DMD_HUMAN

G2C

SynGO

SynaptomeDB

Anchors the extracellular matrix to the cytoskeleton via F-actin. Ligand for dystroglycan. Component of the dystrophin-associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peripheral and central nervous systems and has a structural function in stabilizing the sarcolemma. Also implicated in signaling events and synaptic transmission. [View more on UniProt]

Transmembrane

Phase separation

ELM

Phosphorylation

PFAM

Coiled coil

Anchor

Disordered

Interacting regions

Sequence

LOADING 64%

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DMD_HUMAN

DTNA_HUMAN

LOADING 67%

DMD_HUMAN

SNTA1_HUMAN

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DMD_HUMAN

DISC1_HUMAN

LOADING 67%

DMD_HUMAN

DAG1_HUMAN

LOADING 67%

DMD_HUMAN

LOADING 67%

Download full PS network for entry.

Interacting regions

Canonical [DMD_HUMAN]

Isoform [A0A0S2Z3B2] alignment

Isoform [A0A0S2Z3B2] sequence

Isoform [A0A075B6G3] alignment

Isoform [A0A075B6G3] sequence

Isoform [P11532-11] alignment

Isoform [P11532-11] sequence

Isoform [P11532-12] alignment

Isoform [P11532-12] sequence

Isoform [P11532-13] alignment

Isoform [P11532-13] sequence

Isoform [P11532-14] alignment

Isoform [P11532-14] sequence

Isoform [P11532-15] alignment

Isoform [P11532-15] sequence

Isoform [P11532-16] alignment

Isoform [P11532-16] sequence

Isoform [P11532-17] alignment

Isoform [P11532-17] sequence

Isoform [P11532-18] alignment

Isoform [P11532-18] sequence

Isoform [A0A5H1ZRP7] alignment

Isoform [A0A5H1ZRP7] sequence

Isoform [A0A5H1ZRP8] alignment

Isoform [A0A5H1ZRP8] sequence

Isoform [A0A5H1ZRP9] alignment

Isoform [A0A5H1ZRP9] sequence

Isoform [A0A5H1ZRQ1] alignment

Isoform [A0A5H1ZRQ1] sequence

Isoform [A0A5H1ZRQ8] alignment

Isoform [A0A5H1ZRQ8] sequence

LOADING 19%

Position	Amino acid	Mutation	Disease	Overlap with binding region
54	Leu	Arg	Duchennemusculardystrophy(DMD)	-
168	Ala	Asp	Beckermusculardystrophy(BMD)	-
231	Tyr	Asn	Beckermusculardystrophy(BMD)	-
773	Lys	Glu	Duchennemusculardystrophy(DMD)	-
2921	His	Arg	Beckermusculardystrophy(BMD)	-
3421	Ala	Val	Beckermusculardystrophy(BMD)	-
18	Lys	Asn	Cardiomyopathy,dilated,3B(CMD3B)	-
171	Ala	Pro	Beckermusculardystrophy(BMD)	-
279	Thr	Ala	Cardiomyopathy,dilated,3B(CMD3B)	-
645	Asp	Gly	Duchennemusculardystrophy(DMD)	-
3228	Phe	Leu	Cardiomyopathy,dilated,3B(CMD3B)	-
3313	Cys	Phe	Duchennemusculardystrophy(DMD)	-
3335	Asp	His	Duchennemusculardystrophy(DMD)	-
3340	Cys	Tyr	Duchennemusculardystrophy(DMD)	-

No annotated instance was found. To search for linear motifs, use the ELM prediction server.

Molecular function

Show entries

Search:

Term	Name	%	Distance from the top of the tree	Annotated in DMD_HUMAN
GO:0043169	cation binding	39.4366	4	yes
GO:0046872	metal ion binding	39.4366	5	yes
GO:0003779	actin binding	25.3521	4	yes
GO:0003723	RNA binding	21.1268	4	no
GO:0046914	transition metal ion binding	18.3099	6	yes
GO:0008270	zinc ion binding	14.0845	7	yes
GO:0017166	vinculin binding	7.0423	4	yes
GO:0050998	nitric-oxide synthase binding	4.2254	4	yes
GO:0017022	myosin binding	2.8169	4	yes

Showing 1 to 9 of 9 entries

Biological process

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Search:

