SPEM1 (spermatid maturation 1)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 374768
Gene name Spermatid maturation 1
Gene symbol SPEM1
Synonyms (NCBI Gene)
C17orf83
Chromosome 17
Chromosome location 17p13.1
miRNA miRNA information provided by mirtarbase database.
30
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (30)
miRTarBase ID miRNA Experiments Reference
MIRT698926 hsa-miR-4698 HITS-CLIP 23313552
MIRT698927 hsa-miR-186-3p HITS-CLIP 23313552
MIRT698925 hsa-miR-1234-3p HITS-CLIP 23313552
MIRT698924 hsa-miR-7107-5p HITS-CLIP 23313552
MIRT698923 hsa-miR-150-5p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (11)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 28514442, 33961781
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IEA
GO:0007283 Process Spermatogenesis IEA
GO:0007283 Process Spermatogenesis IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
615116 32429 ENSG00000181323
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N4L4
Protein name Spermatid maturation protein 1
Protein function Required for proper cytoplasm removal during spermatogenesis.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15670 Spem1 11 → 148 Spermatid maturation protein 1 Family
Sequence 
MAMVERPRPEWASYHNCNSNSCQDLGNSVLLLLGLIICINISINIVTLLWSRFRGVLYQV
FHDTICEKEAPKSSLLRKQTQPPKKQSSPAVHLRCTMDPVMMTVSPPPAHRHRRRGSPTR
CAHCPVAWAPDTDDEKPHQYPAICSYHWDVPEDWEGFQHTQGTWVPWSQDAPESPPQTIR
FQPTVEERPLKTGIWSELGLRAYVYPVNPPPPSPEAPSHKNGGEGAVPEAEAAQYQPVPA
PTLGPAVIPEFSRHRSSGRIVYDARDMRRRLRELTREVEALSGCYPLASGSSTAEETSKN
WVYRSLTGR
Sequence length 309
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Gene miRNA Gene ontology Other IDs Protein 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)
Show/Hide Unknown Diseases (1)
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.
Phenotype Name Clinical Significance Source Evidence Score
ASTHMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (4)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Azoospermia Nonobstructive Associate 30054974
★★★★★
★☆☆☆☆
Found in Text Mining only
Infertility Associate 36896575
★★★★★
★☆☆☆☆
Found in Text Mining only
Infertility Male Associate 36896575
★★★★★
★☆☆☆☆
Found in Text Mining only
Warburg Sjo Fledelius syndrome Associate 30054974
★★★★★
★☆☆☆☆
Found in Text Mining only