Source: PM23856902
Marked as 'Membrane associated protein'
Confidence: medium (present in either hRBCD or BSc_CH or PM22954596) Search PubMed for
(RBC AND this entry)

Gene names: DLG1
Protein names and data: DLG1_HUMAN , Disks large homolog 1 , Synapse-associated protein 97; SAP-97; SAP97; hDlg Lenght: 904 a.a.
Mass: 100455 Da
fasta formatted sequence

Function: Essential multidomain scaffolding protein required for normal development (By similarity). Recruits channels, receptors and signaling molecules to discrete plasma membrane domains in polarized cells. May play a role in adherens junction assembly, signal transduction, cell proliferation, synaptogenesis and lymphocyte activation. Regulates the excitability of cardiac myocytes by modulating the functional expression of Kv4 channels. Functional regulator of Kv1.5 channel.
Cellular location: Membrane; Peripheral membrane protein (By similarity). Basolateral cell membrane (By similarity). Endoplasmic reticulum membrane (By similarity). Cell junction, synapse, postsynaptic cell membrane, postsynaptic density (By similarity). Cell junction, synapse. Cell membrane, sarcolemma. Note=Colocalizes with EPB41 at regions of intercellular contacts. Basolateral in epithelial cells. May also associate with endoplasmic reticulum membranes. Mainly found in neurons soma, moderately found at postsynaptic densities (By similarity).
Tissue specificity: Abundantly expressed in atrial myocardium (at protein level). Expressed in lung fibroblasts, cervical epithelial and B-cells (at protein level). Widely expressed, with isoforms displaying different expression profiles.

Genetic variants

Database cross-references

UniProt: Q12959
Ensembl: ENST00000314062
Ensembl: ENST00000346964
Ensembl: ENST00000357674
Ensembl: ENST00000392382
Ensembl: ENST00000419354
Ensembl: ENST00000422288
Ensembl: ENST00000443183
Ensembl: ENST00000448528
Ensembl: ENST00000450955
Ensembl: ENST00000452595
MIM: 601014
neXtProt: NX_Q12959
Antibodypedia: Q12959 (may not find the protein thus also not any antibody)
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