C21orf62

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Identifiers
Aliases
External IDs	GeneCards: [1]
Orthologs
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a
Wikidata
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Predicted protein structure of C21orf62. The highest confidence prediction is at the red end of the structure, and the lowest confidence prediction is at the blue end of the structure.

Figure 1.

C21orf62 is a protein that, in humans, is encoded by the C21orf62 gene. C21orf62 is found on human chromosome 21, and it is thought to be expressed in tissues of the brain and reproductive organs. Additionally, C21orf62 is highly expressed in ovarian surface epithelial cells during normal regulation, but is not expressed in cancerous ovarian surface epithelial cells.

Gene

Common aliases of C21orf62 are C21orf120, PRED81, and B37. C21orf62 is located on chromosome 21 in humans, and is specifically at the q22.11 position. The C21orf62 gene is 4132 base pairs in length and contains five exons.

mRNA

The mRNA sequence of C21orf62 in humans has one known isoform. This isoform is called uncharacterized protein C21orf62 isoform X1. This isoform is 458 base pairs, or 104 amino acids, in length, and it is significantly shorter than the most observed sequence of C21orf62 in humans. In addition to having an isoform, C21orf62 also has splice variants. All splice variants encode the same gene, but the differences in splice variant sequences occur in the 5' untranslated region of the mRNA sequence.

Protein

General protein characteristics

The C21orf62 protein in humans has a sequence that is 219 amino acids in length. The primary sequence of C21orf62 in humans has a molecular weight of 24.9 kDa and an isoelectric point of 8. When it's cleavable signal peptide, which spans amino acids 1-19, is removed, it has a molecular weight of 22.8 kDa and an isoelectric point of 7.8.

Protein composition

C21orf62 in humans has higher cysteine and lower valine concentrations than expected compared to other human proteins. This trend, as showed in Table 1, is the same for other mammals. It does not, however, occur in taxa other than mammalia.

Table 1. Unusual amino acid concentrations of C21orf62 in humans and orthologs.

Genus and Species	Common Name	Organism Clade	% Cysteine	Amino Acid Concentration of Cysteine Compared to Expected	% Valine	Amino Acid Concentration of Valine Compared to Expected	Other Amino Acids with High or Low Concentration Compared to Expected
Homo sapiens	Human	Mammalia	4.6%	High	3.2%	Low	-
Mus musculus	House Mouse	Mammalia	4.3%	High	3.5%	Low	Glutamic Acid (1.7%, low)
Canis lupus familiaris	Dog	Mammalia	4.1%	High	2.7%	Low	Leucine (14.2%, high)
Physeter catodon	Sperm Whale	Mammalia	4.6%	High	4.1%	Expected	Serine (11.9%, high)
Gallus gallus	Chicken	Aves	3.1%	Expected	6.7%	Expected	Alanine (2.2%, low) Glycine (3.1%, low) Proline (1.8%, low) Phenylalanine (7.1%, high) Serine (12.4%, high) Threonine (9.8%)
Chelonia mydas	Green Sea Turtle	Reptilia	3.6%	Expected	5.8%	Expected	Alanine (1.8%, low) Serine (11.2%, high)

Protein structure

The protein structure of C21orf62 in humans consists of a combination of alpha helices and beta sheets. Figure 1 shows a predicted structure of the protein.

Post-translational modifications

C21orf62 has a myristoylation site from amino acid 26-31. It has a sumoylation site from amino acid 132-135. Additionally, it has a nuclear export signal from amino acid 98-104.

Expression

Tissue expression

C21orf62 is expressed in human tissues of the brain and reproductive organs.

Expression level

C21orf62 in humans is moderately expressed in the brain, kidneys, pancreas, prostate, testes, and ovaries.

Regulation of expression

C21orf62 is expressed during blastocyst, fetus, and adult states of human development. It is overexpressed during some tumor states, including pancreatic, gastrointestinal, germ cell, and glioma tumors.

Function

The specific function of C21orf62 in humans is not yet well understood.

Interacting proteins

C21orf62 is thought to potentially interact with nine other proteins. These interactions are shown in Table 2, and they were found through text mining.

Table 2. Proteins with Evidence of Interaction with C21orf62

Protein Full Name	Protein Name Symbol	Brief Protein Description
BCL2 Interacting Protein Like	BNIPL	May function as a bridge molecule that promotes cell death.
Thymosin Beta 4, X-linked Pseudogene 4	TMSB4XP4	Potentially influences actin polymerization.
Synovial Sarcoma X Family Member 4	SSX4	May function as a repressor of transcription, and can be useful targets in cancer vaccine-based immunotherapy.
Crystallin Beta A2	CRYBA2	A major protein in vertebrate eyes that maintains lens transparency and reflective index.
Oral Cancer Overexpressed 1	ORAOV1	A gene that is frequently overexpressed in esophageal squamous cell cancer.
Oligodendrocyte Transcription Factor 1	OLIG1	May be expressed during the time from process extension through membrane maintenance in oligodendrocytes.
PAX3 and PAX7 Binding Protein 1	GCFC1 (PAXBP1)	The encoded protein potentially binds to GC-rich DNA sequences. It is suggested that this gene is involved in the regulation of transcription.
Relaxin/Insulin Like Family Peptide Receptor 1 and 2	RXFP1 and RXFP2	Encoded protein is a receptor for the protein hormone relaxin that influences sperm motility and pregnancy.

Clinical significance

C21orf62 over or under expression is linked to some types of cancerous cells and tumors.

Homology

Paralogs

There are no known paralogs of C21orf62 in humans at this time.

Orthologs

There are currently 193 organisms that are known to be orthologs of C21orf62. The orthologs of C21orf62 are deuterostome animals in the clade Chordata. Table 3 shows a range of C21orf62 orthologs, their NCBI accession numbers, sequence lengths, and sequence identity to the C21orf62 human protein. At this time, C21orf62 is not known to have any protostome or invertebrate orthologs.

Table 3. Orthologs of Human Protein C21orf62

Genus and Species	Common Name	Organism Clade	Estimated Date of Divergence from Humans (Millions of Years Ago)	Accession Number	Amino Acid Sequence Length	Corrected Sequence Identity to Human Protein
Homo sapiens	Human	mammalia	0	NP_001155967.2	219	100%
Mus musculus	House Mouse	mammalia	90	NP_083181.1	230	68.2%
Meleagris gallopavo	Wild Turkey	aves	312	XP_010721230.1	225	56.4%
Chelonia mydas	Green Sea Turtle	reptilia	312	XP_007063646.1	224	60.8%
Xenopus tropicalis	Western Clawed Frog	tetrapoda	352	NP_001004889.1	207	48.9%
Latimeria chalumnae	West Indian Ocean Coelacanth	sarcopterygii	413	XP_005993681.2	237	45.0%
Ictalurus punctatus	Channel Catfish	actinopterygii	435	XP_017326002.1	214	29.6%
Callorhinchus milii	Australian Ghostshark	condrichthyes	473	XP_007904174.1	222	40.4%

The rate of evolution in C21orf62 is graphed alongside the evolution rate of cytochrome C and fibrinogen.

Figure 2. Evolution of C21orf62 in humans over time.

Evolution rate

C21orf62 has an evolution rate that is faster than cytochrome C and fibrinogen. Figure 2 shows the rate of evolution of the C21orf62 gene over the past 473 million years.

External links

• Human C21orf62 genome location and C21orf62 gene details page in the UCSC Genome Browser.