Version 5.4
| Homo sapiens Gene: NBPF3 | |||||||||||||||||||
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| Summary | |||||||||||||||||||
| InnateDB Gene | IDBG-93149.6 | ||||||||||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
| Gene Symbol | NBPF3 | ||||||||||||||||||
| Gene Name | neuroblastoma breakpoint family, member 3 | ||||||||||||||||||
| Synonyms | |||||||||||||||||||
| Species | Homo sapiens | ||||||||||||||||||
| Ensembl Gene | ENSG00000142794 | ||||||||||||||||||
| Encoded Proteins |
neuroblastoma breakpoint family, member 3
neuroblastoma breakpoint family, member 3
neuroblastoma breakpoint family, member 3
neuroblastoma breakpoint family, member 3
neuroblastoma breakpoint family, member 3
neuroblastoma breakpoint family, member 3
neuroblastoma breakpoint family, member 3
neuroblastoma breakpoint family, member 3
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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. DUF1220 copy number variations in 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, Feb 2013] |
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| Gene Information | |||||||||||||||||||
| Type | Protein coding | ||||||||||||||||||
| Genomic Location | Chromosome 1:21440128-21485005 | ||||||||||||||||||
| Strand | Forward strand | ||||||||||||||||||
| Band | p36.12 | ||||||||||||||||||
| Transcripts | |||||||||||||||||||
| Interactions | |||||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 7 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 | Q9H094 | ||||||||||||||||||
| TrEMBL | X6RCV0 | ||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||
| Entrez Gene | 84224 | ||||||||||||||||||
| UniGene | Hs.325422 Hs.733254 Hs.735164 | ||||||||||||||||||
| RefSeq | NM_032264 NM_001256416 NM_001256417 | ||||||||||||||||||
| HUGO | HGNC:25076 | ||||||||||||||||||
| OMIM | 612992 | ||||||||||||||||||
| CCDS | CCDS216 CCDS57976 CCDS57977 | ||||||||||||||||||
| HPRD | 10633 | ||||||||||||||||||
| IMGT | |||||||||||||||||||
| EMBL | AF379629 AK292580 AK299840 AL136890 AL592309 AL834330 AY598326 AY894564 BC024011 | ||||||||||||||||||
| GenPept | AAH24011 AAO15397 AAT06737 AAX85103 BAF85269 BAG61704 CAB66824 CAD38998 CAH72075 CAH72077 CAH72078 | ||||||||||||||||||
| RNA Seq Atlas | 84224 | ||||||||||||||||||