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Gene Gene information from NCBI Gene database.
Entrez ID 8907
Gene name Adaptor related protein complex 1 subunit mu 1
Gene symbol AP1M1
Synonyms (NCBI Gene)
AP47CLAPM2CLTNMMU-1Amu1A
Chromosome 19
Chromosome location 19p13.11
Summary The protein encoded by this gene is the medium chain of the trans-Golgi network clathrin-associated protein complex AP-1. The other components of this complex are beta-prime-adaptin, gamma-adaptin, and the small chain AP1S1. This complex is located at the
miRNA miRNA information provided by mirtarbase database.
355 Show/Hide all (355)
miRTarBase ID miRNA Experiments Reference
MIRT023891 hsa-miR-1-3p Proteomics 18668040
MIRT025884 hsa-miR-7-5p Microarray 19073608
MIRT025884 hsa-miR-7-5p Sequencing 20371350
MIRT047323 hsa-miR-181a-5p CLASH 23622248
MIRT036991 hsa-miR-877-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
34 Show/Hide all (34)
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane TAS
GO:0005515 Function Protein binding IPI 9341158, 14691137, 16189514, 19060904, 25416956, 28514442, 32296183, 33961781
GO:0005765 Component Lysosomal membrane IEA
GO:0005765 Component Lysosomal membrane NAS 23247405
GO:0005765 Component Lysosomal membrane TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603535 13667 ENSG00000072958
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BXS5
Protein name AP-1 complex subunit mu-1 (AP-mu chain family member mu1A) (Adaptor protein complex AP-1 subunit mu-1) (Adaptor-related protein complex 1 subunit mu-1) (Clathrin assembly protein complex 1 mu-1 medium chain 1) (Clathrin coat assembly protein AP47) (Clathr
Protein function Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the trans-Golgi network (TGN) and endosomes. The AP complexes mediate the recruitment of clathrin to membranes and the recognition of sorting signal
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00928 Adap_comp_sub 157 → 422 Adaptor complexes medium subunit family Family
PF01217 Clat_adaptor_s 2 → 141 Clathrin adaptor complex small chain Domain
Sequence
Sequence length 423
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
Lysosome Nef mediated downregulation of MHC class I complex cell surface expression
Human immunodeficiency virus 1 infection MHC class II antigen presentation
  Lysosome Vesicle Biogenesis
  Golgi Associated Vesicle Biogenesis
  Neutrophil degranulation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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.
Show/Hide Unknown Diseases (6)
Phenotype Name Clinical Significance Source Reference Evidence Score
Cervical cancer Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gastric cancer Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma Likely benign ClinVar —
★★★★★
★★☆☆☆
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
Malignant neoplasm of breast Breast Cancer UNIPROT_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of liver Liver Cancer BEFREE 31289517
★★★★★
★☆☆☆☆
Found in Text Mining only