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

    Gene ID: 55567, updated on 28-Oct-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 (18) 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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