TRIM36

Function

E3 ubiquitin-protein ligase which mediates ubiquitination and subsequent proteasomal degradation of target proteins. Involved in chromosome segregation and cell cycle regulation (PubMed:28087737). May play a role in the acrosome reaction and fertilization.

Involvement in disease

Anencephaly 1

ANPH1

An extreme form of neural tube defect resulting in the absence of brain tissues, and death in utero or perinatally. Infants are born with intact spinal cords, cerebellums, and brainstems, but lack formation of neural structures above this level. The skull is only partially formed. ANPH1 inheritance is autosomal recessive.

None

The disease is caused by variants affecting the gene represented in this entry.

Sequence Similarities

Belongs to the TRIM/RBCC family.

Tissue Specificity

Highly expressed in testis, prostate and brain (PubMed:15145053). Weakly expressed in kidney, lung and heart (PubMed:15145053). Expressed in fetal tissues (PubMed:28087737).

Cellular localization

• Cytoplasm
• Cytoplasmic vesicle
• Secretory vesicle
• Acrosome
• Cytoplasm
• Cytoskeleton
• Found in the acrosomal region of elongated spermatids and mature sperm.

Alternative names

RBCC728, RNF98, TRIM36, E3 ubiquitin-protein ligase TRIM36, RING finger protein 98, RING-type E3 ubiquitin transferase TRIM36, Tripartite motif-containing protein 36, Zinc-binding protein Rbcc728

Database links

swissprot:Q9NQ86 entrezGene:55521 genbank:NM_018700 omim:609317