SPAG17
Sperm-associated antigen 17
Also known as: CT143, FLJ34497, PF6, RP4-776P7.2, SPG17_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q6Q759
- Gene
- SPAG17
- Ensembl
- ENSG00000155761
- Chromosome
- 1
- Canonical length
- 2223 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Equatorial segment,Mid piece,Principal piece
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
2223 residues, UniProt reviewed canonical sequence.
>Q6Q759|SPAG17
1 MAPKKEKGGT VNTSSKIWEP SLIAAQFNQN DWQASIAFVV GNQIEDDLLI QALTVAVQVP
61 QRKLFSMVSW QDILQQINEI NTLVGSASSK KAKKPVGGNA PLYYEVLTAA KAIMDSGEKL
121 TLPLIGKLLK FQLLQIKFKD QQRRENEKKV IEDKPKLEKD KGKAKSPKEK KAPSAKPAKG
181 KGKDQPEANA PVKKTTQLKR RGEDDHTNRY IDDEPDDGAQ HYIIVVGFNN PQLLAIMAEL
241 GIPITSVIKI SSENYEPLQT HLAAVNQQQE VLLQSEDLEA EKLKKENAIK ELKTFWKYLE
301 PVLNNEKPET NLFDVARLEY MVKAADFPSD WSDGEMMLKL GTDIFENIAC LMYDILDWKR
361 QHQHYLESMQ LINVPQVVNE KPVLEAMPTS EAPQPAVPAP GKKKAQYEEP QAPPPVTSVI
421 TTEVDMRYYN YLLNPIREEF ISVPLILHCM LEQVVATEED LVPPSLREPS PRADGLDHRI
481 AAHIVSLLPS LCLSEREKKN LHDIFLSEEE NESKAVPKGP LLLNYHDAHA HKKYALQDQK
541 NFDPVQIEQE MQSKLPLWEF LQFPLPPPWN NTKRLATIHE LMHFCTSDVL SWNEVERAFK
601 VFTFESLKLS EVDEKGKLKP SGMMCGSDSE MFNIPWDNPA RFAKQIRQQY VMKMNTQEAK
661 QKADIKIKDR TLFVDQNLSM SVQDNESNRE PSDPSQCDAN NMKHSDLNNL KLSVPDNRQL
721 LEQESIMKAQ PQHESLEQTT NNEIKDDAVT KADSHEKKPK KMMVEADLED IKKTQQRSLM
781 DWSFTEHFKP KVLLQVLQEA HKQYRCVDSY YHTQDNSLLL VFHNPMNRQR LHCEYWNIAL
841 HSNVGFRNYL ELVAKSIQDW ITKEEAIYQE SKMNEKIIRT RAELELKSSA NAKLTSASKI
901 FSIKESKSNK GISKTEISDQ EKEKEKEKIP FILEGSLKAW KEEQHRLAEE ERLREEKKAE
961 KKGKEAGKKK GKDNAEKEDS RSLKKKSPYK EKSKEEQVKI QEVTEESPHQ PEPKITYPFH
1021 GYNMGNIPTQ ISGSNYYLYP SDGGQIEVEK TMFEKGPTFI KVRVVKDNHN FMIHLNDPKE
1081 IVKKEEKGDY YLEEEEEGDE EQSLETEVSD AKNKAFSKFG SFSATLENGI CLSISYYGSN
1141 GMAPEDKDPD LETILNIPSA LTPTVVPVIV TVPQSKAKGK IKGKEKPKES LKEEEHPKEE
1201 EKKEEEVEPE PVLQETLDVP TFQSLNVSCP SGLLLTFIGQ ESTGQYVIDE EPTWDIMVRQ
1261 SYPQRVKHYE FYKTVMPPAE QEASRVITSQ GTVVKYMLDG STQILFADGA VSRSPNSGLI
1321 CPPSEMPATP HSGDLMDSIS QQKSETIPSE ITNTKKGKSH KSQSSMAHKG EIHDPPPEAV
1381 QTVTPVEVHI GTWFTTTPEG NRIGTKGLER IADLTPLLSF QATDPVNGTV MTTREDKVVI
1441 VERKDGTRIV DHADGTRITT FYQVYEDQII LPDDQETTEG PRTVTRQVKC MRVESSRYAT
1501 VIANCEDSSC CATFGDGTTI IAKPQGTYQV LPPNTGSLYI DKDCSAVYCH ESSSNIYYPF
1561 QKREQLRAGR YIMRHTSEVI CEVLDPEGNT FQVMADGSIS TILPEKKLED DLNEKTEGYD
1621 SLSSMHLEKN HQQIYGEHVP RFFVMYADGS GMELLRDSDI EEYLSLAYKE SNTVVLQEPV
1681 QEQPGTLTIT VLRPFHEASP WQVKKEDTIV PPNLRSRSWE TFPSVEKKTP GPPFGTQIWK
1741 GLCIESKQLV SAPGAILKSP SVLQMRQFIQ HEVIKNEVKL RLQVSLKDYI NYILKKEDEL
1801 QEMMVKDSRT EEERGNAADL LKLVMSFPKM EETTKSHVTE VAAHLTDLFK QSLATPPKCP
