Aliases for SCML1 Gene

Aliases for SCML1 Gene

  • Scm Polycomb Group Protein Like 1 2 3 5
  • Sex Comb On Midleg-Like Protein 1 3 4
  • Sex Comb On Midleg (Drosophila)-Like 1 2
  • Sex Comb On Midleg Like 1 (Drosophila) 2
  • Sex Comb On Midleg Like 1 3
  • SCML1 5

External Ids for SCML1 Gene

Previous GeneCards Identifiers for SCML1 Gene

  • GC0XP017299
  • GC0XP016421
  • GC0XP016957
  • GC0XP017117
  • GC0XP017515
  • GC0XP017665
  • GC0XP015514

Summaries for SCML1 Gene

GeneCards Summary for SCML1 Gene

SCML1 (Scm Polycomb Group Protein Like 1) is a Protein Coding gene. Diseases associated with SCML1 include Nance-Horan Syndrome. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity. An important paralog of this gene is SCMH1.

UniProtKB/Swiss-Prot Summary for SCML1 Gene

  • Putative Polycomb group (PcG) protein. PcG proteins act by forming multiprotein complexes, which are required to maintain the transcriptionally repressive state of homeotic genes throughout development. May be involved in spermatogenesis during sexual maturation (By similarity).

Additional gene information for SCML1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SCML1 Gene

Genomics for SCML1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SCML1 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
GH0XJ017735 Promoter/Enhancer 2.3 UCNEbase EPDnew Ensembl ENCODE CraniofacialAtlas 608.2 +0.6 632 5.8 SP1 CREB1 GATAD2A PRDM10 ZNF629 KDM1A ZNF692 RCOR2 TARDBP FOXA1 SCML1 lnc-RAI2-5 HSALNG0136860 RAI2 NHS
GH0XJ017412 Enhancer 0.9 ENCODE 10.5 -323.0 -322967 4.5 PRDM10 ZNF629 RFX1 ZNF692 PRDM1 ZSCAN4 PATZ1 IKZF2 ZNF148 CEBPB RAI2 NHS CTPS2 TXLNG SCML1 RBBP7 RF00017-8185 piR-43105-686
GH0XJ018103 Promoter 0.7 EPDnew Ensembl 4.8 +366.7 366652 1.8 LINC01456 piR-52368-174 piR-57176-670 SCML1 piR-33422-465 BEND2 RAI2
GH0XJ017593 Enhancer 0.7 Ensembl ENCODE 4.2 -141.2 -141233 4.8 SP1 BCL11A NFIC NFIB FOXA1 JUN MTA2 NHS SCML1 SCML2 piR-33804-169 piR-55194-428
GH0XJ017710 Enhancer 0.6 Ensembl 4.5 -26.4 -26448 0.4 CEBPA ETS1 TCF7 TGIF2 FOXA2 SAP130 FOSL2 TFAP4 MXI1 NFIL3 SCML1 piR-31937-260 CHP1P3 ENSG00000226153 lnc-RAI2-3 lnc-RAI2-5 NHS
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SCML1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SCML1

Top Transcription factor binding sites by QIAGEN in the SCML1 gene promoter:
  • aMEF-2
  • Evi-1
  • HEN1
  • LUN-1
  • Pax-2
  • Pax-2a
  • Pax-4a
  • POU2F1
  • POU2F1a
  • YY1

Genomic Locations for SCML1 Gene

Genomic Locations for SCML1 Gene
chrX:17,737,449-17,754,988
(GRCh38/hg38)
Size:
17,540 bases
Orientation:
Plus strand
chrX:17,755,588-17,773,105
(GRCh37/hg19)
Size:
17,518 bases
Orientation:
Plus strand

Genomic View for SCML1 Gene

Genes around SCML1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SCML1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SCML1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SCML1 Gene

Proteins for SCML1 Gene

  • Protein details for SCML1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UN30-SCML1_HUMAN
    Recommended name:
    Sex comb on midleg-like protein 1
    Protein Accession:
    Q9UN30
    Secondary Accessions:
    • B0FZN6
    • B2RA08
    • Q5H968
    • Q5H969

    Protein attributes for SCML1 Gene

    Size:
    329 amino acids
    Molecular mass:
    37447 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SCML1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SCML1 Gene

Post-translational modifications for SCML1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SCML1 Gene

Domains & Families for SCML1 Gene

Gene Families for SCML1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for SCML1 Gene

InterPro:
Blocks:
  • Sterile alpha motif SAM
ProtoNet:

Suggested Antigen Peptide Sequences for SCML1 Gene

GenScript: Design optimal peptide antigens:
  • Sex comb on midleg-like 1 (Drosophila) (Q5H967_HUMAN)
  • Sex comb on midleg-like protein 1 (SCML1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UN30

UniProtKB/Swiss-Prot:

SCML1_HUMAN :
  • Belongs to the SCM family.
Family:
  • Belongs to the SCM family.
genes like me logo Genes that share domains with SCML1: view

Function for SCML1 Gene

Molecular function for SCML1 Gene

UniProtKB/Swiss-Prot Function:
Putative Polycomb group (PcG) protein. PcG proteins act by forming multiprotein complexes, which are required to maintain the transcriptionally repressive state of homeotic genes throughout development. May be involved in spermatogenesis during sexual maturation (By similarity).
GENATLAS Biochemistry:
Drosophila sex comb on midleg-like 1 homolog,polycomb group (PcG),involved in transcriptional repression of HOX genes

Phenotypes From GWAS Catalog for SCML1 Gene

Gene Ontology (GO) - Molecular Function for SCML1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding TAS --
GO:0003682 chromatin binding IBA 21873635
GO:0003700 DNA-binding transcription factor activity TAS --
GO:0005515 protein binding IEA --
GO:0042393 histone binding IBA 21873635
genes like me logo Genes that share ontologies with SCML1: view
genes like me logo Genes that share phenotypes with SCML1: view

Animal Model Products

CRISPR Products

miRNA for SCML1 Gene

miRTarBase miRNAs that target SCML1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SCML1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SCML1 Gene

Localization for SCML1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SCML1 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 SCML1 gene
Compartment Confidence
nucleus 5
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SCML1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IBA 21873635
genes like me logo Genes that share ontologies with SCML1: view

Pathways & Interactions for SCML1 Gene

PathCards logo

SuperPathways for SCML1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SCML1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0009653 anatomical structure morphogenesis TAS --
GO:0045892 negative regulation of transcription, DNA-templated IBA 21873635
genes like me logo Genes that share ontologies with SCML1: view

No data available for Pathways by source and SIGNOR curated interactions for SCML1 Gene

Drugs & Compounds for SCML1 Gene

No Compound Related Data Available

Transcripts for SCML1 Gene

mRNA/cDNA for SCML1 Gene

4 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SCML1

Alternative Splicing Database (ASD) splice patterns (SP) for SCML1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11
SP1: - - -
SP2: - - - -
SP3: - - - -
SP4: - - - - -
SP5: - - - - -
SP6: - - -
SP7: - - -
SP8: -
SP9:
SP10:

Relevant External Links for SCML1 Gene

GeneLoc Exon Structure for
SCML1

Expression for SCML1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SCML1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SCML1 Gene

This gene is overexpressed in Testis (40.1), Ovary (18.0), and Plasma (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SCML1 Gene



Protein tissue co-expression partners for SCML1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SCML1

SOURCE GeneReport for Unigene cluster for SCML1 Gene:

Hs.109655

mRNA Expression by UniProt/SwissProt for SCML1 Gene:

Q9UN30-SCML1_HUMAN
Tissue specificity: Ubiquitous. Expressed in fetal and adult tissues.

Evidence on tissue expression from TISSUES for SCML1 Gene

  • Liver(4.4)
  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with SCML1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for SCML1 Gene

Orthologs for SCML1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SCML1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SCML1 30 31
  • 96.96 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SCML1 30 31
  • 68.21 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SCML1 30 31
  • 64.96 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 15 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii l3mbtl1b 31
  • 6 (a)
ManyToMany
Fruit Fly
(Drosophila melanogaster)
Insecta l(3)mbt 31
  • 2 (a)
OneToMany
Species where no ortholog for SCML1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Chicken (Gallus gallus)
  • 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)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Mouse (Mus musculus)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for SCML1 Gene

ENSEMBL:
Gene Tree for SCML1 (if available)
TreeFam:
Gene Tree for SCML1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SCML1: view image

Paralogs for SCML1 Gene

genes like me logo Genes that share paralogs with SCML1: view

Variants for SCML1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SCML1 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
720065 Benign: not provided 17,749,482(+) C/T MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for SCML1 Gene

Variation tolerance for SCML1 Gene

Residual Variation Intolerance Score: 48.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.02; 0.36% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SCML1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SCML1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for SCML1 Gene

Disorders for SCML1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SCML1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
nance-horan syndrome
  • nhs
- elite association - COSMIC cancer census association via MalaCards
Search SCML1 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with SCML1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SCML1 Gene

Publications for SCML1 Gene

  1. Characterization of SCML1, a new gene in Xp22, with homology to developmental polycomb genes. (PMID: 9570953) van de Vosse E … Trump D (Genomics 1998) 2 3 4
  2. Adaptive evolution of SCML1 in primates, a gene involved in male reproduction. (PMID: 18601738) Wu HH … Su B (BMC evolutionary biology 2008) 3 4
  3. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross MT … Bentley DR (Nature 2005) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for SCML1 Gene

Sources for SCML1 Gene