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Aliases for HMCES Gene

Aliases for HMCES Gene

  • 5-Hydroxymethylcytosine Binding, ES Cell Specific 2 5
  • Embryonic Stem Cell-Specific 5-Hydroxymethylcytosine-Binding Protein 2 3
  • 5-Hydroxymethylcytosine (HmC) Binding, ES Cell-Specific 2 3
  • ES Cell-Specific 5hmC-Binding Protein 3 4
  • SRAP Domain-Containing Protein 1 3 4
  • Putative Peptidase SRAPD1 3 4
  • C3orf37 3 4
  • SRAPD1 3 4
  • DC12 3 4
  • SOS Response Associated Peptidase Domain Containing 1 2
  • Chromosome 3 Open Reading Frame 37 2
  • UPF0361 Protein C3orf37 3
  • EC 3.4.-.- 4

External Ids for HMCES Gene

Previous HGNC Symbols for HMCES Gene

  • C3orf37

Previous GeneCards Identifiers for HMCES Gene

  • GC03P128998
  • GC03P129074

Summaries for HMCES Gene

GeneCards Summary for HMCES Gene

HMCES (5-Hydroxymethylcytosine Binding, ES Cell Specific) is a Protein Coding gene. GO annotations related to this gene include peptidase activity.

UniProtKB/Swiss-Prot for HMCES Gene

  • Specifically binds 5-hydroxymethylcytosine (5hmC)-containing DNA in stem cells, suggesting that it acts as a specific reader of 5hmC in stem cells (By similarity). May act as a peptidase; experimental evidences are however required to confirm this prediction (PubMed:23945014).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HMCES Gene

Genomics for HMCES Gene

Regulatory Elements for HMCES Gene

Enhancers for HMCES Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03F129275 1.1 Ensembl ENCODE 29.8 -2.2 -2166 1.3 PKNOX1 MXI1 TBL1XR1 BMI1 EBF1 RFX5 RELA POLR2A EED ETV6 HMCES H1FX H1FX-AS1 NUP210P3 CNBP RAB43 ACAD9 RPL32P3 MIR6826
GH03F129303 1.1 Ensembl ENCODE 29.4 +26.6 26588 3.2 CTCF TAL1 RAD21 CCNT2 ZFHX2 NCOR1 POLR2A NFYB SMC3 FOS HMCES ISY1 LOC100421508 GC03M129283 H1FX-AS1
GH03F129309 1.1 ENCODE 29.3 +35.1 35085 8.8 HDGF PKNOX1 WRNIP1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 HMCES ISY1 ENSG00000248659 MARK2P6 MARK3P3 DNAJB8-AS1 OR7E21P OR7E129P MARK2P17 DNAJB8
GH03F129277 1 ENCODE 29.8 +0.4 378 3.1 HDGF ATF1 PKNOX1 WRNIP1 ARID4B SIN3A ZNF48 BRCA1 YY1 ZNF121 HMCES ENSG00000244932 ISY1 RPL32P3 MBD4 RPS15AP16 CNBP RPN1 ENSG00000203644 ACAD9
GH03F129281 0.9 ENCODE 29.8 +3.9 3948 1.6 PKNOX1 TBL1XR1 SIN3A ARID4B BMI1 ZNF335 GLIS2 ETV6 CREM EGR2 HMCES EFCAB12 GC03M129283
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HMCES on UCSC Golden Path with GeneCards custom track

Promoters for HMCES Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001373562 584 2401 HDGF ATF1 PKNOX1 WRNIP1 ZFP64 ARID4B SIN3A ZNF48 BRCA1 YY1

Genomic Location for HMCES Gene

Chromosome:
3
Start:
129,278,816 bp from pter
End:
129,306,186 bp from pter
Size:
27,371 bases
Orientation:
Plus strand

Genomic View for HMCES Gene

Genes around HMCES on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HMCES Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HMCES Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HMCES Gene

Proteins for HMCES Gene

  • Protein details for HMCES Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96FZ2-HMCES_HUMAN
    Recommended name:
    Embryonic stem cell-specific 5-hydroxymethylcytosine-binding protein
    Protein Accession:
    Q96FZ2
    Secondary Accessions:
    • A6NJR9
    • Q96G34
    • Q9NRP3

    Protein attributes for HMCES Gene

    Size:
    354 amino acids
    Molecular mass:
    40575 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAF86870.1; Type=Frameshift; Positions=285, 326, 344; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for HMCES Gene

neXtProt entry for HMCES Gene

Post-translational modifications for HMCES Gene

  • Ubiquitination at Lys 44 and Lys 89
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for HMCES Gene

Domains & Families for HMCES Gene

Protein Domains for HMCES Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for HMCES Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96FZ2

UniProtKB/Swiss-Prot:

HMCES_HUMAN :
  • Belongs to the SOS response-associated peptidase family.
Family:
  • Belongs to the SOS response-associated peptidase family.
genes like me logo Genes that share domains with HMCES: view

No data available for Gene Families for HMCES Gene

Function for HMCES Gene

Molecular function for HMCES Gene

UniProtKB/Swiss-Prot Function:
Specifically binds 5-hydroxymethylcytosine (5hmC)-containing DNA in stem cells, suggesting that it acts as a specific reader of 5hmC in stem cells (By similarity). May act as a peptidase; experimental evidences are however required to confirm this prediction (PubMed:23945014).

