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

Gene ID: 55567, updated on 31-Oct-2022

Summary

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
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Genomic context

See DNAH3 in Genome Data Viewer
Location:
16p12.3
Exon count:
69
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (20933111..21159459, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (20864026..21090365, complement)
105.20220307 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 defective in cullin neddylation 1 domain containing 3 Neighboring gene LYR motif containing 1 Neighboring gene uncharacterized LOC107984888 Neighboring gene Sharpr-MPRA regulatory region 1818 Neighboring gene lipid droplet assembly factor 1 Neighboring gene uncharacterized LOC105371123 Neighboring gene zona pellucida glycoprotein 2

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

Phenotypes

EBI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 dynein intermediate chain binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables dynein light intermediate chain binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
Process Evidence Code Pubs
involved_in cilium-dependent cell motility NAS
Non-traceable Author Statement
more info
PubMed 
involved_in microtubule-based movement IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in 9+2 motile cilium IEA
Inferred from Electronic Annotation
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
PubMed 
located_in microtubule IEA
Inferred from Electronic Annotation
more info
 

General protein information

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_001347886.2NP_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/Swiss-Prot
    Q8TD57
    UniProtKB/TrEMBL
    B4E1S1
    Related
    ENSP00000513632.1, ENST00000698260.1
  2. NM_001394581.1NP_001381510.1  dynein axonemal heavy chain 3 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC008551
    Related
    ENST00000396036.5
  3. NM_017539.2NP_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
    Q8TD57, Q9UG35
    Related
    ENSP00000261383.3, ENST00000261383.3
    Conserved Domains (5) summary
    pfam03028
    Location:34094104
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08393
    Location:8621262
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12777
    Location:26783025
    MT; Microtubule-binding stalk of dynein motor
    pfam12781
    Location:30543269
    AAA_9; ATP-binding dynein motor region D5
    cl21455
    Location:13911621
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_017023432.2XP_016878921.1  dynein axonemal heavy chain 3 isoform X13

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

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

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

    See identical proteins and their annotated locations for XP_011544185.1

    Conserved Domains (5) summary
    pfam03028
    Location:33704065
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08393
    Location:8231223
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12777
    Location:26392986
    MT; Microtubule-binding stalk of dynein motor
    pfam12781
    Location:30153230
    AAA_9; ATP-binding dynein motor region D5
    cl21455
    Location:13521582
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  5. XM_017023427.2XP_016878916.1  dynein axonemal heavy chain 3 isoform X4

    Conserved Domains (5) summary
    pfam03028
    Location:32893984
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08393
    Location:7421142
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12777
    Location:25582905
    MT; Microtubule-binding stalk of dynein motor
    pfam12781
    Location:29343149
    AAA_9; ATP-binding dynein motor region D5
    cl21455
    Location:12711501
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  6. XM_017023426.2XP_016878915.1  dynein axonemal heavy chain 3 isoform X3

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

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

    See identical proteins and their annotated locations for XP_011544184.1

    Conserved Domains (5) summary
    pfam03028
    Location:33704065
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08393
    Location:8231223
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12777
    Location:26392986
    MT; Microtubule-binding stalk of dynein motor
    pfam12781
    Location:30153230
    AAA_9; ATP-binding dynein motor region D5
    cl21455
    Location:13521582
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  9. XM_011545886.3XP_011544188.1  dynein axonemal heavy chain 3 isoform X8

    Conserved Domains (5) summary
    pfam03028
    Location:30333728
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08393
    Location:486886
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12777
    Location:23022649
    MT; Microtubule-binding stalk of dynein motor
    pfam12781
    Location:26782893
    AAA_9; ATP-binding dynein motor region D5
    cl21455
    Location:10151245
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  10. XM_011545888.2XP_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:25043199
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08393
    Location:1357
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12777
    Location:17732120
    MT; Microtubule-binding stalk of dynein motor
    pfam12781
    Location:21492364
    AAA_9; ATP-binding dynein motor region D5
    cl21455
    Location:486716
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  11. XM_011545889.2XP_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:25043199
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08393
    Location:1357
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12777
    Location:17732120
    MT; Microtubule-binding stalk of dynein motor
    pfam12781
    Location:21492364
    AAA_9; ATP-binding dynein motor region D5
    cl21455
    Location:486716
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  12. XM_017023430.2XP_016878919.1  dynein axonemal heavy chain 3 isoform X11

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

    Conserved Domains (5) summary
    pfam03028
    Location:33703742
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08393
    Location:8231223
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12777
    Location:26392986
    MT; Microtubule-binding stalk of dynein motor
    pfam12781
    Location:30153230
    AAA_9; ATP-binding dynein motor region D5
    cl21455
    Location:13521582
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  14. XM_017023429.2XP_016878918.1  dynein axonemal heavy chain 3 isoform X10

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

    Conserved Domains (2) summary
    pfam08393
    Location:8231223
    DHC_N2; Dynein heavy chain, N-terminal region 2
    cl21455
    Location:13521582
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    20864026..21090365 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)