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    ROPN1L rhophilin associated tail protein 1 like [ Homo sapiens (human) ]

    Gene ID: 83853, updated on 5-Mar-2024

    Summary

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    Official Symbol
    ROPN1Lprovided by HGNC
    Official Full Name
    rhophilin associated tail protein 1 likeprovided by HGNC
    Primary source
    HGNC:HGNC:24060
    See related
    Ensembl:ENSG00000145491 MIM:611756; AllianceGenome:HGNC:24060
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ASP; RSPH11; LINC01513; TCONS_00009352
    Summary
    This gene encodes a member of the ropporin family. The encoded protein is present in sperm and interacts with A-kinase anchoring protein, AKAP3, through the amphipathic helix region of AKAP3. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2014]
    Expression
    Restricted expression toward testis (RPKM 83.7) See more
    Orthologs
    mouse all
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    Genomic context

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    See ROPN1L in Genome Data Viewer
    Location:
    5p15.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (10441879..10482807)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (10381014..10421974)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (10441991..10465138)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene membrane associated ring-CH-type finger 6 Neighboring gene microRNA 10397 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:10420944-10422143 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15921 Neighboring gene ROPN1L antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:10457805-10458664 Neighboring gene uncharacterized LOC124900940 Neighboring gene Sharpr-MPRA regulatory regions 9329 and 12995 Neighboring gene microRNA 6131 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22355 Neighboring gene ribosomal protein L30 pseudogene 7 Neighboring gene long intergenic non-protein coding RNA 2212

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Sperm protein 17 and AKAP-associated sperm protein cancer/testis antigens are expressed in ciliated hepatic foregut cysts. Grizzi F, et al. Histopathology, 2015 Sep. PMID 25600306
    2. A novel locus for body mass index on 5p15.2: a meta-analysis of two genome-wide association studies. Wang KS, et al. Gene, 2012 May 25. PMID 22446040
    3. Potential novel candidate polymorphisms identified in genome-wide association study for breast cancer susceptibility. Sehrawat B, et al. Hum Genet, 2011 Oct. PMID 21424380, Free PMC Article
    4. Long noncoding RNA expression profiles of lung adenocarcinoma ascertained by microarray analysis. Xu G, et al. PLoS One, 2014. PMID 25089627, Free PMC Article
    5. Protein kinase A RII-like (R2D2) proteins exhibit differential localization and AKAP interaction. Newell AE, et al. Cell Motil Cytoskeleton, 2008 Jul. PMID 18421703

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A novel locus for body mass index on 5p15.2: a meta-analysis of two genome-wide association studies.
    EBI GWAS Catalog
    Potential novel candidate polymorphisms identified in genome-wide association study for breast cancer susceptibility.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ23003, FLJ25776

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in epithelial cilium movement involved in extracellular fluid movement IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in flagellated sperm motility ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of protein phosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in sperm capacitation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in cilium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in motile cilium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of radial spoke ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    ropporin-1-like protein
    Names
    AKAP-associated sperm protein
    ROPN1-like protein
    long intergenic non-protein coding RNA 1513
    radial spoke head 11 homolog

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001201466.2 → NP_001188395.1  ropporin-1-like protein

      See identical proteins and their annotated locations for NP_001188395.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks a segment in the 5' UTR and encodes the same protein, as compared to variant 1.
      Source sequence(s)
      AF239723, BX113042, CV024170, DB479784
      Consensus CDS
      CCDS3879.1
      UniProtKB/Swiss-Prot
      D3DTC9, Q96C74, Q9BZX0
      Related
      ENSP00000421405.1, ENST00000503804.5
      Conserved Domains (1) summary
      cl02594
      Location:15 → 51
      DD_R_PKA; Dimerization/Docking domain of the Regulatory subunit of cAMP-dependent protein kinase and similar domains

    2. NM_031916.5 → NP_114122.2  ropporin-1-like protein

      See identical proteins and their annotated locations for NP_114122.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) and variant 2 encode the same protein.
      Source sequence(s)
      AC092336, AK098642, BC014607
      Consensus CDS
      CCDS3879.1
      UniProtKB/Swiss-Prot
      D3DTC9, Q96C74, Q9BZX0
      Related
      ENSP00000274134.4, ENST00000274134.5
      Conserved Domains (1) summary
      cl02594
      Location:15 → 51
      DD_R_PKA; Dimerization/Docking domain of the Regulatory subunit of cAMP-dependent protein kinase and similar domains

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      10441879..10482807
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017009947.3 → XP_016865436.1  ropporin-1-like protein isoform X3

    2. XM_006714504.4 → XP_006714567.1  ropporin-1-like protein isoform X1

      See identical proteins and their annotated locations for XP_006714567.1

      Conserved Domains (1) summary
      cl02594
      Location:15 → 51
      DD_R_PKA; Dimerization/Docking domain of the Regulatory subunit of cAMP-dependent protein kinase and similar domains

    3. XM_047417808.1 → XP_047273764.1  ropporin-1-like protein isoform X2

    4. XM_017009946.3 → XP_016865435.1  ropporin-1-like protein isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      10381014..10421974
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054353630.1 → XP_054209605.1  ropporin-1-like protein isoform X3

    2. XM_054353626.1 → XP_054209601.1  ropporin-1-like protein isoform X1

    3. XM_054353627.1 → XP_054209602.1  ropporin-1-like protein isoform X1

    4. XM_054353629.1 → XP_054209604.1  ropporin-1-like protein isoform X2

    5. XM_054353628.1 → XP_054209603.1  ropporin-1-like protein isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96C74.2 GenPept UniProtKB/Swiss-Prot:Q96C74

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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