Q9H094 (NBPF3_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 78.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Neuroblastoma breakpoint family member 3 Alternative name(s): Protein AE2 Protein SHIIIa4 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 633 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at transcript level |
General annotation (Comments)
| Subcellular location | Cytoplasm Probable. |
| Tissue specificity | Expressed in testis and fetal heart, as well as in non small cell lung carcinoma and neuroblastoma cell line. Ref.2 |
| Miscellaneous | Encoded by one of the numerous copies of NBPF genes clustered in the p36, p12 and q21 region of the chromosome 1. |
| Sequence similarities | Belongs to the NBPF family. Contains 5 NBPF domains. |
| Sequence caution | The sequence AAH24011.1 differs from that shown. Reason: Frameshift at position 252. The sequence CAH72077.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAH72078.1 differs from that shown. Reason: Erroneous gene model prediction. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cytoplasm |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Coiled coil Repeat |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Cellular_component | cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell |
| Complete GO annotation... | |
Alternative products
| This entry describes 5 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q9H094-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: Q9H094-2) The sequence of this isoform differs from the canonical sequence as follows: 1-56: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: Q9H094-3) The sequence of this isoform differs from the canonical sequence as follows: 331-331: R → RSSGRFCCLISVGYIFCHPCPAWLIR 350-386: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 4 (identifier: Q9H094-4) The sequence of this isoform differs from the canonical sequence as follows: 1-358: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 5 (identifier: Q9H094-5) The sequence of this isoform differs from the canonical sequence as follows: 45-114: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 633 | 633 | Neuroblastoma breakpoint family member 3 | PRO_0000288038 | |||||
Regions | |||||||||
| Domain | 221 – 313 | 93 | NBPF 1 | ||||||
| Domain | 314 – 402 | 89 | NBPF 2 | ||||||
| Domain | 405 – 460 | 56 | NBPF 3 | ||||||
| Domain | 461 – 552 | 92 | NBPF 4 | ||||||
| Domain | 555 – 633 | 79 | NBPF 5 | ||||||
| Coiled coil | 127 – 186 | 60 | Potential | ||||||
| Compositional bias | 335 – 340 | 6 | Poly-Glu | ||||||
| Compositional bias | 467 – 470 | 4 | Poly-Glu | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 358 | 358 | Missing in isoform 4. | VSP_025625 | |||||
| Alternative sequence | 1 – 56 | 56 | Missing in isoform 2. | VSP_025626 | |||||
| Alternative sequence | 45 – 114 | 70 | Missing in isoform 5. | VSP_044705 | |||||
| Alternative sequence | 331 | 1 | R → RSSGRFCCLISVGYIFCHPC PAWLIR in isoform 3. | VSP_025627 | |||||
| Alternative sequence | 350 – 386 | 37 | Missing in isoform 3. | VSP_025628 | |||||
| Natural variant | 114 | 1 | Y → C. Ref.7 Corresponds to variant rs1827293 [ dbSNP | Ensembl ]. | VAR_032374 | |||||
| Natural variant | 198 | 1 | R → Q. Corresponds to variant rs16825377 [ dbSNP | Ensembl ]. | VAR_053909 | |||||
| Natural variant | 444 | 1 | D → E. Ref.4 Ref.7 Corresponds to variant rs12043777 [ dbSNP | Ensembl ]. | VAR_047965 | |||||
| Natural variant | 459 | 1 | L → V. Ref.4 Ref.7 Corresponds to variant rs12034222 [ dbSNP | Ensembl ]. | VAR_032375 | |||||
Experimental info | |||||||||
| Sequence conflict | 70 | 1 | E → Q in AAX85103. Ref.2 | ||||||
| Sequence conflict | 78 | 1 | K → T in AAX85103. Ref.2 | ||||||
| Sequence conflict | 263 | 1 | C → Y in AAH24011. Ref.7 | ||||||
| Sequence conflict | 429 – 430 | 2 | FE → CG in BAG61704. Ref.4 | ||||||
| Sequence conflict | 429 – 430 | 2 | FE → CG in AAH24011. Ref.7 | ||||||
| Sequence conflict | 548 | 1 | K → N in BAG61704. Ref.4 | ||||||
| Sequence conflict | 548 | 1 | K → N in CAD38998. Ref.5 | ||||||
