RINT1
entrez
60561
canonical
uniprot
Q6NUQ1
canonical
ensembl
ENSG00000135249
resolver
ensp
ENSP00000257700
resolver
enst
ENST00000257700
resolver
genesymbol
RINT1
resolver
hgnc
HGNC:21876
resolver
uniprot
Q75MG9
resolver
uniprot
Q75MH0
resolver
uniprot
Q96IW8
resolver
uniprot
Q9H229
resolver
uniprot
Q9HAD9
resolver
uniprot_entry
RINT1_HUMAN
resolver
uniprot_sec
Q75MG9
resolver
uniprot_sec
Q75MH0
resolver
uniprot_sec
Q96IW8
resolver
uniprot_sec
Q9H229
resolver
uniprot_sec
Q9HAD9
resolver
amino_acid_sequence
MLPAGEIGASPAAPCCSESGDERKNLEEKSDINVTVLIGSKQVSEGTDNGDLPSYVSAFIEKEVGNDLKSLKKLDKLIEQRTVSKMQLEEQVLTISSEIPKRIRSALKNAEESKQFLNQFLEQETHLFSAINSHLLTAQPWMDDLGTMISQIEEIERHLAYLKWISQIEELSDNIQQYLMTNNVPEAASTLVSMAELDIKLQESSCTHLLGFMRATVKFWHKILKDKLTSDFEEILAQLHWPFIAPPQSQTVGLSRPASAPEIYSYLETLFCQLLKLQTSDELLTEPKQLPEKYSLPASPSVILPIQVMLTPLQKRFRYHFRGNRQTNVLSKPEWYLAQVLMWIGNHTEFLDEKIQPILDKVGSLVNARLEFSRGLMMLVLEKLATDIPCLLYDDNLFCHLVDEVLLFERELHSVHGYPGTFASCMHILSEETCFQRWLTVERKFALQKMDSMLSSEAAWVSQYKDITDVDEMKVPDCAETFMTLLLVITDRYKNLPTASRKLQFLELQKDLVDDFRIRLTQVMKEETRASLGFRYCAILNAVNYISTVLADWADNVFFLQLQQAALEVFAENNTLSKLQLGQLASMESSVFDDMINLLERLKHDMLTRQVDHVFREVKDAAKLYKKERWLSLPSQSEQAVMSLSSSACPLLLTLRDHLLQLEQQLCFSLFKIFWQMLVEKLDVYIYQEIILANHFNEGGAAQLQFDMTRNLFPLFSHYCKRPENYFKHIKEACIVLNLNVGSALLLKDVLQSASGQLPATAALNEVGIYKLAQQDVEILLNLRTNWPNTGK
uniprot
proteins
disease_involvement
DISEASE: Infantile liver failure syndrome 3 (ILFS3) [MIM:618641]: A form of infantile liver failure syndrome, a life-threatening disorder of hepatic function that manifests with acute liver failure in the first months or years of life. ILFS3 is an autosomal recessive form characterized by recurrent episodes of acute liver failure often triggered by infection or fever. Affected individuals also have skeletal anomalies of the vertebral bodies and femoral heads. {ECO:0000269|PubMed:31204009}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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 role in cell cycle checkpoint control (PubMed:11096100). Essential for telomere length control (PubMed:16600870). {ECO:0000269|PubMed:11096100, ECO:0000269|PubMed:16600870, ECO:0000305}.
uniprot
proteins
mass_dalton
90632
uniprot
proteins
protein_family
RINT1 family
uniprot
proteins
pubmed
11096100
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15029241
uniprot
proteins
pubmed
15272311
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16600870
uniprot
proteins
pubmed
19369418
uniprot
proteins
pubmed
20462495
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24056303
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
31204009
uniprot
proteins
sequence_length
792
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm. Endoplasmic reticulum membrane; Peripheral membrane protein.
uniprot
proteins