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DNAH5 dynein axonemal heavy chain 5 [ Homo sapiens (human) ]

Gene ID: 1767, updated on 17-Jun-2024

Summary

Official Symbol
DNAH5provided by HGNC
Official Full Name
dynein axonemal heavy chain 5provided by HGNC
Primary source
HGNC:HGNC:2950
See related
Ensembl:ENSG00000039139 MIM:603335; AllianceGenome:HGNC:2950
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
HL1; PCD; CILD3; KTGNR; DNAHC5
Summary
This gene encodes a dynein protein, which is part of a microtubule-associated motor protein complex consisting of heavy, light, and intermediate chains. This protein is an axonemal heavy chain dynein. It functions as a force-generating protein with ATPase activity, whereby the release of ADP is thought to produce the force-producing power stroke. Mutations in this gene cause primary ciliary dyskinesia type 3, as well as Kartagener syndrome, which are both diseases due to ciliary defects. [provided by RefSeq, Oct 2009]
Expression
Biased expression in lung (RPKM 1.0), thyroid (RPKM 0.6) and 10 other tissues See more
Orthologs
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Genomic context

See DNAH5 in Genome Data Viewer
Location:
5p15.2
Exon count:
86
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (13690328..14011818, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (13627358..13948914, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (13690437..13944797, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900942 Neighboring gene ribosomal protein L29 pseudogene 13 Neighboring gene meiotic recombination hotspot J Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:13858976-13860175 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15932 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:14034965-14035492 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:14035876-14037075 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:14055383-14055883 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15933 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:14108867-14110066 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:14119192-14119747 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:14118635-14119191 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:14125559-14126060 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15934 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15935 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15936 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15937 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15938 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15939 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22387 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22388 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:14174256-14174781 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22390 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22389 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22391 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22392 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22393 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22394 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22395 Neighboring gene trio Rho guanine nucleotide exchange factor Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22396 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22397 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22398 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:14254265-14254435 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22399 Neighboring gene Sharpr-MPRA regulatory region 5150 Neighboring gene uncharacterized LOC124900943 Neighboring gene OCT4 hESC enhancer GRCh37_chr5:14346974-14347475 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:14358109-14358798 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:14399912-14401111 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:14406263-14407462 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15940 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:14417547-14418093 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:14445485-14446012 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:14446013-14446539 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22401 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22402 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22403 Neighboring gene Sharpr-MPRA regulatory region 14564 Neighboring gene small nucleolar RNA, C/D box 170

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
Primary ciliary dyskinesia 3
MedGen: C1837618 OMIM: 608644 GeneReviews: Primary Ciliary Dyskinesia
Compare labs

EBI GWAS Catalog

Description
A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order.
EBI GWAS Catalog
A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.
EBI GWAS Catalog
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
EBI GWAS Catalog
Genome-wide association study for subclinical atherosclerosis in major arterial territories in the NHLBI's Framingham Heart Study.
EBI GWAS Catalog
Identification of a candidate gene for astigmatism.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ46759, KIAA1603

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables ATP hydrolysis activity IEA
Inferred from Electronic Annotation
more info
 
enables dynein intermediate chain binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables dynein light intermediate chain binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables minus-end-directed microtubule motor activity IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
located_in 9+0 motile cilium IEA
Inferred from Electronic Annotation
more info
 
is_active_in 9+2 motile cilium IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in 9+2 motile cilium IDA
Inferred from Direct Assay
more info
PubMed 
located_in axoneme IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
 
located_in microtubule IEA
Inferred from Electronic Annotation
more info
 
located_in motile cilium IDA
Inferred from Direct Assay
more info
PubMed 
part_of outer dynein arm IBA
Inferred from Biological aspect of Ancestor
more info
 
part_of outer dynein arm IDA
Inferred from Direct Assay
more info
PubMed 
part_of outer dynein arm IMP
Inferred from Mutant Phenotype
more info
PubMed 

General protein information

Preferred Names
dynein axonemal heavy chain 5
Names
axonemal beta dynein heavy chain 5
ciliary dynein heavy chain 5
dynein heavy chain 5, axonemal
dynein, axonemal, heavy polypeptide 5

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

  1. NG_013081.2 RefSeqGene

    Range
    4793..259153
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001369.3NP_001360.1  dynein axonemal heavy chain 5

    See identical proteins and their annotated locations for NP_001360.1

    Status: REVIEWED

    Source sequence(s)
    AC016546, AC016576, AC026811
    Consensus CDS
    CCDS3882.1
    UniProtKB/Swiss-Prot
    Q8TE73, Q92860, Q96L74, Q9H5S7, Q9HCG9
    UniProtKB/TrEMBL
    A0A7P0Z455
    Related
    ENSP00000265104.4, ENST00000265104.5
    Conserved Domains (7) summary
    pfam03028
    Location:39324613
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08385
    Location:248802
    DHC_N1; Dynein heavy chain, N-terminal region 1
    pfam08393
    Location:14051807
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12777
    Location:32023547
    MT; Microtubule-binding stalk of dynein motor
    pfam12781
    Location:35753791
    AAA_9; ATP-binding dynein motor region D5
    pfam16999
    Location:32063303
    V-ATPase_G_2; Vacuolar (H+)-ATPase G subunit
    cl21455
    Location:19422173
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

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_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    13690328..14011818 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017009177.2XP_016864666.1  dynein axonemal heavy chain 5 isoform X3

    UniProtKB/TrEMBL
    A0A7P0Z455
  2. XM_005248262.4XP_005248319.2  dynein axonemal heavy chain 5 isoform X1

    UniProtKB/TrEMBL
    A0A7P0Z455
    Related
    ENSP00000505288.1, ENST00000681290.1
  3. XM_047416886.1XP_047272842.1  dynein axonemal heavy chain 5 isoform X2

    UniProtKB/TrEMBL
    A0A7P0Z455
  4. XM_017009179.3XP_016864668.1  dynein axonemal heavy chain 5 isoform X4

    UniProtKB/TrEMBL
    A0A7P0Z455
    Conserved Domains (4) summary
    pfam03028
    Location:36054291
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08385
    Location:1473
    DHC_N1; Dynein heavy chain, N-terminal region 1
    pfam08393
    Location:10801478
    DHC_N2; Dynein heavy chain, N-terminal region 2
    cl25937
    Location:13143956
    MT; Microtubule-binding stalk of dynein motor
  5. XM_017009185.1XP_016864674.1  dynein axonemal heavy chain 5 isoform X9

  6. XM_017009186.2XP_016864675.1  dynein axonemal heavy chain 5 isoform X10

  7. XM_017009188.2XP_016864677.1  dynein axonemal heavy chain 5 isoform X12

  8. XM_017009180.2XP_016864669.1  dynein axonemal heavy chain 5 isoform X5

    UniProtKB/TrEMBL
    A0A7P0Z455
  9. XM_017009181.2XP_016864670.1  dynein axonemal heavy chain 5 isoform X6

    UniProtKB/TrEMBL
    A0A7P0Z455
  10. XM_017009182.2XP_016864671.1  dynein axonemal heavy chain 5 isoform X7

    UniProtKB/TrEMBL
    A0A7P0Z455
  11. XM_017009184.2XP_016864673.1  dynein axonemal heavy chain 5 isoform X8

  12. XM_017009187.2XP_016864676.1  dynein axonemal heavy chain 5 isoform X11

RNA

  1. XR_001742034.2 RNA Sequence

  2. XR_001742035.2 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    13627358..13948914 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054351940.1XP_054207915.1  dynein axonemal heavy chain 5 isoform X3

    UniProtKB/TrEMBL
    A0A7P0Z455
  2. XM_054351938.1XP_054207913.1  dynein axonemal heavy chain 5 isoform X1

    UniProtKB/TrEMBL
    A0A7P0Z455
  3. XM_054351939.1XP_054207914.1  dynein axonemal heavy chain 5 isoform X2

    UniProtKB/TrEMBL
    A0A7P0Z455
  4. XM_054351941.1XP_054207916.1  dynein axonemal heavy chain 5 isoform X4

    UniProtKB/TrEMBL
    A0A7P0Z455
  5. XM_054351946.1XP_054207921.1  dynein axonemal heavy chain 5 isoform X9

  6. XM_054351947.1XP_054207922.1  dynein axonemal heavy chain 5 isoform X10

  7. XM_054351949.1XP_054207924.1  dynein axonemal heavy chain 5 isoform X12

  8. XM_054351942.1XP_054207917.1  dynein axonemal heavy chain 5 isoform X5

    UniProtKB/TrEMBL
    A0A7P0Z455
  9. XM_054351943.1XP_054207918.1  dynein axonemal heavy chain 5 isoform X6

    UniProtKB/TrEMBL
    A0A7P0Z455
  10. XM_054351944.1XP_054207919.1  dynein axonemal heavy chain 5 isoform X7

    UniProtKB/TrEMBL
    A0A7P0Z455
  11. XM_054351945.1XP_054207920.1  dynein axonemal heavy chain 5 isoform X8

  12. XM_054351948.1XP_054207923.1  dynein axonemal heavy chain 5 isoform X11

RNA

  1. XR_008487093.1 RNA Sequence

  2. XR_008487094.1 RNA Sequence