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UniProtKB - O75553 (DAB1_HUMAN)

Entry version 167 (12 Aug 2020)
Sequence version 3 (26 Jun 2007)
Previous versions | rss
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Protein

Disabled homolog 1

Gene

DAB1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Adapter molecule functioning in neural development. May regulate SIAH1 activity.By similarity

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDevelopmental protein
Biological processDifferentiation, Neurogenesis

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		O75553

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-8866376, Reelin signalling pathway

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		O75553

SIGNOR Signaling Network Open Resource

More...SIGNORi		O75553

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Disabled homolog 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:DAB1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000173406.15

Human Gene Nomenclature Database

More...HGNCi		HGNC:2661, DAB1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		603448, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O75553

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Spinocerebellar ataxia 37 (SCA37)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA37 is an autosomal dominant form characterized by adult-onset of slowly progressive gait instability, frequent falls, and dysarthria associated with cerebellar atrophy on brain imaging.
Related information in OMIM

Keywords - Diseasei

Neurodegeneration, Spinocerebellar ataxia

Organism-specific databases

DisGeNET

More...DisGeNETi		1600

MalaCards human disease database

More...MalaCardsi		DAB1
MIMi615945, phenotype

Open Targets

More...OpenTargetsi		ENSG00000173406

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		363710, Spinocerebellar ataxia type 37

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA27131

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		O75553, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		DAB1

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000797671 – 588Disabled homolog 1Add BLAST588

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei198PhosphotyrosineBy similarity1
Modified residuei220PhosphotyrosineBy similarity1
Modified residuei232PhosphotyrosineBy similarity1
Modified residuei524Phosphoserine; by CDK5By similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylated on Tyr-198 and Tyr-220 upon reelin induction in embryonic neurons. Also phosphorylated on Ser-524 independently of reelin signaling.By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		O75553

PeptideAtlas

More...PeptideAtlasi		O75553

PRoteomics IDEntifications database

More...PRIDEi		O75553

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		50077 [O75553-1]
50078 [O75553-2]
50079 [O75553-3]
50080 [O75553-4]
50081 [O75553-5]
50082 [O75553-6]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O75553

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		O75553

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Mainly expressed in brain.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000173406, Expressed in cortical plate and 140 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		O75553, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O75553, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000173406, Tissue enhanced (brain, intestine)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Associates with the SH2 domains of SRC, FYN and ABL (By similarity).

Interacts (phosphorylated on tyrosine residues) with CRK and CRKL (via respective SH2 domain) (By similarity).

Interacts with SIAH1, LRP8 and VLDLR (By similarity).

Interacts with LRP1 (PubMed:15272003).

Interacts with APLP1 (via NPXY motif) (By similarity).

Interacts with DAB2IP (By similarity).