| Sequence conflict | 548 | 1 | K → N in AAH24011. Ref.7 | ||||||
| Sequence conflict | 564 | 1 | P → A in CAD38998. Ref.5 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Suppression subtractive hybridization and expression profiling identifies a unique set of genes overexpressed in non-small-cell lung cancer." Petroziello J., Yamane A., Westendorf L., Thompson M., McDonagh C., Cerveny C., Law C.-L., Wahl A., Carter P. Oncogene 23:7734-7745(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). |
| [2] | "A novel gene family NBPF: intricate structure generated by gene duplications during primate evolution." Vandepoele K., Van Roy N., Staes K., Speleman F., van Roy F. Mol. Biol. Evol. 22:2265-2274(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), TISSUE SPECIFICITY. |
| [3] | "Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs." Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. Poustka A.Genome Res. 11:422-435(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Testis. |
| [4] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 5), VARIANTS GLU-444 AND VAL-459. Tissue: Brain and Testis. |
| [5] | "The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4). Tissue: Testis. |
| [6] | "The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. Bentley D.R.Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [7] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), VARIANTS CYS-114; GLU-444 AND VAL-459. Tissue: Testis. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AY598326 mRNA. Translation: AAT06737.1. AF379629 mRNA. Translation: AAO15397.1. AY894564 mRNA. Translation: AAX85103.1. AK292580 mRNA. Translation: BAF85269.1. AK299840 mRNA. Translation: BAG61704.1. AL136890 mRNA. Translation: CAB66824.1. AL834330 mRNA. Translation: CAD38998.2. AL592309 Genomic DNA. Translation: CAH72075.1. AL592309 Genomic DNA. Translation: CAH72077.1. Sequence problems. AL592309 Genomic DNA. Translation: CAH72078.1. Sequence problems. BC024011 mRNA. Translation: AAH24011.1. Frameshift. |
| IPI | IPI00031055. IPI00385628. IPI00847488. IPI00848273. |
| RefSeq | NP_001243345.1. NM_001256416.2. NP_001243346.1. NM_001256417.2. NP_115640.1. NM_032264.4. |
| UniGene | Hs.325422. |
3D structure databases | |
| ProteinModelPortal | Q9H094. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q9H094. 2 interactions. |
| MINT | MINT-1448002. |
PTM databases | |
| PhosphoSite | Q9H094. |
Polymorphism databases | |
| DMDM | 74733518. |
Proteomic databases | |
| PaxDb | Q9H094. |
| PRIDE | Q9H094. |
Protocols and materials databases | |
| DNASU | 84224. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000318220; ENSP00000316739; ENSG00000142794. ENST00000318249; ENSP00000316782; ENSG00000142794. ENST00000342104; ENSP00000340336; ENSG00000142794. ENST00000434838; ENSP00000391865; ENSG00000142794. ENST00000454000; ENSP00000415711; ENSG00000142794. |
| GeneID | 84224. |
| KEGG | hsa:84224. |
| UCSC | uc001ber.3. human. uc009vqb.3. human. |
Organism-specific databases | |
| CTD | 84224. |
| GeneCards | GC01P021766. |
| H-InvDB | HIX0000224. HIX0023154. |
| HGNC | HGNC:25076. NBPF3. |
| MIM | 612992. gene. |
| neXtProt | NX_Q9H094. |
| PharmGKB | PA142671283. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG243407. |
| HOVERGEN | HBG058300. |
| InParanoid | Q9H094. |
| OMA | EDCKDLI. |
| PhylomeDB | Q9H094. |
Gene expression databases | |
| ArrayExpress | Q9H094. |
| Bgee | Q9H094. |
| CleanEx | HS_NBPF3. |
| Genevestigator | Q9H094. |
Family and domain databases | |
| InterPro | IPR010630. NBPF_dom. [Graphical view] |
| Pfam | PF06758. DUF1220. 5 hits. [Graphical view] |
| PROSITE | PS51316. NBPF. 5 hits. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 84224. |
| NextBio | 73664. |
| SOURCE | Search... |
Entry information
| Entry name | NBPF3_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9H094 Secondary accession number(s): A8K965 Q8TC96 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 1 Human chromosome 1: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
