ROPN1L (rhophilin associated tail protein 1 like)

Gene

• Entrez ID: 83853
• Gene name: Rhophilin associated tail protein 1 like
• Gene symbol: ROPN1L
• Synonyms (NCBI Gene): ASP, LINC01513, RSPH11, TCONS_00009352
• Chromosome: 5
• Chromosome location: 5p15.2
• 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 t

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019427	hsa-miR-148b-3p	Microarray	17612493
MIRT022026	hsa-miR-128-3p	Microarray	17612493
MIRT024745	hsa-miR-215-5p	Microarray	19074876
MIRT025138	hsa-miR-181a-5p	Microarray	17612493
MIRT026855	hsa-miR-192-5p	Microarray	19074876

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001534	Component	Radial spoke	IEA
GO:0001534	Component	Radial spoke	ISS
GO:0003341	Process	Cilium movement	IEA
GO:0003351	Process	Epithelial cilium movement involved in extracellular fluid movement	IC	18421703
GO:0005515	Function	Protein binding	IPI	18421703, 25416956, 28514442, 31515488, 32296183, 33961781
GO:0005576	Component	Extracellular region	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	18421703
GO:0005929	Component	Cilium	IDA	27120127
GO:0005929	Component	Cilium	IEA
GO:0030317	Process	Flagellated sperm motility	IEA
GO:0030317	Process	Flagellated sperm motility	ISS
GO:0031514	Component	Motile cilium	IDA	18421703
GO:0031514	Component	Motile cilium	IEA
GO:0042802	Function	Identical protein binding	IPI	32296183
GO:0042995	Component	Cell projection	IEA
GO:0048240	Process	Sperm capacitation	IEA
GO:0048240	Process	Sperm capacitation	ISS

Other IDs

• MIM: 611756
• HGNC: 24060
• e!Ensembl: ENSG00000145491

Protein

• UniProt ID: Q96C74
• Protein name: Ropporin-1-like protein (ROPN1-like protein) (AKAP-associated sperm protein)
• Protein function: Functions as part of axonemal radial spoke complexes that play an important part in the motility of sperm and cilia. Important for male fertility. With ROPN1, involved in fibrous sheath integrity and sperm motility, plays a role in PKA-dependent
• PDB: 8J07
• Sequence:

  MPLPDTMFCAQQIHIPPELPDILKQFTKAAIRTQPADVLRWSAGYFSALSRGDPLPVKDR
  MEMPTATQKTDTGLTQGLLKVLHKQCHHKRYVELTDLEQKWKNLCLPKEKFKALLQLDPC
  ENKIKWINFLALGCSMLGGSLNTALKHLCEILTDDPEGGPARIPFKTFSYVYRYLARLDS
  DVSPLETESYLASLKENIDARKNGMIGLSDFFFPKRKLLESIENSEDVGH

• Sequence length: 230

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANKYLOSING SPONDYLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATOMYOSITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE DERMATOMYOSITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Arrest of spermatogenesis	Associate	35173218	★☆☆☆☆ Found in Text Mining only
Azoospermia	Associate	35173218	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Associate	21424380, 22452962	★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Associate	38027210	★☆☆☆☆ Found in Text Mining only
Infertility Male	Associate	35173218	★☆☆☆☆ Found in Text Mining only