U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

NBPF1 NBPF member 1 [ Homo sapiens (human) ]

Gene ID: 55672, updated on 18-Sep-2022

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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See NBPF1 in Genome Data Viewer
Location:
1p36.13
Exon count:
28
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (16562323..16613564, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (16603252..16656036)
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 CROCC pseudogene 2 Neighboring gene rootletin-like 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

Homology

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_001405666.2NP_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
  3. NM_001405668.2NP_001392597.1  neuroblastoma breakpoint family member 1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
  4. NM_001405669.2NP_001392598.1  neuroblastoma breakpoint family member 1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
  5. NM_001405670.2NP_001392599.1  neuroblastoma breakpoint family member 1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
  6. NM_001405671.2NP_001392600.1  neuroblastoma breakpoint family member 1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
  7. NM_001405672.2NP_001392601.1  neuroblastoma breakpoint family member 1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
  8. NM_001405673.2NP_001392602.1  neuroblastoma breakpoint family member 1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
  9. NM_001405674.2NP_001392603.1  neuroblastoma breakpoint family member 1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
  10. NM_001405675.2NP_001392604.1  neuroblastoma breakpoint family member 1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
  11. NM_001405676.2NP_001392605.1  neuroblastoma breakpoint family member 1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
  12. NM_001405677.2NP_001392606.1  neuroblastoma breakpoint family member 1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
  13. NM_001405678.2NP_001392607.1  neuroblastoma breakpoint family member 1 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
  14. NM_001405679.2NP_001392608.1  neuroblastoma breakpoint family member 1 isoform 5

    Status: VALIDATED

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

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
  16. NM_001405681.2NP_001392610.1  neuroblastoma breakpoint family member 1 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
  17. NM_001405682.2NP_001392611.1  neuroblastoma breakpoint family member 1 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
  18. NM_001405683.2NP_001392612.1  neuroblastoma breakpoint family member 1 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
  19. NM_001405684.2NP_001392613.1  neuroblastoma breakpoint family member 1 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
  20. NM_001405685.2NP_001392614.1  neuroblastoma breakpoint family member 1 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
  21. NM_001405686.2NP_001392615.1  neuroblastoma breakpoint family member 1 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
  22. NM_001405687.2NP_001392616.1  neuroblastoma breakpoint family member 1 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
  23. NM_001405692.2NP_001392621.1  neuroblastoma breakpoint family member 1 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
  24. NM_001405693.2NP_001392622.1  neuroblastoma breakpoint family member 1 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
  25. NM_001405694.2NP_001392623.1  neuroblastoma breakpoint family member 1 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
  26. NM_001405695.2NP_001392624.1  neuroblastoma breakpoint family member 1 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
  27. NM_001405696.2NP_001392625.1  neuroblastoma breakpoint family member 1 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
  28. NM_001405697.2NP_001392626.1  neuroblastoma breakpoint family member 1 isoform 8

    Status: VALIDATED

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

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
  30. NM_001405699.2NP_001392628.1  neuroblastoma breakpoint family member 1 isoform 10

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
  31. NM_001405700.2NP_001392629.1  neuroblastoma breakpoint family member 1 isoform 11

    Status: VALIDATED

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

    Status: VALIDATED

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

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
    Related
    ENSP00000474456.1, ENST00000430580.6

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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
    16562323..16613564 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_025791756.1 Reference GRCh38.p14 PATCHES

    Range
    1198562..1260797
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    16603252..16656036
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)