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NBPF20 NBPF member 20 [ Homo sapiens (human) ]

Gene ID: 100288142, updated on 21-Dec-2022

Summary

Official Symbol
NBPF20provided by HGNC
Official Full Name
NBPF member 20provided by HGNC
Primary source
HGNC:HGNC:32000
See related
Ensembl:ENSG00000162825 MIM:614007; AllianceGenome:HGNC:32000
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
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 2014]
Expression
Ubiquitous expression in testis (RPKM 6.6), skin (RPKM 5.6) and 25 other tissues See more
Orthologs
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Genomic context

See NBPF20 in Genome Data Viewer
Location:
1q21.1
Exon count:
145
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (145289900..145425603, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (144414641..144542479, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 (PATCHES) NW_003871055.3 (2105313..2241016, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101060170 Neighboring gene RNA, variant U1 small nuclear 14 Neighboring gene tRNA-Asn (anticodon GTT) 2-7 Neighboring gene profilin 1 pseudogene 3 Neighboring gene uncharacterized LOC105371288 Neighboring gene RNA, U1 small nuclear 154, pseudogene Neighboring gene tRNA-Gln (anticodon CTG) 3-1

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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 20

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.

Genomic

  1. NG_034048.2 RefSeqGene

    Range
    5000..140598
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001278267.1NP_001265196.1  neuroblastoma breakpoint family member 20 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC245014
    UniProtKB/Swiss-Prot
    Q3BBW0
    UniProtKB/TrEMBL
    A0A087WVA0
    Conserved Domains (1) summary
    pfam06758
    Location:46284693
    DUF1220; Repeat of unknown function (DUF1220)
  2. NM_001397211.1NP_001384140.1  neuroblastoma breakpoint family member 20 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC239860, AC245014
    Consensus CDS
    CCDS91033.1
    UniProtKB/TrEMBL
    A0A8V8TMC1
    Related
    ENSP00000513969.1, ENST00000698833.1

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
    145289900..145425603 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047445970.1XP_047301926.1  neuroblastoma breakpoint family member 20 isoform X1

  2. XM_047446015.1XP_047301971.1  neuroblastoma breakpoint family member 20 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    144414641..144542479 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)