SPECC1 (sperm antigen with calponin homology and coiled-coil domains 1)

Gene

• Entrez ID: 92521
• Gene name: Sperm antigen with calponin homology and coiled-coil domains 1
• Gene symbol: SPECC1
• Synonyms (NCBI Gene): CYTSB, HCMOGT-1, HCMOGT1, NSP, NSP5
• Chromosome: 17
• Chromosome location: 17p11.2
• Summary: The protein encoded by this gene belongs to the cytospin-A family. It is localized in the nucleus, and highly expressed in testis and some cancer cell lines. A chromosomal translocation involving this gene and platelet-derived growth factor receptor, beta

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020795	hsa-miR-155-5p	Proteomics	18668040
MIRT047508	hsa-miR-10a-5p	CLASH	23622248
MIRT045245	hsa-miR-186-5p	CLASH	23622248
MIRT709375	hsa-miR-6768-5p	HITS-CLIP	19536157
MIRT709374	hsa-miR-4438	HITS-CLIP	19536157
MIRT709373	hsa-miR-103b	HITS-CLIP	19536157
MIRT709372	hsa-miR-6499-3p	HITS-CLIP	19536157
MIRT709371	hsa-miR-6847-3p	HITS-CLIP	19536157
MIRT709370	hsa-miR-3135b	HITS-CLIP	19536157
MIRT709369	hsa-miR-504-3p	HITS-CLIP	19536157
MIRT709368	hsa-miR-122-5p	HITS-CLIP	19536157
MIRT709367	hsa-miR-3652	HITS-CLIP	19536157
MIRT709366	hsa-miR-4430	HITS-CLIP	19536157
MIRT709365	hsa-miR-143-5p	HITS-CLIP	19536157
MIRT709364	hsa-miR-377-3p	HITS-CLIP	19536157
MIRT709363	hsa-miR-5698	HITS-CLIP	19536157
MIRT653191	hsa-miR-449b-3p	HITS-CLIP	23824327
MIRT653190	hsa-miR-6871-5p	HITS-CLIP	23824327
MIRT653189	hsa-miR-4717-3p	HITS-CLIP	23824327
MIRT618402	hsa-miR-5007-5p	HITS-CLIP	23824327
MIRT618401	hsa-miR-3976	HITS-CLIP	23824327
MIRT618400	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT709375	hsa-miR-6768-5p	HITS-CLIP	19536157
MIRT709374	hsa-miR-4438	HITS-CLIP	19536157
MIRT709373	hsa-miR-103b	HITS-CLIP	19536157
MIRT709372	hsa-miR-6499-3p	HITS-CLIP	19536157
MIRT709371	hsa-miR-6847-3p	HITS-CLIP	19536157
MIRT709370	hsa-miR-3135b	HITS-CLIP	19536157
MIRT709369	hsa-miR-504-3p	HITS-CLIP	19536157
MIRT709368	hsa-miR-122-5p	HITS-CLIP	19536157
MIRT709367	hsa-miR-3652	HITS-CLIP	19536157
MIRT709366	hsa-miR-4430	HITS-CLIP	19536157
MIRT709365	hsa-miR-143-5p	HITS-CLIP	19536157
MIRT709364	hsa-miR-377-3p	HITS-CLIP	19536157
MIRT709363	hsa-miR-5698	HITS-CLIP	19536157
