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Protein

Disks large-associated protein 1

Gene

DLGAP1

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

Functioni

Part of the postsynaptic scaffold in neuronal cells.

GO - Biological processi

  • chemical synaptic transmission Source: UniProtKB
Complete GO annotation...

Enzyme and pathway databases

ReactomeiR-HSA-6794361. Interactions of neurexins and neuroligins at synapses.

Names & Taxonomyi

Protein namesi
Recommended name:
Disks large-associated protein 1
Short name:
DAP-1
Alternative name(s):
Guanylate kinase-associated protein
Short name:
hGKAP
PSD-95/SAP90-binding protein 1
SAP90/PSD-95-associated protein 1
Short name:
SAPAP1
Gene namesi
Name:DLGAP1
Synonyms:DAP1, GKAP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 18

Organism-specific databases

HGNCiHGNC:2905. DLGAP1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Membrane, Postsynaptic cell membrane, Synapse

Pathology & Biotechi

Organism-specific databases

DisGeNETi9229.
OpenTargetsiENSG00000170579.
PharmGKBiPA27361.

Polymorphism and mutation databases

BioMutaiDLGAP1.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001742881 – 977Disks large-associated protein 1Add BLAST977

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei169PhosphoserineBy similarity1
Modified residuei356PhosphoserineBy similarity1
Modified residuei359PhosphoserineBy similarity1
Modified residuei362PhosphoserineBy similarity1
Modified residuei366PhosphoserineBy similarity1
Modified residuei383PhosphoserineBy similarity1
Modified residuei412PhosphoserineBy similarity1
Modified residuei415PhosphoserineBy similarity1
Modified residuei419PhosphoserineBy similarity1
Modified residuei422PhosphoserineBy similarity1
Modified residuei431PhosphoserineBy similarity1
Modified residuei503PhosphoserineBy similarity1
Modified residuei510PhosphoserineBy similarity1
Modified residuei562PhosphoserineBy similarity1
Modified residuei563PhosphothreonineBy similarity1
Modified residuei565PhosphoserineBy similarity1
Modified residuei589PhosphoserineBy similarity1
Modified residuei590PhosphothreonineBy similarity1
Modified residuei592PhosphoserineBy similarity1
Modified residuei595PhosphoserineBy similarity1
Modified residuei932PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiO14490.
PeptideAtlasiO14490.
PRIDEiO14490.

PTM databases

iPTMnetiO14490.
PhosphoSitePlusiO14490.

Expressioni

Tissue specificityi

Expressed in brain.

Gene expression databases

BgeeiENSG00000170579.
CleanExiHS_DLGAP1.
ExpressionAtlasiO14490. baseline and differential.
GenevisibleiO14490. HS.

Interactioni

Subunit structurei

Interacts with guanylate kinase-like domain of DLG1, DLG2, DLG3, DLG4 and AIP1. Interacts with the PDZ domain of SHANK1, SHANK2 and SHANK3. Found in a complex with DLG4 and SHANK1, SHANK2 or SHANK3. Found in a complex with DLG4 and BEGAIN. Interacts with DYL2 and LRFN1 (By similarity).By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
Dlg1Q626962EBI-1753207,EBI-389325From a different organism.
DLG4P783525EBI-1753207,EBI-80389
GRB2P629933EBI-1753207,EBI-401755
NCK1P163334EBI-1753207,EBI-389883

Protein-protein interaction databases

BioGridi114660. 17 interactors.
IntActiO14490. 12 interactors.
MINTiMINT-2795054.
STRINGi9606.ENSP00000316377.

