Version 5.4
| Homo sapiens Gene: NBPF6 | |||||||||||
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| Summary | |||||||||||
| InnateDB Gene | IDBG-100659.6 | ||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||
| Gene Symbol | NBPF6 | ||||||||||
| Gene Name | neuroblastoma breakpoint family, member 6 | ||||||||||
| Synonyms | |||||||||||
| Species | Homo sapiens | ||||||||||
| Ensembl Gene | ENSG00000186086 | ||||||||||
| Encoded Proteins |
neuroblastoma breakpoint family, member 6
neuroblastoma breakpoint family, member 6
neuroblastoma breakpoint family, member 6
neuroblastoma breakpoint family, member 6
neuroblastoma breakpoint family, member 6
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| Protein Structure |
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| Useful resources | Stemformatics EHFPI ImmGen | ||||||||||
| 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. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2013] |
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| Gene Information | |||||||||||
| Type | Protein coding | ||||||||||
| Genomic Location | Chromosome 1:108375799-108471002 | ||||||||||
| Strand | Forward strand | ||||||||||
| Band | p13.3 | ||||||||||
| Transcripts |
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| Interactions | |||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
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| Gene Ontology | |||||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Orthologs | |||||||||||
| No orthologs found for this gene | |||||||||||
| Cross-References | |||||||||||
| SwissProt | Q5VWK0 | ||||||||||
| TrEMBL | |||||||||||
| UniProt Splice Variant | |||||||||||
| Entrez Gene | 653149 | ||||||||||
| UniGene | Hs.712226 | ||||||||||
| RefSeq | NM_001143987 NM_001143988 XM_005271144 | ||||||||||
| HUGO | HGNC:31988 | ||||||||||
| OMIM | 613996 | ||||||||||
| CCDS | CCDS44184 | ||||||||||
| HPRD | |||||||||||
| IMGT | |||||||||||
| EMBL | AL390038 AL392088 BC125161 BX323851 BX649306 | ||||||||||
| GenPept | AAI25162 CAH70399 CAI23469 | ||||||||||
| RNA Seq Atlas | 653149 | ||||||||||