SPRING1 (SREBF pathway regulator in golgi 1)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
79794
Gene name Gene Name - the full gene name approved by the HGNC.
SREBF pathway regulator in golgi 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SPRING1
Synonyms (NCBI Gene) Gene synonyms aliases
C12orf49, LUR1, POST1, SPRING
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q24.22
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all(7)
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IDA 32111832
GO:0000139 Component Golgi membrane IEA
GO:0005515 Function Protein binding IPI 25416956, 32111832, 32296183
GO:0005794 Component Golgi apparatus IEA
GO:0016020 Component Membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Q9H741
Protein name SREBP regulating gene protein (SREBF pathway regulator in Golgi 1)
Protein function Positively regulates hepatic SREBP signaling pathway by modulating the proper localization of SCAP (SREBP cleavage-activating protein) to the endoplasmic reticulum, thereby controlling the level of functional SCAP.
PDB 8UW8
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10218 DUF2054 70 → 195 Uncharacterized conserved protein (DUF2054) Family
Sequence
Sequence length 205
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (1)
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.
Disease merge term Disease name Evidence References Source
Neuroticism Neuroticism N/A N/A GWAS