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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
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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

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