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Aliases for SCMH1 Gene

Aliases for SCMH1 Gene

  • Sex Comb On Midleg Homolog 1 (Drosophila) 2 3 5
  • Sex Comb On Midleg Homolog 1 4
  • Polycomb Protein SCMH1 3
  • Scml3 3

External Ids for SCMH1 Gene

Previous GeneCards Identifiers for SCMH1 Gene

  • GC01M041527
  • GC01M040496
  • GC01M040956
  • GC01M040906
  • GC01M041161
  • GC01M041265
  • GC01M039609

Summaries for SCMH1 Gene

GeneCards Summary for SCMH1 Gene

SCMH1 (Sex Comb On Midleg Homolog 1 (Drosophila)) is a Protein Coding gene. Among its related pathways are SUMOylation and Cellular Senescence. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and sequence-specific DNA binding. An important paralog of this gene is SCML2.

UniProtKB/Swiss-Prot for SCMH1 Gene

  • Associates with Polycomb group (PcG) multiprotein complexes; the complex class is required to maintain the transcriptionally repressive state of some genes.

Gene Wiki entry for SCMH1 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SCMH1 Gene

Genomics for SCMH1 Gene

Regulatory Elements for SCMH1 Gene

Enhancers for SCMH1 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
GH01F041238 1.1 ENCODE 8.9 +1.0 1036 5.6 HDGF PKNOX1 CREB3L1 MLX ARID4B SIN3A YBX1 FEZF1 YY1 SLC30A9 EXO5 ENSG00000235358 FOXO6 SCMH1 CTPS1 PIR51229
GH01F041002 1.3 Ensembl ENCODE 7.4 +238.3 238287 1.8 PKNOX1 ARNT CREB3L1 ARID4B SIN3A FEZF1 ZNF2 CBX5 ZNF143 FOS ENSG00000235358 FOXO6 EXO5 SCMH1 GC01M041011 CTPS1
GH01F041107 1.2 Ensembl ENCODE 7.4 +132.7 132720 2.9 HDGF ARNT ZFP64 FEZF1 YY1 ZNF416 ZNF143 ZNF207 FOS DEK FOXO6 ENSG00000235358 RLF ENSG00000259943 CTPS1 SCMH1 RPL23AP17 GC01M041130
GH01F041013 1 Ensembl ENCODE 7.3 +227.2 227234 2.4 BCOR SMARCA5 KLF1 JUN ZMYM3 NFXL1 ZIC2 POLR2A ZNF143 ZNF580 ENSG00000235358 FOXO6 SLFNL1 SCMH1 CTPS1 SLFNL1-AS1
GH01F041100 0.8 Ensembl ENCODE 7.5 +140.3 140258 2.2 JUND CEBPB ZBTB33 SUPT20H ZNF623 RAD21 YY1 SLFNL1 CTPS1 SCMH1 RPL23AP17 GC01M041130
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SCMH1 on UCSC Golden Path with GeneCards custom track

Promoters for SCMH1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001519514 359 2001 CREB3L1 ARID4B SIN3A FEZF1 GLI4 ZNF48 YY1 GTF3C2 GLIS2 KLF7

Genomic Location for SCMH1 Gene

Chromosome:
1
Start:
41,027,199 bp from pter
End:
41,242,159 bp from pter
Size:
214,961 bases
Orientation:
Minus strand

Genomic View for SCMH1 Gene

Genes around SCMH1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SCMH1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SCMH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SCMH1 Gene

Proteins for SCMH1 Gene

  • Protein details for SCMH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96GD3-SCMH1_HUMAN
    Recommended name:
    Polycomb protein SCMH1
    Protein Accession:
    Q96GD3
    Secondary Accessions:
    • B4DRQ8
    • Q5VT76
    • Q6IAJ4
    • Q8WU48
    • Q9UKM5
    • Q9UKM6

    Protein attributes for SCMH1 Gene

    Size:
    660 amino acids
    Molecular mass:
    73354 Da
    Quaternary structure:
    • Interacts with the SAM domain of PHC1 via its SAM domain in vitro (By similarity). Associates with a PRC1-like complex.

