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Protein

Disabled homolog 1

Gene

DAB1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein
Biological processDifferentiation, Neurogenesis

Enzyme and pathway databases

ReactomeiR-HSA-8866376. Reelin signalling pathway.
SignaLinkiO75553.
SIGNORiO75553.

Names & Taxonomyi

Protein namesi
Recommended name:
Disabled homolog 1
Gene namesi
Name:DAB1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000173406.15.
HGNCiHGNC:2661. DAB1.

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; Source: COMPARTMENTS

Pathology & Biotechi

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

DisGeNETi1600.
MIMi615945. phenotype.
OpenTargetsiENSG00000173406.
PharmGKBiPA27131.

Polymorphism and mutation databases

BioMutaiDAB1.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000797671 – 588Disabled homolog 1Add BLAST588

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei198PhosphotyrosineBy similarity1
Modified residuei220PhosphotyrosineBy similarity1
Modified residuei232PhosphotyrosineBy similarity1
Modified residuei524Phosphoserine; by CDK5By similarity1

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

PeptideAtlasiO75553.
PRIDEiO75553.

PTM databases

iPTMnetiO75553.
PhosphoSitePlusiO75553.

Expressioni

Tissue specificityi

Mainly expressed in brain.1 Publication

Gene expression databases

BgeeiENSG00000173406.
ExpressionAtlasiO75553. baseline and differential.
GenevisibleiO75553. HS.

Organism-specific databases

HPAiCAB032329.
HPA052033.
HPA067495.

Interactioni

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

Binary interactionsi

Show more details

GO - Molecular functioni

Protein-protein interaction databases

BioGridi107970. 65 interactors.
ELMiO75553.
IntActiO75553. 49 interactors.
MINTiMINT-156038.

Structurei

3D structure databases

ProteinModelPortaliO75553.
SMRiO75553.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini36 – 189PIDPROSITE-ProRule annotationAdd BLAST154

Domaini

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

Phylogenomic databases

GeneTreeiENSGT00520000055585.
HOVERGENiHBG018945.
InParanoidiO75553.
KOiK20054.
OMAiLPSFWGQ.
OrthoDBiEOG091G0382.
PhylomeDBiO75553.
TreeFamiTF316724.

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.
SUPFAMiSSF50729. SSF50729. 1 hit.
PROSITEiView protein in PROSITE
PS01179. PID. 1 hit.

Sequences (6)i

Sequence statusi: Complete.

This entry describes 6 isoformsi produced by alternative splicing. AlignAdd to basket

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
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

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
Natural variantiVAR_05685771V → I. Corresponds to variant dbSNP:rs1855377Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS607.1. [O75553-6]
RefSeqiNP_066566.3. NM_021080.3. [O75553-6]
UniGeneiHs.477370.

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]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiDAB1_HUMAN
AccessioniPrimary (citable) accession number: O75553
Secondary accession number(s): A4FU90
, B3KTG3, Q4LE59, Q5T6M6, Q5T6M9, Q5T835, Q5T836, Q5T837, Q6NWS9, Q6NWT0, Q6NWT1, Q9NYA8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 11, 2002
Last sequence update: June 26, 2007
Last modified: November 22, 2017
This is version 144 of the entry and version 3 of the sequence. See complete history.
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.

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