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)

148003642 - 148025863

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000122497 (version 75.37)

Entrez gene

25832

UniProt

Q5TI25 (UniProt - Evidence at transcript level)

neXtProt

NX_Q5TI25

Antibodypedia

NBPF14 antibodies
 

PROTEIN VIEW

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NBPF14-001
 
NBPF14-002
 
NBPF14-003
 
NBPF14-004
 
NBPF14-005
 
NBPF14-006
 
NBPF14-007
 
NBPF14-008
 
NBPF14-201
 
 
 
 
 

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 ENSP00000309907
ENST00000310701
H7BYX2
Show all »
Show » 927 106.4 No 0
NBPF14-002 ENSP00000396201
ENST00000426874
H7BYX2
Show all »
512 58.6 No 0
NBPF14-003 ENSP00000397707
ENST00000444640
H7BYX2
Show all »
512 58.6 No 0
NBPF14-004 ENSP00000403155
ENST00000431121
H7BYX2
Show all »
512 58.6 No 0
NBPF14-005 ENSP00000411975
ENST00000436356
H7BYX2
Show all »
512 58.6 No 0
NBPF14-006 ENSP00000416860
ENST00000448574
H7BYX2
Show all »
512 58.6 No 0
NBPF14-007 ENSP00000410336
ENST00000458135
H7BYX2
Show all »
512 58.6 No 0
NBPF14-008 ENSP00000376698
ENST00000392972
H7BYX2
Show all »
512 58.6 No 0
NBPF14-201 ENSP00000358221
ENST00000369219
Q5TI25
Show all »
Show » 921 105.9 No 0