NBPF6

Protein identityUniProt · HPA

UniProt accession

Q5VWK0

Gene

NBPF6

Ensembl

ENSG00000186086

Chromosome

1

Canonical length

638 aa

Protein class

Predicted intracellular proteins

Subcellular location

Nucleoplasm,Cytosol

OverviewNCBI Gene

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. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2013]

Canonical amino-acid sequenceUniProt

638 residues, UniProt reviewed canonical sequence.

>Q5VWK0|NBPF6
     1  MVVSADPLSS ERAEMNILEI NQELRSQLAE SNQQFRDLKE KFLITQATAY SLANQLKKYK
    61  CEEYKDIIDS VLRDELQSME KLAEKLRQAE ELRQYKALVH SQAKELTQLR EKLREGRDAS
   121  RWLNKHLKTL LTPDDPDKSQ GQDLREQLAE GHRLAEHLVH KLSPENDEDE DEDEDDKDEE
   181  VEKVQESPAP REVQKTEEKE VPQDSLEECA VTCSNSHNPS NSNQPHRSTK ITFKEHEVDS
   241  ALVVESEHPH DEEEEALNIP PENQNDHEEE EGKAPVPPRH HDKSNSYRHR EVSFLALDEQ
   301  KVCSAQDVAR DYSNPKWDET SLGFLEKQSD LEEVKGQETV APRLSRGPLR VDKHEIPQES
   361  LDGCCLTPSI LPDLTPSYHP YWSTLYSFED KQVSLALVDK IKKDQEEIED QSPPCPRLSQ
   421  ELPEVKEQEV PEDSVNEVYL TPSVHHDVSD CHQPYSSTLS SLEDQLACSA LDVASPTEAA
   481  CPQGTWSGDL SHHRSEVQIS QAQLEPSTLV PSCLRLQLDQ GFHCGNGLAQ RGLSSTTCSF
   541  SANADSGNQW PFQELVLEPS LGMKNPPQLE DDALEGSASN TQGRQVTGRI RASLVLILKT
   601  IRRRLPFSKW RLAFRFAGPH AESAEIPNTA ERMQRMIG

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NBPF6 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.65

Highest tissue expression

2.6 nTPM

Expression across tissuesHPA

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.61

gnomAD pLI

0.01

gnomAD missense Z

-0.38

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Cellular components

• cytoplasm

Protein domainsUniProt · Pfam · InterPro

• Olduvai domain
• NBPF
• Olduvai domain

KeywordsUniProt

• Coiled coil
• Cytoplasm
• Repeat