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Protein

Disks large homolog 3

Gene

DLG3

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

Functioni

Required for learning most likely through its role in synaptic plasticity following NMDA receptor signaling.

GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

ReactomeiR-HSA-447038 NrCAM interactions
R-HSA-451308 Activation of Ca-permeable Kainate Receptor
R-HSA-6794361 Neurexins and neuroligins
R-HSA-8849932 Synaptic adhesion-like molecules

Names & Taxonomyi

Protein namesi
Recommended name:
Disks large homolog 3
Alternative name(s):
Neuroendocrine-DLG
Synapse-associated protein 102
Short name:
SAP-102
Short name:
SAP102
XLMR
Gene namesi
Name:DLG3
Synonyms:KIAA1232
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000082458.11
HGNCiHGNC:2902 DLG3
MIMi300189 gene
neXtProtiNX_Q92796

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

Mental retardation, X-linked 90 (MRX90)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations.
See also OMIM:300850

Keywords - Diseasei

Mental retardation

Organism-specific databases

DisGeNETi1741
MalaCardsiDLG3
MIMi300850 phenotype
OpenTargetsiENSG00000082458
Orphaneti777 X-linked non-syndromic intellectual disability
PharmGKBiPA164741439

Polymorphism and mutation databases

BioMutaiDLG3
DMDMi218512007

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000945571 – 817Disks large homolog 3Add BLAST817
Isoform 3 (identifier: Q92796-3)
Initiator methionineiRemovedCombined sources

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei139PhosphoserineBy similarity1
Modified residuei673PhosphotyrosineBy similarity1
Isoform 3 (identifier: Q92796-3)
Modified residuei1N-acetylmethionineCombined sources1
Modified residuei2N-acetylmethionineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ92796
MaxQBiQ92796
PaxDbiQ92796
PeptideAtlasiQ92796
PRIDEiQ92796
ProteomicsDBi75474
75475 [Q92796-2]
75476 [Q92796-3]

PTM databases

iPTMnetiQ92796
PhosphoSitePlusiQ92796

Expressioni

Gene expression databases

BgeeiENSG00000082458
CleanExiHS_DLG3
ExpressionAtlasiQ92796 baseline and differential
GenevisibleiQ92796 HS

Organism-specific databases

HPAiHPA001733
HPA078130

Interactioni

Subunit structurei

Interacts through its PDZ domains with NETO1, GRIN2B and SYNGAP1. Interacts through its guanylate kinase-like domain with DLGAP1, DLGAP2, DLGAP3 and DLGAP4. Interacts with FLTP/C1orf192 (By similarity). Interacts through its PDZ domains with APC. Interacts through its first two PDZ domains with ERBB4. Interacts through its third PDZ domain with NLGN1, and probably with NLGN2 and NLGN3. Interacts with FRMPD4 (via C-terminus). Interacts with LRFN1, LRFN2 and LRFN4.By similarity5 Publications

Binary interactionsi

Show more details

GO - Molecular functioni

Protein-protein interaction databases

BioGridi108085, 71 interactors
IntActiQ92796, 39 interactors
MINTiQ92796
STRINGi9606.ENSP00000363480

Structurei

Secondary structure

1817
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi127 – 135Combined sources9
Beta strandi142 – 147Combined sources6
Beta strandi160 – 165Combined sources6
Helixi170 – 174Combined sources5
Beta strandi182 – 186Combined sources5
Helixi196 – 205Combined sources10
Beta strandi208 – 217Combined sources10
Beta strandi224 – 230Combined sources7
Beta strandi238 – 242Combined sources5
Beta strandi255 – 260Combined sources6
Helixi265 – 269Combined sources5
Beta strandi277 – 281Combined sources5
Helixi291 – 299Combined sources9
Beta strandi303 – 310Combined sources8
Beta strandi383 – 390Combined sources8
Beta strandi396 – 398Combined sources3
Beta strandi416 – 418Combined sources3
Helixi419 – 422Combined sources4
Beta strandi431 – 437Combined sources7
Helixi445 – 453Combined sources9
Beta strandi457 – 464Combined sources8
Helixi467 – 475Combined sources9

3D structure databases

ProteinModelPortaliQ92796
SMRiQ92796
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ92796