By similarity1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details
O75553
With#Exp.IntAct
BHLHE40 [O14503]3EBI-7875264,EBI-711810
C1orf94 [Q6P1W5]3EBI-7875264,EBI-946029
CIART [Q8N365]3EBI-7875264,EBI-10265133
DAZAP2 [Q15038]3EBI-7875264,EBI-724310
FAM168A [Q92567]3EBI-7875264,EBI-7957930
hCG_2003792 [A0A024R5S0]3EBI-7875264,EBI-10188461
HMBOX1 [Q6NT76]3EBI-7875264,EBI-2549423
HNRNPLL [Q8WVV9]3EBI-7875264,EBI-535849
HYAL3 [O43820]3EBI-7875264,EBI-3913399
KRTAP19-5 [Q3LI72]3EBI-7875264,EBI-1048945
KRTAP19-7 [Q3SYF9]3EBI-7875264,EBI-10241353
KRTAP8-1 [Q8IUC2]3EBI-7875264,EBI-10261141
LGALS9B [Q3B8N2]3EBI-7875264,EBI-10240775
LGALS9C [Q6DKI2]3EBI-7875264,EBI-9088829
LNX1 [Q8TBB1]5EBI-7875264,EBI-739832
MAGED1 [Q9Y5V3]3EBI-7875264,EBI-716006
MBNL1 [Q86VM6]3EBI-7875264,EBI-10225084
MBNL1 [Q9NR56]4EBI-7875264,EBI-2805004
MBNL3 [Q9NUK0]3EBI-7875264,EBI-6661142
NAF1 [Q96HR8]3EBI-7875264,EBI-2515597
PIN1 [Q13526]3EBI-7875264,EBI-714158
POGZ [Q7Z3K3]3EBI-7875264,EBI-1389308
PPIG [Q13427]3EBI-7875264,EBI-396072
PRR20C [P86479]3EBI-7875264,EBI-10172814
RAMAC [Q9BTL3]3EBI-7875264,EBI-744023
RBFOX2 [O43251]3EBI-7875264,EBI-746056
RHOXF2 [Q9BQY4]3EBI-7875264,EBI-372094
ROR2 [A1L4F5]3EBI-7875264,EBI-10172778
SIRPB1 - isoform 2 [O00241-2]3EBI-7875264,EBI-10179231
SMAP2 [Q8WU79]3EBI-7875264,EBI-2822515
SNRPB - isoform SM-B [P14678-2]3EBI-7875264,EBI-372475
STRBP [Q96SI9]3EBI-7875264,EBI-740355
TCEA2 [Q15560]3EBI-7875264,EBI-710310
TCEA2 [Q86VL0]3EBI-7875264,EBI-10259904
TCEANC [Q8N8B7]3EBI-7875264,EBI-954696
TMTC3 [Q6ZXV5]3EBI-7875264,EBI-10188441
TOLLIP [Q6FIE9]3EBI-7875264,EBI-10249783
TOLLIP [Q9H0E2]3EBI-7875264,EBI-74615
VENTX [O95231]4EBI-7875264,EBI-10191303
WDYHV1 [Q96HA8]3EBI-7875264,EBI-741158
ZBTB32 [A0A0C4DGF1]3EBI-7875264,EBI-10188476
ZC3H10 [Q96K80]3EBI-7875264,EBI-742550
ZCCHC10 [Q8TBK6]3EBI-7875264,EBI-597063
ZNF488 [Q96MN9]3EBI-7875264,EBI-948288
Q9H9I03EBI-7875264,EBI-10309771
Isoform DAB553 [O75553-5]
With#Exp.IntAct
PIN1 [Q13526]3EBI-12133006,EBI-714158

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		107970, 68 interactors

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...ELMi		O75553

Protein interaction database and analysis system

More...IntActi		O75553, 56 interactors

Molecular INTeraction database

More...MINTi		O75553

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000360280

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		O75553, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		O75553

Database of comparative protein structure models

More...ModBasei		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini36 – 189PIDPROSITE-ProRule annotationAdd BLAST154

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The PID domain specifically binds to the Asn-Pro-Xaa-Tyr(P) motif found in many tyrosine-phosphorylated proteins.

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3535, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000158038

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_020747_2_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O75553

KEGG Orthology (KO)

More...KOi		K20054

Identification of Orthologs from Complete Genome Data

More...OMAi		FDEKTGX

Database of Orthologous Groups

More...OrthoDBi		279276at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		O75553

TreeFam database of animal gene trees

More...TreeFami		TF316724

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.30.29.30, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR011993, PH-like_dom_sf
IPR006020, PTB/PI_dom

