Locus

CCDC180 is located on chromosome 9 at the locus 9q22.33.^[2]

Common aliases

CCDC180 is also known by the aliases KIAA1529, BDAG1 (Behçet's Disease Associated Gene 1), and C9orf174.^[2]

Gene features

The CCDC180 gene is 71,221 bases long. It contains 37 exons and is oriented on the forward strand of the chromosome.^[3]

General features

CCDC180 contains 1,701 amino acids^[4] and has a molecular weight of 197.3 kDa. The isoelectric point (pI) is 5.74. The low pI is attributed to a relatively high concentration of glutamic acid when compared to other human proteins at 12.9%. CCDC180 also contains a relatively low concentration of glycine when compared to the average human protein at 3.5%.^[5]

Domains

CCDC180 contains two domains of unknown function (DUFs): DUF4455 and DUF4456. There are also two coiled-coil regions which overlap with the DUFs. There is a region of low complexity that is very rich in glutamic acid.

Secondary and tertiary structure

The secondary structure of CCDC180 is predicted to be almost completely composed of alpha helices, with only a few predicted beta sheets.^[7] The tertiary structure is not completely characterized as yet, but a model predicted by the I-TASSER server at the University of Michigan is pictured.

Post-translational modifications

CCDC180 is predicted to undergo a variety of post-translational modifications:

• Phosphorylation on serine, threonine, and tyrosine residues^[8]
• Tyrosine sulfation^[9]
• Sumoylation^[10]
• O-linked β-N-acetylglucosamine modification of a serine residue^[11]

Subcellular localization

CCDC180 is predicted to localize to the nucleus, and it contains four nuclear localization sequences.^[12]

Transcriptional regulation

Transcription of CCDC180 is predicted to be regulated by a 664 base pair promoter region, with the ID GXP_1829211. This prediction is supported by the transcripts GXT_23217882, GXT_24495001, GXT_24495002, and GXT_24495003. Transcription factors predicted to bind to this promoter region are described below.^[15]

• Ccaat-enhancer binding protein
• KRAB domain zinc finger protein 57
• Krüppel-like C2H2 zinc finger factors
• Octamer binding protein
• SRY box 9
• GLI zinc finger family
• RXR heterodimers
• SOX factors
• E-box binding factors
• Nerve growth factor-induced protein C
• Myc-associated zinc finger
• GC-binding factor 2
• X-box binding protein 1
• Histone nuclear factor P

Evolutionary history

CCDC180 is a relatively quickly-evolving gene compared to other well-known genes. There are no known family members, splice variants or isoforms, or evidence of gene duplications in the history of the gene.