MIRT653191	hsa-miR-449b-3p	HITS-CLIP	23824327
MIRT653190	hsa-miR-6871-5p	HITS-CLIP	23824327
MIRT653189	hsa-miR-4717-3p	HITS-CLIP	23824327
MIRT618402	hsa-miR-5007-5p	HITS-CLIP	23824327
MIRT618401	hsa-miR-3976	HITS-CLIP	23824327
MIRT618400	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT1383538	hsa-miR-1184	CLIP-seq
MIRT1383539	hsa-miR-1205	CLIP-seq
MIRT1383540	hsa-miR-1231	CLIP-seq
MIRT1383541	hsa-miR-1343	CLIP-seq
MIRT1383542	hsa-miR-2116	CLIP-seq
MIRT1383543	hsa-miR-3157-5p	CLIP-seq
MIRT1383544	hsa-miR-3158-5p	CLIP-seq
MIRT1383545	hsa-miR-378g	CLIP-seq
MIRT1383546	hsa-miR-4288	CLIP-seq
MIRT1383547	hsa-miR-4418	CLIP-seq
MIRT1383548	hsa-miR-4427	CLIP-seq
MIRT1383549	hsa-miR-4437	CLIP-seq
MIRT1383550	hsa-miR-4674	CLIP-seq
MIRT1383551	hsa-miR-4677-5p	CLIP-seq
MIRT1383552	hsa-miR-4680-3p	CLIP-seq
MIRT1383553	hsa-miR-4691-3p	CLIP-seq
MIRT1383554	hsa-miR-509-3-5p	CLIP-seq
MIRT1383555	hsa-miR-509-5p	CLIP-seq
MIRT1383556	hsa-miR-544	CLIP-seq
MIRT1383557	hsa-miR-632	CLIP-seq
MIRT1383558	hsa-miR-1273f	CLIP-seq
MIRT1383559	hsa-miR-150	CLIP-seq
MIRT1383560	hsa-miR-3138	CLIP-seq
MIRT1383561	hsa-miR-3942-3p	CLIP-seq
MIRT1383562	hsa-miR-4491	CLIP-seq
MIRT1383563	hsa-miR-4657	CLIP-seq
MIRT1383564	hsa-miR-4698	CLIP-seq
MIRT1383565	hsa-miR-4733-5p	CLIP-seq
MIRT1383566	hsa-miR-4800-5p	CLIP-seq
MIRT1383567	hsa-miR-515-5p	CLIP-seq
MIRT1383568	hsa-miR-518d-5p	CLIP-seq
MIRT1383569	hsa-miR-519b-5p	CLIP-seq
MIRT1383570	hsa-miR-519c-5p	CLIP-seq
MIRT1383571	hsa-miR-520c-5p	CLIP-seq
MIRT1383572	hsa-miR-526a	CLIP-seq
MIRT1383573	hsa-miR-579	CLIP-seq
MIRT1383574	hsa-miR-604	CLIP-seq
MIRT1383575	hsa-miR-647	CLIP-seq
MIRT2631087	hsa-miR-320e	CLIP-seq
MIRT2631087	hsa-miR-320e	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001650	Component	Fibrillar center	IDA
GO:0001824	Process	Blastocyst development	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005815	Component	Microtubule organizing center	IBA
GO:0005829	Component	Cytosol	IDA
GO:0008306	Process	Associative learning	IEA
GO:0016020	Component	Membrane	IEA
GO:0030036	Process	Actin cytoskeleton organization	IBA
GO:0031941	Component	Filamentous actin	IBA
GO:0045177	Component	Apical part of cell	IEA

