Reviewed,
UniProtKB/Swiss-Prot Q8TBE0 (BAHD1_HUMAN)
Last modified
July 22, 2008.
Version 36.
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Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents
Names and origin
| Protein names | Recommended name: Bromo adjacent homology domain-containing 1 protein Short name(s)=BAH domain-containing protein 1 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 780 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at transcript level. |
Ontologies
Keywords | |
|---|---|
| Coding sequence diversity | Alternative splicing Polymorphism |
Gene Ontology (GO) | |
| None. [Check GOA] | |
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | |||||
| Isoform 1 (identifier: Q8TBE0-1) 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: Q8TBE0-2) The sequence of this isoform differs from the canonical sequence as follows: 478-478: Missing. | |||||
| Isoform 3 (identifier: Q8TBE0-3) The sequence of this isoform differs from the canonical sequence as follows: 685-687: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | ||||
Molecule processing | ||||||||
|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 780 | 780 | Bromo adjacent homology domain-containing 1 protein | |||||
Regions | ||||||||
| Domain | 624 – 779 | 156 | BAH | |||||
| Compositional bias | 239 – 361 | 123 | Pro-rich | |||||
| Compositional bias | 556 – 587 | 32 | Arg-rich | |||||
Natural variations | ||||||||
| Alternative sequence | 478 | 1 | Missing in isoform 2. | |||||
| Alternative sequence | 685 – 687 | 3 | Missing in isoform 3. | |||||
| Natural variant | 26 | 1 | E → G: dbSNP rs3743143. | |||||
| Natural variant | 182 | 1 | D → H: dbSNP rs17856679. | |||||
| Natural variant | 298 | 1 | Q → K: dbSNP rs3803357. | |||||
Sequences
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References
| [1] | "Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 6:63-70(1999) [PubMed: 10231032] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT LYS-298. Tissue: Brain. |
| [2] | "Analysis of the DNA sequence and duplication history of human chromosome 15." Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A.  Nusbaum C.Nature 440:671-675(2006) [PubMed: 16572171] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [3] | "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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS HIS-182 AND LYS-298. Tissue: Pancreas. |
| [4] | The German cDNA consortium Submitted (SEP-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 260-780 (ISOFORM 3), VARIANT LYS-298. Tissue: Testis. |
Cross-references
Sequence databases | |
|---|---|
| AB023162 mRNA. Translation: BAA76789.2. Different initiation. BC022782 mRNA. Translation: AAH22782.1. AC013356 Genomic DNA. No translation available. AL833923 mRNA. Translation: CAD38779.1. | |
| RefSeq | NP_055767.3. |
| UniGene | Hs.22109 |
3D structure databases | |
| ModBase | Search... |
Genome annotation databases | |
| Ensembl | ENSG00000140320. Homo sapiens. [Contig view] |
| GeneID | 22893. |
| KEGG | hsa:22893. |
Organism-specific databases | |
| HGNC | HGNC:29153. BAHD1. |
| PharmGKB | PA128394592. |
| HUGE | Search... |
| GenAtlas | Search... |
| GeneCards | Search... |
| GeneLynx | Search... |
Phylogenomic databases | |
| HOVERGEN | Q8TBE0. |
Gene expression databases | |
| ArrayExpress | Q8TBE0. |
| CleanEx | HS_BAHD1. |
Family and domain databases | |
| InterPro | IPR001025. BAH. [Graphical view] |
| Pfam | PF01426. BAH. 1 hit. [Graphical view] |
| SMART | SM00439. BAH. 1 hit. [Graphical view] |
| PROSITE | PS51038. BAH. 1 hit. [Graphical view] |
| ProDom | Q8TBE0. [Graphical view] [Entries sharing at least one domain] |
| BLOCKS | Search... |
Other Resources | |
| ProtoNet | Search... |
Entry information
| Entry name | BAHD1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q8TBE0 Secondary accession number(s): Q8NDF7, Q9Y2F4 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 15 Human chromosome 15: 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 |
| UniProtKB secondary accession numbers Index of UniProtKB secondary accession numbers |
| SIMILARITY comments Index of protein domains and families |
