Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	60561
Gene name	RAD50 interactor 1
Gene symbol	RINT1
Synonyms (NCBI Gene)	ILFS3RINT-1
Chromosome	7
Chromosome location	7q22.3
Summary	This gene encodes a protein first identified for its ability to interact with the RAD50 double strand break repair protein, with the resulting interaction implicated in the regulation of cell cycle progression and telomere length. The encoded protein may

Show/Hide all (6)

SNP ID	Visualize variation	Clinical significance	Consequence
rs199535472	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant, 5 prime UTR variant, non coding transcript variant, missense variant, coding sequence variant
rs375350359	G>A,T	Pathogenic, uncertain-significance	Splice donor variant
rs545894353	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs757241087	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs1554367227	TTAAAG>-	Pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, inframe deletion
rs1562849964	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant

Show/Hide all (33)

miRTarBase ID	miRNA	Experiments	Reference
MIRT052828	hsa-miR-3065-3p	CLASH	23622248
MIRT1307410	hsa-miR-3914	CLIP-seq
MIRT1307411	hsa-miR-4652-3p	CLIP-seq
MIRT2091109	hsa-miR-3675-3p	CLIP-seq
MIRT2091110	hsa-miR-421	CLIP-seq
MIRT2091111	hsa-miR-4310	CLIP-seq
MIRT2091112	hsa-miR-4709-5p	CLIP-seq
MIRT2091113	hsa-miR-4760-3p	CLIP-seq
MIRT2091114	hsa-miR-510	CLIP-seq
MIRT2091115	hsa-miR-512-5p	CLIP-seq
MIRT2091116	hsa-miR-767-3p	CLIP-seq
MIRT2091111	hsa-miR-4310	CLIP-seq
MIRT2315869	hsa-miR-4729	CLIP-seq
MIRT2091114	hsa-miR-510	CLIP-seq
MIRT2091115	hsa-miR-512-5p	CLIP-seq
MIRT2611894	hsa-miR-3121-3p	CLIP-seq
MIRT2611895	hsa-miR-3605-5p	CLIP-seq
MIRT1307410	hsa-miR-3914	CLIP-seq
MIRT2611896	hsa-miR-4289	CLIP-seq
MIRT2091111	hsa-miR-4310	CLIP-seq
MIRT1307411	hsa-miR-4652-3p	CLIP-seq
MIRT2315869	hsa-miR-4729	CLIP-seq
MIRT2091114	hsa-miR-510	CLIP-seq
MIRT2091115	hsa-miR-512-5p	CLIP-seq
MIRT2611894	hsa-miR-3121-3p	CLIP-seq
MIRT2611895	hsa-miR-3605-5p	CLIP-seq
MIRT1307410	hsa-miR-3914	CLIP-seq
MIRT2611896	hsa-miR-4289	CLIP-seq
MIRT2091111	hsa-miR-4310	CLIP-seq
MIRT1307411	hsa-miR-4652-3p	CLIP-seq
MIRT2315869	hsa-miR-4729	CLIP-seq
MIRT2091114	hsa-miR-510	CLIP-seq
MIRT2091115	hsa-miR-512-5p	CLIP-seq

Show/Hide all (20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	11096100, 15029241, 15272311, 15824131, 16571679, 20462495, 24056303, 25416956, 26871637, 27107012, 28514442, 31515488, 32296183, 32814053, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA	15029241
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006888	Process	Endoplasmic reticulum to Golgi vesicle-mediated transport	IEA
GO:0006890	Process	Retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	IBA
GO:0006890	Process	Retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	IEA
GO:0006890	Process	Retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	NAS	15029241
GO:0007095	Process	Mitotic G2 DNA damage checkpoint signaling	IMP	11096100
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016192	Process	Vesicle-mediated transport	IEA
GO:0060628	Process	Regulation of ER to Golgi vesicle-mediated transport	IBA
GO:0060628	Process	Regulation of ER to Golgi vesicle-mediated transport	IMP	16571679
GO:0070939	Component	Dsl1/NZR complex	IBA
GO:0070939	Component	Dsl1/NZR complex	IDA	20462495
GO:0070939	Component	Dsl1/NZR complex	IEA
GO:0070939	Component	Dsl1/NZR complex	IPI	20462495

