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Gene Gene information from NCBI Gene database.
Entrez ID 79929
Gene name MAP6 domain containing 1
Gene symbol MAP6D1
Synonyms (NCBI Gene)
MAPO6D1SL21
Chromosome 3
Chromosome location 3q27.1
Summary This gene encodes a protein highly similar to the mouse MAP6 domain containing 1 protein, which is related to the STOP proteins. Based on the study of the mouse protein, the encoded protein may function as a calmodulin-regulated neuronal protein that bind
miRNA miRNA information provided by mirtarbase database.
48 Show/Hide all (48)
miRTarBase ID miRNA Experiments Reference
MIRT024318 hsa-miR-215-5p Microarray 19074876
MIRT026708 hsa-miR-192-5p Microarray 19074876
MIRT1129708 hsa-miR-1238 CLIP-seq
MIRT1129709 hsa-miR-125a-3p CLIP-seq
MIRT1129710 hsa-miR-1299 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16 Show/Hide all (16)
GO ID Ontology Definition Evidence Reference
GO:0000226 Process Microtubule cytoskeleton organization IEA
GO:0005516 Function Calmodulin binding IEA
GO:0005737 Component Cytoplasm IEA
GO:0005794 Component Golgi apparatus IEA
GO:0005798 Component Golgi-associated vesicle IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610593 25753 ENSG00000180834
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H9H5
Protein name MAP6 domain-containing protein 1 (21 kDa STOP-like protein) (SL21)
Protein function May have microtubule-stabilizing activity.
Family and domains
Sequence
MAWPCISRLCCLARRWNQLDRSDVAVPLTLHGYSDLDSEEPGTGGAASRRGQPPAGARDS
GRDVPLTQYQRDFGLWTTPAGPKDPPPGRGPGAGGRRGKSSAQSSAPPAPGARGVYVLPI
GDADAAAAVTTSYRQEFQAWTGVKPSRSTKTKPARVITTHTSGWDSSPGAGFQVPEVRKK
FTPNPSAIFQASAPRILNV
Sequence length 199
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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 Reference Evidence Score
MAP6D1-related disorder Benign; 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
Carcinoma Renal Cell Renal cell carcinoma Pubtator 28349958 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Lymphatic Metastasis Lymphatic metastasis Pubtator 31348270 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Prostatic Neoplasms Prostatic neoplasm Pubtator 31348270 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only