DNALI1 dynein axonemal light intermediate chain 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DNALI1provided by HGNC
Official Full Name: dynein axonemal light intermediate chain 1provided by HGNC
Primary source: HGNC:HGNC:14353
See related: Ensembl:ENSG00000163879 MIM:602135; AllianceGenome:HGNC:14353
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: P28; hp28; SPGF83; dJ423B22.5
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 seen in patients with ICS. Immotile mutant strains of Chlamydomonas, a biflagellated algae, exhibit similar defects. [provided by RefSeq, Jul 2008]
Expression: Broad expression in testis (RPKM 23.5), ovary (RPKM 8.6) and 16 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p34.3

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (37556940..37566857)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (37421691..37431608)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (38022541..38032458)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

DNALI1 is a prognosis-related biomarker and correlates with immune infiltrates in low grade glioma.
Title: DNALI1 is a prognosis-related biomarker and correlates with immune infiltrates in low grade glioma.
DNALI1 deficiency causes male infertility with severe asthenozoospermia in humans and mice by disrupting the assembly of the flagellar inner dynein arms and fibrous sheath.
Title: DNALI1 deficiency causes male infertility with severe asthenozoospermia in humans and mice by disrupting the assembly of the flagellar inner dynein arms and fibrous sheath.
Data indicate a putative toxofilin-binding protein dynein (DNALI1) by yeast two-hybrid assay.
Title: Identification of a novel host protein interacting with Toxoplasma gondii toxofilin via a yeast two-hybrid system.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
ADAP coprecipitates with dynein from activated Jurkat cells, and loss of ADAP prevents microtubule-organizing center (MTOC) translocation and the specific recruitment of dynein to the synapse.
Title: Recruitment of dynein to the Jurkat immunological synapse.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Spermatogenic failure 83 MedGen: C5830470 OMIM: 620354 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-74608 (e-PCR)
- UniSTS:71517

SHGC-74618 (e-PCR)
- UniSTS:19357

SHGC-74625 (e-PCR)
- UniSTS:61129

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables dynein heavy chain binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in sperm flagellum assembly	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in 9+2 motile cilium	IDA Inferred from Direct Assay more info	PubMed
is_active_in axoneme	IBA Inferred from Biological aspect of Ancestor more info
located_in axoneme	IDA Inferred from Direct Assay more info	PubMed
located_in cilium	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in dynein axonemal particle	ISS Inferred from Sequence or Structural Similarity more info
part_of dynein complex	IEA Inferred from Electronic Annotation more info
is_active_in filopodium	IBA Inferred from Biological aspect of Ancestor more info
located_in motile cilium	IDA Inferred from Direct Assay more info	PubMed
located_in sperm flagellum	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: axonemal dynein light intermediate polypeptide 1

Names: dJ423B22.5 (axonemal dynein light chain (hp28)); dynein, axonemal, light intermediate polypeptide 1; inner dynein arm light chain, axonemal; inner dynein arm, homolog of chlamydomonas; inner dynein arm, homolog of clamydomonas

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_003462.5 → NP_003453.3 axonemal dynein light intermediate polypeptide 1

Status: VALIDATED

Source sequence(s)

BC039074, BC046117, BX647913

Consensus CDS

CCDS420.2

UniProtKB/Swiss-Prot

A8K387, B4DHN6, O14645, Q05BL9, Q5HYE2, Q5TGH0, Q7L0I5

Related

ENSP00000498620.1, ENST00000652629.1

Conserved Domains (1) summary

pfam10211
Location:66 → 252

Ax_dynein_light; Axonemal dynein light chain