Reviewed,
UniProtKB/Swiss-Prot Q7Z6G8 (ANS1B_HUMAN)
Last modified
November 24, 2009.
Version 50.
History...
Clusters with 100%,
90%,
50% identity |
Documents (4) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Ankyrin repeat and sterile alpha motif domain-containing protein 1B Alternative name(s): Amyloid-beta protein intracellular domain-associated protein 1 Short name=AIDA-1 E2A-PBX1-associated protein Short name=EB-1 | ||
| Gene names |
| ||
| Organism | Homo sapiens (Human) [Complete 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 | 1249 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | Isoform 2 may participate in the regulation of nucleoplasmic coilin protein interactions in neuronal and transformed cells. Ref.2 Ref.7 Isoform 3 can regulate global protein synthesis by altering nucleolar numbers By similarity. Isoform 4 may play a role as a modulator of APP processing. Overexpression can down-regulate APP processing. Ref.2 Ref.7 |
| Subunit structure | Isoform 3 interacts with DLG4 By similarity. Interacts with EPHA8. Isoform 2 interacts with COIL. Isoform 4 interacts with APP and EPHA8. Isoform 6 interacts with EPHA8. |
| Subcellular location | Isoform 2: Nucleus. Isoform 3: Cell junction › synapse › postsynaptic cell membrane › postsynaptic density. Cell projection › dendritic spine. Nucleus. Nucleus › Cajal body. Note: The synaptic localization requires DLG4 interaction. Translocation to the nucleus in response to stimulation of NMDA receptors (NMDARs) in a calcium-independent manner By similarity. Isoform 4: Nucleus. Note: The interaction with APP causes its partial exclusion from the nucleus, when APP is overexpressed. Ref.2 Ref.7 Ref.1 Isoform 6: Nucleus. |
| Tissue specificity | Highly expressed in marrow from patients with pre-B ALL associated with the t(1;19) translocation. Strongly expressed in brain and testis. Expressed in fetal brain. Isoform 4 is highly expressed in brain (at protein level). Isoform 6 is expressed in brain and several cancer cell lines. Ref.7 Ref.6 |
| Induction | Transcriptionally up-regulated in t(1:19) pre-B cell acute lymphocytic leukemia by the chimeric TCF3-PBX1. Not expressed in pre-B cell that lack this translocation. Ref.6 Ref.8 |
| Post-translational modification | Isoform 3 nuclear translocation requires an NMDAR-dependent proteolytic cleavage By similarity. |
| Sequence similarities | Contains 7 ANK repeats. Contains 1 PID domain. Contains 2 SAM (sterile alpha motif) domains. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cell junction Cell membrane Cell projection Cytoplasm Membrane Nucleus Postsynaptic cell membrane Synapse |
| Coding sequence diversity | Alternative splicing |
| Domain | ANK repeat Repeat |
| PTM | Phosphoprotein |
| Technical term | 3D-structure Complete proteome |
| Gene Ontology (GO) | |
