NBPF14

GENE INFORMATION

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Gene name

NBPF14 (HGNC Symbol)

Synonyms

DJ328E19.C1.1

Description

Neuroblastoma breakpoint family, member 14 (HGNC Symbol)

Entrez gene 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, mental retardation, 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]

Chromosome

1

Cytoband

q21.2

Chromosome location (bp)

148531385 - 148679751

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000270629 (version 78.38)

Entrez gene

25832

UniProt

neXtProt

Antibodypedia

NBPF14 antibodies
 

PROTEIN VIEW

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NBPF14-001
 
NBPF14-002
 
NBPF14-201
 
NBPF14-202
 
NBPF14-203
 
NBPF14-204
 
NBPF14-205
 
NBPF14-206
 
NBPF14-207
 
NBPF14-208
 
NBPF14-209
 
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PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

NBPF14-001 ENSP00000479693
ENST00000619423
Show » 2988 343.2 No 0
NBPF14-002 ENSP00000475918
ENST00000606877
Show » 77 9.2 No 0
NBPF14-201 ENSP00000463341
ENST00000581201
A0A075B757
Show all »
Show » 942 108.7 No 0
NBPF14-202 ENSP00000472124
ENST00000593495
Show » Show » 249 27.3 No 0
NBPF14-203 ENSP00000479380
ENST00000611826
Show » 577 66.9 No 0
NBPF14-204 ENSP00000478050
ENST00000614329
Show » 299 34.1 No 0
NBPF14-205 ENSP00000482693
ENST00000614999
Show » 2819 323.9 No 0
NBPF14-206 ENSP00000479092
ENST00000616120
Show » 299 34.1 No 0
NBPF14-207 ENSP00000478849
ENST00000620240
Show » 535 60.7 No 0
NBPF14-208 ENSP00000478178
ENST00000621066
Show » 921 106.1 No 0
NBPF14-209 ENSP00000481840
ENST00000621070
Show » 867 100.1 No 0