Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	7802
Gene name	Dynein axonemal light intermediate chain 1
Gene symbol	DNALI1
Synonyms (NCBI Gene)	P28SPGF83dJ423B22.5hp28
Chromosome	1
Chromosome location	1p34.3
Summary	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

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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
MIRT460005	hsa-miR-665	PAR-CLIP	23592263
MIRT460004	hsa-miR-539-5p	PAR-CLIP	23592263
MIRT460003	hsa-miR-7-5p	PAR-CLIP	23592263
MIRT460002	hsa-miR-6077	PAR-CLIP	23592263
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
MIRT460005	hsa-miR-665	PAR-CLIP	23592263
MIRT460004	hsa-miR-539-5p	PAR-CLIP	23592263
MIRT460003	hsa-miR-7-5p	PAR-CLIP	23592263
MIRT460002	hsa-miR-6077	PAR-CLIP	23592263
MIRT942125	hsa-miR-1255a	CLIP-seq
MIRT942126	hsa-miR-1255b	CLIP-seq
MIRT942127	hsa-miR-1293	CLIP-seq
MIRT942128	hsa-miR-1913	CLIP-seq
MIRT942129	hsa-miR-298	CLIP-seq
MIRT942130	hsa-miR-3074-5p	CLIP-seq
MIRT942131	hsa-miR-3120-5p	CLIP-seq
MIRT942132	hsa-miR-3163	CLIP-seq
MIRT942133	hsa-miR-3189-5p	CLIP-seq
MIRT942134	hsa-miR-3198	CLIP-seq
MIRT942135	hsa-miR-324-3p	CLIP-seq
MIRT942136	hsa-miR-3660	CLIP-seq
MIRT942137	hsa-miR-3662	CLIP-seq
MIRT942138	hsa-miR-3688-3p	CLIP-seq
MIRT942139	hsa-miR-3978	CLIP-seq
MIRT942140	hsa-miR-4309	CLIP-seq
MIRT942141	hsa-miR-4483	CLIP-seq
MIRT942142	hsa-miR-4502	CLIP-seq
MIRT942143	hsa-miR-4526	CLIP-seq
MIRT942144	hsa-miR-4659a-3p	CLIP-seq
MIRT942145	hsa-miR-4659b-3p	CLIP-seq
MIRT942146	hsa-miR-4694-3p	CLIP-seq
MIRT942147	hsa-miR-4722-3p	CLIP-seq
MIRT942148	hsa-miR-4758-3p	CLIP-seq
MIRT942149	hsa-miR-4796-5p	CLIP-seq
MIRT942150	hsa-miR-633	CLIP-seq
MIRT1978906	hsa-miR-4699-3p	CLIP-seq
MIRT1978907	hsa-miR-4766-5p	CLIP-seq

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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
GO:0005929	Component	Cilium	IEA
GO:0005930	Component	Axoneme	IBA
GO:0005930	Component	Axoneme	IDA	23849778, 26909801, 31178125
GO:0005930	Component	Axoneme	IEA
GO:0015630	Component	Microtubule cytoskeleton	IDA
GO:0030175	Component	Filopodium	IEA
GO:0030286	Component	Dynein complex	IEA
GO:0031514	Component	Motile cilium	IDA	31178125
GO:0031514	Component	Motile cilium	IEA
GO:0036126	Component	Sperm flagellum	IDA	31178125
GO:0036126	Component	Sperm flagellum	IEA
GO:0042995	Component	Cell projection	IEA
GO:0045171	Component	Intercellular bridge	IDA
GO:0045504	Function	Dynein heavy chain binding	IBA
GO:0045504	Function	Dynein heavy chain binding	IEA
GO:0072686	Component	Mitotic spindle	IDA
GO:0097546	Component	Ciliary base	IBA
GO:0097729	Component	9+2 motile cilium	IDA	26909801
GO:0120293	Component	Dynein axonemal particle	IEA
GO:0120293	Component	Dynein axonemal particle	ISS
GO:0120316	Process	Sperm flagellum assembly	IEA
GO:0120316	Process	Sperm flagellum assembly	IMP	36792588

MIM	HGNC	e!Ensembl
602135	14353	ENSG00000163879

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

MIPPADSLLKYDTPVLVSRNTEKRSPKARLLKVSPQQPGPSGSAPQPPKTKLPSTPCVPD
PTKQAEEILNAILPPREWVEDTQLWIQQVSSTPSTRMDVVHLQEQLDLKLQQRQARETGI
CPVRRELYSQCFDELIREVTINCAERGLLLLRVRDEIRMTIAAYQTLYESSVAFGMRKAL
QAEQGKSDMERKIAELETEKRDLERQVNEQKAKCEATEKRESERRQVEEKKHNEEIQFLK
RTNQQLKAQLEGIIAPKK

Sequence length

258

Interactions

View interactions

	KEGG
	Motor proteins Amyotrophic lateral sclerosis Huntington disease Pathways of neurodegeneration - multiple diseases

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)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Spermatogenic failure 83	Pathogenic	rs2522414352	RCV003224791	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Text Mining Associations (26)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	18474092, 3014050		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthenozoospermia	Asthenozoospermia	Pubtator	36726469	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	29740452		★★★★★ ★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	16639698		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	30895406		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	21710262, 24553345		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	24553345	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	36726469	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	BEFREE	29599005, 30981282		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	19901563		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	30895406		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	22913272		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21710262, 24553345		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21359144		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	24553345		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	29740452		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	28266538		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	BEFREE	20484596		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	30935420	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16639698		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	BEFREE	9325061		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinopathy of Prematurity	Retinopathy	BEFREE	31788758		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	28214898		★★★★★ ★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	25348624		★★★★★ ★☆☆☆☆ Found in Text Mining only
X-linked agammaglobulinemia	Agammaglobulinemia, X-Linked	BEFREE	20881163		★★★★★ ★☆☆☆☆ Found in Text Mining only

DNALI1 (dynein axonemal light intermediate chain 1)