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NBPF1 NBPF member 1 [ Homo sapiens (human) ]

Gene ID: 55672, updated on 11-Jun-2021

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
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:
28
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (16562323..16613564, complement)
105.20201022 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 uncharacterized LOC105376794 Neighboring gene CROCC pseudogene 2 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)

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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_017940.6NP_060410.3  neuroblastoma breakpoint family member 1

    Status: VALIDATED

    Source sequence(s)
    AB051480, AI076757, AL355149, AY894575, BC034418, CR747312, DA320506, DA324740, DA325316, DA810196, DB094545
    Related
    ENSP00000474456.1, ENST00000430580.6
    Conserved Domains (3) summary
    COG0419
    Location:282672
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    PRK04863
    Location:22162
    mukB; chromosome partition protein MukB
    pfam06758
    Location:9531018
    DUF1220; Repeat of unknown function (DUF1220)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

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