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)
End	48,496,524 bp
RNA expression pattern
	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
	n/a
Orthologs
	121273
	n/a
	ENSG00000177627
	n/a
	Q6X4T0
	n/a
	NM_152319
	n/a
	NP_689532; NP_689532.1
	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

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]

Homologs

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

Evolution

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

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

[refGRCh38Ensembl-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.

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