SPAG8 (sperm associated antigen 8)

Gene

• Entrez ID: 26206
• Gene name: Sperm associated antigen 8
• Gene symbol: SPAG8
• Synonyms (NCBI Gene): BS-84, CILD28, CT142, HSD-1, SMP1, SPAG3, hSMP-1
• Chromosome: 9
• Chromosome location: 9p13.3
• Summary: The correlation of anti-sperm antibodies with cases of unexplained infertility implicates a role for these antibodies in blocking fertilization. Improved diagnosis and treatment of immunologic infertility, as well as identification of proteins for targete

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1381748	hsa-miR-1208	CLIP-seq
MIRT1381749	hsa-miR-3607-3p	CLIP-seq
MIRT1381750	hsa-miR-3686	CLIP-seq
MIRT1381751	hsa-miR-4420	CLIP-seq
MIRT1381752	hsa-miR-4426	CLIP-seq
MIRT1381753	hsa-miR-4647	CLIP-seq
MIRT1381754	hsa-miR-4662b	CLIP-seq
MIRT1381755	hsa-miR-548ac	CLIP-seq
MIRT1381756	hsa-miR-548ae	CLIP-seq
MIRT1381757	hsa-miR-548aj	CLIP-seq
MIRT1381758	hsa-miR-548am	CLIP-seq
MIRT1381759	hsa-miR-548d-3p	CLIP-seq
MIRT1381760	hsa-miR-548x	CLIP-seq
MIRT1381761	hsa-miR-548z	CLIP-seq
MIRT1381762	hsa-miR-892a	CLIP-seq
MIRT1557086	hsa-miR-2861	CLIP-seq
MIRT1381751	hsa-miR-4420	CLIP-seq
MIRT2114211	hsa-miR-587	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001669	Component	Acrosomal vesicle	IEA
GO:0001673	Component	Male germ cell nucleus	IEA
GO:0005515	Function	Protein binding	IPI	24722188, 25416956, 32296183, 32814053
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005815	Component	Microtubule organizing center	IEA
GO:0005819	Component	Spindle	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005879	Component	Axonemal microtubule	IDA	36191189
GO:0005879	Component	Axonemal microtubule	ISS
GO:0005929	Component	Cilium	IDA
GO:0005929	Component	Cilium	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007338	Process	Single fertilization	IEA
GO:0008017	Function	Microtubule binding	IEA
GO:0016020	Component	Membrane	NAS	8788182
GO:0030154	Process	Cell differentiation	IEA
GO:0030317	Process	Flagellated sperm motility	IEA
GO:0030317	Process	Flagellated sperm motility	ISS
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031514	Component	Motile cilium	IEA
GO:0036126	Component	Sperm flagellum	IEA
GO:0036126	Component	Sperm flagellum	ISS
GO:0042995	Component	Cell projection	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0160111	Component	Axonemal A tubule inner sheath	IEA
GO:0160111	Component	Axonemal A tubule inner sheath	ISS

Other IDs

• MIM: 605731
• HGNC: 14105
• e!Ensembl: ENSG00000137098

Protein

• UniProt ID: Q99932
• Protein name: Sperm-associated antigen 8 (HSD-1) (Sperm membrane protein 1) (SMP-1) (Sperm membrane protein BS-84)
• Protein function: Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating (PubMed:36191189). Plays a role in spermatogenesis by enhancing the binding of CREM isoform tau
• PDB: 7UNG, 8J07
• Tissue specificity: TISSUE SPECIFICITY: Expressed in testis (germ cells), but not in liver, kidney, prostate and small intestine. Expressed in airway epithelial cells (PubMed:36191189). {ECO:0000269|PubMed:36191189, ECO:0000269|PubMed:8788182}.
• Sequence:

  METNESTEGSRSRSRSLDIQPSSEGLGPTSEPFPSSDDSPRSALAAATAAAAAAASAAAA
  TAAFTTAKAAALSTKTPAPCSEFMEPSSDPSLLGEPCAGPGFTHNIAHGSLGFEPVYVSC
  IAQDTCTTTDHSSNPGPVPGSSSGPVLGSSSGAGHGSGSGSGPGCGSVPGSGSGPGPGSG
  PGSGPGHGSGSHPGPASGPGPDTGPDSELSPCIPPGFRNLVADRVPNYTSWSQHCPWEPQ
  KQPPWEFLQVLEPGARGLWKPPDIKGKLMVCYETLPRGQCLLYNWEEERATNHLDQVPSM
  QDGSESFFFRHGHRGLLTMQLKSPMPSSTTQKDSYQPPGNVYWPLRGKREAMLEMLLQHQ
  ICKEVQAEQEPTRKLFEVESVTHHDYRMELAQAGTPAPTKPHDYRQEQPETFWIQRAPQL
  PGVSNIRTLDTPFRKNCSFSTPVPLSLGKLLPYEPENYPYQLGEISSLPCPGGRLGGGGG
  RMTPF

• Sequence length: 485

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Frontotemporal Dementia	Associate	22343411	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	28797028	★☆☆☆☆ Found in Text Mining only