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

Gene ID: 54763, updated on 27-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
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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
  • 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)

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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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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