U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

NBPF13P NBPF member 13, pseudogene [ Homo sapiens (human) ]

Gene ID: 644861, updated on 17-Sep-2024

Summary

Go to the top of the page Help
Official Symbol
NBPF13Pprovided by HGNC
Official Full Name
NBPF member 13, pseudogeneprovided by HGNC
Primary source
HGNC:HGNC:31995
See related
AllianceGenome:HGNC:31995
Gene type
pseudo
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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
Restricted expression toward liver (RPKM 11.2) See more
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See NBPF13P in Genome Data Viewer
Location:
1q21.1
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (147099482..147114346, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (147694101..147708959)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (146571066..146585928, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:146556258-146556861 Neighboring gene RNA, variant U1 small nuclear 8 Neighboring gene small RNA binding exonuclease protection factor La like 4, pseudogene Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:146633127-146634326 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1277 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1278 Neighboring gene protein kinase AMP-activated non-catalytic subunit beta 2 Neighboring gene protein disulfide isomerase family A member 3 pseudogene 1 Neighboring gene chromodomain helicase DNA binding protein 1 like

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: HPA RNA-seq normal tissues 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

Go to the top of the pageHelp

Related articles in PubMed

  1. Evolutionary history and genome organization of DUF1220 protein domains. O'Bleness MS, et al. G3 (Bethesda), 2012 Sep. PMID 22973535, Free PMC Article
  2. Genome-wide association study implicates PARD3B-based AIDS restriction. Troyer JL, et al. J Infect Dis, 2011 May 15. PMID 21502085, Free PMC Article
  3. A novel gene family NBPF: intricate structure generated by gene duplications during primate evolution. Vandepoele K, et al. Mol Biol Evol, 2005 Nov. PMID 16079250
  4. Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags. Wang AG, et al. Biochem Biophys Res Commun, 2006 Jul 7. PMID 16712791

GeneRIFs: Gene References Into Functions

Phenotypes

Go to the top of the page Help

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

General gene information

Go to the top of the page Help

Markers

Other Names

  • neuroblastoma breakpoint family member 13, pseudogene

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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.

RNA

  1. NR_103466.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC241584

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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
    147099482..147114346 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    147694101..147708959
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NG_005554.4: Suppressed sequence

    Description
    NG_005554.4: This RefSeq was permanently suppressed because it is now thought that this is a transcribed pseudogene.
Nucleotide Protein
Heading Accession and Version

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Molecular Biology Databases
Research Materials