Gene Gene information from NCBI Gene database.
Entrez ID 9737
Gene name G protein-coupled receptor associated sorting protein 1
Gene symbol GPRASP1
Synonyms (NCBI Gene)
GASPGASP-1GASP1
Chromosome X
Chromosome location Xq22.1
Summary This gene encodes a member of the GPRASP (G protein-coupled receptor associated sorting protein) family. The protein may modulate lysosomal sorting and functional down-regulation of a variety of G-protein coupled receptors. It targets receptors for degrad
miRNA miRNA information provided by mirtarbase database.
57
miRTarBase ID miRNA Experiments Reference
MIRT640963 hsa-miR-3140-3p HITS-CLIP 23313552
MIRT640962 hsa-miR-2681-5p HITS-CLIP 23313552
MIRT640963 hsa-miR-3140-3p HITS-CLIP 23824327
MIRT640962 hsa-miR-2681-5p HITS-CLIP 23824327
MIRT640963 hsa-miR-3140-3p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 15086532, 23954414
GO:0005634 Component Nucleus IBA
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IBA
GO:0005829 Component Cytosol IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300417 24834 ENSG00000198932
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5JY77
Protein name G-protein coupled receptor-associated sorting protein 1 (GASP-1)
Protein function Modulates lysosomal sorting and functional down-regulation of a variety of G-protein coupled receptors. Targets receptors for degradation in lysosomes via its interaction with BECN2. {ECO:0000269|PubMed:12142540, ECO:0000269|PubMed:15452121, ECO
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04826 Arm_2 1142 1391 Armadillo-like Family
Tissue specificity TISSUE SPECIFICITY: Expressed in the brain, with lower expression in medulla, spinal cord and substantia nigra. {ECO:0000269|PubMed:12142540, ECO:0000269|PubMed:15086532}.
Sequence
MTGAEIESGAQVKPEKKPGEEVVGGAEIENDVPLVVRPKVRTQAQIMPGARPKNKSKVMP
GASTKVETSAVGGARPKSKAKAIPVSRFKEEAQMWAQPRFGAERLSKTERNSQTNIIASP
LVSTDSVLVAKTKYLSEDRELVNTDTESFPRRKAHYQAGFQPSFRSKEETNMGSWCCPRP
TSKQEASPNSDFKWVDKSVSSLFWSGDEVTAKFHPGNRVKDSNRSMHMANQEANTMSRSQ
TNQELYIASSSGSEDESVKTPWFWARDKTNTWSGPREDPNSRSRFRSKKEVYVESSSGSE
HEDHLESWFGAGKEAKFRSKMRAGKEANNRARHRAKREACIDFMPGSIDVIKKESCFWPE
ENANTFSRPMIKKEARARAMTKEEAKTKARARAKQEARSEEEALIGTWFWATDESSMADE
ASIESSLQVEDESIIGSWFWTEEEASMGTGASSKSRPRTDGERIGDSLFGAREKTSMKTG
AEATSESILAADDEQVIIGSWFWAGEEVNQEAEEETIFGSWFWVIDAASVESGVGVSCES
RTRSEEEEVIGPWFWSGEQVDIEAGIGEEARPGAEEETIFGSWFWAENQTYMDCRAETSC
DTMQGAEEEEPIIGSWFWTRVEACVEGDVNSKSSLEDKEEAMIPCFGAKEEVSMKHGTGV
RCRFMAGAEETNNKSCFWAEKEPCMYPAGGGSWKSRPEEEEDIVNSWFWSRKYTKPEAII
GSWLWATEESNIDGTGEKAKLLTEEETIINSWFWKEDEAISEATDREESRPEAEEGDIIG
SWFWAGEEDRLEPAAETREEDRLAAEKEGIVGSWFGAREETIRREAGSCSKSSPKAEEEE
VIIGSWFWEEEASPEAVAGVGFESKPGTEEEEITVGSWFWPEEEASIQAGSQAVEEMESE
TEEETIFGSWFWDGKEVSEEAGPCCVSKPEDDEEMIVESWFWSRDKAIKETGTVATCESK
PENEEGAIVGSWFEAEDEVDNRTDNGSNCGSRTLADEDEAIVGSWFWAGDEAHFESNPSP
VFRAICRSTCSVEQEPDPSRRPQSWEEVTVQFKPGPWGRVGFPSISPFRFPKEAASLFCE
MFGGKPRNMVLSPEGEDQESLLQPDQPSPEFPFQYDPSYRSVQEIREHLRAKESTEPESS
SCNCIQCELKIGSEEFEELLLLMEKIRDPFIHEISKIAMGMRSASQFTRDFIRDSGVVSL
IETLLNYPSSRVRTSFLENMIRMAPPYPNLNIIQTYICKVCEETLAYSVDSPEQLSGIRM
IRHLTTTTDYHTLVANYMSGFLSLLATGNAKTRFHVLKMLLNLSENLFMTKELLSAEAVS
EFIGLFNREETNDNIQIVLAIFENIGNNIKKETVFSDDDFNIEPLISAFHKVEKFAKELQ
GKTDNQNDPEG
DQEN
Sequence length 1395
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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
GPRASP1-related disorder Conflicting classifications of pathogenicity; Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Intellectual disability Uncertain significance ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Asthma Asthma BEFREE 30552067
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 36801507 Associate
★☆☆☆☆
Found in Text Mining only
Pancreatic Neoplasms Pancreatic neoplasm Pubtator 36801507 Associate
★☆☆☆☆
Found in Text Mining only
Thyroid Cancer Papillary Papillary thyroid cancer Pubtator 30278442 Associate
★☆☆☆☆
Found in Text Mining only