Structurei

3D structure databases

ProteinModelPortaliO14490.
SMRiO14490.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni650 – 661Interaction with DYL2By similarityAdd BLAST12
Regioni672 – 683Interaction with DYL2By similarityAdd BLAST12

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi975 – 977PDZ-bindingBy similarity3

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi622 – 630Poly-Thr9

Sequence similaritiesi

Belongs to the SAPAP family.Curated

Phylogenomic databases

eggNOGiKOG3971. Eukaryota.
ENOG4111JKV. LUCA.
GeneTreeiENSGT00550000074473.
HOGENOMiHOG000015346.
HOVERGENiHBG018957.
InParanoidiO14490.
KOiK15008.
OMAiFMESYNT.
OrthoDBiEOG091G0J9O.
PhylomeDBiO14490.
TreeFamiTF321382.

Family and domain databases

InterProiIPR030524. DLGAP1.
IPR005026. SAPAP.
[Graphical view]
PANTHERiPTHR12353:SF7. PTHR12353:SF7. 2 hits.
PfamiPF03359. GKAP. 1 hit.
[Graphical view]

Sequences (7)i

Sequence statusi: Complete.

This entry describes 7 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O14490-1) [UniParc]FASTAAdd to basket
Also known as: DAP1-alpha

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
MKGLSGSRSH HHGVTCDSAC DSLSHHSDRK PYLLSPVEHH PADHPYYTQR
60 70 80 90 100
NSFQAECVGP FSDPLASSTF PRRHYTSQQE LKDECALVPR TLATKANRIP
110 120 130 140 150
ANLLDQFERQ LPLSRDGYHT LQYKRTAVEH RSDSPGRIRH LVHSVQKLFT
160 170 180 190 200
KSHSLEGPSK GSVNGGKASP DEAQAARYGK RSKSKERRAE PKARPSTSPG
210 220 230 240 250
WWSSDDNLDG DMCIYHAPSG VMTMGRCPDR SASQYFLEAY NTISEQAVKA
260 270 280 290 300
SRSNNDVKCS TCANLPVSLD TPLLKKSAWS STLTVSRARE VYQKASVNMD
310 320 330 340 350
QAMVKSESCQ QERSCQYLQV PQDEWTGYTP RGKDDEIPCR RMRSGSYIKA
360 370 380 390 400
MGDEDSGDSD TSPKPSPKVA ARRESYLKAT QPSLTELTTL KISNEHSPKL
410 420 430 440 450
QIRSHSYLRA VSEVSINRSL DSLDPAGLLT SPKFRSRNES YMRAMSTISQ
460 470 480 490 500
VSEMEVNGQF ESVCESVFSE LESQAVEALD LPMPGCFRMR SHSYVRAIEK
510 520 530 540 550
GCSQDDECVS LRSSSPPRTT TTVRTIQSST VSSCITTYKK TPPPVPPRTT
560 570 580 590 600
TKPFISITAQ SSTESAQDAY MDGQGQRGDI ISQSGLSNST ESLDSMKALT
610 620 630 640 650
AAIEAANAQI HGPASQHMGN NTATVTTTTT IATVTTEDRK KDHFKKNRCL
660 670 680 690 700
SIGIQVDDAE EPDKTGENKA PSKFQSVGVQ VEEEKCFRRF TRSNSVTTAV
710 720 730 740 750
QADLDFHDNL ENSLESIEDN SCPGPMARQF SRDASTSTVS IQGSGNHYHA
760 770 780 790 800
CAADDDFDTD FDPSILPPPD PWIDSITEDP LEAVQRSVCH RDGHWFLKLL
810 820 830 840 850
QAERDRMEGW CQQMEREERE NNLPEDILGK IRTAVGSAQL LMAQKFYQFR
860 870 880 890 900
ELCEENLNPN AHPRPTSQDL AGFWDMLQLS IENISMKFDE LHQLKANNWK
910 920 930 940 950
QMDPLDKKER RAPPPVPKKP AKGPAPLIRE RSLESSQRQE ARKRLMAAKR
960 970
AASVRQNSAT ESAESIEIYI PEAQTRL
Length:977
Mass (Da):108,873
Last modified:January 1, 1998 - v1
Checksum:i670F72B17D9BE667
GO
Isoform 2 (identifier: O14490-2) [UniParc]FASTAAdd to basket
Also known as: DAP1-beta

