NBPF14 NBPF member 14 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NBPF14provided by HGNC
Official Full Name: NBPF member 14provided by HGNC
Primary source: HGNC:HGNC:25232
See related: Ensembl:ENSG00000270629 MIM:614003; AllianceGenome:HGNC:25232
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: AE5; NBPF; DJ328E19.C1.1
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 28.2), ovary (RPKM 24.3) and 25 other tissues See more
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Genomic context

Location:: 1q21.2

Exon count:: 71

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (148531385..148596011, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (146192523..146275960)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (146395055..146467744)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study implicates PARD3B-based AIDS restriction. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH66976 (e-PCR)
- UniSTS:88368

G34947 (e-PCR)
- UniSTS:117658

RH80466 (e-PCR)
- UniSTS:92643

AL033815 (e-PCR)
- UniSTS:93680

Gene Ontology Provided by GOA

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

General protein information

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Preferred Names: NBPF family member NBPF14

Names: neuroblastoma breakpoint family member 14

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)

NM_001395631.1 → NP_001382560.1 NBPF family member NBPF14 isoform 2

Status: REVIEWED

Source sequence(s)

AC239811

Consensus CDS

CCDS91039.1

UniProtKB/Swiss-Prot

A0A087WVU4, Q5TI23, Q5TI25, Q8IX76, Q9UJI9

Related

ENSP00000479693.1, ENST00000619423.4

Conserved Domains (1) summary

TIGR02168
Location:11 → 421

SMC_prok_B; chromosome segregation protein SMC, common bacterial type
NM_015383.2 → NP_056198.2 NBPF family member NBPF14 isoform 1

See identical proteins and their annotated locations for NP_056198.2

Status: REVIEWED

Source sequence(s)

AC239811

UniProtKB/TrEMBL

A0A087WZJ2

Related

ENSP00000482693.1, ENST00000614999.4

Conserved Domains (1) summary

pfam06758
Location:1981 → 2043

DUF1220; Repeat of unknown function (DUF1220)