SPATC1L (spermatogenesis and centriole associated 1 like)

Gene

• Entrez ID: 84221
• Gene name: Spermatogenesis and centriole associated 1 like
• Gene symbol: SPATC1L
• Synonyms (NCBI Gene): C21orf56
• Chromosome: 21
• Chromosome location: 21q22.3

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT039588	hsa-miR-625-5p	CLASH	23622248

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005737	Component	Cytoplasm	IDA	31429579
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IBA
GO:0005813	Component	Centrosome	IEA
GO:0007283	Process	Spermatogenesis	IBA
GO:0007283	Process	Spermatogenesis	IEA
GO:0008154	Process	Actin polymerization or depolymerization	IEA
GO:0034237	Function	Protein kinase A regulatory subunit binding	IBA
GO:0034237	Function	Protein kinase A regulatory subunit binding	IEA
GO:0042802	Function	Identical protein binding	IPI	32296183
GO:0120212	Component	Sperm head-tail coupling apparatus	IBA
GO:0120212	Component	Sperm head-tail coupling apparatus	IEA
GO:0141163	Process	Positive regulation of cAMP/PKA signal transduction	IEA

Other IDs

• MIM: 612412
• HGNC: 1298
• e!Ensembl: ENSG00000160284

Protein

• UniProt ID: Q9H0A9
• Protein name: Speriolin-like protein (Spermatogenesis and centriole-associated protein 1-like protein)
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15058	Speriolin_N	1 → 153	Speriolin N terminus	Family
  PF15059	Speriolin_C	195 → 340	Speriolin C-terminus	Family

• Sequence:

  MAEGGELMSRLLSENADLKKQVRLLKENQMLRRLLSQSCQEGGGHDLLPPRAHAYPEAGS
  PGSGVPDFGRFTSVADTPSQLQTSSLEDLLCSHAPLSSEDDTSPGCAAPSQAPFKAFLSP
  PEPHSHRGTDRKLSPLLSPLQDSLVDKTLLEPREMVRPKKVCFSESSLPTGDRTRRSYYL
  NEIQSFAGAEKDARVVGEIAFQLDRRILAYVFPGVTRLYGFTVANIPEKIEQTSTKSLDG
  SVDERKLRELTQRYLALSARLEKLGYSRDVHPAFSEFLINTYGILKQRPDLRANPLHSSP
  AALRKLVIDVVPPKFLGDSLLLLNCLCELSKEDGKPLFAW

• Sequence length: 340

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
CHRONIC LARYNGITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING IMPAIRMENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING LOSS DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Aneurysm, Dissecting	Aortic Aneurysm	BEFREE	28339009		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic Aneurysm	BEFREE	28339009		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic aneurysm	Pubtator	28339009	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	28849223		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	28849223	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	30689816		★☆☆☆☆ Found in Text Mining only
Dissecting aortic aneurysm	Dissecting Aortic Aneurysm	BEFREE	28339009		★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	37625567	Associate	★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	34213489	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	30689816		★☆☆☆☆ Found in Text Mining only