HMCES (5-hydroxymethylcytosine binding, ES cell specific)

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Gene Gene ontology Other IDs Protein Related genes Diseases linked via similar genes

Gene

• Entrez ID: 56941
• Gene name: 5-hydroxymethylcytosine binding, ES cell specific
• Gene symbol: HMCES
• Synonyms (NCBI Gene): C3orf37, DC12, SRAPD1
• Chromosome: 3
• Chromosome location: 3q21.3

Gene ontology (GO) Show/Hide all (25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003677	Function	DNA binding	IEA
GO:0003697	Function	Single-stranded DNA binding	IDA	30554877, 31235913
GO:0003697	Function	Single-stranded DNA binding	IEA
GO:0003906	Function	DNA-(apurinic or apyrimidinic site) endonuclease activity	IDA	30554877
GO:0005515	Function	Protein binding	IPI	30554877
GO:0005657	Component	Replication fork	IDA	30554877, 32492421
GO:0005694	Component	Chromosome	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006508	Process	Proteolysis	IEA
GO:0006974	Process	DNA damage response	IDA	30554877, 31235913, 32492421, 36608669, 37519246, 37950866
GO:0006974	Process	DNA damage response	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0016446	Process	Somatic hypermutation of immunoglobulin genes	IDA	35450882
GO:0016446	Process	Somatic hypermutation of immunoglobulin genes	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016829	Function	Lyase activity	IEA
GO:0036297	Process	Interstrand cross-link repair	IDA	33321094, 36608669, 37519246, 37950866
GO:0045830	Process	Positive regulation of isotype switching	IEA
GO:0045830	Process	Positive regulation of isotype switching	ISS
GO:0097681	Process	Double-strand break repair via alternative nonhomologous end joining	IEA
GO:0106300	Process	Protein-DNA covalent cross-linking repair	IDA	36608669
GO:0106300	Process	Protein-DNA covalent cross-linking repair	IDA	37519246, 37950866
GO:0106300	Process	Protein-DNA covalent cross-linking repair	IEA
GO:0140431	Function	DNA-(abasic site) binding	IDA	30554877, 31235913, 32492421, 35450882, 36608669
GO:0160129	Function	Protein-DNA covalent cross-linking activity	IDA	30554877, 31235913, 36608669

Other IDs

• MIM: 618288
• HGNC: 24446
• e!Ensembl: ENSG00000183624

Protein

• UniProt ID: Q96FZ2
• Protein name: Abasic site processing protein HMCES (EC 4.-.-.-) (Embryonic stem cell-specific 5-hydroxymethylcytosine-binding protein) (ES cell-specific 5hmC-binding protein) (Peptidase HMCES) (EC 3.4.-.-) (SRAP domain-containing protein 1)
• Protein function: Sensor of abasic sites in single-stranded DNA (ssDNA) required to preserve genome integrity by promoting error-free repair of abasic sites (PubMed:30554877, PubMed:31235913, PubMed:31235915, PubMed:32307824, PubMed:32492421). Acts as an enzyme t
• PDB: 5KO9 , 6OE7 , 6OEA , 6OEB , 6OOV
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02586	SRAP	1 → 259	SOS response associated peptidase (SRAP)	Family

• Sequence:

  MCGRTSCHLPRDVLTRACAYQDRRGQQRLPEWRDPDKYCPSYNKSPQSNSPVLLSRLHFE
  KDADSSERIIAPMRWGLVPSWFKESDPSKLQFNTTNCRSDTVMEKRSFKVPLGKGRRCVV
  LADGFYEWQRCQGTNQRQPYFIYFPQIKTEKSGSIGAADSPENWEKVWDNWRLLTMAGIF
  DCWEPPEGGDVLYSYTIITVDSCKGLSDIHHRMPAILDGEEAVSKWLDFGEVSTQEALKL
  IHPTENITFHAVSSVVNNSRNNTPECLAPVDLVVKKELRASGSSQRMLQWLATKSPKKED
  SKTPQKEESDVPQWSSQFLQKSPLPTKRGTAGLLEQWLKREKEEEPVAKRPYSQ

• Sequence length: 354

Related Genes

No strongly related genes found yet for HMCES.

Diseases Linked via Similar Genes

No additional diseases found yet through genes similar to HMCES.