Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	6674
Gene name	Sperm associated antigen 1
Gene symbol	SPAG1
Synonyms (NCBI Gene)	CILD28CT140DNAAF13HEL-S-268HSD-3.8SP75TPIS
Chromosome	8
Chromosome location	8q22.2
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

Show/Hide all (12)

SNP ID	Visualize variation	Clinical significance	Consequence
rs201740530	C>T	Pathogenic	Non coding transcript variant, stop gained, intron variant, coding sequence variant, genic downstream transcript variant
rs397518458	T>G	Pathogenic	Non coding transcript variant, missense variant, initiator codon variant, intron variant
rs397518459	G>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs751845138	GAGTA>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs752479330	A>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, 5 prime UTR variant
rs763569711	->A	Pathogenic	Frameshift variant, intron variant, non coding transcript variant, coding sequence variant
rs797045149	AAGTA>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1060503104	G>A	Likely-pathogenic	Splice donor variant, intron variant
rs1060503107	GA>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs1229952265	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1275662909	C>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, 5 prime UTR variant
rs1563815206	TA>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, inframe indel, stop gained, intron variant

Show/Hide all (59)

miRTarBase ID	miRNA	Experiments	Reference
MIRT020441	hsa-miR-106b-5p	Microarray	17242205
MIRT027357	hsa-miR-101-3p	Sequencing	20371350
MIRT029638	hsa-miR-26b-5p	Microarray	19088304
MIRT027357	hsa-miR-101-3p	PAR-CLIP	20371350
MIRT561142	hsa-miR-144-3p	PAR-CLIP	20371350
MIRT223311	hsa-miR-545-5p	PAR-CLIP	20371350
MIRT027357	hsa-miR-101-3p	PAR-CLIP	20371350
MIRT561141	hsa-miR-582-5p	PAR-CLIP	20371350
MIRT027357	hsa-miR-101-3p	PAR-CLIP	20371350
MIRT561142	hsa-miR-144-3p	PAR-CLIP	20371350
MIRT223311	hsa-miR-545-5p	PAR-CLIP	20371350
MIRT027357	hsa-miR-101-3p	PAR-CLIP	20371350
MIRT561141	hsa-miR-582-5p	PAR-CLIP	20371350
MIRT1381667	hsa-miR-105	CLIP-seq
MIRT1381668	hsa-miR-1273g	CLIP-seq
MIRT1381669	hsa-miR-129-5p	CLIP-seq
MIRT1381670	hsa-miR-140-5p	CLIP-seq
MIRT1381671	hsa-miR-3689d	CLIP-seq
MIRT1381672	hsa-miR-374c	CLIP-seq
MIRT1381673	hsa-miR-4802-5p	CLIP-seq
MIRT1381674	hsa-miR-655	CLIP-seq
MIRT1381675	hsa-miR-1271	CLIP-seq
MIRT1381676	hsa-miR-1305	CLIP-seq
MIRT1381677	hsa-miR-182	CLIP-seq
MIRT1381678	hsa-miR-2115	CLIP-seq
MIRT1381679	hsa-miR-2116	CLIP-seq
MIRT1381680	hsa-miR-28-5p	CLIP-seq
MIRT1381681	hsa-miR-3065-5p	CLIP-seq
MIRT1381682	hsa-miR-3130-5p	CLIP-seq
MIRT1381683	hsa-miR-3139	CLIP-seq
MIRT1381684	hsa-miR-3529	CLIP-seq
MIRT1381685	hsa-miR-3613-3p	CLIP-seq
MIRT1381686	hsa-miR-3689a-5p	CLIP-seq
MIRT1381687	hsa-miR-3689b	CLIP-seq
MIRT1381688	hsa-miR-3689e	CLIP-seq
MIRT1381689	hsa-miR-3689f	CLIP-seq
MIRT1381690	hsa-miR-369-3p	CLIP-seq
MIRT1381691	hsa-miR-374a	CLIP-seq
MIRT1381692	hsa-miR-374b	CLIP-seq
MIRT1381693	hsa-miR-375	CLIP-seq
MIRT1381694	hsa-miR-379	CLIP-seq
MIRT1381695	hsa-miR-421	CLIP-seq
MIRT1381696	hsa-miR-4273	CLIP-seq
MIRT1381697	hsa-miR-4423-3p	CLIP-seq
MIRT1381698	hsa-miR-4451	CLIP-seq
MIRT1381699	hsa-miR-4482	CLIP-seq
MIRT1381700	hsa-miR-4536	CLIP-seq
MIRT1381701	hsa-miR-4650-3p	CLIP-seq
MIRT1381702	hsa-miR-4677-5p	CLIP-seq
MIRT1381703	hsa-miR-4690-5p	CLIP-seq
MIRT1381704	hsa-miR-4796-3p	CLIP-seq
MIRT1381705	hsa-miR-505	CLIP-seq
MIRT1381706	hsa-miR-516a-3p	CLIP-seq
MIRT1381707	hsa-miR-548t	CLIP-seq
MIRT1381708	hsa-miR-570	CLIP-seq
MIRT1381709	hsa-miR-708	CLIP-seq
MIRT1381710	hsa-miR-944	CLIP-seq
MIRT1381711	hsa-miR-96	CLIP-seq
MIRT1553946	hsa-miR-205	CLIP-seq