| Cellular component | Cajal body Inferred from electronic annotation. Source: UniProtKB-SubCell cell junctionInferred from electronic annotation. Source: UniProtKB-KW cytoplasmInferred from electronic annotation. Source: UniProtKB-SubCell dendritic spineInferred from electronic annotation. Source: UniProtKB-SubCell postsynaptic densityInferred from electronic annotation. Source: UniProtKB-SubCell postsynaptic membraneInferred from electronic annotation. Source: UniProtKB-KW |
| Complete GO annotation... | |
Alternative products
| This entry describes 8 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q7Z6G8-1) Also known as: AIDA-1b; 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: Q7Z6G8-2) Also known as: AIDA-1c; The sequence of this isoform differs from the canonical sequence as follows: 1-775: Missing. 776-808: SFTSEWEEIDKIMSSIDVGINNELKEMNGETTR → MMWQCHLSAQDYRYYPVDGYSLLKRFPLHPLTG 964-1023: Missing. 1226-1249: DLLHASHTGQEPSERHTEEALRKF → QIDPSEQKTLANLPWIVEPGQEAKRGINTKYETTIF | ||||||
| Isoform 3 (identifier: Q7Z6G8-3) The sequence of this isoform differs from the canonical sequence as follows: 1-775: Missing. 776-808: SFTSEWEEIDKIMSSIDVGINNELKEMNGETTR → MMWQCHLSAQDYRYYPVDGYSLLKRFPLHPLTG 1023-1023: Q → QSSVCEIWTNQNAGFPFSAIHQVHN 1226-1249: DLLHASHTGQEPSERHTEEALRKF → QIDPSEQKTLANLPWIVEPGQEAKRGINTKYETTIF | ||||||
| Note: The synaptic localization requires DLG4 interaction. Translocation to the nucleus in response to stimulation of NMDA receptors (NMDARs) in a calcium-independent manner (By similarity). | ||||||
| Isoform 4 (identifier: Q7Z6G8-4) Also known as: AIDA-1a; The sequence of this isoform differs from the canonical sequence as follows: 1-775: Missing. 776-808: SFTSEWEEIDKIMSSIDVGINNELKEMNGETTR → MMWQCHLSAQDYRYYPVDGYSLLKRFPLHPLTG 1226-1249: DLLHASHTGQEPSERHTEEALRKF → PFCFKADRPI | ||||||
| Note: The interaction with APP causes its partial exclusion from the nucleus, when APP is overexpressed. Ref.2 Ref.7 Ref.1 | ||||||
| Isoform 5 (identifier: Q7Z6G8-5) The sequence of this isoform differs from the canonical sequence as follows: 1-775: Missing. 776-808: SFTSEWEEIDKIMSSIDVGINNELKEMNGETTR → MMWQCHLSAQDYRYYPVDGYSLLKRFPLHPLTG 964-1023: EPSGNHTPPQ...RSKLERQMAQ → SSVCEIWTNQNAGFPFSAIHQVHN 1226-1249: DLLHASHTGQEPSERHTEEALRKF → QIDPSEQKTLANLPWIVEPGQEAKRGINTKYETTIF | ||||||
| Isoform 6 (identifier: Q7Z6G8-6) Also known as: AIDA-1bDeltaAnk; The sequence of this isoform differs from the canonical sequence as follows: 1-421: Missing. 805-808: Missing. 964-1023: Missing. | ||||||
| Isoform 7 (identifier: Q7Z6G8-7) The sequence of this isoform differs from the canonical sequence as follows: 1-775: Missing. 776-808: SFTSEWEEIDKIMSSIDVGINNELKEMNGETTR → MMWQCHLSAQDYRYYPVDGYSLLKRFPLHPLTG 964-1023: Missing. | ||||||
| Isoform 8 (identifier: Q7Z6G8-8) The sequence of this isoform differs from the canonical sequence as follows: 1-832: Missing. 928-1023: VLKINLIGHR...RSKLERQMAQ → QSSVCEIWTNQNAGFPFSAIHQVHN 1226-1249: DLLHASHTGQEPSERHTEEALRKF → IDRSEQKTLANLPWIVEPGQEAKRGINTKYETTIF |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | |||||||||||||||
Molecule processing | ||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Initiator methionine | 1 | 1 | Removed By similarity | |||||||||||||||||
| Chain | 2 – 1249 | 1248 | Ankyrin repeat and sterile alpha motif domain-containing protein 1B | PRO_0000327259 | ||||||||||||||||
Regions | ||||||||||||||||||||
| Repeat | 2 – 31 | 30 | ANK 1 | |||||||||||||||||
| Repeat | 58 – 87 | 30 | ANK 2 | |||||||||||||||||
| Repeat | 91 – 120 | 30 | ANK 3 | |||||||||||||||||
| Repeat | 127 – 156 | 30 | ANK 4 | |||||||||||||||||
| Repeat | 160 – 189 | 30 | ANK 5 | |||||||||||||||||
| Repeat | 193 – 222 | 30 | ANK 6 | |||||||||||||||||
| Repeat | 225 – 254 | 30 | ANK 7 | |||||||||||||||||
| Domain | 811 – 877 | 67 | SAM 1 | |||||||||||||||||
| Domain | 885 – 950 | 66 | SAM 2 | |||||||||||||||||
| Domain | 1057 – 1214 | 158 | PID | |||||||||||||||||
Amino acid modifications | ||||||||||||||||||||
| Modified residue | 902 | 1 | Phosphotyrosine By similarity | |||||||||||||||||
Natural variations | ||||||||||||||||||||
| Alternative sequence | 1 – 832 | 832 | Missing in isoform 8. | VSP_032701 | ||||||||||||||||
| Alternative sequence | 1 – 775 | 775 | Missing in isoform 3, isoform 4, isoform 5, isoform 2 and isoform 7. | VSP_032702 | ||||||||||||||||
| Alternative sequence | 1 – 421 | 421 | Missing in isoform 6. | VSP_032703 | ||||||||||||||||
| Alternative sequence | 776 – 808 | 33 | SFTSE…GETTR → MMWQCHLSAQDYRYYPVDGY SLLKRFPLHPLTG in isoform 3, isoform 4, isoform 5, isoform 2 and isoform 7. | VSP_032704 | ||||||||||||||||
| Alternative sequence | 805 – 808 | 4 | Missing in isoform 6. | VSP_032705 | ||||||||||||||||
| Alternative sequence | 928 – 1023 | 96 | VLKIN…RQMAQ → QSSVCEIWTNQNAGFPFSAI HQVHN in isoform 8. | VSP_032706 | ||||||||||||||||
| Alternative sequence | 964 – 1023 | 60 | Missing in isoform 2, isoform 6 and isoform 7. | VSP_032707 | ||||||||||||||||
| Alternative sequence | 964 – 1023 | 60 | EPSGN…RQMAQ → SSVCEIWTNQNAGFPFSAIH QVHN in isoform 5. | VSP_032708 | ||||||||||||||||
| Alternative sequence | 1023 | 1 | Q → QSSVCEIWTNQNAGFPFSAI HQVHN in isoform 3. | VSP_032709 | ||||||||||||||||
| Alternative sequence | 1226 – 1249 | 24 | DLLHA…ALRKF → QIDPSEQKTLANLPWIVEPG QEAKRGINTKYETTIF in isoform 3, isoform 5 and isoform 2. | VSP_032710 | ||||||||||||||||
| Alternative sequence | 1226 – 1249 | 24 | DLLHA…ALRKF → PFCFKADRPI in isoform 4. | VSP_032711 | ||||||||||||||||
| Alternative sequence | 1226 – 1249 | 24 | DLLHA…ALRKF → IDRSEQKTLANLPWIVEPGQ EAKRGINTKYETTIF in isoform 8. | VSP_032712 | ||||||||||||||||
Experimental info | ||||||||||||||||||||
| Sequence conflict | 814 | 1 | Q → L in BAF82457. Ref.4 | |||||||||||||||||
| Sequence conflict | 855 | 1 | E → G in AAI42670. Ref.5 | |||||||||||||||||
Secondary structure | ||||||||||||||||||||
Helix Strand Turn | ||||||||||||||||||||
| Helix | 819 – 822 | 4 | ||||||||||||||||||
| Helix | 826 – 828 | 3 | ||||||||||||||||||
| Helix | 829 – 834 | 6 | ||||||||||||||||||
| Turn | 840 – 842 | 3 | ||||||||||||||||||
| Helix | 852 – 855 | 4 | ||||||||||||||||||
| Helix | 864 – 873 | 10 | ||||||||||||||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "The intracellular localization of amyloid beta protein precursor (AbetaPP) intracellular domain associated protein-1 (AIDA-1) is regulated by AbetaPP and alternative splicing." Ghersi E., Vito P., Lopez P., Abdallah M., D'Adamio L. J. Alzheimers Dis. 6:67-78(2004) [PubMed: 15004329] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 6 AND 4), INTERACTION WITH APP, SUBCELLULAR LOCATION. Tissue: Fetal brain. |
| [2] | "A novel EB-1/AIDA-1 isoform, AIDA-1c, interacts with the Cajal body protein coilin." Xu H., Hebert M.D. BMC Cell Biol. 6:23-23(2005) [PubMed: 15862129] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), FUNCTION, INTERACTION WITH COIL, SUBCELLULAR LOCATION. Tissue: Brain. |
| [3] | "Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning." Hu R.-M., Han Z.-G., Song H.-D., Peng Y.-D., Huang Q.-H., Ren S.-X., Gu Y.-J., Huang C.-H., Li Y.-B., Jiang C.-L., Fu G., Zhang Q.-H., Gu B.-W., Dai M., Mao Y.-F., Gao G.-F., Rong R., Ye M. Chen J.-L.Proc. Natl. Acad. Sci. U.S.A. 97:9543-9548(2000) [PubMed: 10931946] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 7). Tissue: Adrenal gland. |
| [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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). Tissue: Brain. |
| [5] | "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] (ISOFORMS 3; 5; 7 AND 8). Tissue: Brain and Hippocampus. |
| [6] | "EB-1, a tyrosine kinase signal transduction gene, is transcriptionally activated in the t(1;19) subset of pre-B ALL, which express oncoprotein E2a-Pbx1." Fu X., McGrath S., Pasillas M., Nakazawa S., Kamps M.P. Oncogene 18:4920-4929(1999) [PubMed: 10490826] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 294-1248 (ISOFORM 1), INDUCTION, TISSUE SPECIFICITY. |
| [7] | "Amyloid-beta protein precursor (AbetaPP) intracellular domain-associated protein-1 proteins bind to AbetaPP and modulate its processing in an isoform-specific manner." Ghersi E., Noviello C., D'Adamio L. J. Biol. Chem. 279:49105-49112(2004) [PubMed: 15347684] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 425-1192 (ISOFORM 1), FUNCTION, INTERACTION WITH APP, SUBCELLULAR LOCATION, TISSUE SPECIFICITY. |
| [8] | "The effects of siRNA-mediated inhibition of E2A-PBX1 on EB-1 and Wnt16b expression in the 697 pre-B leukemia cell line." Casagrande G., te Kronnie G., Basso G. Haematologica 91:765-771(2006) [PubMed: 16769578] [Abstract] Cited for: INDUCTION. |
| [9] | "Identification of phosphotyrosine binding domain-containing proteins as novel downstream targets of the EphA8 signaling function." Shin J., Gu C., Park E., Park S. Mol. Cell. Biol. 27:8113-8126(2007) [PubMed: 17875921] [Abstract] Cited for: INTERACTION WITH EPHA8. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AY281131 mRNA. Translation: AAP37612.1. AY281132 mRNA. Translation: AAP37613.1. AY283057 mRNA. Translation: AAP38184.2. Different initiation. AY753193 mRNA. Translation: AAV28691.1. AF164792 mRNA. Translation: AAF80756.1. AK289768 mRNA. Translation: BAF82457.1. BC026313 mRNA. Translation: AAH26313.2. BC068451 mRNA. Translation: AAH68451.1. BC142669 mRNA. Translation: AAI42670.1. BC150204 mRNA. Translation: AAI50205.1. AF145204 mRNA. Translation: AAD33951.1. AY620824 mRNA. Translation: AAT39519.1. | |||||||||||||||||||
| IPI | IPI00183620. IPI00375174. IPI00385409. IPI00432458. IPI00450411. IPI00477368. IPI00855765. IPI00889592. | ||||||||||||||||||
| RefSeq | NP_064525.1. NP_690001.3. NP_858056.2. | ||||||||||||||||||
| UniGene | Hs.506458 | ||||||||||||||||||
3D structure databases | |||||||||||||||||||
| |||||||||||||||||||
| ModBase | Search... | ||||||||||||||||||
PTM databases | |||||||||||||||||||
| PhosphoSite | Q7Z6G8. | ||||||||||||||||||
Proteomic databases | |||||||||||||||||||
| PRIDE | Q7Z6G8. | ||||||||||||||||||
Genome annotation databases | |||||||||||||||||||
| Ensembl | ENST00000329257; ENSP00000331381; ENSG00000185046; Homo sapiens. [Genome view] | ||||||||||||||||||
| GeneID | 56899. | ||||||||||||||||||
| KEGG | hsa:56899. | ||||||||||||||||||
| UCSC | uc001tgd.1. human. uc001tge.1. human. uc001tgf.1. human. uc001tgg.2. human. uc001tgi.1. human. uc001tgj.1. human. uc009ztr.1. human. uc009zts.1. human. | ||||||||||||||||||
Organism-specific databases | |||||||||||||||||||
| CTD | 56899. | ||||||||||||||||||
| GeneCards | GC12M097653. | ||||||||||||||||||
| HGNC | HGNC:24600. ANKS1B. | ||||||||||||||||||
| MIM | 607815. gene. | ||||||||||||||||||
| GenAtlas | Search... | ||||||||||||||||||
Phylogenomic databases | |||||||||||||||||||
| HOGENOM | Q7Z6G8. | ||||||||||||||||||
| HOVERGEN | Q7Z6G8. | ||||||||||||||||||
Gene expression databases | |||||||||||||||||||
| ArrayExpress | Q7Z6G8. | ||||||||||||||||||
| Bgee | Q7Z6G8. | ||||||||||||||||||
| Genevestigator | Q7Z6G8. | ||||||||||||||||||
Family and domain databases | |||||||||||||||||||
| InterPro | IPR002110. Ankyrin_rpt. IPR020683. Ankyrin_rpt-contain_dom. IPR011993. PH_type. IPR006020. PTB_PID. IPR001660. SAM. IPR010993. SAM_homology. IPR013761. SAM_type. [Graphical view] | ||||||||||||||||||
| Gene3D | G3DSA:1.25.40.20. ANK. 1 hit. G3DSA:2.30.29.30. PH_type. 1 hit. G3DSA:1.10.150.50. SAM_type. 2 hits. | ||||||||||||||||||
| Pfam | PF00023. Ank. 6 hits. PF00640. PID. 1 hit. PF00536. SAM_1. 2 hits. [Graphical view] | ||||||||||||||||||
| SMART | SM00248. ANK. 6 hits. SM00462. PTB. 1 hit. SM00454. SAM. 2 hits. [Graphical view] | ||||||||||||||||||
| PROSITE | PS50297. ANK_REP_REGION. 1 hit. PS50088. ANK_REPEAT. 5 hits. PS01179. PID. 1 hit. PS50105. SAM_DOMAIN. 2 hits. [Graphical view] | ||||||||||||||||||
| ProtoNet | Search... | ||||||||||||||||||
Other Resources | |||||||||||||||||||
| NextBio | 62343. | ||||||||||||||||||
| SOURCE | Search... | ||||||||||||||||||
Entry information
| Entry name | ANS1B_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q7Z6G8 Secondary accession number(s): A5PKY5 Q9Y5K9 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
| 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 12 Human chromosome 12: entries, gene names and cross-references to MIM |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PDB cross-references Index of Protein Data Bank (PDB) cross-references |
| SIMILARITY comments Index of protein domains and families |

Clusters with


