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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	60561
Gene name Gene Name - the full gene name approved by the HGNC.	RAD50 interactor 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	RINT1
Synonyms (NCBI Gene) Gene synonyms aliases	ILFS3, RINT-1
Chromosome Chromosome number	7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	7q22.3
Summary Summary of gene provided in NCBI Entrez Gene.	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

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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

Protein

UniProt ID

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

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Liver failure	Infantile liver failure syndrome 3	rs375350359, rs1562849964	N/A
Thyroid cancer	thyroid cancer, nonmedullary, 1	rs200989342	N/A

Show/Hide Unknown Diseases (3)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Breast Cancer	breast cancer	N/A	N/A	GenCC
Breast Carcinoma	hereditary breast carcinoma	N/A	N/A	GenCC
Ovarian cancer	familial ovarian cancer, Familial ovarian cancer	N/A	N/A	GenCC, ClinVar

Show/Hide Text Mining Associations (17)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Ataxia	Associate	37463447
Breast Neoplasms	Associate	25050558, 26787654, 30947698
Congenital Abnormalities	Associate	37463447
Epilepsy	Associate	25304616
Glioma	Associate	25304616
Hereditary Breast and Ovarian Cancer Syndrome	Associate	33099839
Hereditary leiomyomatosis and renal cell cancer	Associate	19603527
Leukemia Myeloid Acute	Associate	30480765
Liver Diseases	Associate	31204009
Liver Failure Acute	Associate	31204009, 37463447
Multiple System Atrophy	Associate	31204009
Musculoskeletal Abnormalities	Associate	31204009
Neoplasms	Inhibit	19603527
Neoplasms	Associate	25050558
Optic Nerve Hypoplasia	Associate	37463447
Paraplegia	Associate	37463447
Seizures	Associate	25304616

RINT1 (RAD50 interactor 1)