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

ROPN1L Gene

protein-coding   GIFtS: 51
GCID: GC05P010441

Rhophilin Associated Tail Protein 1-Like

(Previous name: ropporin 1-like)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Rhophilin Associated Tail Protein 1-Like1 2     Radial Spoke Head 11 Homolog (Chlamydomonas)1
ASP2 3 5     RSPH112
Ropporin 1-Like1 2     Radial Spoke Head 11 Homolog2
AKAP-Associated Sperm Protein2 3     Ropporin-1-Like Protein2
ROPN1-Like Protein2 3     

External Ids:    HGNC: 240601   Entrez Gene: 838532   Ensembl: ENSG000001454917   OMIM: 6117565   UniProtKB: Q96C743   

Export aliases for ROPN1L gene to outside databases

Previous GC identifers: GC00U917002 GC05P010495


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

Entrez Gene summary for ROPN1L Gene:
This gene encodes a member of the ropporin family. The encoded protein is a sperm protein. It interacts with
A-kinase anchoring protein, AKAP3, through the amphipathic helix region of AKAP3. Type II regulatory subunit of
cAMP-dependent protein kinase (PKARII) also binds to this helix domain of AKAP3, which allows PKARII to be
targeted to specific subcellular compartments. It is suggested that sperm contains several proteins that bind to
AKAPs in a manner similar to PKARII, and this encoded protein may be one of them. Alternatively spliced
transcript variants encoding the same protein have been found for this gene.(provided by RefSeq, Jan 2011)

GeneCards Summary for ROPN1L Gene: 
ROPN1L (rhophilin associated tail protein 1-like) is a protein-coding gene. Diseases associated with ROPN1L include breast cancer susceptibility, and breast cancer. GO annotations related to this gene include protein binding and cAMP-dependent protein kinase regulator activity. An important paralog of this gene is ROPN1B.




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.2  NT_006576.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ROPN1L gene promoter:
         AML1a   MEF-2   FOXD3   POU3F2   MEF-2A   NRF-2   Msx-1   aMEF-2   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidROPN1L promoter sequence
   Search SABiosciences Chromatin IP Primers for ROPN1L

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ROPN1L


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

Entrez Gene cytogenetic band: 5p15.2   Ensembl cytogenetic band:  5p15.2   HGNC cytogenetic band: 5p15

ROPN1L Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ROPN1L gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P010441:  view genomic region     (about GC identifiers)

Start:
10,441,636 bp from pter      End:
10,472,141 bp from pter
Size:
30,506 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ROP1L_HUMAN, Q96C74 (See protein sequence)
Recommended Name: Ropporin-1-like protein  
Size: 230 amino acids; 26107 Da
Subunit: May interact with AKAP3
Secondary accessions: D3DTC9 Q9BZX0

Explore the universe of human proteins at neXtProt for ROPN1L: NX_Q96C74

Explore proteomics data for ROPN1L at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96C74

  • ROPN1L Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ROPN1L Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001188395.1  NP_114122.2  

    ENSEMBL proteins: 
     ENSP00000421405   ENSP00000274134  

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    Cloud-Clone Corp. Proteins for ROPN1L 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA18421703
    GO:0031514motile cilium IDA18421703

    ROPN1L for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR003117 cAMP_dep_PK_reg_su_I/II_a/b

    Graphical View of Domain Structure for InterPro Entry Q96C74

    ProtoNet protein and cluster: Q96C74

    UniProtKB/Swiss-Prot: ROP1L_HUMAN, Q96C74
    Similarity: Belongs to the ropporin family
    Similarity: Contains 1 RIIa domain


    ROPN1L for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI18421703
    GO:0008603cAMP-dependent protein kinase regulator activity IEA--
         
    ROPN1L for ontologies           About GeneDecksing


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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ROPN1L

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for ROPN1L (Q96C743 ENSP000002741344) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AKAP3O759693, ENSP000002288504I2D: score=2 STRING: ENSP00000228850
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001539ciliary or bacterial-type flagellar motility IDA18421703
    GO:0007165signal transduction IEA--

    ROPN1L for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ROPN1L (ROP1L)

    Search CenterWatch for drugs/clinical trials and news about ROPN1L / ROP1L

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ROPN1L gene (2 alternative transcripts): 
    NM_001201466.1  NM_031916.4  

    Unigene Cluster for ROPN1L:

    Rhophilin associated tail protein 1-like
    Hs.381089  [show with all ESTs]
    Unigene Representative Sequence: BM563234
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000503804(uc021xwo.1) ENST00000274134(uc003jex.4) ENST00000510520
    ENST00000515762 ENST00000512022
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    hsa-miR-942
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    Inhib. RNA
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    Additional mRNA sequence: 

    AF239723.1 AK098642.1 BC014607.2 

    4 DOTS entries:

    DT.411819  DT.92417883  DT.100813477  DT.91822001 

    24/97 AceView cDNA sequences (see all 97):

    AI336237 AI989818 BE673052 AI968785 BM553311 CR621673 BP370580 BM972093 
    AF239723 BI826214 BI826984 BU687873 AI671514 BU679727 AI627427 BU680903 
    BM692876 BM975831 BU684136 AW593139 NM_031916 BI827363 BX113042 AI632455 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for ROPN1L    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b
    SP1:                                                
    SP2:                                                


    ECgene alternative splicing isoforms for ROPN1L

    (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

    ROPN1L expression in normal human tissues (normalized intensities)      ROPN1L embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATAGGTCTTT
    ROPN1L Expression
    About this image


    ROPN1L expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Pancreas (Endocrine System)
             Posterior foregut-like cells ( A scalable, suspension protocol for derivation of...
     
     Blood (Hematopoietic System)
             bone marrow-derived macrophages   
     
     Testis (Reproductive System)
     
     Liver (Hepatobiliary System)

    See ROPN1L Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ROPN1L

    SOURCE GeneReport for Unigene cluster: Hs.381089
        SABiosciences Custom PCR Arrays for ROPN1L
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    In Situ
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    (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 chordates.

    Orthologs for ROPN1L gene from 5/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ropn1l1 , 5 ropporin 1-like1, 5 80.25(n)1
    79.17(a)1
      15 (12.94 cM)5
    2529671  NM_145852.21  NP_665851.21 
     314412105 
    chicken
    (Gallus gallus)
    Aves ROPN1L1 ropporin 1-like 64.44(n)
    60.95(a)
      420926  XM_419011.2  XP_419011.1 
    lizard
    (Anolis carolinensis)
    Reptilia ROPN1L6
    Uncharacterized protein
    66(a)
    1 ↔ 1
    4(66580871-66583722)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.165442 Xenopus laevis transcribed sequence with weak similarity more 72.77(n)    48057527 
    zebrafish
    (Danio rerio)
    Actinopterygii BM571248.12   -- 69.35(n)    BM571248.1 


    ENSEMBL Gene Tree for ROPN1L (if available)
    TreeFam Gene Tree for ROPN1L (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ROPN1L gene
    ROPN1B2  ROPN12  
    2 SIMAP similar genes for ROPN1L using alignment to 1 protein entry:     ROP1L_HUMAN:
    ROPN1    ROPN1B

    ROPN1L for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

    10/566 SNPs in ROPN1L are shown (see all 566)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1914330361,2
    --10444042(+) TTTCCC/TACCCG 2 -- int10--------
    rs125215461,2
    C,F,A,H--10444131(+) CTTTGA/GGGCTG 2 -- int124Minor allele frequency- G:0.48NS EA NA WA CSA 2350
    rs1829933031,2
    --10444155(+) CAACTA/GAGCTA 2 -- int10--------
    rs1143917571,2
    C,F--10444234(+) TTCTTG/ACTAAA 2 -- int11Minor allele frequency- A:0.01WA 118
    rs1869192061,2
    --10444339(+) TCTTCG/TTGGAA 2 -- int10--------
    rs1902835281,2
    C--10444594(+) GATGGA/GGTTTC 2 -- int10--------
    rs1413965081,2
    C--10444882(+) GGCACA/GCATCT 2 -- int10--------
    rs1821699161,2
    --10444937(+) AACCGA/GGAAGC 2 -- int10--------
    rs1451640441,2
    C--10444949(+) GAGGTC/TGCAGT 2 -- int10--------
    rs1149203171,2
    F--10445349(+) AAGTGG/CTGGGA 2 -- int11Minor allele frequency- C:0.03WA 118

    HapMap Linkage Disequilibrium report for ROPN1L (10441636 - 10472141 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for ROPN1L:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv329900CNV Insertion16902084
    esv1398505CNV Insertion17803354
    esv990013CNV Insertion20482838
    nsv880973CNV Gain21882294
    nsv880520CNV Gain21882294


    Human Gene Mutation Database (HGMD): ROPN1L
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 611756    OMIM disorders: --

    2 diseases for ROPN1L:    About MalaCards
    breast cancer susceptibility    breast cancer


    ROPN1L for disorders           About GeneDecksing

    Genetic Association Database (GAD): ROPN1L
    Human Genome Epidemiology (HuGE) Navigator: ROPN1L (1 document)

    Export disorders for ROPN1L 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 ROPN1L gene integrated from 9 sources:
    (articles sorted by number of sources associating them with ROPN1L)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of sperm-specific proteins that interact with A-kinase anchoring proteins in a manner similar to the type II regulatory subunit of PKA. (PubMed id 11278869)1, 2, 3 Carr D.W....Narumiya S. (2001)
    2. A novel locus for body mass index on 5p15.2: a meta-an alysis of two genome-wide association studies. (PubMed id 22446040)1, 4 Wang K.S....Callahan K. (2012)
    3. Protein kinase A RII-like (R2D2) proteins exhibit differential localization and AKAP interaction. (PubMed id 18421703)1, 9 Newell A.E....Carr D.W. (2008)
    4. Potential novel candidate polymorphisms identified in genome-wide association study for breast cancer susceptibility. (PubMed id 21424380)1 Sehrawat B....Damaraju S. (2011)
    5. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    7. The DNA sequence and comparative analysis of human chromosome 5. (PubMed id 15372022)2 Schmutz J.... Rubin E.M. (2004)
    8. Human ORFeome version 1.1: a platform for reverse proteomics. (PubMed id 15489335)1 Rual J.F....Vidal M. (2004)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    10. Identification of a murine testis complementary DNA e ncoding a homolog to human A-kinase anchoring protein-associated sperm protein. (PubMed id 12021058)9 Anway M.D....Griswold M.D. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 83853 HGNC: 24060 AceView: ROPN1L Ensembl:ENSG00000145491 euGenes: HUgn83853
    ECgene: ROPN1L H-InvDB: ROPN1L

    (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 ROPN1L Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ROPN1L Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ROPN1L gene:
    Search GeneIP for patents involving ROPN1L

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



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