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini130 – 217PDZ 1PROSITE-ProRule annotationAdd BLAST88
Domaini226 – 311PDZ 2PROSITE-ProRule annotationAdd BLAST86
Domaini379 – 465PDZ 3PROSITE-ProRule annotationAdd BLAST87
Domaini501 – 571SH3PROSITE-ProRule annotationAdd BLAST71
Domaini627 – 802Guanylate kinase-likePROSITE-ProRule annotationAdd BLAST176

Sequence similaritiesi

Belongs to the MAGUK family.Curated

Keywords - Domaini

Repeat, SH3 domain

Phylogenomic databases

eggNOGiKOG0708 Eukaryota
COG0194 LUCA
GeneTreeiENSGT00760000118866
HOGENOMiHOG000232102
HOVERGENiHBG107814
InParanoidiQ92796
KOiK21098
OMAiASQRWAW
PhylomeDBiQ92796
TreeFamiTF323171

Family and domain databases

CDDicd12029 SH3_DLG3, 1 hit
InterProiView protein in InterPro
IPR016313 DLG1-like
IPR019590 DLG1_PEST_dom
IPR035763 DLG3_SH3
IPR008145 GK/Ca_channel_bsu
IPR008144 Guanylate_kin-like_dom
IPR020590 Guanylate_kinase_CS
IPR027417 P-loop_NTPase
IPR001478 PDZ
IPR019583 PDZ_assoc
IPR036034 PDZ_sf
IPR036028 SH3-like_dom_sf
IPR001452 SH3_domain
PfamiView protein in Pfam
PF00625 Guanylate_kin, 1 hit
PF00595 PDZ, 3 hits
PF10600 PDZ_assoc, 1 hit
PF00018 SH3_1, 1 hit
PIRSFiPIRSF001741 MAGUK_DLGH, 1 hit
SMARTiView protein in SMART
SM00072 GuKc, 1 hit
SM01277 MAGUK_N_PEST, 1 hit
SM00228 PDZ, 3 hits
SM00326 SH3, 1 hit
SUPFAMiSSF50044 SSF50044, 2 hits
SSF50156 SSF50156, 3 hits
SSF52540 SSF52540, 1 hit
PROSITEiView protein in PROSITE
PS00856 GUANYLATE_KINASE_1, 1 hit
PS50052 GUANYLATE_KINASE_2, 1 hit
PS50106 PDZ, 3 hits
PS50002 SH3, 1 hit

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q92796-1) [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
MHKHQHCCKC PECYEVTRLA ALRRLEPPGY GDWQVPDPYG PGGGNGASAG
60 70 80 90 100
YGGYSSQTLP SQAGATPTPR TKAKLIPTGR DVGPVPPKPV PGKSTPKLNG
110 120 130 140 150
SGPSWWPECT CTNRDWYEQV NGSDGMFKYE EIVLERGNSG LGFSIAGGID
160 170 180 190 200
NPHVPDDPGI FITKIIPGGA AAMDGRLGVN DCVLRVNEVD VSEVVHSRAV
210 220 230 240 250
EALKEAGPVV RLVVRRRQPP PETIMEVNLL KGPKGLGFSI AGGIGNQHIP
260 270 280 290 300
GDNSIYITKI IEGGAAQKDG RLQIGDRLLA VNNTNLQDVR HEEAVASLKN
310 320 330 340 350
TSDMVYLKVA KPGSLHLNDM YAPPDYASTF TALADNHISH NSSLGYLGAV
360 370 380 390 400
ESKVSYPAPP QVPPTRYSPI PRHMLAEEDF TREPRKIILH KGSTGLGFNI
410 420 430 440 450
VGGEDGEGIF VSFILAGGPA DLSGELRRGD RILSVNGVNL RNATHEQAAA
460 470 480 490 500
ALKRAGQSVT IVAQYRPEEY SRFESKIHDL REQMMNSSMS SGSGSLRTSE
510 520 530 540 550
KRSLYVRALF DYDRTRDSCL PSQGLSFSYG DILHVINASD DEWWQARLVT
560 570 580 590 600
PHGESEQIGV IPSKKRVEKK ERARLKTVKF HARTGMIESN RDFPGLSDDY
610 620 630 640 650
YGAKNLKGQE DAILSYEPVT RQEIHYARPV IILGPMKDRV NDDLISEFPH
660 670 680 690 700
KFGSCVPHTT RPRRDNEVDG QDYHFVVSRE QMEKDIQDNK FIEAGQFNDN
710 720 730 740 750
LYGTSIQSVR AVAERGKHCI LDVSGNAIKR LQQAQLYPIA IFIKPKSIEA
760 770 780 790 800
LMEMNRRQTY EQANKIYDKA MKLEQEFGEY FTAIVQGDSL EEIYNKIKQI
810
IEDQSGHYIW VPSPEKL
Length:817
Mass (Da):90,314
Last modified:December 16, 2008 - v2
Checksum:iCE125E9BEE3EEC66
GO
Isoform 2 (identifier: Q92796-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-336: Missing.
     337-381: HISHNSSLGY...RHMLAEEDFT → MERARKFSGS...LRSLRPGGDA
     592-606: DFPGLSDDYYGAKNL → SIKTKRKKSFRLSRKFPFYKSKENMAQESSIQEQGVTSNTSDSESSS

