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

Gene ID: 7802, updated on 9-Jul-2021

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
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; 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
109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (37556940..37566857)
105.20201022 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 ferritin heavy chain 1 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 12224 Neighboring gene ribosomal protein S27 pseudogene 9 Neighboring gene G protein nucleolar 2 Neighboring gene Sharpr-MPRA regulatory region 1638 Neighboring gene R-spondin 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
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
PubMed 
located_in axoneme IDA
Inferred from Direct Assay
more info
PubMed 
located_in ciliary base IEA
Inferred from Electronic Annotation
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
 
is_active_in filopodium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
    CCDS420.1
    Related
    ENSP00000498620.1, ENST00000652629.1
    Conserved Domains (1) summary
    pfam10211
    Location:66252
    Ax_dynein_light; Axonemal dynein light chain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

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