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00640, PID, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00462, PTB, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS01179, PID, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (6+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 6 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 6 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform DAB588 (identifier: O75553-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MSTETELQVA VKTSAKKDSR KKGQDRSEAT LIKRFKGEGV RYKAKLIGID 
        60         70         80         90        100
EVSAARGDKL CQDSMMKLKG VVAGARSKGE HKQKIFLTIS FGGIKIFDEK 
       110        120        130        140        150
TGALQHHHAV HEISYIAKDI TDHRAFGYVC GKEGNHRFVA IKTAQAAEPV 
       160        170        180        190        200
ILDLRDLFQL IYELKQREEL EKKAQKDKQC EQAVYQTILE EDVEDPVYQY 
       210        220        230        240        250
IVFEAGHEPI RDPETEENIY QVPTSQKKEG VYDVPKSQPV SNGYSFEDFE 
       260        270        280        290        300
ERFAAATPNR NLPTDFDEIF EATKAVTQLE LFGDMSTPPD ITSPPTPATP 
       310        320        330        340        350
GDAFIPSSSQ TLPASADVFS SVPFGTAAVP SGYVAMGAVL PSFWGQQPLV 
       360        370        380        390        400
QQQMVMGAQP PVAQVMPGAQ PIAWGQPGLF PATQQPWPTV AGQFPPAAFM 
       410        420        430        440        450
PTQTVMPLPA AMFQGPLTPL ATVPGTSDST RSSPQTDKPR QKMGKETFKD 
       460        470        480        490        500
FQMAQPPPVP SRKPDQPSLT CTSEAFSSYF NKVGVAQDTD DCDDFDISQL 
       510        520        530        540        550
NLTPVTSTTP STNSPPTPAP RQSSPSKSSA SHASDPTTDD IFEEGFESPS 
       560        570        580 
KSEEQEAPDG SQASSNSDPF GEPSGEPSGD NISPQAGS
Length:588
Mass (Da):63,775
Last modified:June 26, 2007 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iDAD4024364113AC5
GO
Isoform DAB213 (identifier: O75553-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     200-213: YIVFEAGHEPIRDP → VISETSRGFRFKSD
     214-588: Missing.

Show »
Length:213
Mass (Da):24,091
Checksum:i9A3ADE86341D96E1
GO
Isoform DAB469 (identifier: O75553-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     103-221: Missing.

Show »
Length:469
Mass (Da):49,856
Checksum:i5A03F93BDB4BAF42
GO
Isoform DAB537 (identifier: O75553-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     185-219: Missing.
     259-274: Missing.

Show »
Length:537
Mass (Da):57,720
Checksum:i6626BD99FE7C098C
GO
Isoform DAB553 (identifier: O75553-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     185-219: Missing.

Show »
Length:553
Mass (Da):59,612
Checksum:i59BC5E84DEF5F583
GO
Isoform DAB555 (identifier: O75553-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     242-274: Missing.

Show »
Length:555
Mass (Da):59,950
Checksum:i9EB4FC3D31BBF8CB
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
X6R4J9X6R4J9_HUMAN
Disabled homolog 1
DAB1
204Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A075B6G7A0A075B6G7_HUMAN
Disabled homolog 1
DAB1
239Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAE06094 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti15A → T in AAI12939 (PubMed:15489334).Curated1
Sequence conflicti59K → M in AAH67447 (PubMed:15489334).Curated1
Sequence conflicti86F → L in AAF73058 (Ref. 2) Curated1
Sequence conflicti295P → S in AAH67447 (PubMed:15489334).Curated1
Sequence conflicti324F → L in AAC70068 (PubMed:9790777).Curated1
Sequence conflicti331S → P in AAC70068 (PubMed:9790777).Curated1
Sequence conflicti359Q → H in AAC70068 (PubMed:9790777).Curated1
Sequence conflicti368G → R in AAF73058 (Ref. 2) Curated1
Sequence conflicti412M → V in AAF73058 (Ref. 2) Curated1
Sequence conflicti586A → D in AAC70068 (PubMed:9790777).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_05685771V → I. Corresponds to variant dbSNP:rs1855377Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_026166103 – 221Missing in isoform DAB469. 1 PublicationAdd BLAST119
Alternative sequenceiVSP_026167185 – 219Missing in isoform DAB553 and isoform DAB537. 1 PublicationAdd BLAST35
Alternative sequenceiVSP_026168200 – 213YIVFE…PIRDP → VISETSRGFRFKSD in isoform DAB213. CuratedAdd BLAST14
Alternative sequenceiVSP_026169214 – 588Missing in isoform DAB213. CuratedAdd BLAST375
Alternative sequenceiVSP_026170242 – 274Missing in isoform DAB555. 3 PublicationsAdd BLAST33
Alternative sequenceiVSP_026171259 – 274Missing in isoform DAB537. 1 PublicationAdd BLAST16

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AF071062 mRNA Translation: AAC70068.1
AF263547 mRNA Translation: AAF73058.1
AL139219 Genomic DNA No translation available.
AL161740 Genomic DNA No translation available.
AL354883 Genomic DNA No translation available.
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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS607.1 [O75553-6]