    Three dimensional structures from OCA and Proteopedia for SCMH1 Gene

    Alternative splice isoforms for SCMH1 Gene

neXtProt entry for SCMH1 Gene

Post-translational modifications for SCMH1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SCMH1 Gene

Domains & Families for SCMH1 Gene

Protein Domains for SCMH1 Gene

Suggested Antigen Peptide Sequences for SCMH1 Gene

Graphical View of Domain Structure for InterPro Entry

Q96GD3

UniProtKB/Swiss-Prot:

SCMH1_HUMAN :
  • Contains 1 SAM (sterile alpha motif) domain.
  • Belongs to the SCM family.
  • Contains 2 MBT repeats.
Domain:
  • Contains 1 SAM (sterile alpha motif) domain.
Family:
  • Belongs to the SCM family.
Similarity:
  • Contains 2 MBT repeats.
genes like me logo Genes that share domains with SCMH1: view

Function for SCMH1 Gene

Molecular function for SCMH1 Gene

GENATLAS Biochemistry:
Drosophila sex comb on midley homolog,widely expressed,with isoforms
UniProtKB/Swiss-Prot Function:
Associates with Polycomb group (PcG) multiprotein complexes; the complex class is required to maintain the transcriptionally repressive state of some genes.

Gene Ontology (GO) - Molecular Function for SCMH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding TAS 10524249
GO:0003700 transcription factor activity, sequence-specific DNA binding TAS 10524249
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with SCMH1: view
genes like me logo Genes that share phenotypes with SCMH1: view

Animal Models for SCMH1 Gene

MGI Knock Outs for SCMH1:

Animal Model Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SCMH1 Gene

Localization for SCMH1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SCMH1 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 SCMH1 gene
Compartment Confidence
nucleus 5
cytosol 3
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SCMH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IC 10524249
GO:0005654 nucleoplasm TAS --
GO:0010369 chromocenter IEA --
genes like me logo Genes that share ontologies with SCMH1: view

Pathways & Interactions for SCMH1 Gene

genes like me logo Genes that share pathways with SCMH1: view

Gene Ontology (GO) - Biological Process for SCMH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006338 chromatin remodeling IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007275 multicellular organism development IEA --
GO:0007283 spermatogenesis IEA --
genes like me logo Genes that share ontologies with SCMH1: view

No data available for SIGNOR curated interactions for SCMH1 Gene

Drugs & Compounds for SCMH1 Gene

(1) Drugs for SCMH1 Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Beta-Mercaptoethanol Experimental Pharma Target 0
genes like me logo Genes that share compounds with SCMH1: view

Transcripts for SCMH1 Gene

Unigene Clusters for SCMH1 Gene

Sex comb on midleg homolog 1 (Drosophila):
Representative Sequences:

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SCMH1 Gene

No ASD Table

Relevant External Links for SCMH1 Gene

GeneLoc Exon Structure for
SCMH1
ECgene alternative splicing isoforms for
SCMH1

Expression for SCMH1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SCMH1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SCMH1 Gene



Protein tissue co-expression partners for SCMH1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SCMH1 Gene:

SCMH1

SOURCE GeneReport for Unigene cluster for SCMH1 Gene:

Hs.571874

mRNA Expression by UniProt/SwissProt for SCMH1 Gene:

Q96GD3-SCMH1_HUMAN
Tissue specificity: Strongly expressed in heart, muscle and pancreas. Weakly expressed in brain, placenta, lung, liver and kidney.
genes like me logo Genes that share expression patterns with SCMH1: view

Primer Products

No data available for mRNA differential expression in normal tissues and Protein differential expression in normal tissues for SCMH1 Gene

