Format

Send to:

Choose Destination

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

Support Center