Term	Name	%	Distance from top the of the tree	Annotated in DMD_HUMAN
GO:0048522	positive regulation of cellular process	54.9296	4	yes
GO:0060255	regulation of macromolecule metabolic process	46.4789	4	yes
GO:0010646	regulation of cell communication	45.0704	4	no
GO:0048523	negative regulation of cellular process	45.0704	4	yes
GO:0080090	regulation of primary metabolic process	43.6620	4	yes
GO:0051128	regulation of cellular component organization	42.2535	4	yes
GO:0031323	regulation of cellular metabolic process	40.8451	4	yes
GO:0051049	regulation of transport	40.8451	4	yes
GO:0009966	regulation of signal transduction	38.0282	4	no
GO:0022607	cellular component assembly	36.6197	4	yes
GO:0009889	regulation of biosynthetic process	33.8028	4	no
GO:0010468	regulation of gene expression	33.8028	6	no
GO:0010556	regulation of macromolecule biosynthetic process	33.8028	5	no
GO:0031326	regulation of cellular biosynthetic process	33.8028	5	no
GO:0009893	positive regulation of metabolic process	30.9859	4	no
GO:0051246	regulation of protein metabolic process	30.9859	5	yes
GO:0006996	organelle organization	29.5775	4	yes
GO:0010604	positive regulation of macromolecule metabolic process	28.1690	5	no
GO:0008104	protein localization	28.1690	4	yes
GO:0030030	cell projection organization	28.1690	4	yes
GO:0051130	positive regulation of cellular component organization	26.7606	5	yes
GO:0120036	plasma membrane bounded cell projection organization	26.7606	5	yes
GO:0031325	positive regulation of cellular metabolic process	25.3521	5	no
GO:1902531	regulation of intracellular signal transduction	25.3521	5	no
GO:0048584	positive regulation of response to stimulus	23.9437	4	no

Showing 1 to 25 of 131 entries

Disease

No data found.

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Search:

Uniprot ID	Details	Highest evidence	Localizing into PSD	HPA (protein expression in neurons)
A4_HUMAN	[view entry] [view interactions]	High throughput	yes	yes
ABCA1_HUMAN	[view interactions]	High throughput	no	yes
ACTS_HUMAN	[view interactions]	Low throughput	no	no
ADA1D_HUMAN	[view interactions]	High throughput	no	no
AGRIN_HUMAN	[view entry] [view interactions]	High throughput	yes	yes
AHNK_HUMAN	[view entry] [view interactions]	High throughput	yes	yes
AK1A1_HUMAN	[view entry] [view interactions]	High throughput	yes	no
ALBU_HUMAN	[view interactions]	High throughput	no	no
ALDOA_HUMAN	[view entry] [view interactions]	High throughput	yes	no
ANLN_HUMAN	[view interactions]	High throughput	no	yes
ARF1_HUMAN	[view entry] [view interactions]	High throughput	yes	yes
ARF6_HUMAN	[view entry] [view interactions]	High throughput	yes	yes
ARGI1_HUMAN	[view interactions]	High throughput	no	no
ARRB1_HUMAN	[view entry] [view interactions]	High throughput	yes	yes
ATPO_HUMAN	[view interactions]	High throughput	no	yes
BCAR1_HUMAN	[view interactions]	High throughput	no	yes
BMI1_HUMAN	[view interactions]	High throughput	no	yes
CATA_HUMAN	[view entry] [view interactions]	High throughput	yes	no
CATD_HUMAN	[view interactions]	High throughput	no	yes
CAV1_HUMAN	[view interactions]	High throughput	no	no
CAV3_HUMAN	[view interactions]	Low throughput	no	no
CAVN1_HUMAN	[view interactions]	High throughput	no	no
CD81_HUMAN	[view interactions]	High throughput	no	no
CFTR_HUMAN	[view interactions]	High throughput	no	no
CHIO_HUMAN	[view interactions]	High throughput	no	yes

Showing 1 to 25 of 185 entries

DMD_HUMAN

Evidence for PS localization

Functions

Protein features

Binary interactions with known binding regions

Network

Isoforms

Disease-causing germline mutations

Linear motifs

Fingerprint

Molecular function

Biological process

Disease

All partners