Note: No experimental confirmation available.
Show »
Length:512
Mass (Da):57,937
Checksum:i9330A330FF9F8FE5
GO
Isoform 3 (identifier: Q92796-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-483: Missing.
     592-606: DFPGLSDDYYGAKNL → SIKTKRKKSFRLSRKFPFYKSKENMAQESSIQEQGVTSNTSDSESSS

Note: No experimental confirmation available.Combined sources
Show »
Length:366
Mass (Da):42,112
Checksum:i91BEFB73D3CA7C8D
GO

Sequence cautioni

The sequence BAA86546 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti87P → L in AAB61453 (PubMed:9188857).Curated1
Sequence conflicti190D → E in AAB61453 (PubMed:9188857).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03659140G → R in a colorectal cancer sample; somatic mutation. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0437171 – 483Missing in isoform 3. 1 PublicationAdd BLAST483
Alternative sequenceiVSP_0359401 – 336Missing in isoform 2. 2 PublicationsAdd BLAST336
Alternative sequenceiVSP_035941337 – 381HISHN…EEDFT → MERARKFSGSGLAMGLGSAS ASAWRRASQRWAWPLRSLRP GGDA in isoform 2. 2 PublicationsAdd BLAST45
Alternative sequenceiVSP_035942592 – 606DFPGL…GAKNL → SIKTKRKKSFRLSRKFPFYK SKENMAQESSIQEQGVTSNT SDSESSS in isoform 2 and isoform 3. 2 PublicationsAdd BLAST15

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U49089 mRNA Translation: AAB61453.1
AB033058 mRNA Translation: BAA86546.1 Different initiation.
AK303377 mRNA Translation: BAG64433.1
AK304020 mRNA Translation: BAG64935.1
AK316518 mRNA Translation: BAH14889.1
AL139109 Genomic DNA No translation available.
AL139398 Genomic DNA No translation available.
CH471132 Genomic DNA Translation: EAX05333.1
CH471132 Genomic DNA Translation: EAX05335.1
CH471132 Genomic DNA Translation: EAX05337.1
CH471132 Genomic DNA Translation: EAX05338.1
BC093864 mRNA Translation: AAH93864.1
BC093866 mRNA Translation: AAH93866.1
CCDSiCCDS14403.1 [Q92796-1]
CCDS43967.1 [Q92796-2]
CCDS55439.1 [Q92796-3]
RefSeqiNP_001159750.1, NM_001166278.1 [Q92796-3]
NP_065781.1, NM_020730.2 [Q92796-2]
NP_066943.2, NM_021120.3 [Q92796-1]
XP_005262305.1, XM_005262248.3 [Q92796-3]
XP_016884815.1, XM_017029326.1 [Q92796-3]
UniGeneiHs.721586

Genome annotation databases

EnsembliENST00000374355; ENSP00000363475; ENSG00000082458 [Q92796-2]
ENST00000374360; ENSP00000363480; ENSG00000082458 [Q92796-1]
ENST00000542398; ENSP00000441393; ENSG00000082458 [Q92796-3]
GeneIDi1741
KEGGihsa:1741
UCSCiuc004dyi.3 human [Q92796-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiDLG3_HUMAN
AccessioniPrimary (citable) accession number: Q92796
Secondary accession number(s): B4E0H1
, D3DVU5, Q5JUW6, Q5JUW7, Q9ULI8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: December 16, 2008
Last modified: July 18, 2018
This is version 189 of the entry and version 2 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

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