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Tdark
NBPF1
Neuroblastoma breakpoint family member 1

Protein Summary
Description
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]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000430580
  • ENSP00000474456
  • ENSG00000219481

Symbol
  • KIAA1693
  • AD2
  • NBG
  • AB13
  • AB14
  • AB23
  • NBPF
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
transcription factor binding site profile
0.66
histone modification site profile
0.63
transcription factor
0.59
tissue
0.56
tissue sample
0.56


Related Tools
GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 6.04   (req: < 5)
Gene RIFs: 3   (req: <= 3)
Antibodies: 0   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 6.04   (req: >= 5)
Gene RIFs: 3   (req: > 3)
Antibodies: 0   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Term: 0
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
Protein Structure (0 Structures, 1 AlphaFold Model)
RepresentationColor Scheme
AF-Q3BBV0-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

Gene Ontology Terms (1)
Items per page:
10
1 – 1 of 1
GO Term
Evidence
Assigned by
Inferred from Electronic Annotation (IEA)
UniProtKB-SubCell
Protein-Protein Interactions (29)
1 – 10 of 29
NBPF3
Tdark
Novelty: 0.43771383
p_int: 0.999991601
p_ni: 9.5e-8
p_wrong: 0.000008304
Score: 0.708
Data Source: BioPlex,STRINGDB
TSGA10IP
Tdark
Novelty: 20.75428866
p_int: 0.999693816
p_ni: 0.000008839
p_wrong: 0.000297345
Data Source: BioPlex
UGT2B17
Tbio
Family: Enzyme
Novelty: 0.0088729
Score: 0.803
Data Source: STRINGDB
HYDIN
Tbio
Novelty: 0.03318399
Score: 0.803
Data Source: STRINGDB
NPEPPS
Tchem
Family: Enzyme
Novelty: 0.01214136
Score: 0.803
Data Source: STRINGDB
GPRIN2
Tbio
Novelty: 0.07888894
Score: 0.801
Data Source: STRINGDB
SRGAP3
Tbio
Family: Enzyme
Novelty: 0.01913784
Score: 0.8
Data Source: STRINGDB
SRGAP2
Tbio
Family: Enzyme
Novelty: 0.02951755
Score: 0.785
Data Source: STRINGDB
DRD5
Tchem
Family: GPCR
Novelty: 0.00803909
Score: 0.754
Data Source: STRINGDB
GTF2I
Tbio
Family: TF
Novelty: 0.00703345
Score: 0.749
Data Source: STRINGDB
Publication Statistics
PubMed Score  6.04

PubMed score by year
PubTator Score  39.15

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer