O75553 (DAB1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 100.
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: Disabled homolog 1 | ||
| Gene names |
| ||
| 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 | 588 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Adapter molecule functioning in neural development. May regulate SIAH1 activity By similarity. |
| Subunit structure | Associates with the SH2 domains of SRC, FYN and ABL. Interacts (phosphorylated on tyrosine residues) with CRK and CRKL (via respective SH2 domain). Interacts with DAB2IP, SIAH1, LRP1, LRP8 and VLDLR. Ref.7 |
| Domain | The PID domain specifically binds to the Asn-Pro-Xaa-Tyr(P) motif found in many tyrosine-phosphorylated proteins. |
| Post-translational modification | Phosphorylated on Tyr-198 and Tyr-220 upon reelin induction in embryonic neurons By similarity. Also phosphorylated on Ser-524 independently of reelin signaling By similarity. |
| Sequence similarities | Contains 1 PID domain. |
| Sequence caution | The sequence BAE06094.1 differs from that shown. Reason: Erroneous initiation. |
Ontologies
Alternative products
| This entry describes 6 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform DAB588 (identifier: O75553-1) 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. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform DAB213 (identifier: O75553-2) The sequence of this isoform differs from the canonical sequence as follows: 200-213: YIVFEAGHEPIRDP → VISETSRGFRFKSD 214-588: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform DAB469 (identifier: O75553-3) The sequence of this isoform differs from the canonical sequence as follows: 103-221: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform DAB537 (identifier: O75553-4) The sequence of this isoform differs from the canonical sequence as follows: 185-219: Missing. 259-274: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform DAB553 (identifier: O75553-5) The sequence of this isoform differs from the canonical sequence as follows: 185-219: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform DAB555 (identifier: O75553-6) The sequence of this isoform differs from the canonical sequence as follows: 242-274: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 588 | 588 | Disabled homolog 1 | PRO_0000079767 | |||||
Regions | |||||||||
| Domain | 36 – 189 | 154 | PID | ||||||
Amino acid modifications | |||||||||
| Modified residue | 198 | 1 | Phosphotyrosine By similarity | ||||||
| Modified residue | 220 | 1 | Phosphotyrosine By similarity | ||||||
| Modified residue | 232 | 1 | Phosphotyrosine By similarity | ||||||
| Modified residue | 524 | 1 | Phosphoserine; by CDK5 By similarity | ||||||
Natural variations | |||||||||
| Alternative sequence | 103 – 221 | 119 | Missing in isoform DAB469. | VSP_026166 | |||||
| Alternative sequence | 185 – 219 | 35 | Missing in isoform DAB553 and isoform DAB537. | VSP_026167 | |||||
| Alternative sequence | 200 – 213 | 14 | YIVFE…PIRDP → VISETSRGFRFKSD in isoform DAB213. | VSP_026168 | |||||
| Alternative sequence | 214 – 588 | 375 | Missing in isoform DAB213. | VSP_026169 | |||||
| Alternative sequence | 242 – 274 | 33 | Missing in isoform DAB555. | VSP_026170 | |||||
| Alternative sequence | 259 – 274 | 16 | Missing in isoform DAB537. | VSP_026171 | |||||
| Natural variant | 71 | 1 | V → I. Corresponds to variant rs1855377 [ dbSNP | Ensembl ]. | VAR_056857 | |||||
Experimental info | |||||||||
| Sequence conflict | 15 | 1 | A → T in AAI12939. Ref.6 | ||||||
| Sequence conflict | 59 | 1 | K → M in AAH67447. Ref.6 | ||||||
| Sequence conflict | 86 | 1 | F → L in AAF73058. Ref.2 | ||||||
| Sequence conflict | 295 | 1 | P → S in AAH67447. Ref.6 | ||||||
| Sequence conflict | 324 | 1 | F → L in AAC70068. Ref.1 | ||||||
| Sequence conflict | 331 | 1 | S → P in AAC70068. Ref.1 | ||||||
| Sequence conflict | 359 | 1 | Q → H in AAC70068. Ref.1 | ||||||
| Sequence conflict | 368 | 1 | G → R in AAF73058. Ref.2 | ||||||
| Sequence conflict | 412 | 1 | M → V in AAF73058. Ref.2 | ||||||
| Sequence conflict | 586 | 1 | A → D in AAC70068. Ref.1 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Cloning of human DAB1 and mapping to chromosome 1p31-p32." Lambert de Rouvroit C., Goffinet A.M. Genomics 53:246-247(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM DAB555). |
| [2] | "Aberrant disabled-1 expression in tumors." Fazili Z., Sun W., Xu X.-X. Submitted (MAY-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM DAB555). |
