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Aliases for SCMH1 Gene

Aliases for SCMH1 Gene

  • Scm Polycomb Group Protein Homolog 1 2 3 5
  • Sex Comb On Midleg Homolog 1 3 4
  • Sex Comb On Midleg Homolog 1 (Drosophila) 2
  • 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 (Scm Polycomb Group Protein Homolog 1) is a Protein Coding gene. Among its related pathways are Cellular Senescence (REACTOME) and SUMOylation. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity 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

Additional gene information for SCMH1 Gene

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

Genomics for SCMH1 Gene

GeneHancer (GH) Regulatory Elements for SCMH1 Gene

Promoters and enhancers for SCMH1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J041238 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE 658.9 +1.0 1035 5.6 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A FEZF1 YBX1 YY1 SLC30A9 ENSG00000235358 SCMH1 LOC102723924 EXO5 FOXO6 NFYC CTPS1 PIR51229
GH01J041164 Promoter 0.5 EPDnew 650.2 +77.7 77721 0.1 SCMH1 ENSG00000235358 GC01M041160 PIR51229
GH01J040372 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.5 +866.3 866306 5.9 FEZF1 YY1 SLC30A9 ZNF143 SP3 NFYC MEF2D ZNF610 GLIS1 NBN SMAP2 PPIEL EXO5 PPIE TRIT1 ENSG00000259943 NFYC-AS1 RLF LOC105378674 ENSG00000229528
GH01J040976 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE 9.7 +263.0 262955 6.1 HDGF PKNOX1 SMAD1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B CTPS1 GC01M040907 EXO5 SLFNL1 NFYC ENSG00000235358 RLF SCMH1 FOXO6
GH01J041002 Enhancer 1.3 Ensembl ENCODE 7.4 +238.3 238287 1.8 HDGF PKNOX1 CLOCK SMAD1 ARNT ARID4B SIN3A FEZF1 ZNF2 IRF4 ENSG00000235358 EXO5 FOXO6 NFYC SCMH1 GC01M041011 CTPS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SCMH1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SCMH1 gene promoter:
  • MEF-2A
  • aMEF-2
  • CUTL1
  • POU3F1
  • POU2F1a
  • POU2F1
  • Bach1
  • S8
  • MRF-2
  • c-Rel

Genomic Locations for SCMH1 Gene

Genomic Locations for SCMH1 Gene
chr1:41,027,199-41,242,159
(GRCh38/hg38)
Size:
214,961 bases
Orientation:
Minus strand
chr1:41,492,871-41,707,826
(GRCh37/hg19)
Size:
214,956 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

Gene 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 :
  • Belongs to the SCM family.
Family:
  • Belongs to the SCM family.
genes like me logo Genes that share domains with SCMH1: view

Function for SCMH1 Gene

Molecular function for SCMH1 Gene

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.
GENATLAS Biochemistry:
Drosophila sex comb on midley homolog,widely expressed,with isoforms

Phenotypes From GWAS Catalog for SCMH1 Gene

Gene Ontology (GO) - Molecular Function for SCMH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
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

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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Nuclear bodies (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SCMH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
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

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 CGAP 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, 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.

Evidence on tissue expression from TISSUES for SCMH1 Gene

  • Nervous system(4.6)
genes like me logo Genes that share expression patterns with SCMH1: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33
  • 99.85 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SCMH1 34 33
  • 94.2 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SCMH1 34 33
  • 92.94 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Scmh1 33
  • 91.35 (n)
mouse
(Mus musculus)
Mammalia Scmh1 16 34 33
  • 91.3 (n)
oppossum
(Monodelphis domestica)
Mammalia SCMH1 34
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SCMH1 34
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves SCMH1 34 33
  • 79.39 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SCMH1 34
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia scmh1 33
  • 68.82 (n)
Str.17540 33
zebrafish
(Danio rerio)
Actinopterygii scmh1 34
  • 56 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Scm 34 35
  • 27 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6357 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SCMH1: view image

Paralogs for SCMH1 Gene

Paralogs for SCMH1 Gene

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

  • SCMH1_HUMAN
  • J3KPV8_HUMAN

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 Variation AA Info Type
rs1000005548 -- 41,129,368(-) C/T intron_variant
rs1000017210 -- 41,123,215(-) C/G intron_variant
rs1000037567 -- 41,085,136(-) AAATAAAATAAAATAAAA/AAATAAAATAAAA intron_variant
rs1000044786 -- 41,130,808(-) G/T intron_variant
rs1000048207 -- 41,039,760(-) A/C genic_downstream_transcript_variant, intron_variant

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

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

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)

Additional Variant Information for SCMH1 Gene

Human Gene Mutation Database (HGMD)
SCMH1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SCMH1

SNP Genotyping and Copy Number Assay Products

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

Disorders for SCMH1 Gene

Additional Disease Information for SCMH1

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

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 58
  2. The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature. (PMID: 20546612) Zhao J … Grant SF (BMC medical genetics 2010) 3 44 58
  3. Genetic determinants of height growth assessed longitudinally from infancy to adulthood in the northern Finland birth cohort 1966. (PMID: 19266077) Sovio U … Jarvelin MR (PLoS genetics 2009) 3 44 58
  4. Genome-wide association analysis identifies 20 loci that influence adult height. (PMID: 18391952) Weedon MN … Frayling TM (Nature genetics 2008) 3 44 58
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58

Products for SCMH1 Gene

Sources for SCMH1 Gene

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