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NBPF15 NBPF member 15 [ Homo sapiens (human) ]

Gene ID: 284565, updated on 5-Aug-2018

Summary

Official Symbol
NBPF15provided by HGNC
Official Full Name
NBPF member 15provided by HGNC
Primary source
HGNC:HGNC:28791
See related
Ensembl:ENSG00000266338 MIM:610414; MIM:614005; Vega:OTTHUMG00000013634
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AG3; AB14; NBPF16
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, May 2013]
Expression
Ubiquitous expression in skin (RPKM 18.7), lymph node (RPKM 18.0) and 25 other tissues See more

Genomic context

See NBPF15 in Genome Data Viewer
Location:
1q21.1
Exon count:
22
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (144421386..144459464, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (148555986..148596267)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373467 Neighboring gene uncharacterized LOC101060207 Neighboring gene RNA, variant U1 small nuclear 15 Neighboring gene transfer RNA-Asn (GTT) 3-1 Neighboring gene profilin 1 pseudogene 6 Neighboring gene uncharacterized LOC105371211 Neighboring gene RNA, variant U1 small nuclear 11

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 Jun 15 11:32:44 2016

Bibliography

Related articles in PubMed

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC8902, FLJ59046, FLJ78393

Gene Ontology Provided by GOA

Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
neuroblastoma breakpoint family member 15
Names
neuroblastoma breakpoint family, member 16

NCBI Reference Sequences (RefSeq)

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_001170755.2NP_001164226.1  neuroblastoma breakpoint family member 15

    See identical proteins and their annotated locations for NP_001164226.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein. This variant may include additional exon structure in the 5' UTR, but alternative splicing choices are present further upstream, and there are no 5' complete transcripts representing this variant.
    Source sequence(s)
    AC246785, AK097180, AK299360, BC023087, DB300232
    Consensus CDS
    CCDS72852.1
    UniProtKB/Swiss-Prot
    Q8N660
    UniProtKB/TrEMBL
    B4DRP3
    Related
    ENSP00000462600.1, ENST00000577412.5
    Conserved Domains (1) summary
    pfam06758
    Location:490552
    DUF1220; Repeat of unknown function (DUF1220)
  2. NM_173638.4NP_775909.2  neuroblastoma breakpoint family member 15

    See identical proteins and their annotated locations for NP_775909.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein. This variant may include additional exon structure in the 5' UTR, but alternative splicing choices are present further upstream, and there are no 5' complete transcripts representing this variant.
    Source sequence(s)
    AC246785, AK299360, BC023087, DB300232
    Consensus CDS
    CCDS72852.1
    UniProtKB/Swiss-Prot
    Q8N660
    UniProtKB/TrEMBL
    B4DRP3
    Related
    ENSP00000463178.1, ENST00000581897.6
    Conserved Domains (1) summary
    pfam06758
    Location:490552
    DUF1220; Repeat of unknown function (DUF1220)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    144421386..144459464 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001102663.1: Suppressed sequence

    Description
    NM_001102663.1: This RefSeq was temporarily suppressed because the CDS was partial.
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