NBPF4:Neuroblastoma breakpoint family member 4

Gene Name
Neuroblastoma breakpoint family member 4
Protein ID
Q96M43
Chromosome ID
1
HPP Status
2
Protein Name
Neuroblastoma breakpoint family member 4
Synonyms

neuroblastoma breakpoint family member 4

neuroblastoma breakpoint family, member 4


[Reference: http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF4 ]
Chromosomal Position
1p13.3 | Start:108223341 End:108223341
Sequence
Q96M43.fasta
Description

Entrez Gene Summary for NBPF4
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, Mar 2013)

[Reference: http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF4 ]
External IDs
Hgnc ID: 26550 EntrezGene ID: 148545 Ensembl ID: ENSG00000196427
[Reference: http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF4 ]
Reference Source
http://www.nextprot.org

OMICSDI Browser



Relevant citations within the PubMed literature

         

Putative/known Functions



Localisation



Homologues, Orthologues, Paralogues and Family



Sequence Similarity and Functional Annotation


Sequence Similarity

Db NameQuery UniSubject UniSequence LengthAlignment LengthIdentityCoverageMismatchesGap OpeningsQuery StartQuery EndSubject StartSubject EndEvalueBit Score
Reviewed non-human mammalian with experimental evidenceNBPF4_HUMANMYOME_RAT6383855.265.961702461121712546.00E-0649
Reference
Islam MT, Garg G, Hancock WS, Risk BA, Baker MS, Ranganathan S (2014) Protannotator: A Semiautomated Pipeline for Chromosome-Wise Functional Annotation of the "Missing" Human Proteome. J Proteome Res. 13, 76-83.

Post Translational Modifications



Protein Protein Interactions



Best Available Mass Spectra without FDR




PRIDE

Peptide SequenceScoresPride IDSpectrum IDAnnotation
No results found.
Evidence File
/mnt/mpp/ms_data/Q96M43_pridedb.txt
Reference
Vizcaino JA, et al. 2016 update of the PRIDE database and related tools. Nucleic Acids Res. 2016 Jan 1;44(D1):D447-D456.
https://www.ebi.ac.uk/pride/archive/ ">PRIDE Archive


Proteomics DB

Evidence File
/mnt/mpp/ms_data/Q96M43_protdb.txt
Reference
Wilhelm, M et al. (2014) Mass-spectrometry-based draft of the human proteome. Nature. 509:582-7.
https://www.proteomicsdb.org/ ">Proteomics DB