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

Summary

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

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_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
Lack of ROPN1 had no effect on ciliary motility.
Title: Loss of ASP but not ROPN1 reduces mammalian ciliary motility.
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.
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.
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.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Kalirin: a novel genetic risk factor for ischemic stroke.
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.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH104134 (e-PCR)
- UniSTS:98459

D3S3558 (e-PCR), detects polymorphism
- UniSTS:19370

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 more info	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)

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

Status: REVIEWED

Source sequence(s)

AC117381
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
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
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
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

NR_133916.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC117381

Related

ENST00000479867.1
NR_133917.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC117381

Related

ENST00000459660.5
NR_133918.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC117381
NR_133919.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC117381
NR_172091.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC117381