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    SPAG17 sperm associated antigen 17 [ Homo sapiens (human) ]

    Gene ID: 200162, updated on 17-Jun-2019

    Summary

    Official Symbol
    SPAG17provided by HGNC
    Official Full Name
    sperm associated antigen 17provided by HGNC
    Primary source
    HGNC:HGNC:26620
    See related
    Ensembl:ENSG00000155761 MIM:616554
    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
    PF6; CT143
    Summary
    This gene encodes a central pair protein present in the axonemes of cells with a "9 + 2" organization of microtubules. The encoded protein is required for the proper function of the axoneme. Mutations in the orthologous gene in mice lead to primary ciliary dyskinesia characterized by immotile nasal and tracheal cilia, reduced clearance of nasal mucus, profound respiratory distress, hydrocephalus, and neonatal lethality within twelve hours of birth due to impaired airway mucociliary clearance. Single-nucleotide polymorphisms in this gene are associated with human height and targeted mutations lead to skeletal malformations affecting the limbs in mice, suggesting a role for this gene in skeletal development. [provided by RefSeq, Feb 2017]
    Expression
    Biased expression in testis (RPKM 9.4), esophagus (RPKM 2.4) and 3 other tissues See more
    Orthologs

    Genomic context

    See SPAG17 in Genome Data Viewer
    Location:
    1p12
    Exon count:
    56
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (117953590..118185228, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (118496288..118727848, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378929 Neighboring gene ganglioside induced differentiation associated protein 2 Neighboring gene Sharpr-MPRA regulatory region 13757 Neighboring gene WD repeat domain 3 Neighboring gene uncharacterized LOC105378930 Neighboring gene RNA, 5S ribosomal pseudogene 56 Neighboring gene VISTA enhancer hs1428

    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 FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    A genome-wide association study identifies two risk loci for congenital heart malformations in Han Chinese populations.
    NHGRI GWA Catalog
    A novel common variant in DCST2 is associated with length in early life and height in adulthood.
    NHGRI GWA Catalog
    Genome-wide association analysis identifies 20 loci that influence adult height.
    NHGRI GWA Catalog
    Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
    NHGRI GWA Catalog
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    NHGRI GWA Catalog
    Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
    NHGRI GWA Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ34497, FLJ44343, FLJ44353, DKFZp434B0610

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    axonemal central apparatus assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    epithelial cilium movement IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    axonemal central apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    microtubule IEA
    Inferred from Electronic Annotation
    more info
     
    motile cilium IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    sperm-associated antigen 17
    Names
    projection protein PF6 homolog

    NCBI Reference Sequences (RefSeq)

    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_053041.1 RefSeqGene

      Range
      4957..236631
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_206996.4NP_996879.1  sperm-associated antigen 17

      See identical proteins and their annotated locations for NP_996879.1

      Status: REVIEWED

      Source sequence(s)
      AL121993, AL513191, AY555274, DB060943, DB340825
      Consensus CDS
      CCDS899.1
      UniProtKB/Swiss-Prot
      Q6Q759
      Related
      ENSP00000337804.5, ENST00000336338.9
      Conserved Domains (2) summary
      pfam04004
      Location:248346
      Leo1; Leo1-like protein
      pfam14874
      Location:20762180
      PapD-like; Flagellar-associated PapD-like

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      117953590..118185228 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011540934.1XP_011539236.1  sperm-associated antigen 17 isoform X2

      Conserved Domains (2) summary
      pfam04004
      Location:248346
      Leo1; Leo1-like protein
      pfam14874
      Location:20322136
      PapD-like; Flagellar-associated PapD-like
    2. XM_006710427.3XP_006710490.1  sperm-associated antigen 17 isoform X3

      Conserved Domains (1) summary
      pfam14874
      Location:20112115
      PapD-like; Flagellar-associated PapD-like
    3. XM_006710426.3XP_006710489.1  sperm-associated antigen 17 isoform X1

      Conserved Domains (2) summary
      pfam04004
      Location:248346
      Leo1; Leo1-like protein
      pfam14874
      Location:20382142
      PapD-like; Flagellar-associated PapD-like
    4. XM_011540935.2XP_011539237.1  sperm-associated antigen 17 isoform X4

      Conserved Domains (2) summary
      pfam04004
      Location:135233
      Leo1; Leo1-like protein
      pfam14874
      Location:19632067
      PapD-like; Flagellar-associated PapD-like
    5. XM_011540937.2XP_011539239.1  sperm-associated antigen 17 isoform X5

      See identical proteins and their annotated locations for XP_011539239.1

      Conserved Domains (1) summary
      pfam14874
      Location:15261630
      PapD-like; Flagellar-associated PapD-like
    6. XM_011540936.2XP_011539238.1  sperm-associated antigen 17 isoform X5

      See identical proteins and their annotated locations for XP_011539238.1

      Conserved Domains (1) summary
      pfam14874
      Location:15261630
      PapD-like; Flagellar-associated PapD-like
    7. XM_006710429.3XP_006710492.1  sperm-associated antigen 17 isoform X8

      Conserved Domains (1) summary
      pfam14874
      Location:12041308
      PapD-like; Flagellar-associated PapD-like
    8. XM_011540941.2XP_011539243.1  sperm-associated antigen 17 isoform X7

      See identical proteins and their annotated locations for XP_011539243.1

      Conserved Domains (1) summary
      pfam14874
      Location:13151419
      PapD-like; Flagellar-associated PapD-like
    9. XM_006710428.3XP_006710491.1  sperm-associated antigen 17 isoform X6

      See identical proteins and their annotated locations for XP_006710491.1

      Conserved Domains (1) summary
      pfam14874
      Location:13491453
      PapD-like; Flagellar-associated PapD-like
    10. XM_011540942.2XP_011539244.1  sperm-associated antigen 17 isoform X7

      See identical proteins and their annotated locations for XP_011539244.1

      Conserved Domains (1) summary
      pfam14874
      Location:13151419
      PapD-like; Flagellar-associated PapD-like
    11. XM_011540939.2XP_011539241.1  sperm-associated antigen 17 isoform X6

      See identical proteins and their annotated locations for XP_011539241.1

      Conserved Domains (1) summary
      pfam14874
      Location:13491453
      PapD-like; Flagellar-associated PapD-like
    12. XM_006710431.3XP_006710494.1  sperm-associated antigen 17 isoform X9

      Conserved Domains (1) summary
      pfam14874
      Location:10051109
      PapD-like; Flagellar-associated PapD-like

    RNA

    1. XR_946574.1 RNA Sequence

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