Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7802
Gene name Gene Name - the full gene name approved by the HGNC.
Dynein axonemal light intermediate chain 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DNALI1
Synonyms (NCBI Gene) Gene synonyms aliases
P28, SPGF83, dJ423B22.5, hp28
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p34.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene is the human homolog of the Chlamydomonas inner dynein arm gene, p28. The precise function of this gene is not known, however, it is a potential candidate for immotile cilia syndrome (ICS). Ultrastructural defects of the inner dynein arms are se
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT017518 hsa-miR-335-5p Microarray 18185580
MIRT460009 hsa-miR-548aa PAR-CLIP 23592263
MIRT460008 hsa-miR-548ap-3p PAR-CLIP 23592263
MIRT460007 hsa-miR-548t-3p PAR-CLIP 23592263
MIRT460006 hsa-miR-4768-3p PAR-CLIP 23592263
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 15383276, 17500595, 23455924, 25416956, 27173435, 32296183, 32814053, 33139725
GO:0005654 Component Nucleoplasm IDA
GO:0005737 Component Cytoplasm IDA 19944400
GO:0005737 Component Cytoplasm IEA
GO:0005929 Component Cilium IDA 27120127
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602135 14353 ENSG00000163879
Protein
UniProt ID O14645
Protein name Axonemal dynein light intermediate polypeptide 1 (Inner dynein arm light chain, axonemal) (hp28)
Protein function Involved in sperm flagellum assembly.
PDB 8J07
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10211 Ax_dynein_light 66 252 Axonemal dynein light chain Family
Tissue specificity TISSUE SPECIFICITY: Expressed in many tissues. A smaller 0.9 kb and a larger 2.5 kb transcripts were detected at the highest level in the testis, at medium levels in the prostate, heart, liver, lung and pancreas, at low levels in the ovary, skeletal muscl
Sequence
Sequence length 258
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Motor proteins
Amyotrophic lateral sclerosis
Huntington disease
Pathways of neurodegeneration - multiple diseases
 
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
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
Spermatogenic Failure spermatogenic failure 83 N/A N/A GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Asthenozoospermia Associate 36726469
Breast Neoplasms Associate 24553345
Congenital Abnormalities Associate 36726469
Lymphoma Non Hodgkin Associate 37955080
Nasopharyngeal Carcinoma Associate 30935420