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

Gene ID: 7802, updated on 18-Sep-2024

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
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Genomic context

See DNALI1 in Genome Data Viewer
Location:
1p34.3
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (37556940..37566857)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (37421691..37431608)
RS_2024_09 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

Expression

  • Project title: HPA RNA-seq normal tissues 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 
is_active_in ciliary base IBA
Inferred from Biological aspect of Ancestor
more info
 
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
 
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

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_003462.5NP_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:66252
    Ax_dynein_light; Axonemal dynein light chain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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)