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    ROPN1 rhophilin associated tail protein 1 [ Homo sapiens (human) ]

    Gene ID: 54763, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ROPN1provided by HGNC
    Official Full Name
    rhophilin associated tail protein 1provided by HGNC
    Primary source
    HGNC:HGNC:17692
    See related
    Ensembl:ENSG00000065371 MIM:611757; AllianceGenome:HGNC:17692
    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
    CT91; ODF6; ROPN1A; RHPNAP1; ropporin
    Summary
    The protein encoded by this gene is found in the fibrous sheath of spermatazoa, where it interacts with rhophilin, a Rho GTPase binding protein. The encoded protein also can bind an A-kinase anchoring protein (AKAP110) and a calcium-binding tyrosine phosphorylation-regulated protein (CABYR). This protein may be involved in sperm motility and has been shown to be a cancer-testis antigen in hematologic malignancies. Several transcript variants, some protein-coding and some non-protein coding, have been found for this gene. [provided by RefSeq, Dec 2015]
    Expression
    Restricted expression toward testis (RPKM 42.1) See more
    Orthologs
    mouse all
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    Genomic context

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    See ROPN1 in Genome Data Viewer
    Location:
    3q21.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (123969015..123992124, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (126695142..126718256, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (123687862..123710971, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene myosin light chain kinase Neighboring gene small nucleolar RNA SNORA5 Neighboring gene MPRA-validated peak4802 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14650 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:123680084-123680394 Neighboring gene coiled-coil domain containing 14 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:123699087-123699586 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:123710743-123711259 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14651 Neighboring gene kalirin RhoGEF kinase Neighboring gene microRNA 5002 Neighboring gene ribosomal protein L7 pseudogene 15

    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 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. Rhophilin-associated tail protein 1 promotes migration and metastasis in triple negative breast cancer via activation of RhoA. Liu Q, et al. FASEB J, 2020 Aug. PMID 32427399
    2. Functional expression of ropporin in human testis and ejaculated spermatozoa. Chen J, et al. J Androl, 2011 Jan-Feb. PMID 20705794
    3. Cancer testis antigen, ropporin, is a potential target for multiple myeloma immunotherapy. Chiriva-Internati M, et al. J Immunother, 2011 Jul-Aug. PMID 21654522
    4. Ropporin gene expression in infertile asthenozoospermic men with varicocele before and after repair. Amer MK, et al. Urology, 2015 Apr. PMID 25704993
    5. Molecular study of human sperm RNA: Ropporin and CABYR in asthenozoospermia. Pelloni M, et al. J Endocrinol Invest, 2018 Jul. PMID 29247344

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Rhophilin-associated tail protein 1 promotes migration and metastasis in triple negative breast cancer via activation of RhoA.
      Title: Rhophilin-associated tail protein 1 promotes migration and metastasis in triple negative breast cancer via activation of RhoA.
    2. There is downregulation of both ROPN1 and CABYR in asthenozoospermic samples and importantly, a positive correlation between the expression of the two genes, suggesting that ROPN1 and CABYR co-expression is a prerequisite for normal flagellar function and sperm motility.
      Title: Molecular study of human sperm RNA: Ropporin and CABYR in asthenozoospermia.
    3. Ropporin gene expression is related to the sperm motility. Its abnormal expression in the sperm of asthenozoospermic men with varicocele is associated with impaired sperm motility that is improved after varicocelectomy.
      Title: Ropporin gene expression in infertile asthenozoospermic men with varicocele before and after repair.
    4. Lack of ROPN1 had no effect on ciliary motility.
      Title: Loss of ASP but not ROPN1 reduces mammalian ciliary motility.
    5. We suggest that ropporin is a promising target for MM immunotherapy, as we were able to generate human leukocyte antigen class I-restricted cytotoxic lymphocytes able to kill autologous MM cells.
      Title: Cancer testis antigen, ropporin, is a potential target for multiple myeloma immunotherapy.
    6. CABYR variants form a complex not only with the scaffolding protein AKAP3 but also with another RII-like domain-containing protein in the sperm fibrous sheath.
      Title: CABYR binds to AKAP3 and Ropporin in the human sperm fibrous sheath.
    7. ropporin was predominantly expressed in round spermatids in human testis, and located in the principal piece and end piece of spermatozoa flagella. Expression level of ropporin was significantly lower in asthenozoospermic men than in normozoospermic men.
      Title: Functional expression of ropporin in human testis and ejaculated spermatozoa.
    8. One SNP (rs4499545) in the ROPN1-KALRN intergenic region showed significant allelic and genotypic association with ischemic stroke risk.
      Title: Kalirin: a novel genetic risk factor for ischemic stroke.
    9. Observational study of gene-disease association. (HuGE Navigator)
      Title: Kalirin: a novel genetic risk factor for ischemic stroke.
    10. Ropporin gene expression in tumor cells is associated with the presence of high titer IgG antibodies against Ropporin, suggesting the in vivo translation of the mRNA into protein and the immunogenicity of the protein to the autologous hosts.
      Title: A yeast two-hybrid system using Sp17 identified Ropporin as a novel cancer-testis antigen in hematologic malignancies.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp434B1222

