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NBPF1 NBPF member 1 [ Homo sapiens (human) ]

Gene ID: 55672, updated on 10-Oct-2023

Summary

Official Symbol
NBPF1provided by HGNC
Official Full Name
NBPF member 1provided by HGNC
Primary source
HGNC:HGNC:26088
See related
Ensembl:ENSG00000219481 MIM:610501; AllianceGenome:HGNC:26088
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AD2; NBG; AB13; AB14; AB23; NBPF
Summary
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]
Annotation information
Annotation category: partial on reference assembly
Expression
Ubiquitous expression in testis (RPKM 28.4), ovary (RPKM 16.7) and 25 other tissues See more
Orthologs
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Genomic context

See NBPF1 in Genome Data Viewer
Location:
1p36.13
Exon count:
31
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (16562423..16613564, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (16004103..16075615, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (16888818..16940059, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene PDE4DIP pseudogene 8 Neighboring gene tRNA-Lys (CTT) 7-1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16881397-16881897 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16890771-16891648 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16892527-16893404 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr1:16893405-16894282 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:16902769-16903269 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:16916551-16917050 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:16918378-16918567 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:16929815-16930315 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:16933765-16934266 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:16934267-16934766 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16939903-16940860 Neighboring gene rootletin-like Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16945048-16945716 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16945717-16946384 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16946385-16947053 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16950326-16950836 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 334 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:16963058-16963558 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16964533-16965424 Neighboring gene CROCC pseudogene 2 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr1:16970879-16971669 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16971670-16972459 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16973171-16973790 Neighboring gene macrophage stimulating 1 pseudogene 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ20719, KIAA1693