Orthologs for SCMH1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SCMH1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SCMH1 34 35
  • 99.85 (n)
dog
(Canis familiaris)
Mammalia SCMH1 34 35
  • 94.2 (n)
cow
(Bos Taurus)
Mammalia SCMH1 34 35
  • 92.94 (n)
rat
(Rattus norvegicus)
Mammalia Scmh1 34
  • 91.35 (n)
mouse
(Mus musculus)
Mammalia Scmh1 34 16 35
  • 91.3 (n)
oppossum
(Monodelphis domestica)
Mammalia SCMH1 35
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SCMH1 35
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves SCMH1 34 35
  • 79.39 (n)
lizard
(Anolis carolinensis)
Reptilia SCMH1 35
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia scmh1 34
  • 68.82 (n)
Str.17540 34
zebrafish
(Danio rerio)
Actinopterygii scmh1 35
  • 56 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Scm 36 35
  • 58 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6357 35
  • 30 (a)
OneToMany
Species where no ortholog for SCMH1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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 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 SCMH1 Gene

ENSEMBL:
Gene Tree for SCMH1 (if available)
TreeFam:
Gene Tree for SCMH1 (if available)

Paralogs for SCMH1 Gene

Paralogs for SCMH1 Gene

(5) SIMAP similar genes for SCMH1 Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for SCMH1 Gene

genes like me logo Genes that share paralogs with SCMH1: view

Variants for SCMH1 Gene

Sequence variations from dbSNP and Humsavar for SCMH1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1008505 -- 41,094,563(-) AAGAG(A/G)GAGAA intron-variant
rs10127986 -- 41,070,832(+) ATAGT(A/G)TTTTA intron-variant
rs1015091 -- 41,052,369(-) gatcc(C/G)ttgca intron-variant
rs10157481 -- 41,119,448(+) AAAAA(A/C)CAAAA intron-variant
rs10157482 -- 41,119,454(+) CAAAA(A/C)AAAAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SCMH1 Gene

Variant ID Type Subtype PubMed ID
nsv950698 CNV duplication 24416366
nsv945901 CNV duplication 23825009
nsv546103 CNV loss 21841781
nsv519146 CNV gain 19592680
nsv1145338 CNV deletion 24896259
nsv1136081 CNV deletion 24896259
nsv1129129 CNV insertion 24896259
nsv1013869 CNV gain 25217958
esv3585820 CNV loss 21293372
esv3585819 CNV loss 21293372
esv3427723 CNV insertion 20981092
esv3332583 CNV insertion 20981092
esv3304788 CNV mobile element insertion 20981092
esv2669275 CNV deletion 23128226
esv2571087 CNV deletion 19546169
esv24588 CNV loss 19812545

Variation tolerance for SCMH1 Gene

Residual Variation Intolerance Score: 47.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.98; 36.55% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SCMH1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SCMH1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SCMH1 Gene

Disorders for SCMH1 Gene

Relevant External Links for SCMH1

Genetic Association Database (GAD)
SCMH1
Human Genome Epidemiology (HuGE) Navigator
SCMH1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SCMH1

No disorders were found for SCMH1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SCMH1 Gene

Publications for SCMH1 Gene

  1. The human homolog of Sex comb on midleg (SCMH1) maps to chromosome 1p34. (PMID: 10524249) Berger J. … Randazzo F. (Gene 1999) 2 3 4 64
  2. The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature. (PMID: 20546612) Zhao J. … Grant S.F. (BMC Med. Genet. 2010) 3 46 64
  3. Genetic determinants of height growth assessed longitudinally from infancy to adulthood in the northern Finland birth cohort 1966. (PMID: 19266077) Sovio U. … Jarvelin M.R. (PLoS Genet. 2009) 3 46 64
  4. Genome-wide association analysis identifies 20 loci that influence adult height. (PMID: 18391952) Weedon M.N. … Frayling T.M. (Nat. Genet. 2008) 3 46 64
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64

Products for SCMH1 Gene

Sources for SCMH1 Gene

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