DNAL4 dynein axonemal light chain 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DNAL4provided by HGNC
Official Full Name: dynein axonemal light chain 4provided by HGNC
Primary source: HGNC:HGNC:2955
See related: Ensembl:ENSG00000100246 MIM:610565; AllianceGenome:HGNC:2955
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MRMV3; PIG27
Summary: This gene encodes an axonemal dynein light chain which functions as a component of the outer dynein arms complex. This complex acts as the molecular motor that provides the force to move cilia in an ATP-dependent manner. The encoded protein is expressed in tissues with motile cilia or flagella and may be involved in the movement of sperm flagella. [provided by RefSeq, Dec 2014]
Expression: Broad expression in testis (RPKM 25.2), thyroid (RPKM 13.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 22q13.1

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (38778508..38794143, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (39248847..39264481, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (39174513..39190148, complement)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

No mutation in DNAL4 in Congenital mirror movements.
Title: Congenital mirror movements: no mutation in DNAL4 in 17 index cases.
DNAL4 may play a role in the cytoplasmic dynein complex for netrin-1-directed retrograde transport, and in commissural neurons of the corpus callosum in particular. This could lead to faulty cross-brain wiring, resulting in Mirror movements (MRMV).
Title: Identification of a homozygous splice site mutation in the dynein axonemal light chain 4 gene on 22q13.1 in a large consanguineous family from Pakistan with congenital mirror movement disorder.

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
Mirror movements 3 MedGen: C4015124 OMIM: 616059 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. 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

D22S1550 (e-PCR)
- UniSTS:34190

WI-20171 (e-PCR)
- UniSTS:74129

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables microtubule motor activity	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in microtubule-based movement	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
located_in cilium	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
part_of dynein complex	IEA Inferred from Electronic Annotation more info
located_in microtubule	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: dynein axonemal light chain 4

Names: dynein light chain, outer arm 4; dynein, axonemal, light polypeptide 4; proliferation-inducing gene 27; proliferation-inducing protein 27

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.

Genomic

NG_041804.1 RefSeqGene

Range

5014..20649

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_005740.3 → NP_005731.1 dynein axonemal light chain 4

See identical proteins and their annotated locations for NP_005731.1

Status: REVIEWED

Source sequence(s)

AL035366

Consensus CDS

CCDS13979.1

UniProtKB/Swiss-Prot

O96015, Q6FGB2, Q6FGD0

UniProtKB/TrEMBL

Q53FE0

Related

ENSP00000216068.4, ENST00000216068.9

Conserved Domains (1) summary

cd21453
Location:21 → 103

DLC-like_DNAL4; dynein light chain (DLC)-like domain found in axonemal dynein light chain 4 (DNAL4) and similar proteins