MIM	HGNC	e!Ensembl
610089	21876	ENSG00000135249

Q6NUQ1

Protein name

RAD50-interacting protein 1 (RAD50 interactor 1) (HsRINT-1) (RINT-1)

Protein function

Involved in regulation of membrane traffic between the Golgi and the endoplasmic reticulum (ER); the function is proposed to depend on its association in the NRZ complex which is believed to play a role in SNARE assembly at the ER. May play a ro

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04437	RINT1_TIP1	304 → 784	RINT-1 / TIP-1 family	Family

Sequence

MLPAGEIGASPAAPCCSESGDERKNLEEKSDINVTVLIGSKQVSEGTDNGDLPSYVSAFI
EKEVGNDLKSLKKLDKLIEQRTVSKMQLEEQVLTISSEIPKRIRSALKNAEESKQFLNQF
LEQETHLFSAINSHLLTAQPWMDDLGTMISQIEEIERHLAYLKWISQIEELSDNIQQYLM
TNNVPEAASTLVSMAELDIKLQESSCTHLLGFMRATVKFWHKILKDKLTSDFEEILAQLH
WPFIAPPQSQTVGLSRPASAPEIYSYLETLFCQLLKLQTSDELLTEPKQLPEKYSLPASP
SVILPIQVMLTPLQKRFRYHFRGNRQTNVLSKPEWYLAQVLMWIGNHTEFLDEKIQPILD
KVGSLVNARLEFSRGLMMLVLEKLATDIPCLLYDDNLFCHLVDEVLLFERELHSVHGYPG
TFASCMHILSEETCFQRWLTVERKFALQKMDSMLSSEAAWVSQYKDITDVDEMKVPDCAE
TFMTLLLVITDRYKNLPTASRKLQFLELQKDLVDDFRIRLTQVMKEETRASLGFRYCAIL
NAVNYISTVLADWADNVFFLQLQQAALEVFAENNTLSKLQLGQLASMESSVFDDMINLLE
RLKHDMLTRQVDHVFREVKDAAKLYKKERWLSLPSQSEQAVMSLSSSACPLLLTLRDHLL
QLEQQLCFSLFKIFWQMLVEKLDVYIYQEIILANHFNEGGAAQLQFDMTRNLFPLFSHYC
KRPENYFKHIKEACIVLNLNVGSALLLKDVLQSASGQLPATAALNEVGIYKLAQQDVEIL
LNLRTNWPNTGK

Sequence length

792

Interactions

View interactions

	Reactome
			COPI-dependent Golgi-to-ER retrograde traffic

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)

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Fulminant hepatic failure	Pathogenic	rs1562849964	RCV000785778	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Infantile liver failure syndrome 3	Pathogenic	rs1562849964, rs375350359	RCV000853565 RCV000853566	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RINT1-related disorder	Pathogenic	rs1423003209	RCV003336835	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs200989342	RCV002273829	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial ovarian cancer	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY BREAST CARCINOMA	—	ClinGen	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary breast ovarian cancer syndrome	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer-predisposing syndrome	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (25)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Ataxia	Ataxia	Pubtator	37463447	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Cancer, Familial	Breast Cancer	CLINGEN_DG	11096100, 17470549, 25050558, 26383973, 27544226		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	25002613, 25050558, 27544226		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25050558, 26787654, 30947698	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28264000		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	37463447	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	25304616	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	23074196		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	23074196		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	25304616	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	33099839	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	BEFREE	25002613, 25050558, 27544226, 28264000		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	30480765	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	31204009	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure Acute	Liver failure	Pubtator	31204009, 37463447	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	BEFREE	31204009		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lynch Syndrome	Lynch Syndrome	BEFREE	25002613, 25050558, 27544226, 28264000		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	25002613, 25050558, 27544226		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25002613, 25050558, 28031358, 28264000		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple System Atrophy	Multiple system atrophy	Pubtator	31204009	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17470549, 19603527, 28264000		★★★★★ ★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	Pubtator	37463447	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pfaundler-Hurler Syndrome	Pfaundler-Hurler Syndrome	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	25304616	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

RINT1 (RAD50 interactor 1)