Reviewed,
UniProtKB/Swiss-Prot Q9BXX2 (AN30B_HUMAN)
Last modified
June 16, 2009.
Version 38.
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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: Ankyrin repeat domain-containing protein 30B Alternative name(s): Serologically defined breast cancer antigen NY-BR-1.1 | ||
| Gene names |
| ||
| 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 | 1477 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at transcript level. |
General annotation (Comments)
| Tissue specificity | Expressed in brain, breast and testis. Ref.3 |
| Sequence similarities | Contains 5 ANK repeats. |
| Sequence caution | The sequence AAK27326.1 differs from that shown. Reason: Frameshift at position 120. |
Ontologies
| Keywords | |
|---|---|
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | ANK repeat Coiled coil Repeat |
| Gene Ontology (GO) | |
| None. [Check GOA] | |
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q9BXX2-1) 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: Q9BXX2-2) The sequence of this isoform differs from the canonical sequence as follows: 609-619: ESPVKDGLLKP → AYLWKESFSSK 620-1477: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: Q9BXX2-3) The sequence of this isoform differs from the canonical sequence as follows: 643-727: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1477 | 1477 | Ankyrin repeat domain-containing protein 30B | PRO_0000328838 | |||||
Regions | |||||||||
| Repeat | 72 – 101 | 30 | ANK 1 | ||||||
| Repeat | 105 – 134 | 30 | ANK 2 | ||||||
| Repeat | 138 – 167 | 30 | ANK 3 | ||||||
| Repeat | 171 – 200 | 30 | ANK 4 | ||||||
| Repeat | 204 – 233 | 30 | ANK 5 | ||||||
| Coiled coil | 1045 – 1253 | 209 | Potential | ||||||
| Coiled coil | 1355 – 1465 | 111 | Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 609 – 619 | 11 | ESPVKDGLLKP → AYLWKESFSSK in isoform 2. | VSP_032812 | |||||
| Alternative sequence | 620 – 1477 | 858 | Missing in isoform 2. | VSP_032813 | |||||
| Alternative sequence | 643 – 727 | 85 | Missing in isoform 3. | VSP_032814 | |||||
| Natural variant | 375 | 1 | V → M: dbSNP rs9748611. | VAR_042540 | |||||
| Natural variant | 477 | 1 | F → L: dbSNP rs9675365. | VAR_042541 | |||||
Experimental info | |||||||||
| Sequence conflict | 248 | 1 | C → R in AAK27326. Ref.3 | ||||||
| Sequence conflict | 438 | 1 | F → L in AAH28407. Ref.2 | ||||||
| Sequence conflict | 766 | 1 | K → N in AAK27326. Ref.3 | ||||||
| Sequence conflict | 775 | 1 | V → G in AAK27326. Ref.3 | ||||||
| Sequence conflict | 793 | 1 | L → F in AAK27326. Ref.3 | ||||||
| Sequence conflict | 821 | 1 | A → T in AAK27326. Ref.3 | ||||||
| Sequence conflict | 827 | 1 | G → V in AAK27326. Ref.3 | ||||||
| Sequence conflict | 1062 | 1 | T → M in AAK27326. Ref.3 | ||||||
| Sequence conflict | 1100 | 1 | T → P in AAK27326. Ref.3 | ||||||
| Sequence conflict | 1132 | 1 | Q → H in AAK27326. Ref.3 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "DNA sequence and analysis of human chromosome 18." Nusbaum C., Zody M.C., Borowsky M.L., Kamal M., Kodira C.D., Taylor T.D., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Abouelleil A., Allen N.R., Anderson S., Bloom T., Bugalter B., Butler J. Lander E.S.Nature 437:551-555(2005) [PubMed: 16177791] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [2] | "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 2). Tissue: Testis. |
| [3] | "Identification of a tissue-specific putative transcription factor in breast tissue by serological screening of a breast cancer library." Jaeger D., Stockert E., Guere A.O., Scanlan M.J., Karbach J., Jaeger E., Knuth A., Old L.J., Chen Y.-T. Cancer Res. 61:2055-2061(2001) [PubMed: 11280766] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-1249 (ISOFORM 3), TISSUE SPECIFICITY. |
Cross-references
Sequence databases | |
|---|---|
| AP006565 Genomic DNA. No translation available. AP006507 Genomic DNA. No translation available. AP006564 Genomic DNA. No translation available. BC028407 mRNA. Translation: AAH28407.1. AF269088 mRNA. Translation: AAK27326.1. Frameshift. | |
| IPI | IPI00000514. IPI00889594. IPI00921426. |
| RefSeq | NP_001138501.1. |
| UniGene | Hs.567889 |
3D structure databases | |
| HSSP | HSSP built from PDB template 1UOH based on UniProtKB O75832. |
| ModBase | Search... |
PTM databases | |
| PhosphoSite | Q9BXX2. |
Genome annotation databases | |
| Ensembl | ENSG00000180777. Homo sapiens. [Contig view] |
| GeneID | 374860. |
Organism-specific databases | |
| GeneCards | GC18P014741. |
| HGNC | HGNC:24165. ANKRD30B. |
| PharmGKB | PA134980028. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOGENOM | Q9BXX2. |
| HOVERGEN | Q9BXX2. |
| OMA | Q9BXX2. ACVNGHA. |
Gene expression databases | |
| ArrayExpress | Q9BXX2. |
| Bgee | Q9BXX2. |
| CleanEx | HS_ANKRD30B. |
Family and domain databases | |
| InterPro | IPR002110. ANK. [Graphical view] |
| Gene3D | G3DSA:1.25.40.20. ANK. 1 hit. |
| Pfam | PF00023. Ank. 5 hits. [Graphical view] |
| SMART | SM00248. ANK. 6 hits. [Graphical view] |
| PROSITE | PS50297. ANK_REP_REGION. 1 hit. PS50088. ANK_REPEAT. 4 hits. [Graphical view] |
| ProtoNet | Search... |
Entry information
| Entry name | AN30B_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9BXX2 Secondary accession number(s): Q4G175 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 18 Human chromosome 18: 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 |
| SIMILARITY comments Index of protein domains and families |

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