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

Gene ID: 8632, updated on 6-Sep-2022

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
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Genomic context

See DNAH17 in Genome Data Viewer
Location:
17q25.3
Exon count:
81
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (78423697..78577396, complement)
110 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 SOCS3 divergent transcript Neighboring gene RNA, 7SL, cytoplasmic 236, pseudogene Neighboring gene small nucleolar RNA SNORA30/SNORA37 family Neighboring gene phosphatidylglycerophosphate synthase 1 Neighboring gene DNAH17 antisense RNA 1 Neighboring gene RAN binding protein 1 pseudogene Neighboring gene uncharacterized LOC124904065 Neighboring gene RNA, 7SL, cytoplasmic 454, pseudogene Neighboring gene uncharacterized LOC124904066 Neighboring gene S-phase cancer associated transcript 1

Genomic regions, transcripts, and products

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

Homology

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
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 movement IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
involved_in outer dynein arm assembly IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
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
PubMed 
located_in axoneme IDA
Inferred from Direct Assay
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
 
is_active_in motile cilium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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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.

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
    Q8N7Q7
    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: 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_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)

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.