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
neuroblastoma breakpoint family member 1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001405666.3NP_001392595.1  neuroblastoma breakpoint family member 1 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
  2. NM_001405667.2NP_001392596.1  neuroblastoma breakpoint family member 1 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
    UniProtKB/Swiss-Prot
    Q3BBV0, Q8N4E8, Q9C0H0, S4R3K2
  3. NM_001405668.2NP_001392597.1  neuroblastoma breakpoint family member 1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
    UniProtKB/Swiss-Prot
    Q3BBV0, Q8N4E8, Q9C0H0, S4R3K2
  4. NM_001405669.2NP_001392598.1  neuroblastoma breakpoint family member 1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
    UniProtKB/Swiss-Prot
    Q3BBV0, Q8N4E8, Q9C0H0, S4R3K2
  5. NM_001405670.2NP_001392599.1  neuroblastoma breakpoint family member 1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
    UniProtKB/Swiss-Prot
    Q3BBV0, Q8N4E8, Q9C0H0, S4R3K2
  6. NM_001405671.2NP_001392600.1  neuroblastoma breakpoint family member 1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
    UniProtKB/Swiss-Prot
    Q3BBV0, Q8N4E8, Q9C0H0, S4R3K2
  7. NM_001405672.2NP_001392601.1  neuroblastoma breakpoint family member 1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
    UniProtKB/Swiss-Prot
    Q3BBV0, Q8N4E8, Q9C0H0, S4R3K2
  8. NM_001405673.2NP_001392602.1  neuroblastoma breakpoint family member 1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
    UniProtKB/Swiss-Prot
    Q3BBV0, Q8N4E8, Q9C0H0, S4R3K2
  9. NM_001405674.2NP_001392603.1  neuroblastoma breakpoint family member 1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
    UniProtKB/Swiss-Prot
    Q3BBV0, Q8N4E8, Q9C0H0, S4R3K2
  10. NM_001405675.2NP_001392604.1  neuroblastoma breakpoint family member 1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
    UniProtKB/Swiss-Prot
    Q3BBV0, Q8N4E8, Q9C0H0, S4R3K2
  11. NM_001405676.2NP_001392605.1  neuroblastoma breakpoint family member 1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
    UniProtKB/Swiss-Prot
    Q3BBV0, Q8N4E8, Q9C0H0, S4R3K2
  12. NM_001405677.2NP_001392606.1  neuroblastoma breakpoint family member 1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
    UniProtKB/Swiss-Prot
    Q3BBV0, Q8N4E8, Q9C0H0, S4R3K2
  13. NM_001405678.2NP_001392607.1  neuroblastoma breakpoint family member 1 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
    UniProtKB/Swiss-Prot
    Q3BBV0, Q8N4E8, Q9C0H0, S4R3K2
  14. NM_001405679.2NP_001392608.1  neuroblastoma breakpoint family member 1 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
    UniProtKB/TrEMBL
    A0A494C053
  15. NM_001405680.2NP_001392609.1  neuroblastoma breakpoint family member 1 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
    UniProtKB/Swiss-Prot
    Q3BBV0, Q8N4E8, Q9C0H0, S4R3K2
  16. NM_001405681.2NP_001392610.1  neuroblastoma breakpoint family member 1 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
    UniProtKB/Swiss-Prot
    Q3BBV0, Q8N4E8, Q9C0H0, S4R3K2
  17. NM_001405682.2NP_001392611.1  neuroblastoma breakpoint family member 1 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
    UniProtKB/Swiss-Prot
    Q3BBV0, Q8N4E8, Q9C0H0, S4R3K2
  18. NM_001405683.2NP_001392612.1  neuroblastoma breakpoint family member 1 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
    UniProtKB/Swiss-Prot
    Q3BBV0, Q8N4E8, Q9C0H0, S4R3K2
  19. NM_001405684.2NP_001392613.1  neuroblastoma breakpoint family member 1 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
    UniProtKB/Swiss-Prot
    Q3BBV0, Q8N4E8, Q9C0H0, S4R3K2
  20. NM_001405685.2NP_001392614.1  neuroblastoma breakpoint family member 1 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
    UniProtKB/Swiss-Prot
    Q3BBV0, Q8N4E8, Q9C0H0, S4R3K2
  21. NM_001405686.2NP_001392615.1  neuroblastoma breakpoint family member 1 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
    UniProtKB/Swiss-Prot
    Q3BBV0, Q8N4E8, Q9C0H0, S4R3K2
  22. NM_001405687.2NP_001392616.1  neuroblastoma breakpoint family member 1 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
    UniProtKB/Swiss-Prot
    Q3BBV0, Q8N4E8, Q9C0H0, S4R3K2
  23. NM_001405692.2NP_001392621.1  neuroblastoma breakpoint family member 1 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
    UniProtKB/Swiss-Prot
    Q3BBV0, Q8N4E8, Q9C0H0, S4R3K2
  24. NM_001405693.2NP_001392622.1  neuroblastoma breakpoint family member 1 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
    UniProtKB/Swiss-Prot
    Q3BBV0, Q8N4E8, Q9C0H0, S4R3K2
  25. NM_001405694.2NP_001392623.1  neuroblastoma breakpoint family member 1 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
    UniProtKB/Swiss-Prot
    Q3BBV0, Q8N4E8, Q9C0H0, S4R3K2
  26. NM_001405695.2NP_001392624.1  neuroblastoma breakpoint family member 1 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
    UniProtKB/Swiss-Prot
    Q3BBV0, Q8N4E8, Q9C0H0, S4R3K2
  27. NM_001405696.2NP_001392625.1  neuroblastoma breakpoint family member 1 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
    UniProtKB/Swiss-Prot
    Q3BBV0, Q8N4E8, Q9C0H0, S4R3K2
  28. NM_001405697.2NP_001392626.1  neuroblastoma breakpoint family member 1 isoform 8

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
    UniProtKB/TrEMBL
    A0A494C053
  29. NM_001405698.2NP_001392627.1  neuroblastoma breakpoint family member 1 isoform 9

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
    UniProtKB/Swiss-Prot
    Q3BBV0, Q8N4E8, Q9C0H0, S4R3K2
  30. NM_001405699.2NP_001392628.1  neuroblastoma breakpoint family member 1 isoform 10

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
    UniProtKB/Swiss-Prot
    Q3BBV0, Q8N4E8, Q9C0H0, S4R3K2
  31. NM_001405700.2NP_001392629.1  neuroblastoma breakpoint family member 1 isoform 11

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
    UniProtKB/TrEMBL
    A0A8V8TNX8
  32. NM_001405701.2NP_001392630.1  neuroblastoma breakpoint family member 1 isoform 12

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
    UniProtKB/TrEMBL
    A8K2N7
  33. NM_017940.8NP_060410.4  neuroblastoma breakpoint family member 1 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
    UniProtKB/Swiss-Prot
    Q3BBV0, Q8N4E8, Q9C0H0, S4R3K2
    Related
    ENSP00000474456.1, ENST00000430580.6

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    16562423..16613564 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_025791756.1 Reference GRCh38.p14 PATCHES

    Range
    1198562..1260697
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    16004103..16075615 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)