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    DNAH17 dynein axonemal heavy chain 17 [ Homo sapiens (human) ]

    Gene ID: 8632, updated on 11-Apr-2024

    Summary

    Official Symbol
    DNAH17provided by HGNC
    Official Full Name
    dynein axonemal heavy chain 17provided by HGNC
    Primary source
    HGNC:HGNC:2946
    See related
    Ensembl:ENSG00000187775 MIM:610063; AllianceGenome:HGNC:2946
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DNEL2; DNAHL1; SPGF39
    Summary
    Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. DNAH17 is a heavy chain associated with axonemal dynein (Milisav and Affara, 1998 [PubMed 9545504]).[supplied by OMIM, Mar 2008]
    Expression
    Biased expression in testis (RPKM 7.4), brain (RPKM 1.0) and 4 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    Location:
    17q25.3
    Exon count:
    81
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (78423697..78577396, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (79317211..79471915, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (76419778..76573478, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:76367859-76368426 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:76368427-76368994 Neighboring gene SOCS3 divergent transcript Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:76374619-76375580 Neighboring gene RNA, 7SL, cytoplasmic 236, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12893 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12894 Neighboring gene small nucleolar RNA SNORA30/SNORA37 family Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76396609-76397114 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:76406789-76407334 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:76407335-76407878 Neighboring gene phosphatidylglycerophosphate synthase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12895 Neighboring gene Sharpr-MPRA regulatory region 14012 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76413655-76414163 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76415673-76416357 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:76418631-76419210 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:76422004-76422504 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:76422505-76423005 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76433212-76433840 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:76446189-76446410 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76446540-76447118 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:76461956-76462618 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:76463282-76463943 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12896 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12898 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12897 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12899 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12900 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9069 Neighboring gene DNAH17 antisense RNA 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:76489132-76490331 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76493472-76494020 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76494021-76494569 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr17:76502868-76504067 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:76506209-76507408 Neighboring gene RAN binding protein 1 pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:76521839-76522454 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr17:76528450-76529649 Neighboring gene uncharacterized LOC124904065 Neighboring gene RNA, 7SL, cytoplasmic 454, pseudogene Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:76554009-76555208 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76576879-76577380 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:76583208-76583369 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76584370-76584882 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76584883-76585395 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:76614363-76614864 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:76614865-76615364 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76618411-76619402 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76622057-76622556 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76627973-76628474 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76641825-76642326 Neighboring gene uncharacterized LOC124904066 Neighboring gene S-phase cancer associated transcript 1

    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
    Spermatogenic failure 39
    MedGen: C5231438 OMIM: 618643 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Amerindian-specific regions under positive selection harbour new lipid variants in Latinos.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ40457, MGC132767, MGC138489

    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
     
    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 
    involved_in outer dynein arm assembly IDA
    Inferred from Direct Assay
    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 
    is_active_in axoneme IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in axoneme IDA
    Inferred from Direct Assay
    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
     
    part_of outer dynein arm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in sperm flagellum IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    dynein axonemal heavy chain 17
    Names
    axonemal beta dynein heavy chain 17
    axonemal dynein heavy chain-like protein 1
    ciliary dynein heavy chain 17
    ciliary dynein heavy chain-like protein 1
    dynein axonemal light chain 2
    dynein heavy chain 17, axonemal
    dynein light chain 2, axonemal
    dynein, axonemal, heavy polypeptide 17

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_173628.4NP_775899.3  dynein axonemal heavy chain 17

      Status: VALIDATED

      Source sequence(s)
      AC016182, AC061992
      Consensus CDS
      CCDS11757.2
      UniProtKB/Swiss-Prot
      O00431, O15206, Q2M2Y1, Q6ZRQ2, Q8N7Q7, Q9UFH2
      Related
      ENSP00000374490.6, ENST00000389840.7
      Conserved Domains (8) summary
      pfam12775
      Location:24162687
      AAA_7; P-loop containing dynein motor region D3
      pfam12780
      Location:27643031
      AAA_8; P-loop containing dynein motor region D4
      pfam03028
      Location:37654459
      Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
      pfam08385
      Location:190767
      DHC_N1; Dynein heavy chain, N-terminal region 1
      pfam08393
      Location:12761675
      DHC_N2; Dynein heavy chain, N-terminal region 2
      pfam12781
      Location:34133627
      AAA_9; ATP-binding dynein motor region D5
      cl21455
      Location:18092039
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
      cl25937
      Location:30433386
      MT; Microtubule-binding stalk of dynein motor

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      78423697..78577396 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024451013.2XP_024306781.1  dynein axonemal heavy chain 17 isoform X2

      Conserved Domains (8) summary
      pfam12775
      Location:23682639
      AAA_7; P-loop containing dynein motor region D3
      pfam12780
      Location:27162983
      AAA_8; P-loop containing dynein motor region D4
      pfam03028
      Location:37174415
      Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
      pfam08385
      Location:190767
      DHC_N1; Dynein heavy chain, N-terminal region 1
      pfam08393
      Location:12281627
      DHC_N2; Dynein heavy chain, N-terminal region 2
      pfam12781
      Location:33653579
      AAA_9; ATP-binding dynein motor region D5
      cl21455
      Location:17611991
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
      cl25937
      Location:29953338
      MT; Microtubule-binding stalk of dynein motor
    2. XM_011525416.3XP_011523718.1  dynein axonemal heavy chain 17 isoform X1

      Conserved Domains (8) summary
      pfam03028
      Location:37664456
      Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
      pfam08385
      Location:189767
      DHC_N1; Dynein heavy chain, N-terminal region 1
      pfam08393
      Location:12721676
      DHC_N2; Dynein heavy chain, N-terminal region 2
      pfam12775
      Location:24162687
      AAA_7; P-loop containing dynein motor region D3
      pfam12777
      Location:30433386
      MT; Microtubule-binding stalk of dynein motor
      pfam12780
      Location:27643031
      AAA_8; P-loop containing dynein motor region D4
      pfam12781
      Location:34133626
      AAA_9; ATP-binding dynein motor region D5
      cl21455
      Location:18092039
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    3. XM_047436981.1XP_047292937.1  dynein axonemal heavy chain 17 isoform X3

    4. XM_024451014.2XP_024306782.1  dynein axonemal heavy chain 17 isoform X4

      Conserved Domains (6) summary
      pfam12775
      Location:24162687
      AAA_7; P-loop containing dynein motor region D3
      pfam08385
      Location:190767
      DHC_N1; Dynein heavy chain, N-terminal region 1
      pfam08393
      Location:12761675
      DHC_N2; Dynein heavy chain, N-terminal region 2
      pfam12781
      Location:34133509
      AAA_9; ATP-binding dynein motor region D5
      cl21455
      Location:27643031
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
      cl25937
      Location:30433386
      MT; Microtubule-binding stalk of dynein motor

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      79317211..79471915 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054317645.1XP_054173620.1  dynein axonemal heavy chain 17 isoform X2

    2. XM_054317644.1XP_054173619.1  dynein axonemal heavy chain 17 isoform X1

    3. XM_054317646.1XP_054173621.1  dynein axonemal heavy chain 17 isoform X3

    4. XM_054317647.1XP_054173622.1  dynein axonemal heavy chain 17 isoform X4

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_003727.1: Suppressed sequence

      Description
      NM_003727.1: This RefSeq was permanently suppressed because the CDS was partial.