CCDC90B

CCDC90B
Identifiers
Aliases	CCDC90B , MDS011, MDS025, coiled-coil domain containing 90B
External IDs	MGI: 1913615; HomoloGene: 23328; GeneCards: CCDC90B; OMA:CCDC90B - orthologs
Gene location (Human) Chr. Chromosome 11 (human) [1] Band 11q14.1 Start 83,259,081 bp [1] End 83,286,390 bp [1]
Gene location (Mouse) Chr. Chromosome 7 (mouse) [2] Band 7|7 E1 Start 92,210,357 bp [2] End 92,231,502 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ganglionic eminence ventricular zone Achilles tendon sperm C1 segment left testis right testis corpus callosum right adrenal cortex gonad Top expressed in atrioventricular valve medial ganglionic eminence vestibular membrane of cochlear duct intercostal muscle zygote transitional epithelium of urinary bladder vestibular sensory epithelium epithelium of lens endocardial cushion secondary oocyte More reference expression data BioGPS n/a
Orthologs Species Human Mouse Entrez 60492 66365 Ensembl ENSG00000137500 ENSMUSG00000030613 UniProt Q9GZT6 Q8C3X2 RefSeq (mRNA) NM_001286116 NM_001286117 NM_001286118 NM_001286119 NM_001286120 NM_021825 NM_001162918 NM_025515 RefSeq (protein) NP_001273045 NP_001273046 NP_001273047 NP_001273048 NP_001273049 NP_068597 NP_001156390 NP_079791 Location (UCSC) Chr 11: 83.26 – 83.29 Mb Chr 7: 92.21 – 92.23 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Coiled coil domain containing 90B, also known as CCDC90B, is a protein encoded by the CCDC90B gene. It is a mitochondrial calcium uniporter binding protein. ^[5]

Gene

CCDC90B is located on chromosome 11 in humans. It is neighbored by: ^[6]

• PCF11, a mammalian pre-mRNA cleavage complex 2 protein
• ANKRD42, ankyrin repeat protein involved with calcium ion bonding
• BC070093
• DLG2, a member of the membrane-associated guanylate kinase (MAGUK) family

Structure

This protein is characterized by the presence of a domain of unknown function, DUF1640. This domain is a characteristic of the entire protein with the exception of the first twenty-three amino acid residues - MNSRQAWRLFLSQGRGDRWVSRP - which are a mitochondrial targeting site and cleaved.

The protein has seven predicted alpha helices, a characteristic of coiled-coil proteins.

Properties

• Molecular Weight: 26.72 kDa
• Isoelectric point: 7.5
• Transmembrane Helices: None

Post-translation modifications: ^[7]

Chloroplast transit peptides: None

Signal pepties: None

C-mannosylation sites: None

N-glycosylation sites: None

Mitochondrial targeting: Yes

Cleaved site: MNSRQAWRLFLSQGRGDRWVSRP

It is predicted to contain at least three specific phosphorylation sites: Protein Kinase C Phosphorylation sites, Casein Kinase II Phosphorylation sites, and cAMP/cGMP Dependent Phosphorylation sites.

References

1. GRCh38: Ensembl release 89: ENSG00000137500 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000030613 – 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. Adlakha J, Karamichali I, Sangwallek J, Deiss S, Bär K, Coles M, et al. (March 2019). "Characterization of MCU-Binding Proteins MCUR1 and CCDC90B - Representatives of a Protein Family Conserved in Prokaryotes and Eukaryotic Organelles". Structure. 27 (3): 464–475.e6. doi:10.1016/j.str.2018.11.004. PMID   30612859.
6. "UCSC Genome Bioinformatics BLAT". University of California - Santa Cruz. March 2006. Retrieved 2009-05-14.
7. "ExPASy". SIB Switzerland. 2009-01-05. Retrieved 2009-05-14.

External links

• Human CCDC90B genome location and CCDC90B gene details page in the UCSC Genome Browser .