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Entry version 158 (08 May 2019)
Sequence version 3 (26 Jun 2007)
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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

GO - Biological processi

<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

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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_manual">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

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.
See also OMIM:615945

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

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.<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_processing_section">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

Encyclopedia of Proteome Dynamics

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EPDi
O75553

PeptideAtlas

More...
PeptideAtlasi
O75553

PRoteomics IDEntifications database

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PRIDEi
O75553

ProteomicsDB human proteome resource

More...
ProteomicsDBi
50077
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.

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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

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Bgeei
ENSG00000173406 Expressed in 120 organ(s), highest expression level in frontal cortex

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
O75553 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O75553 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB032329
HPA052033
HPA067495

<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_section">'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_section">'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_section%27">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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
107970, 66 interactors

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

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ELMi
O75553

Protein interaction database and analysis system

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IntActi
O75553, 50 interactors

Molecular INTeraction database

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MINTi
O75553

STRING: functional protein association networks

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STRINGi
9606.ENSP00000360280

<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

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SMRi
O75553

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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_and_domains_section">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

Ensembl GeneTree

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GeneTreei
ENSGT00940000158038

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
O75553

KEGG Orthology (KO)

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KOi
K20054

Identification of Orthologs from Complete Genome Data

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OMAi
DQPSLSC

Database of Orthologous Groups

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OrthoDBi
279276at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
O75553

TreeFam database of animal gene trees

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TreeFami
TF316724

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.30.29.30, 1 hit

Integrated resource of protein families, domains and functional sites

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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

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SMARTi
View protein in SMART
SM00462 PTB, 1 hit

PROSITE; a protein domain and family database

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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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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.<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 '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.

« 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
Note: No experimental confirmation available.
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.

Note: No experimental confirmation available.
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.

Note: No experimental confirmation available.
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.

Note: No experimental confirmation available.
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.

Note: No experimental confirmation available.
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

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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

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

Genome annotation databases

Ensembl eukaryotic genome annotation project

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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

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GeneIDi
1600

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:1600

UCSC genome browser

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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...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107970, 66 interactors
ELMiO75553
IntActiO75553, 50 interactors
MINTiO75553
STRINGi9606.ENSP00000360280

PTM databases

iPTMnetiO75553
PhosphoSitePlusiO75553

Polymorphism and mutation databases

BioMutaiDAB1

Proteomic databases

EPDiO75553
PeptideAtlasiO75553
PRIDEiO75553
ProteomicsDBi50077
50078 [O75553-2]
50079 [O75553-3]
50080 [O75553-4]
50081 [O75553-5]
50082 [O75553-6]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

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

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CTDi
1600
DisGeNETi1600

GeneCards: human genes, protein and diseases

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GeneCardsi
DAB1
HGNCiHGNC:2661 DAB1
HPAiCAB032329
HPA052033
HPA067495
MalaCardsiDAB1
MIMi603448 gene
615945 phenotype
neXtProtiNX_O75553
OpenTargetsiENSG00000173406
Orphaneti363710 Spinocerebellar ataxia type 37
PharmGKBiPA27131

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

GeneTreeiENSGT00940000158038
InParanoidiO75553
KOiK20054
OMAiDQPSLSC
OrthoDBi279276at2759
PhylomeDBiO75553
TreeFamiTF316724

Enzyme and pathway databases

ReactomeiR-HSA-8866376 Reelin signalling pathway
SignaLinkiO75553
SIGNORiO75553

Miscellaneous databases

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

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ChiTaRSi
DAB1 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
DAB1

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

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GenomeRNAii
1600

Protein Ontology

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PROi
PR:O75553

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000173406 Expressed in 120 organ(s), highest expression level in frontal cortex
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

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ProtoNeti
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_and_isoforms">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: May 8, 2019
This is version 158 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

Complete proteome, Reference proteome

Documents

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