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NBPF4 NBPF member 4 [ Homo sapiens (human) ]

Gene ID: 148545, updated on 11-Jun-2021

Summary

Official Symbol
NBPF4provided by HGNC
Official Full Name
NBPF member 4provided by HGNC
Primary source
HGNC:HGNC:26550
See related
Ensembl:ENSG00000196427 MIM:613994
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
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, Mar 2013]
Expression
Biased expression in testis (RPKM 3.9), small intestine (RPKM 0.8) and 2 other tissues See more
Orthologs
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Genomic context

See NBPF4 in Genome Data Viewer
Location:
1p13.3
Exon count:
16
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (108222464..108244076, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (108765963..108786703, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2785 Neighboring gene solute carrier family 25 member 24 Neighboring gene Sharpr-MPRA regulatory region 7876 Neighboring gene SLC25A24 pseudogene 1 Neighboring gene NBPF member 5, pseudogene

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

General gene information

Markers

Homology

Clone Names

  • FLJ32833

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
neuroblastoma breakpoint family member 4

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_001143989.3NP_001137461.1  neuroblastoma breakpoint family member 4

    See identical proteins and their annotated locations for NP_001137461.1

    Status: REVIEWED

    Source sequence(s)
    AK057395, AK316438, AL359258, DC402863
    Consensus CDS
    CCDS44182.1
    UniProtKB/Swiss-Prot
    Q96M43
    UniProtKB/TrEMBL
    B7ZAX3
    Related
    ENSP00000389237.2, ENST00000415641.8
    Conserved Domains (1) summary
    pfam06758
    Location:410472
    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
    108222464..108244076 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011540763.1XP_011539065.1  neuroblastoma breakpoint family member 4 isoform X1

    UniProtKB/TrEMBL
    A0A087WVM6
    Related
    ENSP00000479545.1, ENST00000613157.2
    Conserved Domains (1) summary
    pfam06758
    Location:439501
    DUF1220; Repeat of unknown function (DUF1220)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_017852928.1 Reference GRCh38.p13 PATCHES

    Range
    462101..483576
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_152488.1: Suppressed sequence

    Description
    NM_152488.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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