Gene Gene information from NCBI Gene database.
Entrez ID 78997
Gene name Ganglioside induced differentiation associated protein 1 like 1
Gene symbol GDAP1L1
Synonyms (NCBI Gene)
dJ881L22.1dJ995J12.1.1
Chromosome 20
Chromosome location 20q13.12
Summary The ganglioside GD3 synthase causes cell differentiation with neurite sprouting when transfected into the mouse neuroblastoma cell line Neuro2a. After differentiation, the expression of several genes is upregulated, including one that encodes a protein te
miRNA miRNA information provided by mirtarbase database.
96
miRTarBase ID miRNA Experiments Reference
MIRT668185 hsa-miR-411-5p HITS-CLIP 23824327
MIRT636510 hsa-miR-3183 HITS-CLIP 23824327
MIRT636509 hsa-miR-4723-3p HITS-CLIP 23824327
MIRT636508 hsa-miR-6769b-3p HITS-CLIP 23824327
MIRT636507 hsa-miR-3615 HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
1
GO ID Ontology Definition Evidence Reference
GO:0005739 Component Mitochondrion HTP 34800366
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96MZ0
Protein name Ganglioside-induced differentiation-associated protein 1-like 1 (GDAP1-L1)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13417 GST_N_3 49 126 Glutathione S-transferase, N-terminal domain Domain
PF13410 GST_C_2 179 304 Domain
Sequence
MATPNNLTPTNCSWWPISALESDAAKPAEAPDAPEAASPAHWPRESLVLYHWTQSFSSQK
VRLVIAEKGLVCEERDVSLPQSEHKEPWFMRLNLGEEVPVIIHRDNIISDYDQIIDYVER
TFTGEH
VVALMPEVGSLQHARVLQYRELLDALPMDAYTHGCILHPELTTDSMIPKYATAE
IRRHLANATTDLMKLDHEEEPQLSEPYLSKQKKLMAKILEHDDVSYLKKILGELAMVLDQ
IEAELEKRKLENEGQKCELWLCGCAFTLADVLLGATLHRLKFLGLSKKYWEDGSRPNLQS
FFER
VQRRFAFRKVLGDIHTTLLSAVIPNAFRLVKRKPPSFFGASFLMGSLGGMGYFAYW
YLKKKYI
Sequence length 367
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
LATE-ONSET ALZHEIMER'S DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS 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
Colorectal Carcinoma Colorectal Cancer UNIPROT_DG
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus GWASDB_DG 21874001
★☆☆☆☆
Found in Text Mining only
Dyskeratosis Congenita Dyskeratosis congenita Pubtator 29696773 Associate
★☆☆☆☆
Found in Text Mining only
Mood Disorders Mood disorder Pubtator 29696773 Associate
★☆☆☆☆
Found in Text Mining only
Teratozoospermia Teratozoospermia Pubtator 25762640 Associate
★☆☆☆☆
Found in Text Mining only