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

579

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
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
Kartagener syndrome	Likely pathogenic; Pathogenic	rs201740530	RCV000190929
Primary ciliary dyskinesia	Pathogenic; Likely pathogenic	rs770777381, rs1244721341, rs918324226, rs2489308738, rs751845138, rs201740530, rs934869420	RCV002386562 RCV001849570 RCV002383021 RCV002435790 RCV005268630 RCV001255310 RCV001255266
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 RCV001973781 RCV001993386 RCV001969843 RCV001910058 RCV005097396 RCV003062365 RCV002591755 RCV002626441 RCV002705899 RCV002795978 RCV002861610 RCV002922654 RCV002928953 RCV003037764 RCV003741495 RCV003741772 RCV003741037 RCV003741071 RCV003815962 RCV003990736 RCV000458533 RCV000468151 RCV000468769 RCV000477336 RCV001270130 RCV000538474 RCV000541958 RCV000651832 RCV000697113 RCV000802804 RCV001052571 RCV001052572 RCV001202736 RCV001204513 RCV000074363 RCV000556639 RCV001058984 RCV001234647
SPAG1-related disorder	Pathogenic; Likely pathogenic	rs918324226, rs757398573, rs763569711	RCV004756396 RCV004756545 RCV004755924

Show/Hide Unknown Diseases (19)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Likely benign; Benign	rs117367516, rs150879383, rs112884253, rs35305781, rs117747863	RCV005916048 RCV005923732 RCV005899596 RCV005899595 RCV005899586
Cervical cancer	Benign	rs150879383, rs112884253	RCV005923734 RCV005899598
Cholangiocarcinoma	Benign	rs62532740	RCV005918398
Clear cell carcinoma of kidney	Benign; Likely benign	rs117747863	RCV005899589
Colorectal cancer	Benign; Likely benign	rs117747863	RCV005899590
Familial cancer of breast	Benign; Likely benign	rs117747863	RCV005899585
Gastric cancer	Uncertain significance; Benign; Likely benign	rs142674953, rs117747863	RCV005899499 RCV005899591
Hepatocellular carcinoma	Benign; Likely benign	rs117747863	RCV005899587
Lung cancer	Benign; Likely benign	rs150879383, rs112884253, rs117747863	RCV005923737 RCV005899601 RCV005899594
Lymphoma	Uncertain significance	rs758568364	RCV005925473
Malignant lymphoma, large B-cell, diffuse	Benign	rs62532740	RCV005918397
Malignant tumor of esophagus	Benign; Likely benign	rs150879383, rs112884253, rs117747863	RCV005923733 RCV005899597 RCV005899588
Melanoma	-; Benign; Likely benign	rs1819228311, rs117747863	RCV006006269 RCV005899593
Ovarian serous cystadenocarcinoma	Benign	rs150879383, rs112884253	RCV005923736 RCV005899599
Sarcoma	Benign	rs150879383	RCV005923735
See cases	Uncertain significance	rs201109236	RCV003128498
Thymoma	Benign	rs112884253	RCV005899600
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	rs117747863	RCV005899592
Uterine corpus endometrial carcinoma	Benign	rs112884253	RCV005899602

Show/Hide Text Mining Associations (16)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alzheimer Disease	Associate	40183343
Carcinoma Embryonal	Associate	17993720
Ciliary Motility Disorders	Associate	33577779, 33739091, 35178554
Endometriosis	Associate	39411815
Fetal Growth Retardation	Associate	29241932
Focal Cortical Dysplasia	Associate	38491953
Genetic Diseases Inborn	Associate	29241932
Infertility	Associate	35178554
Laterality Defects Autosomal Dominant	Associate	35178554
Leukemia Myeloid Acute	Associate	35227274
Lung Diseases	Associate	35178554
Lymphoma	Associate	33883344
Lymphoma B Cell	Associate	33883344
Prostatic Neoplasms	Associate	32619574
Seminoma	Associate	17993720
Tertiary Lymphoid Structures	Associate	32619574

SPAG1 (sperm associated antigen 1)