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This gene encodes several isoforms of a nucleocytoplasmic adaptor protein, one of which was initially identified as a MYC-interacting protein with features of a tumor suppressor. Isoforms that are expressed in the central nervous system may be involved in synaptic vesicle endocytosis and may interact with dynamin, synaptojanin, endophilin, and clathrin. Isoforms that are expressed in muscle and ubiquitously expressed isoforms localize to the cytoplasm and nucleus and activate a caspase-independent apoptotic process. Studies in mouse suggest that this gene plays an important role in cardiac muscle development. Alternate splicing of the gene results in several transcript variants encoding different isoforms. Aberrant splice variants expressed in tumor cell lines have also been described.
Protein class

Disease related genes, Human disease related genes

Predicted location


Single cell type specificity

Cell type enhanced (Proximal tubular cells, Oligodendrocytes, NK-cells, Hofbauer cells)

Immune cell specificity

Group enriched (T-reg, memory CD4 T-cell, memory CD8 T-cell, gdT-cell, naive B-cell, NK-cell, naive CD4 T-cell, naive CD8 T-cell, memory B-cell, MAIT T-cell)

Cell line specificity

Cell line enhanced (RPTEC TERT1)


Heterodimer with AMPH (By similarity). Binds SH3GLB1 (By similarity). Interacts (via SH3 domain) with DNM1. Interacts with SYNJ1 (By similarity). Interacts (via SH3 domain) with DNM2 (PubMed:17676042). Isoform IIA interacts with CLTC. Isoform IIB does not interact with CLTC. Isoform IIC1 does not interact with CLTC. Isoform IIC2 does not interact with CLTC (PubMed:9603201). Interacts with AP2A2. Interacts with AP2B1 (By similarity). Interacts with MYC (via N-terminal transactivation domain); the interaction requires the integrity of the conserved MYC box regions 1 and 2 (By similarity). Interacts with BIN2 (PubMed:10903846). Interacts with SNX4 (PubMed:12668730). Interacts (via BAR domain) with BACE1 (PubMed:27179792). Binds (via BAR domain) F-actin (PubMed:28893863). (Microbial infection) Interacts (SH3 domain) with HCV NS5A.

Molecular function

Developmental protein

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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