4DH59

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Cytoplasm.

Miscellaneous. Encoded by one of the numerous copies of NBPF genes clustered in the p36, p12 and q21 region of the chromosome 1.

Similarity. Belongs to the NBPF family.

Isoforms (2)

UniProt ID	Names	Canonical?
B4DH59-1	1	yes
B4DH59-2	2

RefSeq proteins (3): NP_001338301, NP_001382566, NP_001392449* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000152	EGF-type_Asp/Asn_hydroxyl_site	PTM
IPR000742	EGF	Domain
IPR001881	EGF-like_Ca-bd_dom	Domain
IPR010630	Olduvai_dom	Domain
IPR013032	EGF-like_CS	Conserved_site
IPR018097	EGF_Ca-bd_CS	Conserved_site
IPR049883	NOTCH1_EGF-like	Domain
IPR055306	NBPF	Family

Pfam: PF00008, PF06758, PF07645, PF12661

UniProt features (59 total): domain 19, disulfide bond 17, compositionally biased region 6, sequence conflict 6, region of interest 5, splice variant 4, chain 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-B4DH59-F1	41.34	0.01

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Disulfide bonds (17): 28–41, 35–51, 53–62, 68–79, 73–90, 92–101, 109–121, 115–131, 133–142, 148–159, 153–168, 170–179, 186–198, 192–207, 209–218, 225–236, 230–246

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 6 (showing top): chr1p11, CHAF1B_TARGET_GENES, HE_LIM_SUN_FETAL_LUNG_C0_MID_MESOTHELIAL_CELL, HE_LIM_SUN_FETAL_LUNG_C7_PROLIFERATING_SCHWANN_CELL, GOBP_POSITIVE_REGULATION_OF_SIGNALING, GOMF_CALCIUM_ION_BINDING

GO Biological Process (3): positive regulation of signal transduction (GO:0009967), animal organ development (GO:0048513), system development (GO:0048731)

GO Molecular Function (1): calcium ion binding (GO:0005509)

GO Cellular Component (2): extracellular region (GO:0005576), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
anatomical structure development	2
cellular anatomical structure	2
signal transduction	1
regulation of signal transduction	1
positive regulation of cell communication	1
positive regulation of signaling	1
positive regulation of response to stimulus	1
multicellular organism development	1
metal ion binding	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

236 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NBPF26	A6NLF2	A6NLF2	621
NBPF26	ZNF600	Q6ZNG1	507
NBPF26	ZNF28	P17035	507
NBPF26	ZNF394	Q53GI3	447
NBPF26	Q8NG57	Q8NG57	447
NBPF26	ATF7IP2	Q5U623	446
NBPF26	DOP1A	Q5JWR5	400
NBPF26	MALL	Q13021	371
NBPF26	CNPY2	Q9Y2B0	371
NBPF26	ELOA2	Q8IYF1	368
NBPF26	DTX2	Q86UW9	366
NBPF26	KATNAL2	Q8IYT4	363
NBPF26	ADAM30	Q9UKF2	351
NBPF26	ADGRF1	Q5T601	348
NBPF26	NDUFB1	O75438	348

IntAct

3 interactions, top by confidence:

A	B	Type	Score
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350

ESM2 similar proteins: A0A087WUL8, A0A0J9YWL9, A0A0U1RQI7, A0A1D9BZF0, A6NJU9, A6NKU9, A6NNC1, A6QL64, A8MRT5, B2SU53, B4DH59, B5DUH6, C9JG80, E5RHQ5, F8W0I5, P01068, P02895, P06916, P07907, P0DKL2, P0DPF3, P0DRJ4, P13208, P14417, P32072, P83060, Q26755, Q3BBV0, Q3BBV2, Q4ZJY7, Q4ZJZ0, Q4ZJZ1, Q4ZJZ3, Q5TAG4, Q5TI25, Q6P3W6, Q6RY98, Q7T3L1, Q86SG3, Q86T75

Diamond homologs: A0A087WUL8, B4DH59, P0C2Y1, P0DPF2, P0DPF3, Q32LC2, Q3BBV0, Q3BBV2, Q5TAG4, Q5TI25, Q5VU43, Q5VWK0, Q6P3W6, Q86T75, Q86XG9, Q8N660, Q96M43, Q9H094, A0A096LNW5, A2RUV0, B8JI71, G3I6Z6, O35516, O75882, P07207, P0DPK3, P0DPK4, P10040, P21783, P46530, P46531, P98160, Q01705, Q04721, Q04756, Q07008, Q20911, Q7Z3S9, Q99466, Q99J86

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

0 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	0
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1979 predictions. Top by Δscore:

Variant	Effect	Δscore
1:120816081:T:A	acceptor_loss	1.0000
1:120816082:C:CC	acceptor_gain	1.0000
1:120816082:C:T	acceptor_loss	1.0000
1:120816083:TCTG:T	acceptor_loss	1.0000
1:120816084:TT:T	acceptor_gain	1.0000
1:120816084:TTCTG:T	acceptor_loss	1.0000
1:120816085:TTT:T	acceptor_gain	1.0000
1:120816085:TTTC:T	acceptor_loss	1.0000
1:120816086:TTTT:T	acceptor_gain	1.0000
1:120816609:A:T	acceptor_gain	1.0000
1:120816610:C:CT	acceptor_gain	1.0000
1:120818119:T:A	acceptor_loss	1.0000
1:120818120:C:A	acceptor_loss	1.0000
1:120818120:C:CC	acceptor_gain	1.0000
1:120818121:TC:T	acceptor_loss	1.0000
1:120818122:TTC:T	acceptor_loss	1.0000
1:120818124:TTTT:T	acceptor_gain	1.0000
1:120823359:C:G	donor_loss	1.0000
1:120823361:CACC:C	donor_loss	1.0000
1:120823362:TCA:T	donor_loss	1.0000
1:120823363:CTCA:C	donor_loss	1.0000
1:120823970:T:A	acceptor_loss	1.0000
1:120823971:C:CC	acceptor_gain	1.0000
1:120823972:CC:C	acceptor_gain	1.0000
1:120823973:GC:G	acceptor_gain	1.0000
1:120824145:C:A	donor_loss	1.0000
1:120824145:CCATC:C	donor_gain	1.0000
1:120824146:ACC:A	donor_loss	1.0000
1:120824146:ACCAT:A	donor_gain	1.0000
1:120824147:CA:C	donor_loss	1.0000

AlphaMissense

9501 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:120785233:G:T	G139C	0.995
1:120785104:T:C	F96L	0.994
1:120785106:T:A	F96L	0.994
1:120785106:T:G	F96L	0.994
1:120785119:T:A	C101S	0.994
1:120785120:G:C	C101S	0.994
1:120793169:T:A	C142S	0.994
1:120793170:G:C	C142S	0.994
1:120793301:T:A	C186S	0.994
1:120793302:G:C	C186S	0.994
1:120785002:T:A	C62S	0.991
1:120785003:G:C	C62S	0.991
1:120785035:T:A	C73S	0.991
1:120785036:G:C	C73S	0.991
1:120785121:C:G	C101W	0.990
1:120793161:G:T	G139V	0.990
1:120785092:T:A	C92S	0.988
1:120785093:G:C	C92S	0.988
1:120793280:T:A	C179S	0.988
1:120793281:G:C	C179S	0.988
1:120793319:T:A	C192S	0.988
1:120793320:G:C	C192S	0.988
1:120793397:T:A	C218S	0.988
1:120793398:G:C	C218S	0.988
1:120784975:T:A	C53S	0.986
1:120784976:G:C	C53S	0.986
1:120785004:T:G	C62W	0.986
1:120785120:G:A	C101Y	0.986
1:120793171:C:G	C142W	0.986
1:120793364:T:A	C207S	0.986

dbSNP variants (sampled 300 via entrez): RS111225939 (1:120838685 T>C), RS111249846 (1:120838524 G>A,C,T), RS111302568 (1:120841976 T>G), RS111367659 (1:120840530 T>C), RS111976873 (1:120836485 A>C), RS112021146 (1:120838525 T>A,C), RS112083903 (1:120841129 T>C), RS112295321 (1:120841340 G>A), RS112357858 (1:120837447 C>A), RS112549407 (1:120842551 C>A,T), RS112553858 (1:120842687 C>A,G,T), RS112642557 (1:120840100 C>A), RS112653658 (1:120841683 G>A), RS11266762 (1:120842069 A>G), RS112698249 (1:120837044 A>C)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

15 total (human), top 15 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	increases expression	1
alpha-pinene	affects cotreatment, increases expression, increases oxidation, increases abundance	1
sodium arsenite	increases expression	1
manganese chloride	decreases expression, increases abundance	1
ferrous chloride	decreases expression	1
methacrylaldehyde	affects cotreatment, increases expression, increases oxidation, increases abundance	1
di-n-butylphosphoric acid	affects expression	1
Acrolein	increases expression, increases oxidation, increases abundance, affects cotreatment	1
Air Pollutants	increases expression, increases oxidation, affects cotreatment, increases abundance	1
Cadmium	increases abundance, increases expression	1
Gallic Acid	increases expression	1
Manganese	decreases expression, increases abundance	1
Ozone	affects cotreatment, increases expression, increases oxidation, increases abundance	1
Cadmium Chloride	increases abundance, increases expression	1
Volatile Organic Compounds	increases oxidation, affects cotreatment, increases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.