The sequence of this isoform differs from the canonical sequence as follows:
     1-302: Missing.
     303-319: MVKSESCQQERSCQYLQ → MNLIFHKDILFGIPANK

Show »
Length:675
Mass (Da):75,261
Checksum:iA88274F7F3D9F5ED
GO
Isoform 3 (identifier: O14490-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-302: Missing.
     303-319: MVKSESCQQERSCQYLQ → MNLIFHKDILFGIPANK
     909-929: ERRAPPPVPKKPAKGPAPLIR → VEQCRFCMVHLKTCTNTGQSK
     930-977: Missing.

Show »
Length:627
Mass (Da):69,969
Checksum:i2326123341316726
GO
Isoform 4 (identifier: O14490-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-24: MKGLSGSRSHHHGVTCDSACDSLS → MIDLFKAEWVSSVCVQVSRNGRTD
     25-318: Missing.

Note: No experimental confirmation available.
Show »
Length:683
Mass (Da):76,159
Checksum:i8F23FC02956683BE
GO
Isoform 5 (identifier: O14490-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-31: MKGLSGSRSHHHGVTCDSACDSLSHHSDRKP → MDLKTLKLFNSQLRCGWLLYIWNKAFMAHLR
     32-319: Missing.
     530-557: Missing.

Note: No experimental confirmation available.
Show »
Length:661
Mass (Da):74,058
Checksum:i5A96B64BA7D70469
GO
Isoform 6 (identifier: O14490-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-17: MKGLSGSRSHHHGVTCD → MNLIFHKDILFGIPANK
     18-31: Missing.
     32-319: Missing.
     530-530: T → TGVIKLSSAVE

Note: No experimental confirmation available.
Show »
Length:685
Mass (Da):76,245
Checksum:iACBD1D7BB4CC8756
GO
Isoform 7 (identifier: O14490-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     909-929: ERRAPPPVPKKPAKGPAPLIR → VEQCRFCMVHLKTCTNTGQSK
     930-977: Missing.

Note: No experimental confirmation available.
Show »
Length:929
Mass (Da):103,581
Checksum:i00E65FE3F36B7D6B
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti734A → P in AAC51119 (PubMed:9024696).Curated1
Sequence conflicti740S → T in AAC51119 (PubMed:9024696).Curated1
Sequence conflicti752 – 753AA → SP in AAC51119 (PubMed:9024696).Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_053648816R → Q.Corresponds to variant rs35822832dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0060031 – 302Missing in isoform 2 and isoform 3. 2 PublicationsAdd BLAST302
Alternative sequenceiVSP_0437181 – 31MKGLS…SDRKP → MDLKTLKLFNSQLRCGWLLY IWNKAFMAHLR in isoform 5. 1 PublicationAdd BLAST31
Alternative sequenceiVSP_0432221 – 24MKGLS…CDSLS → MIDLFKAEWVSSVCVQVSRN GRTD in isoform 4. 1 PublicationAdd BLAST24
Alternative sequenceiVSP_0437191 – 17MKGLS…GVTCD → MNLIFHKDILFGIPANK in isoform 6. 1 PublicationAdd BLAST17
Alternative sequenceiVSP_04372018 – 31Missing in isoform 6. 1 PublicationAdd BLAST14
Alternative sequenceiVSP_04322325 – 318Missing in isoform 4. 1 PublicationAdd BLAST294
Alternative sequenceiVSP_04372132 – 319Missing in isoform 5 and isoform 6. 1 PublicationAdd BLAST288
Alternative sequenceiVSP_006004303 – 319MVKSE…CQYLQ → MNLIFHKDILFGIPANK in isoform 2 and isoform 3. 2 PublicationsAdd BLAST17
Alternative sequenceiVSP_043722530 – 557Missing in isoform 5. 1 PublicationAdd BLAST28
Alternative sequenceiVSP_043723530T → TGVIKLSSAVE in isoform 6. 1 Publication1
Alternative sequenceiVSP_006005909 – 929ERRAP…APLIR → VEQCRFCMVHLKTCTNTGQS K in isoform 3 and isoform 7. 2 PublicationsAdd BLAST21
Alternative sequenceiVSP_006006930 – 977Missing in isoform 3 and isoform 7. 2 PublicationsAdd BLAST48

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB000277 mRNA. Translation: BAA23258.1.
AB000276 mRNA. Translation: BAA23257.1.
U67988 mRNA. Translation: AAC51119.1.
AK294717 mRNA. Translation: BAH11858.1.
AK294747 mRNA. Translation: BAH11868.1.
AK299880 mRNA. Translation: BAH13160.1.
AK316099 mRNA. Translation: BAH14470.1.
AP002472 Genomic DNA. No translation available.
AP002478 Genomic DNA. No translation available.
AP005130 Genomic DNA. No translation available.
AP005204 Genomic DNA. No translation available.
AP005241 Genomic DNA. No translation available.
CH471113 Genomic DNA. Translation: EAX01654.1.
CH471113 Genomic DNA. Translation: EAX01658.1.
CH471113 Genomic DNA. Translation: EAX01659.1.
BC136453 mRNA. Translation: AAI36454.1.
BC136454 mRNA. Translation: AAI36455.1.
CCDSiCCDS11836.1. [O14490-1]
CCDS42406.1. [O14490-2]
CCDS56049.1. [O14490-3]
CCDS56050.1. [O14490-6]
CCDS56051.1. [O14490-4]
CCDS56052.1. [O14490-5]
CCDS56053.1. [O14490-7]
PIRiT00014.
RefSeqiNP_001003809.1. NM_001003809.2. [O14490-2]
NP_001229690.1. NM_001242761.1. [O14490-7]
NP_001229691.1. NM_001242762.1. [O14490-5]
NP_001229692.1. NM_001242763.1.
NP_001229693.1. NM_001242764.1. [O14490-4]
NP_001229694.1. NM_001242765.1. [O14490-3]
NP_001229695.1. NM_001242766.1. [O14490-6]
NP_004737.2. NM_004746.3. [O14490-1]
UniGeneiHs.594640.
Hs.654793.
Hs.673247.

Genome annotation databases

EnsembliENST00000315677; ENSP00000316377; ENSG00000170579. [O14490-1]
ENST00000400145; ENSP00000383010; ENSG00000170579. [O14490-3]
ENST00000400147; ENSP00000383011; ENSG00000170579. [O14490-2]
ENST00000400155; ENSP00000383019; ENSG00000170579. [O14490-4]
ENST00000534970; ENSP00000437817; ENSG00000170579. [O14490-5]
ENST00000539435; ENSP00000446312; ENSG00000170579. [O14490-6]
ENST00000581527; ENSP00000463864; ENSG00000170579. [O14490-7]
ENST00000581699; ENSP00000462848; ENSG00000170579. [O14490-4]
GeneIDi9229.
KEGGihsa:9229.
UCSCiuc002kme.3. human. [O14490-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB000277 mRNA. Translation: BAA23258.1.
AB000276 mRNA. Translation: BAA23257.1.
U67988 mRNA. Translation: AAC51119.1.
AK294717 mRNA. Translation: BAH11858.1.
AK294747 mRNA. Translation: BAH11868.1.
AK299880 mRNA. Translation: BAH13160.1.
AK316099 mRNA. Translation: BAH14470.1.
AP002472 Genomic DNA. No translation available.
AP002478 Genomic DNA. No translation available.
AP005130 Genomic DNA. No translation available.
AP005204 Genomic DNA. No translation available.
AP005241 Genomic DNA. No translation available.
CH471113 Genomic DNA. Translation: EAX01654.1.
CH471113 Genomic DNA. Translation: EAX01658.1.
CH471113 Genomic DNA. Translation: EAX01659.1.
BC136453 mRNA. Translation: AAI36454.1.
BC136454 mRNA. Translation: AAI36455.1.
CCDSiCCDS11836.1. [O14490-1]
CCDS42406.1. [O14490-2]
CCDS56049.1. [O14490-3]
CCDS56050.1. [O14490-6]
CCDS56051.1. [O14490-4]
CCDS56052.1. [O14490-5]
CCDS56053.1. [O14490-7]
PIRiT00014.
RefSeqiNP_001003809.1. NM_001003809.2. [O14490-2]
NP_001229690.1. NM_001242761.1. [O14490-7]
NP_001229691.1. NM_001242762.1. [O14490-5]
NP_001229692.1. NM_001242763.1.
NP_001229693.1. NM_001242764.1. [O14490-4]
NP_001229694.1. NM_001242765.1. [O14490-3]
NP_001229695.1. NM_001242766.1. [O14490-6]
NP_004737.2. NM_004746.3. [O14490-1]
UniGeneiHs.594640.
Hs.654793.
Hs.673247.

