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DNAH3 dynein axonemal heavy chain 3 [ Homo sapiens (human) ]

Gene ID: 55567, updated on 3-Nov-2024

Summary

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Official Symbol
DNAH3provided by HGNC
Official Full Name
dynein axonemal heavy chain 3provided by HGNC
Primary source
HGNC:HGNC:2949
See related
Ensembl:ENSG00000158486 MIM:603334; AllianceGenome:HGNC:2949
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
HDHC8; HEL-36; DNAHC3B; HSADHC3; DNAHC3-B
Summary
This gene belongs to the dynein family, whose members encode large proteins that are constituents of the microtubule-associated motor protein complex. This complex is composed of dynein heavy, intermediate and light chains, which can be axonemal or cytoplasmic. This protein is an axonemal dynein heavy chain. It is involved in producing force for ciliary beating by using energy from ATP hydrolysis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Dec 2016]
Expression
Biased expression in testis (RPKM 2.3), lung (RPKM 0.6) and 4 other tissues See more
Orthologs
mouse all
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Genomic context

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See DNAH3 in Genome Data Viewer
Location:
16p12.3
Exon count:
69
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (20933111..21159459, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (20864026..21090383, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (20944433..21170762, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371121 Neighboring gene RNA exonuclease 5 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr16:20876915-20878114 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:20878222-20878722 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10543 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10544 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7246 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10545 Neighboring gene defective in cullin neddylation 1 domain containing 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10546 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:20911499-20912284 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:20912285-20913070 Neighboring gene LYR motif containing 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:20982344-20983543 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:20985044-20985544 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7247 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:21059143-21059715 Neighboring gene uncharacterized LOC107984888 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10547 Neighboring gene Sharpr-MPRA regulatory region 1818 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7248 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7249 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:21170492-21170992 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10548 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10549 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10550 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10551 Neighboring gene lipid droplet assembly factor 1 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:21233480-21234004 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:21234005-21234530 Neighboring gene uncharacterized LOC105371123 Neighboring gene zona pellucida glycoprotein 2

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 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. Dynein and dynein-related genes. Milisav I. Cell Motil Cytoskeleton, 1998. PMID 9556328
  2. Identification, tissue specific expression, and chromosomal localisation of several human dynein heavy chain genes. Maiti AK, et al. Eur J Hum Genet, 2000 Dec. PMID 11175280
  3. Isolation of several human axonemal dynein heavy chain genes: genomic structure of the catalytic site, phylogenetic analysis and chromosomal assignment. Chapelin C, et al. FEBS Lett, 1997 Jul 28. PMID 9256245
  4. Identification of dynein heavy chain genes expressed in human and mouse testis: chromosomal localization of an axonemal dynein gene. Neesen J, et al. Gene, 1997 Oct 24. PMID 9373155
  5. Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. Kennedy RB, et al. Hum Genet, 2012 Sep. PMID 22610502, Free PMC Article

See all (19) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
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

EBI GWAS Catalog

Description
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
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

Clone Names

  • FLJ31947, FLJ43919, FLJ43964, DKFZp434N074

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 microtubule motor activity NAS
Non-traceable Author Statement
more info
 PubMed 
enables minus-end-directed microtubule motor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in cilium movement involved in cell motility IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cilium-dependent cell motility NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
is_active_in 9+2 motile cilium IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of axonemal dynein complex NAS
Non-traceable Author Statement
more info
 PubMed 
part_of dynein complex IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in microtubule IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
dynein axonemal heavy chain 3
Names
axonemal beta dynein heavy chain 3
axonemal dynein, heavy chain
ciliary dynein heavy chain 3
dynein heavy chain 3, axonemal
dynein, axonemal, heavy polypeptide 3
epididymis luminal protein 36

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_052617.1 RefSeqGene

    Range
    13596..231331
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001347886.2 → NP_001334815.1  dynein axonemal heavy chain 3 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents use of an alternate promoter and therefore differs in the 5' UTR and 5' coding region, compared to variant 1, and also has additional downstream coding region differences. These differences cause translation initiation at a downstream AUG and result in a shorter isoform (2) with a novel N-terminus, compared to isoform 1.
    Source sequence(s)
    AC008551, AC105410, AF494040, AK125952, AK303958, AK310973, AL096732
    Consensus CDS
    CCDS92121.1
    UniProtKB/TrEMBL
    A0A8I5KSE2, A0A8V8TLI9
    Related
    ENSP00000513632.1, ENST00000698260.1

  2. NM_001394581.1 → NP_001381510.1  dynein axonemal heavy chain 3 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC008551
    UniProtKB/TrEMBL
    B4E1S1
    Related
    ENST00000396036.5

  3. NM_017539.2 → NP_060009.1  dynein axonemal heavy chain 3 isoform 1

    See identical proteins and their annotated locations for NP_060009.1

    Status: REVIEWED

    Description
    Transcript Variant: Thos variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC105410, AF494040, AL096732
    Consensus CDS
    CCDS10594.1
    UniProtKB/Swiss-Prot
    O00437, O15437, O43326, Q3C0H2, Q8TD57, Q8WUP9, Q9UEM3, Q9UEM5, Q9UG35
    UniProtKB/TrEMBL
    A0A8I5KSE2
    Related
    ENSP00000261383.3, ENST00000261383.3
    Conserved Domains (5) summary
    pfam03028
    Location:3409 → 4104
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08393
    Location:862 → 1262
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12777
    Location:2678 → 3025
    MT; Microtubule-binding stalk of dynein motor
    pfam12781
    Location:3054 → 3269
    AAA_9; ATP-binding dynein motor region D5
    cl21455
    Location:1391 → 1621
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

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_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    20933111..21159459 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017023432.2 → XP_016878921.1  dynein axonemal heavy chain 3 isoform X13

    UniProtKB/TrEMBL
    A0A8I5KSE2

  2. XM_047434349.1 → XP_047290305.1  dynein axonemal heavy chain 3 isoform X5

  3. XM_047434348.1 → XP_047290304.1  dynein axonemal heavy chain 3 isoform X2

    UniProtKB/TrEMBL
    A0A8V8TLI9

  4. XM_011545883.1 → XP_011544185.1  dynein axonemal heavy chain 3 isoform X1

    See identical proteins and their annotated locations for XP_011544185.1

    UniProtKB/TrEMBL
    A0A8I5KSE2
    Conserved Domains (5) summary
    pfam03028
    Location:3370 → 4065
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08393
    Location:823 → 1223
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12777
    Location:2639 → 2986
    MT; Microtubule-binding stalk of dynein motor
    pfam12781
    Location:3015 → 3230
    AAA_9; ATP-binding dynein motor region D5
    cl21455
    Location:1352 → 1582
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  5. XM_017023427.2 → XP_016878916.1  dynein axonemal heavy chain 3 isoform X4

    UniProtKB/TrEMBL
    A0A8I5KSE2
    Conserved Domains (5) summary
    pfam03028
    Location:3289 → 3984
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08393
    Location:742 → 1142
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12777
    Location:2558 → 2905
    MT; Microtubule-binding stalk of dynein motor
    pfam12781
    Location:2934 → 3149
    AAA_9; ATP-binding dynein motor region D5
    cl21455
    Location:1271 → 1501
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  6. XM_017023426.2 → XP_016878915.1  dynein axonemal heavy chain 3 isoform X3

    UniProtKB/TrEMBL
    A0A8I5KSE2

  7. XM_017023428.2 → XP_016878917.1  dynein axonemal heavy chain 3 isoform X6

    UniProtKB/TrEMBL
    A0A8I5KSE2

  8. XM_011545882.3 → XP_011544184.1  dynein axonemal heavy chain 3 isoform X1

    See identical proteins and their annotated locations for XP_011544184.1

    UniProtKB/TrEMBL
    A0A8I5KSE2
    Conserved Domains (5) summary
    pfam03028
    Location:3370 → 4065
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08393
    Location:823 → 1223
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12777
    Location:2639 → 2986
    MT; Microtubule-binding stalk of dynein motor
    pfam12781
    Location:3015 → 3230
    AAA_9; ATP-binding dynein motor region D5
    cl21455
    Location:1352 → 1582
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  9. XM_011545886.3 → XP_011544188.1  dynein axonemal heavy chain 3 isoform X8