Enzyme Numbers (IUBMB) for HMCES Gene

Gene Ontology (GO) - Molecular Function for HMCES Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0008233 peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with HMCES: view

Phenotypes for HMCES Gene

genes like me logo Genes that share phenotypes with HMCES: view

Animal Model Products

miRNA for HMCES Gene

miRTarBase miRNAs that target HMCES

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HMCES Gene

Localization for HMCES Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HMCES gene
Compartment Confidence
nucleus 4
peroxisome 2
cytosol 2
mitochondrion 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for HMCES Gene

Pathways & Interactions for HMCES Gene

SuperPathways for HMCES Gene

No Data Available

Interacting Proteins for HMCES Gene

Gene Ontology (GO) - Biological Process for HMCES Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
genes like me logo Genes that share ontologies with HMCES: view

No data available for Pathways by source and SIGNOR curated interactions for HMCES Gene

Transcripts for HMCES Gene

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for HMCES Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10a · 10b
SP1: - - - - - -
SP2: -
SP3: - -
SP4: - - - - - - -
SP5: - - -
SP6: - -
SP7: - - - - -
SP8:
SP9: - - -

Relevant External Links for HMCES Gene

GeneLoc Exon Structure for
HMCES
ECgene alternative splicing isoforms for
HMCES

Expression for HMCES Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HMCES Gene

Protein differential expression in normal tissues from HIPED for HMCES Gene

This gene is overexpressed in Testis (22.9), Ovary (9.4), CD8 Tcells (9.1), and Fetal ovary (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HMCES Gene



Protein tissue co-expression partners for HMCES Gene

NURSA nuclear receptor signaling pathways regulating expression of HMCES Gene:

HMCES
genes like me logo Genes that share expression patterns with HMCES: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for HMCES Gene

Orthologs for HMCES Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for HMCES Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C3H3orf37 34
  • 99.44 (n)
HMCES 35
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C20H3orf37 34
  • 87.35 (n)
HMCES 35
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hmces 34 16 35
  • 84.85 (n)
rat
(Rattus norvegicus)
Mammalia Hmces 34
  • 84.56 (n)
cow
(Bos Taurus)
Mammalia HMCES 35
  • 81 (a)
OneToOne
C22H3orf37 34
  • 80.7 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia HMCES 35
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HMCES 35
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves C12H3ORF37 35 34
  • 65.54 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HMCES 35
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hmces 34
  • 64.44 (n)
MGC75607 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.5297 34
zebrafish
(Danio rerio)
Actinopterygii hmces 34 35
  • 58.93 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG11986 34 35
  • 49.49 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003544 34
  • 46.62 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 35
  • 24 (a)
OneToOne
Species where no ortholog for HMCES was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HMCES Gene

ENSEMBL:
Gene Tree for HMCES (if available)
TreeFam:
Gene Tree for HMCES (if available)

Paralogs for HMCES Gene

No data available for Paralogs for HMCES Gene

Variants for HMCES Gene

Sequence variations from dbSNP and Humsavar for HMCES Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs10685511 -- 129,301,435(+) ACACT(-/TT)GCATT intron-variant
rs10700869 -- 129,301,222(+) AAAAA(-/CAAA)ATATG intron-variant
rs10712 -- 129,305,196(-) AAAAA(C/G)TGAAA utr-variant-3-prime
rs10934877 -- 129,292,202(+) ATTTA(A/G)TCTGA intron-variant
rs10934878 -- 129,293,901(+) GTTGG(A/G)TTTTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HMCES Gene

Variant ID Type Subtype PubMed ID
nsv1123689 CNV deletion 24896259
nsv1127992 CNV deletion 24896259
nsv520607 CNV gain+loss 19592680
nsv829722 CNV gain 17160897

Variation tolerance for HMCES Gene

Residual Variation Intolerance Score: 25.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.28; 62.70% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HMCES Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HMCES

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HMCES Gene

Disorders for HMCES Gene

Relevant External Links for HMCES

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HMCES

No disorders were found for HMCES Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for HMCES Gene

Publications for HMCES Gene

  1. Novel autoproteolytic and DNA-damage sensing components in the bacterial SOS response and oxidized methylcytosine-induced eukaryotic DNA demethylation systems. (PMID: 23945014) Aravind L. … Iyer L.M. (Biol. Direct 2013) 2 3 4 64
  2. Dynamic readers for 5-(hydroxy)methylcytosine and its oxidized derivatives. (PMID: 23434322) Spruijt C.G. … Vermeulen M. (Cell 2013) 2 3 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. 5-Hydroxymethylcytosine, the "Sixth Base", during brain development and ageing. (PMID: 25471351) Kraus T.F. … Kretzschmar H.A. (J Neural Transm (Vienna) 2015) 3 64
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64

Products for HMCES Gene

Sources for HMCES Gene

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