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FLASH GENE
Symbol SCML1 contributors: mct - updated : 18-07-2008
HGNC name sex comb on midleg-like 1 (Drosophila)
HGNC id 10580
Location Xp22      Physical location : 17.755.591 - 17.773.104
Synonym name sex comb on midleg-like 1
DNA
TYPE functioning gene
SPECIAL FEATURE component of a cluster, opposite orientation
text
  • clustered with SCML2
  • transcribed from telomere to centromere
  • STRUCTURE 17.00 kb     8 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map pter - DXS418 - SCML1 - DXS7994 - DXS7995 - DXS7996 - cen
    Authors van de Vosse (98)
    Physical map
    ASB11 Xp22.31 ankyrin repeat and SOCS box-containing 11 PIGA Xp22.1 phosphatidylinositol glycan, class A (paroxysmal nocturnal hemoglobinuria) FIGF Xp22.1 c-fos induced growth factor (vascular endothelial growth factor D) PIR Xp22.31 c-fos induced growth factor (vascular endothelial growth factor D) BMX Xp22.2 BMX non-receptor tyrosine kinase ACE2 Xp22 angiotensin I converting enzyme (peptidyl-dipeptidase A) 2 NX17 Xp22 kidney-specific membrane protein LOC340591 Xp22.31 similar to carbonic anhydrase VB, mitochondrial precursor; carbonic dehydratase CA5B Xp22.1 carbonic anhydrase VB, mitochondrial U2AF1L2 Xp22.1 U2(RNU2) small nuclear RNA auxiliary factor 1-like 2 AP1S2 Xp36.3-p21.3 adaptor-related protein complex 1, sigma 2 subunit GRPR Xp22.2-p22.13 gastrin-releasing peptide receptor LOC139451 Xp22.22 similar to melanoma antigen, family B, 4; melanoma-associated antigen B4 LOC139452 Xp22.22 similar to 60S ribosomal protein L6 (TAX-responsive enhancer element binding protein 107) (TAXREB107) (Neoplasm-related protein C140) LOC392429 X similar to Hspcb protein CTPS2 Xp22 CTP synthase II CALB3 Xp22.2 calbindin 3, (vitamin D-dependent calcium binding protein) SYAP1 Xp22.31 synapse associated protein 1, SAP47 homolog (Drosophila) CXorf15 Xp22.22 chromosome X open reading frame 15 RBBP7 Xp22.31 retinoblastoma binding protein 7 RNU4P6 Xp22.22 RNA, U4 small nuclear pseudogene 6 REPS2 Xp22.22 RALBP1 associated Eps domain containing 2 PRO0386 Xp22.22 hypothetical protein PRO0386 NHS Xp22.13 Nance-Horan syndrome (congenital cataracts and dental anomalies) SCML1 Xp22 sex comb on midleg-like 1 (Drosophila) LOC392430 X similar to dJ40E16.3 (novel gene similar to D. melanogaster CG5327 ) RAI2 Xp22 retinoic acid induced 2 LOC392431 X similar to Mdm4, transformed 3T3 cell double minute 4, p53 binding protein (mouse) MGC33653 Xp22.22 hypothetical protein MGC33653 SCML2 Xp22 sex comb on midleg-like 2 (Drosophila) CDKL5 Xp22 cyclin-dependent kinase-like 5 RS1 Xp22.2 retinoschisis (X-linked, juvenile) 1 PPEF1 Xp22.2-p22.1 protein phosphatase, EF hand calcium-binding domain 1 PHKA2 Xp22.2-p22.13 phosphorylase kinase, alpha 2 (liver) GPR64 Xp22.22 G protein-coupled receptor 64 PDHA1 Xp22.1 pyruvate dehydrogenase (lipoamide) alpha 1 LOC389840 X similar to MAP/ERK kinase kinase 5; apoptosis signal regulating kinase SH3KBP1 Xp22.3-p11.3 SH3-domain kinase binding protein 1 LOC256643 Xp22.13 hypothetical protein LOC256643 FLJ14503  hypothetical protein FLJ14503 EIF1A Xp22.1 eukaryotic translation initiation factor 1A RPS6KA3 Xp22.13 ribosomal protein S6 kinase, 90kDa, polypeptide 3
    RNA
    TRANSCRIPTS type messenger
    text alternatively spliced transcripts (Van de Vosse), transcribed from telomere to centromere
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - - 2693 23 208 - Ross(2005)
    - - 2690 23 208 - Ross(2005)
    - - 2923 - 329 - Ross(2005)
    - - 2842 - 302 - Ross(2005)
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestiveliver   highly
    Endocrinepancreas    
    Hearing/Equilibriumear   highly
    Reproductivemale systemtestis  highly
    Respiratorylung    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text liver (highly)
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two domains of homology with Drosophila transcriptional repressors of the polycomb PcG genes
  • SAM (sterile alpha motif) domain
  • HOMOLOGY
    interspecies homolog to Drosophila sex comb on midleg-like 1(member of polycomb group (PcG))
    homolog to Drosophila desat 1
    homolog to C.elegans Fat-7
    intraspecies homolog to SCML2
    Homologene
    FAMILY
  • SCM family
  • CATEGORY regulatory , DNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • involved in transcriptional repression of HOX genes
  • likely plays a role in testis development and spermatogenesis
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS development
    text embryogenesis and morphogenesis
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS