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Table 1 Details of the human genes harboring a twintron

From: Surprisingly high number of Twintrons in vertebrates

Gene

Function

Length of U12 variant (in aa)

Length of U2 variant (in aa)*

ACTR10

This gene encodes actin involved in microtubule-based movement.

417

219 (U2-a), 219 (U2-b)

C19orf54

This gene encodes uncharacterized phosphoprotein.

351

139

C1orf112

Function unknown.

718

853 (U2-a), 606 (U2-b)

C3orf17

Function unknown.

567

392 (U2-a),

400 (U2-b)

CTNNBL1

Although the function of this protein has not been determined, the C-terminal portion of the protein has been shown to possess apoptosis-inducing activity.

563

376

CUL4A

This gene encodes ubiquitin ligase component of a multimeric complex involved in the degradation of DNA damage-response proteins.

789

149

ESRP1

This gene encodes RNA-binding protein that is an epithelial cell-type-specific splicing regulator.

742

206

HNRPLL

This gene encodes RNA-binding protein regulating activation-induced alternative splicing in T cells.

537

536

NCBP2

Component of the cap-binding complex (CBC), which binds to the monomethylated 5 cap of nascent pre-mRNA in the nucleoplasm. The encoded protein has an RNP domain commonly found in RNA binding proteins, and contains the cap-binding activity. The CBC promotes pre-mRNA splicing, 3-end processing, RNA nuclear export, and nonsense-mediated mRNA decay.

156

103

PCID2

This gene is expressed in immature and early-stage B lymphocytes and regulates expression of the mitotic checkpoint protein MAD2.

399

453 (U2-a), 292 (U2-b)

PRMT1

This gene encodes arginine methyltransferase that is responsible for the majority of cellular arginine methylation activity. Increased expression of this gene may play a role in many types of cancer.

NMD

371 (U2-a), 353 (U2-b), 346 (U2-c), 325 (U2-d), 213 (U2-e), 192 (U2-f)

SLC9A7

This gene encodes a sodium and potassium/ proton antiporter that is a member of the solute carrier family 9 protein family. It is primarily localized to the trans-Golgi network and is involved in maintaining pH homeostasis in organelles along the secretory and endocytic pathways.

725

727

SPAG16

This gene encodes protein kinase binding protein associated with the axoneme of sperm tail.

631

577

SSR3

This gene encodes the gamma subunit of glycosylated endoplasmic reticulum (ER) membrane receptor associated with protein translocation across the ER membrane.

198

174

TAPT1

This gene encodes a highly conserved, putative transmembrane protein. A mutation in the mouse ortholog of this gene results in homeotic, posterior-to-anterior transformations of the axial skeleton, which are similar to the phenotype of mouse homeobox C8 gene mutants.

567

338

TTLL9

This gene encodes a tubulin tyrosine ligase-like protein that forms polyglutamate side chains on tubulin.

347

439

UBE2H

This gene encodes a member of the ubiquitin-conjugating enzyme family. The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation.

183

149

ZNF207

This gene encodes uncharacterized zing finger protein expressed in cultured breast cancer cells.

494

95 (U2-a), 74 (U2-b)

  1. * In some cases, multiple U2-type introns are spliced from a single intronic position.