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

    Gene ID: 7802, updated on 13-May-2024

    Summary

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    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

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    See DNALI1 in Genome Data Viewer
    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_000001.11Genomic Context describing neighboring genes Neighboring gene Smad nuclear interacting protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 673 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:38021148-38022118 Neighboring gene Sharpr-MPRA regulatory region 12224 Neighboring gene ferritin heavy chain 1 pseudogene 1 Neighboring gene ribosomal protein S27 pseudogene 9 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:38033816-38035015 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:38041731-38042930 Neighboring gene G protein nucleolar 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 770 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 771 Neighboring gene Sharpr-MPRA regulatory region 1638 Neighboring gene Sharpr-MPRA regulatory region 1490 Neighboring gene R-spondin 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:38096333-38096846 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:38098855-38099382 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:38099911-38100438 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:38100439-38100965 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:38126219-38126852 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 772 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:38128815-38129348 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:38129349-38129881 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:38132271-38132990 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 773 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 774 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 775 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:38156929-38157439 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:38157440-38157949 Neighboring gene AFG2 interacting ribosome maturation factor

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Recruitment of dynein to the Jurkat immunological synapse. Combs J, et al. Proc Natl Acad Sci U S A, 2006 Oct 3. PMID 16990435, Free PMC Article
    2. Complementary deoxyribonucleic acid cloning and characterization of a putative human axonemal dynein light chain gene. Kastury K, et al. J Clin Endocrinol Metab, 1997 Sep. PMID 9284741
    3. 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. Wu H, et al. Cell Death Dis, 2023 Feb 15. PMID 36792588, Free PMC Article
    4. Identification of a novel host protein interacting with Toxoplasma gondii toxofilin via a yeast two-hybrid system. Li Y, et al. Acta Biochim Biophys Sin (Shanghai), 2018 Apr 1. PMID 29528377
    5. Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects. Loges NT, et al. Am J Hum Genet, 2009 Dec. PMID 19944400, Free PMC Article

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. DNALI1 Promotes Neurodegeneration after Traumatic Brain Injury via Inhibition of Autophagosome-Lysosome Fusion.
      Title: DNALI1 Promotes Neurodegeneration after Traumatic Brain Injury via Inhibition of Autophagosome-Lysosome Fusion.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    Submit: New GeneRIF Correction

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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)

    1. 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

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      37556940..37566857
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      37421691..37431608
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O14645.2 GenPept UniProtKB/Swiss-Prot:O14645

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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