NCBI Reference Sequences

More...RefSeqi		NP_066566.3, NM_021080.3 [O75553-6]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000371230; ENSP00000360274; ENSG00000173406 [O75553-2]
ENST00000371231; ENSP00000360275; ENSG00000173406 [O75553-1]
ENST00000371236; ENSP00000360280; ENSG00000173406 [O75553-6]
ENST00000414851; ENSP00000387581; ENSG00000173406 [O75553-6]
ENST00000420954; ENSP00000395296; ENSG00000173406 [O75553-5]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		1600

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:1600

UCSC genome browser

More...UCSCi		uc001cyq.2, human [O75553-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF071062 mRNA Translation: AAC70068.1
AF263547 mRNA Translation: AAF73058.1
AL139219 Genomic DNA No translation available.
AL161740 Genomic DNA No translation available.
AL354883 Genomic DNA No translation available.
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
CCDSiCCDS607.1 [O75553-6]
RefSeqiNP_066566.3, NM_021080.3 [O75553-6]

3D structure databases

SMRiO75553
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi107970, 68 interactors
ELMiO75553
IntActiO75553, 56 interactors
MINTiO75553
STRINGi9606.ENSP00000360280

PTM databases

iPTMnetiO75553
PhosphoSitePlusiO75553

Polymorphism and mutation databases

BioMutaiDAB1

Proteomic databases

MassIVEiO75553
PeptideAtlasiO75553
PRIDEiO75553
ProteomicsDBi50077 [O75553-1]
50078 [O75553-2]
50079 [O75553-3]
50080 [O75553-4]
50081 [O75553-5]
50082 [O75553-6]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		19377, 508 antibodies

Genome annotation databases

EnsembliENST00000371230; ENSP00000360274; ENSG00000173406 [O75553-2]
ENST00000371231; ENSP00000360275; ENSG00000173406 [O75553-1]
ENST00000371236; ENSP00000360280; ENSG00000173406 [O75553-6]
ENST00000414851; ENSP00000387581; ENSG00000173406 [O75553-6]
ENST00000420954; ENSP00000395296; ENSG00000173406 [O75553-5]
GeneIDi1600
KEGGihsa:1600
UCSCiuc001cyq.2, human [O75553-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		1600
DisGeNETi1600
EuPathDBiHostDB:ENSG00000173406.15

GeneCards: human genes, protein and diseases

More...GeneCardsi		DAB1
HGNCiHGNC:2661, DAB1
HPAiENSG00000173406, Tissue enhanced (brain, intestine)
MalaCardsiDAB1
MIMi603448, gene
615945, phenotype
neXtProtiNX_O75553
OpenTargetsiENSG00000173406
Orphaneti363710, Spinocerebellar ataxia type 37
PharmGKBiPA27131

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3535, Eukaryota
GeneTreeiENSGT00940000158038
HOGENOMiCLU_020747_2_0_1
InParanoidiO75553
KOiK20054
OMAiFDEKTGX
OrthoDBi279276at2759
PhylomeDBiO75553
TreeFamiTF316724

Enzyme and pathway databases

PathwayCommonsiO75553
ReactomeiR-HSA-8866376, Reelin signalling pathway
SignaLinkiO75553
SIGNORiO75553

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		1600, 2 hits in 872 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		DAB1, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		DAB1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		1600
PharosiO75553, Tbio

Protein Ontology

More...PROi		PR:O75553
RNActiO75553, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000173406, Expressed in cortical plate and 140 other tissues
ExpressionAtlasiO75553, baseline and differential
GenevisibleiO75553, HS

Family and domain databases

Gene3Di2.30.29.30, 1 hit
InterProiView protein in InterPro
IPR011993, PH-like_dom_sf
IPR006020, PTB/PI_dom
PfamiView protein in Pfam
PF00640, PID, 1 hit
SMARTiView protein in SMART
SM00462, PTB, 1 hit
PROSITEiView protein in PROSITE
PS01179, PID, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiDAB1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O75553
Secondary accession number(s): A4FU90
, B3KTG3, Q4LE59, Q5T6M6, Q5T6M9, Q5T835, Q5T836, Q5T837, Q6NWS9, Q6NWT0, Q6NWT1, Q9NYA8
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 11, 2002
Last sequence update: June 26, 2007
Last modified: August 12, 2020
This is version 167 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
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