1861 PDTFGKDFFE KTWRHTASSK RWKEKIDKTR KEIETTQNYL MDIKNRIIPP FFKSELNQLY
1921 QSQYNHLDSL SKKLPSFTKK NEDANETAVQ DTSDLNLDFK PHKVSEQKSS SVPSLPKPEI
1981 SADKKDFTAQ NQTENLTKSP EEAESYEPVK IPTQSLLQDV AGQTRKEKVK LPHYLLSSKP
2041 KSQPLAKVQD SVGGKVNTSS VASAAINNAK SSLFGFHLLP SSVKFGVLKE GHTYATVVKL
2101 KNVGVDFCRF KVKQPPPSTG LKVTYKPGPV AAGMQTELNI ELFATAVGED GAKGSAHISH
2161 NIEIMTEHEV LFLPVEATVL TSSNYDKRPK DFPQGKENPM VQRTSTIYSS TLGVFMSRKV
2221 SPHLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SPAG17 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.44
- Highest tissue expression
- 26 nTPM
Expression across tissuesHPA
Tissue
- choroid plexus: 26 nTPM
- testis: 14 nTPM
- fallopian tube: 7.9 nTPM
- esophagus: 5.8 nTPM
- epididymis: 4.2 nTPM
- pituitary gland: 3.8 nTPM
Single-cell type
- ependymal cells: 1,673 nCPM
- respiratory ciliated cells: 1,268 nCPM
- endometrial ciliated cells: 874 nCPM
- choroid plexus epithelial cells: 722 nCPM
- fallopian tube ciliated cells: 684 nCPM
- epididymal efferent duct ciliated cells: 675 nCPM
Immune cell
- myeloid DC: 0.1 nTPM
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
Brain region
- choroid plexus: 56 nTPM
- midbrain: 19 nTPM
- medulla oblongata: 16 nTPM
- spinal cord: 11 nTPM
- pons: 7.5 nTPM
- white matter: 6.1 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SPAG17.
Disease | AllUniProt
Conditions SPAG17 is implicated in, by any mechanism.
- Spermatogenic failure 55 (SPGF55) MIM:619380
Disease | GeneticClinVar
2 pathogenic / likely-pathogenic of 375 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Cranioectodermal dysplasia 2
- Meniere disease
- Spermatogenic failure 55
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.63
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.08
- DepMap mean gene effect
- 0
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- axonemal central apparatus assembly
- epithelial cilium movement involved in extracellular fluid movement
- intramanchette transport
- manchette assembly
- motile cilium assembly
- spermatogenesis
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Sperm-associated antigen 17
- Flagellar-associated PapD-like
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of SPAG17 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SPAG17 as an antibody target. Whether an autoantibody or antibody against SPAG17 could matter depends on whether native SPAG17 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SPAG17 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label SPAG17 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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