Other IDs

• MIM: 608793
• HGNC: 30615
• e!Ensembl: ENSG00000128487

Protein

• UniProt ID: Q5M775
• Protein name: Cytospin-B (Nuclear structure protein 5) (NSP5) (Sperm antigen HCMOGT-1) (Sperm antigen with calponin homology and coiled-coil domains 1)
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00307	CH	962 → 1068	Calponin homology (CH) domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in testis. Barely detectable in other tissues. Also highly expressed in some cancer cell lines. {ECO:0000269|PubMed:15602574}.
• Sequence:

  MRSAAKPWNPAIRAGGHGPDRVRPLPAASSGMKSSKSSTSLAFESRLSRLKRASSEDTLN
  KPGSTAASGVVRLKKTATAGAISELTESRLRSGTGAFTTTKRTGIPAPREFSVTVSRERS
  VPRGPSNPRKSVSSPTSSNTPTPTKHLRTPSTKPKQENEGGEKAALESQVRELLAEAKAK
  DSEINRLRSELKKYKEKRTLNAEGTDALGPNVDGTSVSPGDTEPMIRALEEKNKNFQKEL
  SDLEEENRVLKEKLIYLEHSPNSEGAASHTGDSSCPTSITQESSFGSPTGNQMSSDIDEY
  KKNIHGNALRTSGSSSSDVTKASLSPDASDFEHITAETPSRPLSSTSNPFKSSKCSTAGS
  SPNSVSELSLASLTEKIQKMEENHHSTAEELQATLQELSDQQQMVQELTAENEKLVDEKT
  ILETSFHQHRERAEQLSQENEKLMNLLQERVKNEEPTTQEGKIIELEQKCTGILEQGRFE
  REKLLNIQQQLTCSLRKVEEENQGALEMIKRLKEENEKLNEFLELERHNNNMMAKTLEEC
  RVTLEGLKMENGSLKSHLQGEKQKATEASAVEQTAESCEVQEMLKVARAEKDLLELSCNE
  LRQELLKANGEIKHVSSLLAKVEKDYSYLKEICDHQAEQLSRTSLKLQEKASESDAEIKD
  MKETIFELEDQVEQHRAVKLHNNQLISELESSVIKLEEQKSDLERQLKTLTKQMKEETEE
  WRRFQADLQTAVVVANDIKCEAQQELRTVKRKLLEEEEKNARLQKELGDVQGHGRVVTSR
  AAPPPVDEEPESSEVDAAGRWPGVCVSRTSPTPPESATTVKSLIKSFDLGRPGGAGQNIS
  VHKTPRSPLSGIPVRTAPAAAVSPMQRHSTYSSVRPASRGVTQRLDLPDLPLSDILKGRT
  ETLKPDPHLRKSPSLESLSRPPSLGFGDTRLLSASTRAWKPQSKLSVERKDPLAALAREY
  GGSKRNALLKWCQKKTQGYANIDITNFSSSWSDGLAFCALLHTYLPAHIPYQELNSQEKK
  RNLLLAFEAAESVGIKPSLELSEMLYTDRPDWQSVMQYVAQIYKYFET

• Sequence length: 1068

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Myoepithelial tumor	Likely pathogenic	rs2544718723	RCV002463885	★★★★☆ 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
ENDOMETRIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Carcinoma	Breast Carcinoma	BEFREE	17427198		★☆☆☆☆ Found in Text Mining only
Bronchitis	Bronchitis	BEFREE	28223026		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	8062278		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	30376358		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	31679961		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	9103247		★☆☆☆☆ Found in Text Mining only
Deuteranomaly	Deuteranomaly	BEFREE	14507342		★☆☆☆☆ Found in Text Mining only
Diarrhea	Diarrhea	Pubtator	25121549	Associate	★☆☆☆☆ Found in Text Mining only
ESTROGEN RESISTANCE	Estrogen Resistance	BEFREE	17427198		★☆☆☆☆ Found in Text Mining only
Fibromuscular Dysplasia	Fibromuscular Dysplasia	BEFREE	29428400		★☆☆☆☆ Found in Text Mining only
FRONTOMETAPHYSEAL DYSPLASIA 1	Frontometaphyseal Dysplasia	BEFREE	29428400		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	32852391	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	21155030		★☆☆☆☆ Found in Text Mining only
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	BEFREE	15087372		★☆☆☆☆ Found in Text Mining only
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	LHGDN	15087372		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	8062278		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	17427198		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of large intestine	Colorectal Neoplasms	BEFREE	9103247		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	30376358		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	31349968		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	31172693		★☆☆☆☆ Found in Text Mining only
Muscular Atrophy Spinal	Spinal muscular atrophy	Pubtator	23299920	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Facioscapulohumeral	Facioscapulohumeral Muscular Dystrophy	BEFREE	29428400		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28450698, 30376358		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	30376358		★☆☆☆☆ Found in Text Mining only
Progressive supranuclear palsy	Progressive Supranuclear Palsy	BEFREE	14507342		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	31128604		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	26198764, 28991256, 30285260		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe Acute Respiratory Syndrome	Severe Acute Respiratory Syndrome	BEFREE	15899130, 15999208		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	8062278		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	31349968		★☆☆☆☆ Found in Text Mining only