C12orf54

C12orf54
Identifiers
Aliases	C12orf54 , HSD-29, HSD-30, chromosome 12 open reading frame 54, Chromosome 12 Open Reading Frame 54
External IDs	HomoloGene: 82303; GeneCards: C12orf54; OMA:C12orf54 - orthologs
Gene location (Human) Chr. Chromosome 12 (human) [1] Band 12q13.11 Start 48,482,498 bp [1] End 48,496,524 bp [1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sperm left testis right testis pancreatic ductal cell testicle endothelial cell palpebral conjunctiva vagina gingival epithelium left ovary n/a More reference expression data BioGPS n/a
Orthologs Species Human Mouse Entrez 121273 n/a Ensembl ENSG00000177627 n/a UniProt Q6X4T0 n/a RefSeq (mRNA) NM_152319 n/a RefSeq (protein) NP_689532 NP_689532.1 n/a Location (UCSC) Chr 12: 48.48 – 48.5 Mb n/a PubMed search [2] n/a
Wikidata
View/Edit Human

C12orf54 (chromosome 12 open reading frame 54) is a protein in humans that is encoded by the C12orf54 gene.

Gene

C12orf54, chromosome 12 open reading frame 54, also known as HSD-29 (hydroxysteroid 29 dehydrogenase) and HSD-30 (hydroxysteroid 30 dehydrogenase) is a protein coding gene. The accession number for this gene is NM_152319.4.

Locus

Human C12orf54 Gene Locus provided by NCBI Gene

Homo sapiens C12orf54 can be found on chromosome 12 (12q13.11) and consists of 15 exons. ^[3]

Expression

C12orf54 is expressed in most major tissues. Human C12orf54 is expressed at slightly elevated levels within the testes compared to other tissues although this gene is primarily expressed ubiquitously among various tissues. ^[4]

Protein

The C12orf54 protein consists of 127 amino acids. ^[5] C12orf54 has a predicted molecular weight of 14.5 kdal ^[6] and a theoretical isoelectric point of 8.66. ^[7]

Structure

Alphafold predicted tertiary structure of Human C12orf54 protein

The predicted tertiary structure of C12orf54, determined that the most highly conserved amino acids are scattered throughout the protein mainly being towards the end.

Localization

C12orf54 is predicted to be primarily expressed within the nucleus. There is also predicted localization within the cytoplasm which justifies this protein having a nuclear export signal which means that the Human C12orf54 protein goes between both the nucleus and the cytoplasm. ^[8]

Post-translational modifications

C12orf54 has several predicted post-translational modifications including phosphorylation ^[9] and YinOYang sites. ^[10]

Conceptual Translation of C12orf54

Homologs

Multiple Sequence Alignment of C12orf54 Mammal Ortholog Protein Sequences

Orthologs

There are known orthologs of C12orf54 found in mammals but not amphibians, reptiles, invertebrates, birds and fish. ^[11]

Mammals Genus and species Common name Taxon DoD(MYA) Accession # Length (AA) Sequence identity (%) Sequence similarity (%) Homo sapiens Human Primate 0 NP_689532.1 127 100 100 Gorilla gorilla gorilla Gorilla Primate 8.6 XP_018893572.1 116 88 90 Pongo abelil Sumatran Orangutan Primate 15.2 XP_002823203.1 126 95 97 Colobus angolensis palliatus Colobus monkey Primate 28.9 XP_011791632.1 126 89 94 Papio anubis olive baboon Primate 28.9 XP_009178904.1 113 88 94 Cercocebus atys Sooty mangabey Primate 28.9 XP_011903881.1 113 88 93 Macaca nemestrina Southern pig-tailed macaque Primate 28.9 XP_011758585.1 137 82 86 Chlorocebus sabaeus Green monkey Primate 28.9 XP_008001251.2 127 86 91 Trachypithecus francoisi Leaf monkey Primate 28.9 XP_033079378.1 141 86 93 Cebus imitator Panamanian white-faced capuchin Primate 43 XP_017401188.1 126 85 90 Aotus nanymaae Nancy Ma's night monkey Primate 43 XP_012296662.1 113 86 92 Saimiri boliviensis boliviensis Squirrel monkey Primate 43 XP_003927823.1 127 85 92 Callithrix jacchus Common marmoset Primate 43 XP_017832079.1 126 85 92 Sapajus apella Tufted capuchin Primate 43 XP_032142168.1 126 84 90 Carlito syrichta Philippine tarsier Primate 69 XP_008062124.1 127 79 85 Propithecus coquereli Coquerel's sifaka Primate 74 XP_012493895.1 127 80 85 Lemur catta Ring-tailed lemur Primate 74 XP_045411017.1 113 79 87 Microcebus murinus Grey mouse lemur Primate 74 XP_012612622.1 125 75 81 Galeopterus variegatus Sunda flying lemur Primate 79 XP_008582693.1 127 73 80 Oryctolagus cuniculus European rabbit Rodentia 87 XP_008254622.1 125 74 81

C12orf54 unrooted phylogenetic tree of mammal orthologs

Evolution

Graph of correct percent divergence vs Median Date of Divergence. Blue represents C12orf54 Red represents cytochrome c Yellow represents fibrinogen alpha

C12orf54 is estimated to first have appeared 87 million years ago in rodents. The rate of molecular evolution for C12orf54 was relatively slow since it was slightly lower than Cytochrome C and less rapid than the evolution rate of Fibrinogen Alpha showing that C12orf54 does not evolve rapidly.

References

1. GRCh38: Ensembl release 89: ENSG00000177627 – Ensembl, May 2017
2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
3. "C12orf54 chromosome 12 open reading frame 54 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-10-27.
4. "C12orf54 chromosome 12 open reading frame 54 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-12-14.
5. "uncharacterized protein C12orf54 [Homo sapiens] - Protein - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-10-27.
6. "EBI Tools: Job not available". www.ebi.ac.uk. Retrieved 2022-12-16.
7. "ExPasy Isoelectric Point Prediction Tool".^{[ permanent dead link ]}
8. "Services". www.healthtech.dtu.dk. Retrieved 2022-12-24.
9. "C12orf54 (human)". www.phosphosite.org. Retrieved 2022-12-15.
10. "Services". www.healthtech.dtu.dk. Retrieved 2022-12-15.
11. "BLAST: Basic Local Alignment Search Tool". blast.ncbi.nlm.nih.gov. Retrieved 2022-12-12.