Show/Hide all (15)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0005525	Function	GTP binding	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	16983343
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005929	Component	Cilium	IDA
GO:0007338	Process	Single fertilization	IEA
GO:0007338	Process	Single fertilization	TAS	1299558
GO:0016787	Function	Hydrolase activity	IEA
GO:0050821	Process	Protein stabilization	NAS	29844425
GO:0070286	Process	Axonemal dynein complex assembly	ISS
GO:0101031	Component	Protein folding chaperone complex	IPI	29844425
GO:0120293	Component	Dynein axonemal particle	IEA

MIM	HGNC	e!Ensembl
603395	11212	ENSG00000104450

Q07617

Protein name

Sperm-associated antigen 1 (HSD-3.8) (Infertility-related sperm protein Spag-1)

Protein function

May play a role in the cytoplasmic assembly of the ciliary dynein arms (By similarity). May play a role in fertilization. Binds GTP and has GTPase activity.

PDB

6I57 , 7BEV

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00515	TPR_1	657 → 690	Tetratricopeptide repeat	Repeat
PF13877	RPAP3_C	802 → 894	Potential Monad-binding region of RPAP3	Domain

Tissue specificity

TISSUE SPECIFICITY: Present in most tissues, including lung, with the strongest expression in brain, colon, kidney, and testis. In sperm and testis, detected in particular in pachytene primary spermatocytes. Up-regulated in pancreatic tumor tissues and no

Sequence

MTTKDYPSLWGFGTTKTFKIPIEHLDFKYIEKCSDVKHLEKILCVLRSGEEGYYPELTEF
CEKHLQALAPESRALRKDKPAATAASFTAEEWEKIDGDIKSWVSEIKKEEDKMHFHETET
FPAMKDNLPPVRGSNSCLHVGKEKYSKRPTKKKTPRDYAEWDKFDVEKECLKIDEDYKEK
TVIDKSHLSKIETRIDTAGLTEKEKDFLATREKEKGNEAFNSGDYEEAVMYYTRSISALP
TVVAYNNRAQAEIKLQNWNSAFQDCEKVLELEPGNVKALLRRATTYKHQNKLREATEDLS
KVLDVEPDNDLAKKTLSEVERDLKNSEAASETQTKGKRMVIQEIENSEDEEGKSGRKHED
GGGDKKPAEPAGAARAAQPCVMGNIQKKLTGKAEGGKRPARGAPQRGQTPEAGADKRSPR
RASAAAAAGGGATGHPGGGQGAENPAGLKSQGNELFRSGQFAEAAGKYSAAIALLEPAGS
EIADDLSILYSNRAACYLKEGNCSGCIQDCNRALELHPFSMKPLLRRAMAYETLEQYGKA
YVDYKTVLQIDCGLQLANDSVNRLSRILMELDGPNWREKLSPIPAVPASVPLQAWHPAKE
MISKQAGDSSSHRQQGITDEKTFKALKEEGNQCVNDKNYKDALSKYSECLKINNKECAIY
TNRALCYLKLCQFEEAKQDCDQALQLADGNVKAFYRRALAHKGLKNYQKSLIDLNKVILL
DPSIIEAKMELEEVTRLLNLKDKTAPFNKEKERRKIEIQEVNEGKEEPGRPAGEVSMGCL
ASEKGGKSSRSPEDPEKLPIAKPNNAYEFGQIINALSTRKDKEACAHLLAITAPKDLPMF
LSNKLEGDTFLLLIQSLKNNLIEKDPSLVYQHLLYLSKAERFKMMLTLISKGQKELIEQL
FEDLSDTPNNHFTLEDIQALKRQYEL

