Protein Details: Gap junction gamma-3 protein

Protein ID

ICDB_Pro_1288

Protein Name

Gap junction gamma-3 protein

Gene Name

GJC3; GJE1

Organism

Homo sapiens (Human)

Length

279 amino acids

AlphaFoldDB

AF-Q8NFK1-F1-model_v4.pdb

Function

Sequence

MCGRFLRRLLAEESRRSTPVGRLLLPVLLGFRLVLLAASGPGVYGDEQSEFVCHTQQPGCKAACFDAFHPLSPLRFWVFQVILVAVPSALYMGFTLYHVIWHWELSGKGKEEETLIQGREGNTDVPGAGSLRLLWAYVAQLGARLVLEGAALGLQYHLYGFQMPSSFACRREPCLGSITCNLSRPSEKTIFLKTMFGVSGFCLLFTFLELVLLGLGRWWRTWKHKSSSSKYFLTSESTRRHKKATDSLPVVETKEQFQEAVPGRSLAQEKQRPVGPRDA

PDB Structures

6L3T 6L3U 6L3V

Ligand Binding

1. DICL_CP

2. DICL_Pep

Binding Site

Disease

Bardet-Biedl Syndrome and Intellectual Developmental Disorder;Autosomal Recessive

Location

CNS specific. Expression is restricted to brain; spinal cord; and sciatic nerve. According to PubMed:12881038; expression is abundant in skeletal muscle; liver; and heart; and to a minor degree in pancreas and kidney. According to PubMed:12881038; expression is abundant in skeletal muscle; liver; and heart; and to a minor degree in pancreas and kidney. According to PubMed:12881038; expression is abundant in skeletal muscle; liver; and heart; and to a minor degree in pancreas and kidney.

DOI ID

10.1523/jneurosci.22-15-06458.2002; 10.1126/science.1083423; 10.1101/gr.2596504; 10.1080/15419060302063

RefSeq

NP_853516.1