HMCES — 5-hydroxymethylcytosine binding, ES cell specific
HMCES belongs to a gene co-expression module in 3 of 28 SCUBA cell types. Each module groups genes that rise and fall together in that cell type; the genes it shares a module with are its closest co-expression partners there.
HMCES's module in each cell type
| Cell type | Module | Shares the module with | |
|---|---|---|---|
| CD19⁺ B cells | Somatic Hypermutation B cell maturation | DEF8, EAF2, KLHL6, LBR, OGG1, PHF6, PRPSAP2, RFC1 +3 more | View in SCUBA |
| CD4⁺ T cells | CD200 immunoregulation Immune regulation | B3GNT2, CAV1, CD200, CD79A, CH25H, CHGB, DUOX1, ELF2 +23 more | View in SCUBA |
| Gamma-delta T cells | Activation Stress Response Stress | ARHGAP9, ARHGEF12, ATF3, ATP6V0A2, GALNT6, GPR18, HIC1, HMGCR +12 more |
About the gene
| Synonyms | C3orf37, DC12, SRAPD1 |
|---|---|
| Chromosome | 3: 129278828-129306186 |
| Predicted location | Intracellular |
| Essential gene | No |
| Protein class | Predicted intracellular proteins |
| Molecular function | DNA-binding, Hydrolase, Lyase, Protease |
| Biological process | DNA damage |
Function
Sensor of abasic sites in single-stranded DNA (ssDNA) required to preserve genome integrity by promoting error-free repair of abasic sites. Acts as an enzyme that recognizes and binds abasic sites in ssDNA at replication forks and chemically modifies the lesion by forming a covalent cross-link with DNA: forms a stable thiazolidine linkage between a ring-opened abasic site and the alpha-amino and sulfhydryl substituents of its N-terminal catalytic cysteine residue. Promotes error- free repair by protecting abasic sites from translesion synthesis (TLS) polymerases and endonucleases that are error-prone and would generate mutations and double-strand breaks. The HMCES DNA- protein cross-link is then either reversed or degraded. HMCES is able to catalyze the reversal of its thiazolidine cross-link and cycle between a cross-link and a non-cross-linked state depending on DNA context: mediates self-reversal of the thiazolidine cross-link in double stranded DNA, allowing APEX1 to initiate downstream repair of abasic sites. The HMCES DNA-protein cross-link can also be degraded by the SPRTN metalloprotease following unfolding by the BRIP1/FANCJ helicase. Has preference for ssDNA, but can also accommodate double-stranded DNA with 3' or 5' overhang (dsDNA), and dsDNA-ssDNA 3' junction. Plays a protective role during somatic hypermutation of immunoglobulin genes in B-cells: acts via its ability to form covalent cross-links with abasic sites, thereby limiting the accumulation of deletions in somatic hypermutation target regions. Also involved in class switch recombination (CSR) in B-cells independently of the formation of a DNA-protein cross-link: acts by binding and protecting ssDNA overhangs to promote DNA double- strand break repair through the microhomology-mediated alternative-end- joining (Alt-EJ) pathway (By similarity). Acts as a protease: mediates autocatalytic processing of its N-terminal methionine in order to expose the catalytic cysteine (By similarity).
Human Protein Atlas · Open Targets · UniProt
Gene annotation from the Human Protein Atlas and UniProt; see sources & licences.