Gene Gene information from NCBI Gene database.
Entrez ID 2794
Gene name G protein nucleolar 1 (putative)
Gene symbol GNL1
Synonyms (NCBI Gene)
HSR1
Chromosome 6
Chromosome location 6p21.33
Summary The GNL1 gene, identified in the human major histocompatibility complex class I region, shows a high degree of similarity with its mouse counterpart. The GNL1 gene is located less than 2 kb centromeric to HLA-E, in the same transcriptional orientation. GN
miRNA miRNA information provided by mirtarbase database.
596
miRTarBase ID miRNA Experiments Reference
MIRT047182 hsa-miR-182-5p CLASH 23622248
MIRT041886 hsa-miR-484 CLASH 23622248
MIRT610365 hsa-miR-1255b-2-3p HITS-CLIP 23824327
MIRT610364 hsa-miR-890 HITS-CLIP 23824327
MIRT610363 hsa-miR-196a-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0002456 Process T cell mediated immunity NAS 8180467
GO:0003924 Function GTPase activity IBA
GO:0003924 Function GTPase activity IEA
GO:0005198 Function Structural molecule activity NAS 8180467
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
143024 4413 ENSG00000204590
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P36915
Protein name Guanine nucleotide-binding protein-like 1 (GTP-binding protein HSR1)
Protein function Possible regulatory or functional link with the histocompatibility cluster.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01926 MMR_HSR1 362 461 50S ribosome-binding GTPase Family
Sequence
MPRKKPFSVKQKKKQLQDKRERKRGLQDGLRSSSNSRSGSRERREEQTDTSDGESVTHHI
RRLNQQPSQGLGPRGYDPNRYRLHFERDSREEVERRKRAAREQVLQPVSAELLELDIREV
YQPGSVLDFPRRPPWSYEMSKEQLMSQEERSFQDYLGKIHGAYSSEKLSYFEHNLETWRQ
LWRVLEMSDIVLLITDIRHPVVNFPPALYEYVTGELGLALVLVLNKVDLAPPALVVAWKH
YFHQHYPQLHVVLFTSFPRDPRTPQDPSSVLKKSRRRGRGWTRALGPEQLLRACEAITVG
KVDLSSWREKIARDVAGATWGNGSGEEEEEEDGPAVLVEQQTDSAMEPTGPTQERYKDGV
VTIGCVGFPNVGKSSLINGLVGRKVVSVSRTPGHTRYFQTYFLTPSVKLCDCPGLIFPSL
LPRQLQVLAGIYPIAQIQEPYTAVGYLASRIPVQALLHLRH
PEAEDPSAEHPWCAWDICE
AWAEKRGYKTAKAARNDVYRAANSLLRLAVDGRLSLCFHPPGYSEQKGTWESHPETTELV
VLQGRVGPAGDEEEEEEEELSSSCEEEGEEDRDADEEGEGDEETPTSAPGSSLAGRNPYA
LLGEDEC
Sequence length 607
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
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)
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.
Phenotype Name Clinical Significance Source Evidence Score
DENTAL CARIES GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LUNG CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Breast Neoplasms Breast neoplasm Pubtator 33147101 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 33147101 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 33147101 Associate
★☆☆☆☆
Found in Text Mining only
Graves Disease Graves Disease BEFREE 24908204
★☆☆☆☆
Found in Text Mining only
Major Depressive Disorder Mental Depression GWASCAT_DG 27479909
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of stomach Stomach Neoplasms BEFREE 30061673
★☆☆☆☆
Found in Text Mining only
Ovarian Neoplasms Ovarian neoplasm Pubtator 28629911 Associate
★☆☆☆☆
Found in Text Mining only
Parkinson Disease Parkinson disease Pubtator 33305682 Associate
★☆☆☆☆
Found in Text Mining only
Rheumatoid Arthritis Rheumatoid arthritis GWASDB_DG 17804836, 19503088
★☆☆☆☆
Found in Text Mining only
Severe Acute Respiratory Syndrome Severe Acute Respiratory Syndrome BEFREE 15109406
★☆☆☆☆
Found in Text Mining only