| [3] | "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], ALTERNATIVE SPLICING. |
| [4] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | "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] (ISOFORM DAB555). Tissue: Brain. |
| [6] | "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] (ISOFORMS DAB469; DAB537 AND DAB553). |
| [7] | "Serine and threonine phosphorylation of the low density lipoprotein receptor-related protein by protein kinase Calpha regulates endocytosis and association with adaptor molecules." Ranganathan S., Liu C.-X., Migliorini M.M., Von Arnim C.A.F., Peltan I.D., Mikhailenko I., Hyman B.T., Strickland D.K. J. Biol. Chem. 279:40536-40544(2004) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH LRP1. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF071062 mRNA. Translation: AAC70068.1. AF263547 mRNA. Translation: AAF73058.1. AL139219, AL354883 Genomic DNA. Translation: CAI19217.1. AL139219, AL161740, AL354883 Genomic DNA. Translation: CAI19218.1. AL139219, AL161740, AL354883 Genomic DNA. Translation: CAI19219.1. AL139219, AL354883 Genomic DNA. Translation: CAI19220.1. AL139219, AL161740, AL354883 Genomic DNA. Translation: CAI19221.1. AL161740, AL139219, AL354883 Genomic DNA. Translation: CAI18815.1. AL161740, AL139219, AL354883 Genomic DNA. Translation: CAI18816.1. AL161740, AL139219, AL354883 Genomic DNA. Translation: CAI18817.1. AL354883, AL139219 Genomic DNA. Translation: CAI22360.1. AL354883, AL139219, AL161740 Genomic DNA. Translation: CAI22361.1. AL354883, AL139219, AL161740 Genomic DNA. Translation: CAI22362.1. AL354883, AL139219 Genomic DNA. Translation: CAI22363.1. AL354883, AL139219, AL161740 Genomic DNA. Translation: CAI22364.1. AK095513 mRNA. Translation: BAG53075.1. AB210012 mRNA. Translation: BAE06094.1. Different initiation. CH471059 Genomic DNA. Translation: EAX06637.1. BC067445 mRNA. Translation: AAH67445.1. BC067446 mRNA. Translation: AAH67446.1. BC067447 mRNA. Translation: AAH67447.1. BC112938 mRNA. Translation: AAI12939.1. |
| IPI | IPI00026889. IPI00433142. IPI00433150. IPI00514371. IPI00514638. IPI00847156. |
| RefSeq | NP_066566.3. NM_021080.3. |
| UniGene | Hs.477370. |
3D structure databases | |
| ProteinModelPortal | O75553. |
| ModBase | Search... |
Protein-protein interaction databases | |
| MINT | MINT-156038. |
PTM databases | |
| PhosphoSite | O75553. |
Proteomic databases | |
| PaxDb | O75553. |
| PRIDE | O75553. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000332102; ENSP00000329120; ENSG00000173406. ENST00000371230; ENSP00000360274; ENSG00000173406. ENST00000371231; ENSP00000360275; ENSG00000173406. ENST00000371232; ENSP00000360276; ENSG00000173406. ENST00000371233; ENSP00000360277; ENSG00000173406. ENST00000371234; ENSP00000360278; ENSG00000173406. ENST00000371236; ENSP00000360280; ENSG00000173406. ENST00000414851; ENSP00000387581; ENSG00000173406. ENST00000420954; ENSP00000395296; ENSG00000173406. ENST00000439789; ENSP00000409328; ENSG00000173406. |
| GeneID | 1600. |
| KEGG | hsa:1600. |
| UCSC | uc001cyq.1. human. uc001cyr.1. human. uc001cys.1. human. uc001cyt.1. human. uc009vzw.1. human. |
Organism-specific databases | |
| CTD | 1600. |
| GeneCards | GC01M057460. |
| HGNC | HGNC:2661. DAB1. |
| HPA | CAB032329. |
| MIM | 603448. gene. |
| neXtProt | NX_O75553. |
| PharmGKB | PA27131. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG313182. |
| HOVERGEN | HBG018945. |
| InParanoid | O75553. |
| OMA | AAFMPTQ. |
Enzyme and pathway databases | |
| Pathway_Interaction_DB | lis1pathway. Lissencephaly gene (LIS1) in neuronal migration and development. reelinpathway. Reelin signaling pathway. |
Gene expression databases | |
| ArrayExpress | O75553. |
| Bgee | O75553. |
| Genevestigator | O75553. |
| GermOnline | ENSG00000173406. Homo sapiens. |
Family and domain databases | |
| Gene3D | 2.30.29.30. 1 hit. |
| InterPro | IPR011993. PH_like_dom. IPR006020. PTyr_interaction_dom. [Graphical view] |
| Pfam | PF00640. PID. 1 hit. [Graphical view] |
| SMART | SM00462. PTB. 1 hit. [Graphical view] |
| PROSITE | PS01179. PID. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | DAB1. human. |
| GenomeRNAi | 1600. |
| NextBio | 6562. |
| SOURCE | Search... |
Entry information
| Entry name | DAB1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: O75553 Secondary accession number(s): A4FU90 Q9NYA8 | ||||||||
| Entry history |
| ||||||||
| 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
