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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).By similarity

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Differentiation, Neurogenesis

Enzyme and pathway databases

BioCyciZFISH:ENSG00000173406-MONOMER.
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

HGNCiHGNC:2661. DAB1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

DisGeNETi1600.
MalaCardsiDAB1.
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

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. Interacts (phosphorylated on tyrosine residues) with CRK and CRKL (via respective SH2 domain). Interacts with DAB2IP, SIAH1, LRP1, LRP8 and VLDLR.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
Q9H9I03EBI-7875264,EBI-10309771
ARID5AC9J1Q03EBI-7875264,EBI-10176351
BHLHE40O145033EBI-7875264,EBI-711810
C1orf94Q6P1W53EBI-7875264,EBI-946029
CIARTQ8N3653EBI-7875264,EBI-10265133
DAZAP2Q150383EBI-7875264,EBI-724310
FAM103A1Q9BTL33EBI-7875264,EBI-744023
FAM168AQ925673EBI-7875264,EBI-7957930
hCG_2003792A0A024R5S03EBI-7875264,EBI-10188461
HMBOX1Q6NT763EBI-7875264,EBI-2549423
HNRNPLLQ8WVV93EBI-7875264,EBI-535849
HYAL3O438203EBI-7875264,EBI-3913399
KRTAP19-5Q3LI723EBI-7875264,EBI-1048945
KRTAP19-7Q3SYF93EBI-7875264,EBI-10241353
KRTAP8-1Q8IUC23EBI-7875264,EBI-10261141
LGALS9BQ3B8N23EBI-7875264,EBI-10240775
LGALS9CQ6DKI23EBI-7875264,EBI-9088829
LNX1Q8TBB13EBI-7875264,EBI-739832
MAGED1Q9Y5V33EBI-7875264,EBI-716006
MBNL1Q86VM63EBI-7875264,EBI-10225084
MBNL1Q9NR563EBI-7875264,EBI-2805004
MBNL3Q9NUK03EBI-7875264,EBI-6661142
NAF1Q96HR83EBI-7875264,EBI-2515597
PIN1Q135263EBI-7875264,EBI-714158
POGZQ7Z3K33EBI-7875264,EBI-1389308
PPIGQ134273EBI-7875264,EBI-396072
PRR20CP864793EBI-7875264,EBI-10172814
RBFOX2O432513EBI-7875264,EBI-746056
RHOXF2Q9BQY43EBI-7875264,EBI-372094
ROR2A1L4F53EBI-7875264,EBI-10172778
SIRPB1O00241-23EBI-7875264,EBI-10179231
SMAP2Q8WU793EBI-7875264,EBI-2822515
SNRPBP14678-23EBI-7875264,EBI-372475
STRBPQ96SI93EBI-7875264,EBI-740355
TCEA2Q155603EBI-7875264,EBI-710310
TCEA2Q86VL03EBI-7875264,EBI-10259904
TCEANCQ8N8B73EBI-7875264,EBI-954696
TMTC3Q6ZXV53EBI-7875264,EBI-10188441
TOLLIPQ6FIE93EBI-7875264,EBI-10249783
TOLLIPQ9H0E23EBI-7875264,EBI-74615
VENTXO952313EBI-7875264,EBI-10191303
WDYHV1Q96HA83EBI-7875264,EBI-741158
ZBTB32A0A0C4DGF13EBI-7875264,EBI-10188476
ZC3H10Q96K803EBI-7875264,EBI-742550
ZCCHC10Q8TBK63EBI-7875264,EBI-597063
ZNF488Q96MN93EBI-7875264,EBI-948288

Protein-protein interaction databases

BioGridi107970. 63 interactors.
IntActiO75553. 48 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.

Sequence similaritiesi

Contains 1 PID domain.PROSITE-ProRule annotation

Phylogenomic databases

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

Family and domain databases

Gene3Di2.30.29.30. 1 hit.
InterProiIPR011993. PH_dom-like.
IPR006020. PTB/PI_dom.
[Graphical view]
PfamiPF00640. PID. 1 hit.
[Graphical view]
SMARTiSM00462. PTB. 1 hit.
[Graphical view]
SUPFAMiSSF50729. SSF50729. 1 hit.
PROSITEiPS01179. PID. 1 hit.
[Graphical view]

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 rs1855377dbSNPEnsembl.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

Cross-referencesi

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.

3D structure databases

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

Protein-protein interaction databases

BioGridi107970. 63 interactors.
IntActiO75553. 48 interactors.
MINTiMINT-156038.

PTM databases

iPTMnetiO75553.
PhosphoSitePlusiO75553.

Polymorphism and mutation databases

BioMutaiDAB1.

Proteomic databases

PeptideAtlasiO75553.
PRIDEiO75553.

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

CTDi1600.
DisGeNETi1600.
GeneCardsiDAB1.
HGNCiHGNC:2661. DAB1.
HPAiCAB032329.
HPA052033.
HPA067495.
MalaCardsiDAB1.
MIMi603448. gene.
neXtProtiNX_O75553.
OpenTargetsiENSG00000173406.
PharmGKBiPA27131.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciZFISH:ENSG00000173406-MONOMER.
ReactomeiR-HSA-8866376. Reelin signalling pathway.
SignaLinkiO75553.
SIGNORiO75553.

Miscellaneous databases

ChiTaRSiDAB1. human.
GeneWikiiDAB1.
GenomeRNAii1600.
PROiO75553.
SOURCEiSearch...

Gene expression databases

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

Family and domain databases

Gene3Di2.30.29.30. 1 hit.
InterProiIPR011993. PH_dom-like.
IPR006020. PTB/PI_dom.
[Graphical view]
PfamiPF00640. PID. 1 hit.
[Graphical view]
SMARTiSM00462. PTB. 1 hit.
[Graphical view]
SUPFAMiSSF50729. SSF50729. 1 hit.
PROSITEiPS01179. PID. 1 hit.
[Graphical view]
ProtoNetiSearch...

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 historyi
Integrated into UniProtKB/Swiss-Prot: February 11, 2002
Last sequence update: June 26, 2007
Last modified: November 2, 2016
This is version 134 of the entry and version 3 of the sequence. [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
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.