Sequence length

926

Interactions

View interactions

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)

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal dominant nocturnal frontal lobe epilepsy 5	Pathogenic; Likely pathogenic	rs397518459, rs201740530, rs886037653	RCV000074365 RCV000074366 RCV000074367	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Kartagener syndrome	Likely pathogenic; Pathogenic	rs201740530	RCV000190929	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary ciliary dyskinesia	Pathogenic; Likely pathogenic	rs770777381, rs1244721341, rs918324226, rs2489308738, rs751845138, rs201740530, rs934869420	RCV002386562 RCV001849570 RCV002383021 RCV002435790 RCV005268630 RCV001255310 RCV001255266 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary ciliary dyskinesia 28	Pathogenic; Likely pathogenic	rs2132258789, rs1819149009, rs1434601711, rs771209739, rs1244721341, rs1330765503, rs1818457032, rs2132442885, rs2132289617, rs918324226, rs973819096, rs751103088, rs1816195552, rs1254678434, rs2489513250 View all (27 more)	RCV001383103 RCV001390849 RCV002568301 RCV001785013 RCV001785014 View all (38 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SPAG1-related disorder	Pathogenic; Likely pathogenic	rs918324226, rs757398573, rs763569711	RCV004756396 RCV004756545 RCV004755924	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (24)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY DYSKINESIA, PRIMARY, 28	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY MOTILITY DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX REGIONAL PAIN SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ATRESIA OF NASOPHARYNX	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, NOCTURNAL FRONTAL LOBE, 5	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTERSTITIAL LUNG DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	-; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (45)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	16983343		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	40183343	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthenozoospermia	Asthenozoospermia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bronchitis, Chronic	Gastric Cancer	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Embryonal	Embryonal carcinoma	Pubtator	17993720	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic otitis media	Otitis media	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic sinusitis	Sinusitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus	Ciliary Dyskinesia	ORPHANET_DG	24055112		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus	Ciliary Dyskinesia	CLINVAR_DG	24055112		★★★★★ ★☆☆☆☆ Found in Text Mining only
CILIARY DYSKINESIA, PRIMARY, 28	Ciliary dyskinesia	GENOMICS_ENGLAND_DG	24055112		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY DYSKINESIA, PRIMARY, 28	Ciliary dyskinesia	CLINVAR_DG	24055112, 26228299, 27637300		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY DYSKINESIA, PRIMARY, 28	Ciliary dyskinesia	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliary Motility Disorders	Ciliary dyskinesia	Pubtator	33577779, 33739091, 35178554	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliary Motility Disorders	Ciliary dyskinesia	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conductive hearing loss	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital absence of spleen	Asplenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Corneal dystrophy	Corneal Dystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	39411815	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPSY, NOCTURNAL FRONTAL LOBE, 5	Epilepsy	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal Cortical Dysplasia	Focal cortical dysplasia	Pubtator	38491953	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	35178554	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kartagener Syndrome	Kartagener Syndrome	BEFREE	24055112		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Kartagener Syndrome	Kartagener Syndrome	ORPHANET_DG	24055112		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	35227274	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	35178554	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases, Obstructive	Lung Diseases	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	33883344	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nasal Polyps	Nasal polyposis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16983343		★★★★★ ★☆☆☆☆ Found in Text Mining only
Otitis Media with Effusion	Otitis media	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polynesian Bronchiectasis	Kartagener syndrome	ORPHANET_DG	24055112		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary Ciliary Dyskinesia	Ciliary dyskinesia	BEFREE	24055112		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary Ciliary Dyskinesia	Ciliary dyskinesia	ORPHANET_DG	24055112		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary ciliary dyskinesia	Ciliary dyskinesia	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	32619574	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Recurrent otitis media	Otitis media	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Recurrent sinusitis	Sinusitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhinitis	Rhinitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	Pubtator	17993720	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Situs inversus totalis	Situs Inversus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

SPAG1 (sperm associated antigen 1)