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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SRMS Gene

protein-coding   GIFtS: 52
GCID: GC20M062172

src-related kinase lacking C-terminal regulatory tyrosine...

(Previous name: chromosome 20 open reading frame 148 )
(Previous symbol: C20orf148)
 Explore 4 diseases affiliated with
SRMS via our new
 Human Malady Compendium 
Biological research products
for SRMS
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Src-Related Kinase Lacking C-Terminal Regulatory Tyrosine And N-Terminal
Myristylation Sites1 2
     EC 2.7.10.23 8
C20orf1481 2 3     Chromosome 20 Open Reading Frame 1481
SRM1 2     Tyrosine-Protein Kinase Srms2
DJ697K14.11     EC 2.7.108

External Ids:    HGNC: 112981   Entrez Gene: 67252   Ensembl: ENSG000001255087   UniProtKB: Q9H3Y63   

Export aliases for SRMS gene to outside databases

Previous GC identifers: GC00U990353 GC20M062009 GC20M062851 GC20M062899 GC20M062900 GC20M061642 GC20M058902


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: SRMS_HUMAN, Q9H3Y6
Function: May be involved in proliferation or differentiation of keratinocytes in the skin (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NC_018931.1  NT_011333.6  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SRMS gene promoter:
         Egr-3   NF-1   p53   AP-1   HTF   ATF-2   AREB6   S8   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSRMS promoter sequence
   Search SABiosciences Chromatin IP Primers for SRMS

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SRMS


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Ensembl cytogenetic band:  20q13.33   HGNC cytogenetic band: 20q13.33

SRMS Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SRMS gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M062172:  view genomic region     (about GC identifiers)

Start:
62,172,163 bp from pter      End:
62,178,857 bp from pter
Size:
6,695 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: SRMS_HUMAN, Q9H3Y6 (See protein sequence)
Recommended Name: Tyrosine-protein kinase Srms  
Size: 488 amino acids; 54507 Da

Explore the universe of human proteins at neXtProt for SRMS: NX_Q9H3Y6

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9H3Y6

  • 4 DME Specific Peptides for SRMS (Q9H3Y6)
     KWTAPEA  RDLAARN  AARNVLV  KSDVWSFG 

    SRMS Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_543013.1  
    ENSEMBL proteins: 
     ENSP00000217188  

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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    SRMS for domains           About GeneDecksing

    5/8 InterPro domains/families (see all 8):
     IPR017441 Protein_kinase_ATP_BS
     IPR001245 Ser-Thr/Tyr_kinase_cat_dom
     IPR011009 Kinase-like_dom
     IPR000980 SH2
     IPR001452 SH3_domain

    Graphical View of Domain Structure for InterPro Entry Q9H3Y6

    ProtoNet protein and cluster: Q9H3Y6

    2 Blocks protein families:
    IPB000980 SH2 domain signature
    IPB008266 Tyrosine protein kinase


    UniProtKB/Swiss-Prot: SRMS_HUMAN, Q9H3Y6
    Similarity: Belongs to the protein kinase superfamily. Tyr protein kinase family. SRC subfamily
    Similarity: Contains 1 protein kinase domain
    Similarity: Contains 1 SH2 domain
    Similarity: Contains 1 SH3 domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: SRMS_HUMAN, Q9H3Y6
    Function: May be involved in proliferation or differentiation of keratinocytes in the skin (By similarity)
    Catalytic activity: ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate

    Enzyme Numbers (IUBMB): EC 2.7.10.21 2 EC 2.7.102

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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004715non-membrane spanning protein tyrosine kinase activity IEA--
    GO:0005524ATP binding IEA--


    SRMS for ontologies           About GeneDecksing


    6 GenomeRNAi human phenotypes for SRMS:
     Decreased focal adhesion (FA)   Decreased substrate adherent c  Gemcitabine induced cell-death  Increased S DNA content, incre 
     Increased mitotic index  Synthetic lethal with Ras 

    Animal Models:
         Mouse knock-out Srmstm1Sia for SRMS
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Srms):
     normal 

    SRMS for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Focal Adhesion
    Focal Adhesion1.00


    1 BioSystems Pathway for SRMS 
        Focal Adhesion


    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SRMS

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for SRMS

    2 HMDB Compounds for SRMS    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Search CenterWatch for drugs/clinical trials and news about SRMS 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SRMS gene: 
    NM_080823.2  

    Unigene Cluster for SRMS:

    Src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites
    Hs.411061  [show with all ESTs]
    Unigene Representative Sequence: NM_080823
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000217188(uc002yfi.1)

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    Inhib. RNA
    Products:
         
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    OriGene siRNA: SRMS
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    5 DOTS entries:

    DT.95341160  DT.120833226  DT.99947617  DT.92044841  DT.99981520 

    10 AceView cDNA sequences:

    NM_080823 BF762532 BM784153 BI835187 BF330815 BE066428 BE075993 BM742718 
    BF330886 BE075953 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for SRMS    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c ^ 4
    SP1:              -                       -         
    SP2:                                                
    SP3:              -                                 


    ECgene alternative splicing isoforms for SRMS

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SRMS expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTGGAGTGCT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See SRMS Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SRMS

    SOURCE GeneReport for Unigene cluster: Hs.411061
        SABiosciences Custom PCR Arrays for SRMS
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SRMS

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SRMS gene from 4/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves SRMS1 src-related kinase lacking C-terminal regulatory tyrosine more 69.17(n)
    63.54(a)
      419246  XM_417420.2  XP_417420.2 
    lizard
    (Anolis carolinensis)
    Reptilia SRMS6
    --
    60(a)
    1 ↔ 1
    4(154347906-154393042)
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1942821 zgc:194282 54.24(n)
    45.63(a)
      100192213  NM_001136250.2  NP_001129722.2 
    worm
    (Caenorhabditis elegans)
    Secernentea abl-16
    Tyrosine-protein kinase abl-1
    14(a)
    1 → many
    X(10605769-10624122)


    ENSEMBL Gene Tree for SRMS (if available)
    TreeFam Gene Tree for SRMS (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SRMS gene
    FRK2  LCK2  BLK2  ITK2  LYN2  YES12  TXK2  HCK2  
    ABL12  BMX2  ABL22  TEC2  FGR2  PTK62  SRC2  FYN2  
    BTK2  
    18/36 SIMAP similar genes for SRMS using alignment to 1 protein entry:     SRMS_HUMAN(see all similar genes):
    EPHA2    FGR    EPHA5    EPHA6    FYN    BLK
    PTK6    SRC    FGFR4    FRK    HCK    EPHA3
    BMX    FGFR2    LYN    LCK    ABL2    BCR/ABL fusion

    SRMS for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/267 NCBI SNPs in SRMS are shown (see all 267    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1863996421,2
    --62171777(+) GCCTCC/GGAGGC 1 -- ds50010--------
    rs1916666111,2
    --62171849(+) ACGGGA/GAACGT 1 -- ds50010--------
    rs1496403591,2
    --62171984(+) TGCACA/GGGGGA 1 -- ds50010--------
    rs1433698391,2
    --62172031(+) TGCACA/GAACAT 1 -- ds50010--------
    rs1834387781,2
    C,--62172125(+) GGAGGA/GGGGGC 1 -- ds50010--------
    rs1463732711,2
    C--62172179(+) GGGGTG/AGCATC 2 /H /Y mis11Minor allele frequency- A:0.00NA 4528
    rs1860385291,2
    C,--62172195(+) ATGGCA/GTGCAG 2 H syn10--------
    rs61221301,2
    C,F,A,H,--62172219(+) GTGGCG/AAAGGA 2 /F syn19Minor allele frequency- A:0.18NA EA EU 5995
    rs339336491,2
    C,F,--62172244(-) GAGGAG/CCAGCC 2 /T /S mis16Minor allele frequency- C:0.02NA EU 5683
    rs3106541,2
    C,F,A,H,--62172269(+) GAGCAC/AGTAGA 2 /V /L mis1 ese326Minor allele frequency- A:0.19NS EA NA WA CSA EU 7598

    HapMap Linkage Disequilibrium report for SRMS (62172163 - 62178857 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 13 variations for SRMS
         13 CNVs: 30136 31044 50713 30137 50714 5149 5150 53244 4107 53251 50712 10590 30135

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    SRMS for disorders           About GeneDecksing

    4 diseases for SRMS:    About MalaCards
    xanthogranulomatous pyelonephritis    angiomyolipoma    pyelonephritis    osteoarthritis

    3 diseases from the University of Copenhagen DISEASES database for SRMS:
    Renal cell carcinoma     Angiomyolipoma     Osteoarthritis

    Export disorders for SRMS gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SRMS gene integrated from 9 sources:
    (articles sorted by number of sources associating them with SRMS)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
    2. A novel nonreceptor tyrosine kinase, Srm: cloning and targeted disruption. (PubMed id 7935409)1, 3 Kohmura N....Aizawa S. (1994)
    3. Comparison of substrate specificity of the ubiquitin ligases Nedd4 and Nedd4-2 using proteome arrays. (PubMed id 19953087)1 Persaud A....Rotin D. (2009)
    4. Patterns of somatic mutation in human cancer genomes. (PubMed id 17344846)2 Greenman C.... Stratton M.R. (2007)
    5. RAKing in AKT: a tumor suppressor function for the in tracellular tyrosine kinase FRK. (PubMed id 19652529)9 Brauer P.M. and Tyner A.L. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6725 HGNC: 11298 AceView: SRMS Ensembl:ENSG00000125508 euGenes: HUgn6725
    ECgene: SRMS H-InvDB: SRMS

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SRMS Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SRMS gene:
    Search GeneIP for patents involving SRMS

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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    Advanced Cell Diagnostics
    About This Section

     
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    VWF
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    von Willebrand factor
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    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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