    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 cilium organization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in flagellated sperm motility ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein localization to cilium 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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in sperm capacitation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in motile cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus HDA PubMed 

    General protein information

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    Preferred Names
    ropporin-1A
    Names
    cancer/testis antigen 91
    outer dense fiber of sperm tails 6
    rhophilin-associated protein 1A
    ropporin, rhophilin associated protein 1
    testis secretory sperm-binding protein Li 239w

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001317774.2 → NP_001304703.1  ropporin-1A isoform a

      Status: REVIEWED

      Source sequence(s)
      AC117381
      Consensus CDS
      CCDS3026.1
      UniProtKB/Swiss-Prot
      D3DN99, Q9HAT0, Q9UF38
      UniProtKB/TrEMBL
      A0A140VKB2
      Related
      ENSP00000385919.3, ENST00000405845.8
      Conserved Domains (1) summary
      cl02594
      Location:10 → 46
      DD_R_PKA; Dimerization/Docking domain of the Regulatory subunit of cAMP-dependent protein kinase and similar domains

    2. NM_001317775.2 → NP_001304704.1  ropporin-1A isoform b

      Status: REVIEWED

      Source sequence(s)
      AC117381

    3. NM_001394217.1 → NP_001381146.1  ropporin-1A isoform a

      Status: REVIEWED

      Source sequence(s)
      AC117381
      Consensus CDS
      CCDS3026.1
      UniProtKB/Swiss-Prot
      D3DN99, Q9HAT0, Q9UF38
      UniProtKB/TrEMBL
      A0A140VKB2
      Conserved Domains (1) summary
      cl02594
      Location:10 → 46
      DD_R_PKA; Dimerization/Docking domain of the Regulatory subunit of cAMP-dependent protein kinase and similar domains

    4. NM_001394218.1 → NP_001381147.1  ropporin-1A isoform a

      Status: REVIEWED

      Source sequence(s)
      AC117381
      Consensus CDS
      CCDS3026.1
      UniProtKB/Swiss-Prot
      D3DN99, Q9HAT0, Q9UF38
      UniProtKB/TrEMBL
      A0A140VKB2
      Conserved Domains (1) summary
      cl02594
      Location:10 → 46
      DD_R_PKA; Dimerization/Docking domain of the Regulatory subunit of cAMP-dependent protein kinase and similar domains

    5. NM_001394219.1 → NP_001381148.1  ropporin-1A isoform a

      Status: REVIEWED

      Source sequence(s)
      AC117381
      Consensus CDS
      CCDS3026.1
      UniProtKB/Swiss-Prot
      D3DN99, Q9HAT0, Q9UF38
      UniProtKB/TrEMBL
      A0A140VKB2
      Conserved Domains (1) summary
      cl02594
      Location:10 → 46
      DD_R_PKA; Dimerization/Docking domain of the Regulatory subunit of cAMP-dependent protein kinase and similar domains

    6. NM_017578.5 → NP_060048.2  ropporin-1A isoform a

      See identical proteins and their annotated locations for NP_060048.2

      Status: REVIEWED

      Source sequence(s)
      AC117381
      Consensus CDS
      CCDS3026.1
      UniProtKB/Swiss-Prot
      D3DN99, Q9HAT0, Q9UF38
      UniProtKB/TrEMBL
      A0A140VKB2
      Related
      ENSP00000184183.4, ENST00000184183.8
      Conserved Domains (1) summary
      cl02594
      Location:10 → 46
      DD_R_PKA; Dimerization/Docking domain of the Regulatory subunit of cAMP-dependent protein kinase and similar domains

    RNA

    1. NR_133916.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC117381
      Related
      ENST00000479867.1

    2. NR_133917.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC117381
      Related
      ENST00000459660.5

    3. NR_133918.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC117381

    4. NR_133919.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC117381

    5. NR_172091.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC117381

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      123969015..123992124 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047448370.1 → XP_047304326.1  ropporin-1A isoform X1

      UniProtKB/Swiss-Prot
      D3DN99, Q9HAT0, Q9UF38
      UniProtKB/TrEMBL
      A0A140VKB2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      126695142..126718256 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054346959.1 → XP_054202934.1  ropporin-1A isoform X1

      UniProtKB/Swiss-Prot
      D3DN99, Q9HAT0, Q9UF38
      UniProtKB/TrEMBL
      A0A140VKB2
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9HAT0.2 GenPept UniProtKB/Swiss-Prot:Q9HAT0

    Gene LinkOut

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

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