SMCP (sperm mitochondria associated cysteine rich protein)

Gene

• Entrez ID: 4184
• Gene name: Sperm mitochondria associated cysteine rich protein
• Gene symbol: SMCP
• Synonyms (NCBI Gene): HSMCSGEN1, MCS, MCSP
• Chromosome: 1
• Chromosome location: 1q21.3
• Summary: Sperm mitochondria differ in morphology and subcellular localization from those of somatic cells. They are elongated, flattened, and arranged circumferentially to form a helical coiled sheath in the midpiece of the sperm flagellum. The protein encoded by

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1372573	hsa-miR-1208	CLIP-seq
MIRT1372574	hsa-miR-34c-3p	CLIP-seq
MIRT1372575	hsa-miR-4799-5p	CLIP-seq
MIRT1372576	hsa-miR-522	CLIP-seq
MIRT1372577	hsa-miR-548a-3p	CLIP-seq
MIRT1372578	hsa-miR-548e	CLIP-seq
MIRT1372579	hsa-miR-548f	CLIP-seq
MIRT1372580	hsa-miR-570	CLIP-seq
MIRT1372581	hsa-miR-626	CLIP-seq
MIRT1372573	hsa-miR-1208	CLIP-seq
MIRT2628233	hsa-miR-1262	CLIP-seq
MIRT2628234	hsa-miR-1293	CLIP-seq
MIRT2628235	hsa-miR-4483	CLIP-seq
MIRT2628236	hsa-miR-4701-3p	CLIP-seq
MIRT1372576	hsa-miR-522	CLIP-seq
MIRT1372573	hsa-miR-1208	CLIP-seq
MIRT2628233	hsa-miR-1262	CLIP-seq
MIRT2628234	hsa-miR-1293	CLIP-seq
MIRT2628235	hsa-miR-4483	CLIP-seq
MIRT2628236	hsa-miR-4701-3p	CLIP-seq
MIRT1372576	hsa-miR-522	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16189514, 25416956, 31515488, 32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	ISS
GO:0007338	Process	Single fertilization	IEA
GO:0007341	Process	Penetration of zona pellucida	ISS
GO:0016020	Component	Membrane	IEA
GO:0030317	Process	Flagellated sperm motility	ISS
GO:0031966	Component	Mitochondrial membrane	IEA

Other IDs

• MIM: 601148
• HGNC: 6962
• e!Ensembl: ENSG00000163206

Protein

• UniProt ID: P49901
• Protein name: Sperm mitochondrial-associated cysteine-rich protein
• Protein function: Involved in sperm motility. Its absence is associated with genetic background dependent male infertility. Infertility may be due to reduced sperm motility in the female reproductive tract and inability to penetrate the oocyte zona pellucida (By
• Tissue specificity: TISSUE SPECIFICITY: Testis. Is selectively expressed in the spermatids of seminiferous tubules. {ECO:0000269|PubMed:8833144}.
• Sequence:

  MCDQTKHSKCCPAKGNQCCPPQQNQCCQSKGNQCCPPKQNQCCQPKGSQCCPPKHNHCCQ
  PKPPCCIQARCCGLETKPEVSPLNMESEPNSPQTQDKGCQTQQQPHSPQNESRPSK

• Sequence length: 116

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
ATOPIC ECZEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	3855666		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	3855666		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	31255504		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	27624747, 30302664, 31070268, 31428028, 31619069		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	27624747, 30302664, 31070268, 31428028, 31619069		★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	BEFREE	28128540		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	26717272		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	26717272		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	9790431		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	28091591		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	3855666		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	28682731		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	28601868		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	30945637		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	31722696		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	31692559		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	27624747, 28918761, 29620945, 29680420, 30049991, 30302664, 30587146, 31070268, 31140392, 31755818		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	31428028		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	31428028		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	31428028		★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	29278707		★☆☆☆☆ Found in Text Mining only
Freeman-Sheldon syndrome	Freeman-Sheldon Syndrome	BEFREE	29902472		★☆☆☆☆ Found in Text Mining only
Giant Cell Arteritis	Giant Cell Arteritis	BEFREE	30786937		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	30945637		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	33925174	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	31190776		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	28682731		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	28045352, 30406869		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28084722, 30612249, 31755818		★☆☆☆☆ Found in Text Mining only
Manic	Manic Disorder	BEFREE	28918761		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	19738072, 20309546, 21092273, 30769764, 31661001		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	27624747, 28918761, 29620945, 30049991, 30302664, 30587146, 31070268, 31140392, 31755818		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	30203163		★☆☆☆☆ Found in Text Mining only
Mixed anxiety and depressive disorder	Mixed Anxiety And Depressive Disorder	BEFREE	28898460, 31070268		★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	29278707		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	28084722		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	30909548		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	31692559		★☆☆☆☆ Found in Text Mining only
Prolactinoma	Prolactinoma	BEFREE	30548674		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	28898460		★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Restless Legs Syndrome	BEFREE	29680420		★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	BEFREE	28150503		★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	30213237		★☆☆☆☆ Found in Text Mining only
Submucous cleft palate	Submucosal cleft palate	BEFREE	14989693, 24437586		★☆☆☆☆ Found in Text Mining only
Ullrich congenital muscular dystrophy 1	Ullrich Congenital Muscular Dystrophy	BEFREE	16169245		★☆☆☆☆ Found in Text Mining only