3D structure databases

ProteinModelPortaliO14490.
SMRiO14490.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114660. 17 interactors.
IntActiO14490. 12 interactors.
MINTiMINT-2795054.
STRINGi9606.ENSP00000316377.

PTM databases

iPTMnetiO14490.
PhosphoSitePlusiO14490.

Polymorphism and mutation databases

BioMutaiDLGAP1.

Proteomic databases

PaxDbiO14490.
PeptideAtlasiO14490.
PRIDEiO14490.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000315677; ENSP00000316377; ENSG00000170579. [O14490-1]
ENST00000400145; ENSP00000383010; ENSG00000170579. [O14490-3]
ENST00000400147; ENSP00000383011; ENSG00000170579. [O14490-2]
ENST00000400155; ENSP00000383019; ENSG00000170579. [O14490-4]
ENST00000534970; ENSP00000437817; ENSG00000170579. [O14490-5]
ENST00000539435; ENSP00000446312; ENSG00000170579. [O14490-6]
ENST00000581527; ENSP00000463864; ENSG00000170579. [O14490-7]
ENST00000581699; ENSP00000462848; ENSG00000170579. [O14490-4]
GeneIDi9229.
KEGGihsa:9229.
UCSCiuc002kme.3. human. [O14490-1]

Organism-specific databases

CTDi9229.
DisGeNETi9229.
GeneCardsiDLGAP1.
HGNCiHGNC:2905. DLGAP1.
MIMi605445. gene.
neXtProtiNX_O14490.
OpenTargetsiENSG00000170579.
PharmGKBiPA27361.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3971. Eukaryota.
ENOG4111JKV. LUCA.
GeneTreeiENSGT00550000074473.
HOGENOMiHOG000015346.
HOVERGENiHBG018957.
InParanoidiO14490.
KOiK15008.
OMAiFMESYNT.
OrthoDBiEOG091G0J9O.
PhylomeDBiO14490.
TreeFamiTF321382.

Enzyme and pathway databases

ReactomeiR-HSA-6794361. Interactions of neurexins and neuroligins at synapses.

Miscellaneous databases

ChiTaRSiDLGAP1. human.
GeneWikiiDLGAP1.
GenomeRNAii9229.
PROiO14490.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000170579.
CleanExiHS_DLGAP1.
ExpressionAtlasiO14490. baseline and differential.
GenevisibleiO14490. HS.

Family and domain databases

InterProiIPR030524. DLGAP1.
IPR005026. SAPAP.
[Graphical view]
PANTHERiPTHR12353:SF7. PTHR12353:SF7. 2 hits.
PfamiPF03359. GKAP. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiDLGP1_HUMAN
AccessioniPrimary (citable) accession number: O14490
Secondary accession number(s): A8MWN8
, B2RMU8, B7WPA1, B7Z2H2, B7Z2I2, B7Z9Y4, O14489, P78335
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 26, 2001
Last sequence update: January 1, 1998
Last modified: November 2, 2016
This is version 133 of the entry and version 1 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 18
    Human chromosome 18: 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.