RINT1
RAD50-interacting protein 1
Also known as: FLJ11785, RINT-1, RINT1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q6NUQ1
- Gene
- RINT1
- Ensembl
- ENSG00000135249
- Chromosome
- 7
- Canonical length
- 792 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Golgi apparatus
OverviewNCBI 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 also play a role in trafficking of cellular cargo from the endosome to the trans-Golgi network. Mutations in this gene may be associated with breast cancer in human patients. [provided by RefSeq, Oct 2016]
Canonical amino-acid sequenceUniProt
792 residues, UniProt reviewed canonical sequence.
>Q6NUQ1|RINT1
1 MLPAGEIGAS PAAPCCSESG DERKNLEEKS DINVTVLIGS KQVSEGTDNG DLPSYVSAFI
61 EKEVGNDLKS LKKLDKLIEQ RTVSKMQLEE QVLTISSEIP KRIRSALKNA EESKQFLNQF
121 LEQETHLFSA INSHLLTAQP WMDDLGTMIS QIEEIERHLA YLKWISQIEE LSDNIQQYLM
181 TNNVPEAAST LVSMAELDIK LQESSCTHLL GFMRATVKFW HKILKDKLTS DFEEILAQLH
241 WPFIAPPQSQ TVGLSRPASA PEIYSYLETL FCQLLKLQTS DELLTEPKQL PEKYSLPASP
301 SVILPIQVML TPLQKRFRYH FRGNRQTNVL SKPEWYLAQV LMWIGNHTEF LDEKIQPILD
361 KVGSLVNARL EFSRGLMMLV LEKLATDIPC LLYDDNLFCH LVDEVLLFER ELHSVHGYPG
421 TFASCMHILS EETCFQRWLT VERKFALQKM DSMLSSEAAW VSQYKDITDV DEMKVPDCAE
481 TFMTLLLVIT DRYKNLPTAS RKLQFLELQK DLVDDFRIRL TQVMKEETRA SLGFRYCAIL
541 NAVNYISTVL ADWADNVFFL QLQQAALEVF AENNTLSKLQ LGQLASMESS VFDDMINLLE
601 RLKHDMLTRQ VDHVFREVKD AAKLYKKERW LSLPSQSEQA VMSLSSSACP LLLTLRDHLL
661 QLEQQLCFSL FKIFWQMLVE KLDVYIYQEI ILANHFNEGG AAQLQFDMTR NLFPLFSHYC
721 KRPENYFKHI KEACIVLNLN VGSALLLKDV LQSASGQLPA TAALNEVGIY KLAQQDVEIL
781 LNLRTNWPNT GKLocalizationUniProt · AlphaFold · HPA
Whether an antibody against RINT1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.32
- Highest tissue expression
- 16 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 16 nTPM
- bone marrow: 14 nTPM
- tonsil: 13 nTPM
- lymph node: 13 nTPM
- tongue: 12 nTPM
- pancreas: 11 nTPM
Single-cell type
- myonuclei: 60 nCPM
- plasma cells: 53 nCPM
- thymocytes: 46 nCPM
- erythrocyte progenitors: 42 nCPM
- pancreatic acinar cells: 42 nCPM
- esophageal apical cells: 42 nCPM
Immune cell
- MAIT T-cell: 12 nTPM
- T-reg: 11 nTPM
- memory CD4 T-cell: 9.8 nTPM
- naive CD8 T-cell: 9.4 nTPM
- memory CD8 T-cell: 9.2 nTPM
- NK-cell: 9.1 nTPM
Brain region
- cerebellum: 19 nTPM
- choroid plexus: 16 nTPM
- white matter: 13 nTPM
- cerebral cortex: 12 nTPM
- hypothalamus: 11 nTPM
- spinal cord: 11 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about RINT1.
Disease | AllUniProt
Conditions RINT1 is implicated in, by any mechanism.
- Infantile liver failure syndrome 3 (ILFS3) MIM:618641
Disease | GeneticClinVar
43 pathogenic / likely-pathogenic of 1,818 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Infantile liver failure syndrome 3
- Fulminant hepatic failure
- Thyroid cancer, nonmedullary, 1
- RINT1-related disorder
Disease | ImmuneIEDB
Conditions an epitope on RINT1 was assayed in.
- skin melanoma T cell
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.83
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.83
- DepMap mean gene effect
- -1.07
- DepMap dependency class
- common
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 12% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- endoplasmic reticulum to Golgi vesicle-mediated transport
- mitotic G2 DNA damage checkpoint signaling
- protein transport
- regulation of ER to Golgi vesicle-mediated transport
- retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum
Cellular components
Protein domainsUniProt · Pfam · InterPro
- EXOC6/PINT-1/Sec15/Tip20, C-terminal, domain 2
- RINT-1/Tip20
- RINT-1/TIP-1 family
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of RINT1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads RINT1 as an antibody target. Whether an autoantibody or antibody against RINT1 could matter depends on whether native RINT1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
RINT1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label RINT1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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