    UniProtKB/TrEMBL
    A0A8I5KSE2
    Conserved Domains (5) summary
    pfam03028
    Location:3033 → 3728
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08393
    Location:486 → 886
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12777
    Location:2302 → 2649
    MT; Microtubule-binding stalk of dynein motor
    pfam12781
    Location:2678 → 2893
    AAA_9; ATP-binding dynein motor region D5
    cl21455
    Location:1015 → 1245
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  10. XM_011545888.2 → XP_011544190.1  dynein axonemal heavy chain 3 isoform X9

    See identical proteins and their annotated locations for XP_011544190.1

    Conserved Domains (5) summary
    pfam03028
    Location:2504 → 3199
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08393
    Location:1 → 357
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12777
    Location:1773 → 2120
    MT; Microtubule-binding stalk of dynein motor
    pfam12781
    Location:2149 → 2364
    AAA_9; ATP-binding dynein motor region D5
    cl21455
    Location:486 → 716
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  11. XM_011545889.2 → XP_011544191.1  dynein axonemal heavy chain 3 isoform X9

    See identical proteins and their annotated locations for XP_011544191.1

    Conserved Domains (5) summary
    pfam03028
    Location:2504 → 3199
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08393
    Location:1 → 357
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12777
    Location:1773 → 2120
    MT; Microtubule-binding stalk of dynein motor
    pfam12781
    Location:2149 → 2364
    AAA_9; ATP-binding dynein motor region D5
    cl21455
    Location:486 → 716
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  12. XM_017023430.2 → XP_016878919.1  dynein axonemal heavy chain 3 isoform X11

  13. XM_011545885.4 → XP_011544187.1  dynein axonemal heavy chain 3 isoform X7

    UniProtKB/TrEMBL
    A0A8I5KSE2
    Conserved Domains (5) summary
    pfam03028
    Location:3370 → 3742
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08393
    Location:823 → 1223
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12777
    Location:2639 → 2986
    MT; Microtubule-binding stalk of dynein motor
    pfam12781
    Location:3015 → 3230
    AAA_9; ATP-binding dynein motor region D5
    cl21455
    Location:1352 → 1582
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  14. XM_017023429.2 → XP_016878918.1  dynein axonemal heavy chain 3 isoform X10

  15. XM_017023431.2 → XP_016878920.1  dynein axonemal heavy chain 3 isoform X12

    Conserved Domains (2) summary
    pfam08393
    Location:823 → 1223
    DHC_N2; Dynein heavy chain, N-terminal region 2
    cl21455
    Location:1352 → 1582
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    20864026..21090383 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054313444.1 → XP_054169419.1  dynein axonemal heavy chain 3 isoform X13

  2. XM_054313435.1 → XP_054169410.1  dynein axonemal heavy chain 3 isoform X5

  3. XM_054313432.1 → XP_054169407.1  dynein axonemal heavy chain 3 isoform X2

    UniProtKB/TrEMBL
    A0A8V8TLI9

  4. XM_054313431.1 → XP_054169406.1  dynein axonemal heavy chain 3 isoform X14

  5. XM_054313434.1 → XP_054169409.1  dynein axonemal heavy chain 3 isoform X16

  6. XM_054313433.1 → XP_054169408.1  dynein axonemal heavy chain 3 isoform X15

  7. XM_054313436.1 → XP_054169411.1  dynein axonemal heavy chain 3 isoform X17

  8. XM_054313430.1 → XP_054169405.1  dynein axonemal heavy chain 3 isoform X14

  9. XM_054313438.1 → XP_054169413.1  dynein axonemal heavy chain 3 isoform X8

  10. XM_054313439.1 → XP_054169414.1  dynein axonemal heavy chain 3 isoform X9

  11. XM_054313440.1 → XP_054169415.1  dynein axonemal heavy chain 3 isoform X9

  12. XM_054313442.1 → XP_054169417.1  dynein axonemal heavy chain 3 isoform X11

  13. XM_054313437.1 → XP_054169412.1  dynein axonemal heavy chain 3 isoform X18

  14. XM_054313441.1 → XP_054169416.1  dynein axonemal heavy chain 3 isoform X19

  15. XM_054313443.1 → XP_054169418.1  dynein axonemal heavy chain 3 isoform X20

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8TD57.1 GenPept UniProtKB/Swiss-Prot:Q8TD57

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