Search results:
General Information
| Gene_Symbol | Gene_ID | Gene_Name | Chromosome | Alias |
|---|---|---|---|---|
| NBPF1 | 55672 | neuroblastoma breakpoint family, member 1 | 1 | FLJ20719, KIAA1693 |
- Evidence
- Gene
- mRNA
- CDS
- Protein
- PTM
- Enzyme
- PPi
- Pathway
- Structural
- Domain
- Ontology
- SNP
- Drug
- External Links
Evidence Information
| Pubmed ID | Year | Sample Information | Techniques | Mechanism | Fold Change | Remark |
|---|---|---|---|---|---|---|
| 25958384 | 2015 | Cell line : DLD1 Source : - Sample Type : - No. of Sample : - Stage : - | Immunohistochemistry, flow cytometry,real-time quantitative RT-PCR,western blotting Immunofluorescence and by a loss-of-function approach and LC-MS/MS analysis. | Down-regulation | - | - |
Gene Details
| Gene Type | protein coding |
|---|---|
| Gene Family | neuroblastoma breakpoint family |
| Description | 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, Apr 2013] | Chromosome | 1 |
| Location | 1p36.13 |
| Start | 16888922 |
| End | 16940100 |
| Strand | - |
| Gene Sequence | Download Select all |
| Length | 51179 |
| OMIM ID | 610501 |
| HGNC ID | HGNC:26088 |
| Unigene ID | Hs.467587 |
| Ensembl ID | ENSG00000219481 |
| PharmGKB ID | PA128395786 |
Protein Information
| Protein ID | NP_060410.2 |
|---|---|
| Protein Name | neuroblastoma breakpoint family, member 1 |
| Molecular Wt. (Da) | 0 |
| Protein Sequence | Download Select all |
| Length | 1214 |
| Uniprot ID | Q9HAU4 |
| Ensembl Protein ID | ENSP00000262435 |
Post-translational Modification Information (Source : HPRD)
No matching records could be found.
Enzyme Information
No matching records could be found.
PPi Information
No STRING Network could be found.
No matching records from HPRD source could be found.
Pathway Information
No matching records could be found.
Structure Information
No matching records could be found.
Domain Information
| ID | Location | Description |
|---|---|---|
| pfam06758 | 1030-1096 | DUF1220 |
| cl06016 | 1030-1096 | DUF1220 superfamily |
| pfam06758 | 1127-1191 | DUF1220 |
| cl06016 | 1127-1191 | DUF1220 superfamily |
| pfam06758 | 955-1021 | DUF1220 |
| cl06016 | 955-1021 | DUF1220 superfamily |
| pfam06758 | 880-946 | DUF1220 |
| cl06016 | 880-946 | DUF1220 superfamily |
| pfam06758 | 722-782 | DUF1220 |
| cl06016 | 722-782 | DUF1220 superfamily |
| pfam06758 | 451-514 | DUF1220 |
| cl06016 | 451-514 | DUF1220 superfamily |
| pfam06758 | 180-243 | DUF1220 |
| cl06016 | 180-243 | DUF1220 superfamily |
| pfam06758 | 811-871 | DUF1220 |
| cl06016 | 811-871 | DUF1220 superfamily |
| COG0419 | 279-672 | SbcC |
| PTZ00121 | 324-744 | PTZ00121 |
| PTZ00121 | 293-738 | PTZ00121 |
| PTZ00121 | 75-748 | PTZ00121 |
| TIGR02168 | 22-692 | SMC_prok_B |
| PRK04863 | 22-150 | mukB |
| PTZ00121 | 29-473 | PTZ00121 |
Ontology Information
| HPRD ID | 16391 |
|---|---|
| Molecular Class | Unclassified |
| Molecular Function | Transcription factor activity (GO:0003700) |
| Biological Process | Regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolism (GO:0019219) |
Drug Information
No matching records could be found.