Target intelligence / Profile preview

Transmembrane and coiled-coil domain family 1 (TMCC1)

Target
TMCC1
Molecular classification
Other (ER integral membrane protein)
01

Overview

Transmembrane and coiled-coil domain family 1 (TMCC1) is a conserved integral membrane protein of the endoplasmic reticulum (ER), expressed in many human cell types[1][2][3]. TMCC1 contains two adjacent C-terminal transmembrane domains that target it to the rough ER, with both its N- and C-terminal regions facing the cytoplasm[1][2]. The protein promotes ER-associated endosome fission and is enriched at ER-endosome membrane contact sites, participating in membrane remodeling and protein interactions necessary for functions such as endosome fission and ER organization[3]. TMCC1 can oligomerize with itself or other TMCC proteins and interacts with ribosomal proteins, suggesting roles in ribosome recruitment or ER structural maintenance[2]. Genetic associations link TMCC1 to several developmental and neurological syndromes, but direct therapeutic targeting, established drugs, or clear biomarker roles are not described in the current literature[3][5]. Key points: - TMCC1 is an ER membrane protein involved in organelle structure and membrane dynamics[1][2][3]. - It is not currently a known therapeutic target (e.g., receptor, transporter, enzyme), and no interacting drugs or biomarker functions are reported[3][5]. - It participates in protein binding, ER organization, and endosome membrane fission[2][3]. - Mutations or altered expression of TMCC1 have been genetically linked to specific syndromes but not clearly implicated in major disease pathogenesis or therapy[3][5].

Other names
KIAA0779TMCC1transmembrane and coiled-coil domains protein 1
02

Biological functions

Endoplasmic reticulum organizationEndosome fissionMembrane remodelingProtein-protein interaction
03

Disease associations

Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1Dystonia 16Hereditary congenital facial palsy (genetic association only)

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