• Gene id: 56941

Gene Summary

• Gene Symbol: HMCES   Gene   UCSC   Ensembl
• Aliases: C3orf37, DC12, SRAPD1
• Gene name: 5-hydroxymethylcytosine binding, ES cell specific
• Alternate names: abasic site processing protein HMCES, 5-hydroxymethylcytosine (hmC) binding, ES cell-specific, ES cell-specific 5hmC-binding protein, SOS response associated peptidase domain containing 1, SRAP domain-containing protein 1, UPF0361 protein C3orf37, embryonic ste,
• Gene location: 3q21.3 (129278831: 129306185)     Exons: 8     NC_000003.12
• OMIM: 618288

Protein Summary

• Protein general information: Q96FZ2  
  • Name: Abasic site processing protein HMCES (Embryonic stem cell specific 5 hydroxymethylcytosine binding protein) (ES cell specific 5hmC binding protein) (Peptidase HMCES) (EC 3.4. . ) (SRAP domain containing protein 1)
  • Length: 354  
  • Mass: 40575
• Sequence:

  MCGRTSCHLPRDVLTRACAYQDRRGQQRLPEWRDPDKYCPSYNKSPQSNSPVLLSRLHFEKDADSSERIIAPMRW
  GLVPSWFKESDPSKLQFNTTNCRSDTVMEKRSFKVPLGKGRRCVVLADGFYEWQRCQGTNQRQPYFIYFPQIKTE
  KSGSIGAADSPENWEKVWDNWRLLTMAGIFDCWEPPEGGDVLYSYTIITVDSCKGLSDIHHRMPAILDGEEAVSK
  WLDFGEVSTQEALKLIHPTENITFHAVSSVVNNSRNNTPECLAPVDLVVKKELRASGSSQRMLQWLATKSPKKED
  SKTPQKEESDVPQWSSQFLQKSPLPTKRGTAGLLEQWLKREKEEEPVAKRPYSQ

• Structural information:
  • Interpro: IPR003738  IPR036590  
  • PDB: 5KO9 6OE7 6OEA 6OEB 6OOV
  • PDBsum: 5KO9 6OE7 6OEA 6OEB 6OOV
  • STRING: ENSP00000372955
• Other Databases: GeneCards:  HMCES  Malacards:  HMCES

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0018142	protein-DNA covalent cross-linking	IDA	biological process
GO:0018142	protein-DNA covalent cross-linking	IDA	biological process
GO:0003906	DNA-(apurinic or apyrimidinic site) endonuclease activity	IDA	NOT|molecular function
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0003697	single-stranded DNA binding	IDA	molecular function
GO:0005657	replication fork	IDA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0003697	single-stranded DNA binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045830	positive regulation of isotype switching	ISS	biological process
GO:0018142	protein-DNA covalent cross-linking	IEA	biological process
GO:0003697	single-stranded DNA binding	IEA	molecular function
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005694	chromosome	IEA	cellular component
GO:0097681	double-strand break repair via alternative nonhomologous end joining	IEA	biological process
GO:0003697	single-stranded DNA binding	IEA	molecular function
GO:0045830	positive regulation of isotype switching	IEA	biological process
GO:0005694	chromosome	IEA	cellular component

Diseases

Associated diseases	References
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray