CCDC184

CCDC184
Identifiers
Aliases	CCDC184 , C12orf68, coiled-coil domain containing 184
External IDs	MGI: 2146066; HomoloGene: 18612; GeneCards: CCDC184; OMA:CCDC184 - orthologs
Gene location (Human) Chr. Chromosome 12 (human) [1] Band 12q13.11 Start 48,183,644 bp [1] End 48,185,926 bp [1]
Gene location (Mouse) Chr. Chromosome 15 (mouse) [2] Band 15|15 F1 Start 98,065,039 bp [2] End 98,068,015 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in prefrontal cortex dorsolateral prefrontal cortex Brodmann area 9 right frontal lobe cingulate gyrus anterior cingulate cortex right hemisphere of cerebellum Hypothalamus primary visual cortex superior frontal gyrus Top expressed in facial motor nucleus pontine nuclei dorsal tegmental nucleus medial vestibular nucleus central gray substance of midbrain superior colliculus deep cerebellar nuclei dorsomedial hypothalamic nucleus olfactory epithelium spinal cord More reference expression data BioGPS n/a
Orthologs Species Human Mouse Entrez 387856 239650 Ensembl ENSG00000177875 ENSMUSG00000029875 UniProt Q52MB2 Q8BMK5 RefSeq (mRNA) NM_001013635 NM_177716 RefSeq (protein) NP_001013657 NP_808384 Location (UCSC) Chr 12: 48.18 – 48.19 Mb Chr 15: 98.07 – 98.07 Mb PubMed search [3] [4]
Wikidata
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Coiled-coil domain-containing 184 (CCDC184) is a protein which, in humans, is encoded by the CCDC184 gene

Gene

Alias for the CCDC184 gene is C12orf68, chromosome 12 open reading frame 68. ^[5] CCDC184 mRNA sequence, which is 2283 nucleotides in length, and is composed of 1 exon.

Expression

Human CCDC184 is primarily expressed in the components of the brain, such as hypothalamus, pons, pituitary gland. ^[6] The gene's expression is enhanced and/or over-expressed in the brain tissue expression. ^[7] Tissue expression cluster predicted Pituitary gland - Hormone signaling ^[8]

Protein

Overview

CCDC184 Protein is 194 amino acid and contains a domain of unknown function, DUF4677, which spans for 193 amino acid long . CCDC184 protein has a theoretical molecular weight of 20,484 ^[9] dalton and an isoelectric point of 4.04. ^[10] This indicates the acidic nature of the sequence. The molecular function of the protein is protein binding ^[11]

Post translational Modification

CCDC184 contains various predicted post-translational modification domains, including phosphorylation, SUMOylation, Glutaredoxin, Myristoylation, Glutamic acid-rich region, and acetylation. The phosphosphorylation sites include S23, T24, and Y36. ^[12]

Predicted Post Modification sites/domains of CCDC184 human protein.

Modification	Amino acid Region
Phosphorylation	76, 113, 155, 120, 122, 162
Myristoylation	103-108, 109-114, 124-129, 166-172
Glutaredoxin domain	1-62
Glutamic acid-rich region	136-146
SUMOylation	102-106, 183-187

CCDC184 protein Domain, motif and post translational modification diagram

P = Phosphorylation site, Sumo: Sumo interacting regions, DUF4677: domain of unknown function

Structure

The human CCDC184 protein is predicted to be localized in the cytoplasm ^[13]

AlphaFold figure indicates 3D model of CCDC184. The colors indicate the charged regions of the structure.

AlphaFold figure indicates 3D model of CCDC184. The colors indicate the charged regions of the structure

Conceptual translation

The annotated elements shown in the conceptual translation for human CCDC184 protein is post-translational modifications, alpha helices, SUMOylation, Lysine acetylation, domain of unknown function.

Homology

CCDC184 is found only in mammals. 183 organisms that have orthologs with the human gene CCDC184.

Table of Orthologs

Orthologs for CCDC184 are only found in mammals. The most distantly related species to human CCDC184 with a date of divergence of 160 MYA is the opossum. The Tasmanian devil also has a date of divergence of 160 MYA. The table indicates a various selection portion of the mammals' list.

Table of Orthologs

Taxonomic Order	Genus and Species	Common Name	Accession Number	Sequence Length(aa)	Date of Divergence(MYA)	% Identity to the human protein	% Similarity to the human protein
Primate	Homo sapiens	Human	NP_001013657.3	194	0	100	100
Primate	Carlito syrichta	Philippine tarsier	XP_008067440.1	194	69	93.3	97.4
Scandentina	Tupaia chinensis	Chinese tree shrew	XP_006163517.1	85	85	89.7	93.8
Rodentia	Mus musculus	Mouse	NP_808384.2	191	87	90.2	82.8
Carnivora	Lontra canadensis	River otter	XP_032732811.1	193	94	93.8	96.9
Carnivora	Ursus americanus	American black bear	XP_045656783.1	195	94	94.9	96.9
Cetacea	Neophocaena asiaeorientalis asiaeorientalis	Finless porpoise	XP_024592814.1	195	94	92.8	95.9
Cetacea	Delphinapterus leucas	Beluga whale	XP_022428046.1	195	94	93.3	96.4
Artiodactyla	Camelus ferus	Bactrian camel	XP_006196007.2	195	94	94.9	97.4
Artiodactyla	Sus scrofa	Wild boar	XP_020948280.1	195	94	92.8	95.4
Chiroptera	Desmodus rotundus	Vampire bat	XP_024431436.1	195	94	90.3	93.8
Pilosa	Choloepus didactylus	Two-toed sloth	XP_037701005.1	196	99	88.8	92.9
Proboscidea	Elephas maximus indicus	Indian elephant	XP_049738921.1	197	99	89.3	94.9
Cingulata	Dasypus novemcinctus	Nine-banded armadillo	XP_004470453.1	192	99	90.2	93.3
Marsupial	Gracilinanus agilis	Agile gracile opossum	XP_044534020.1	186	160	72.8	80
Marsupial	Sarcophilus harrisii	Tasmanian devil	XP_031793886.1	187	160	69.2	77.6

The figure indicates a chart showing the divergence of CCDC184, Cytochrome C and Fibrogen Alpha.

Interaction and clinical significance

Predicted interactions for the CCDC184 gene were seen and the interactions revolved around enabling protein binding activity. Expressions of CCDC184 were connected to studies done on tissue samples for breast cancer somatic mutations ^[14]

References

1. GRCh38: Ensembl release 89: ENSG00000177875 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000029875 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "NCBI Gene". NCBI Gene.
6. "Protein Atlas". Human Protein Atlas.
7. "Gene Card results for CCDC184". Gene Card.
8. "Human Protein Atlas". Human Protein Atlas.
9. "PhosphositePlus". PhosphositePlus.
10. "Expasy pI tool". ExPasy.
11. "PhosphositePlus". PhosphositePlus.
12. "PhosphositePlus". PhosphositePlus.
13. "PSORT II".
14. Mertins P, Mani DR, Ruggles KV, Gillette MA, Clauser KR, Wang P, et al. (June 2016). "Proteogenomics connects somatic mutations to signalling in breast cancer". Nature. 534 (7605). NLM: 55–62. Bibcode:2016Natur.534...55.. doi:10.1038/nature18003. PMC   5102256 . PMID   27251275.