CYLC1 (cylicin 1)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 1538
Gene name Cylicin 1
Gene symbol CYLC1
Synonyms (NCBI Gene)
CYCL1SPGFX8
Chromosome X
Chromosome location Xq21.1
Summary This gene encodes a sperm head cytoskeletal protein. The encoded protein is associated with the calyx of spermatozoa and spermatids. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (19)
GO ID Ontology Definition Evidence Reference
GO:0001675 Process Acrosome assembly IMP 38573307
GO:0005198 Function Structural molecule activity NAS 8354692
GO:0005200 Function Structural constituent of cytoskeleton IEA
GO:0005515 Function Protein binding IPI 38573307
GO:0005634 Component Nucleus HDA 21630459
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
300768 2582 ENSG00000183035
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P35663
Protein name Cylicin-1 (Cylicin I) (Multiple-band polypeptide I)
Protein function Plays a role in the establishment of normal sperm morphology during spermatogenesis and is required for acrosome attachment to the nuclear envelope.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15241 Cylicin_N 8 → 114 Cylicin N-terminus Family
Tissue specificity TISSUE SPECIFICITY: Testis. {ECO:0000269|PubMed:8354692}.
Sequence 
MSLPRLLKVNIRTYDNSIPISESSRKSWNQKHFALTFPKPLQRGTNDKSRPLKSQITVTR
HDKRKLEEGQKPAHKWIRHSFRKILQWPPIYTAAREQTPFRHLYTSKTHLKKAEYKKSKD
EKGGTPLKKDSKKKGGSYATNPESKQIVEEKTKRQNEADKTPLKSSHENEQSKKSKSSSE
TNPESQNSKTVSKNCSQKDKKDSKNSKKTNTEFLHTKNNPKKDLKRSKTSNDPISEICSE
NSLNVDFLMLVGQSDDESINFDAWLRNYSQNNSKNYSLKYTKYTKKDTKKNAKKSSDAES
EDSKDAKKDSKKVKKNVKKDDKKKDVKKDTESTDAESGDSKDERKDTKKDKKKLKKDDKK
KDTKKYPESTDTESGDAKDARNDSRNLKKASKNDDKKKDAKKITFSTDSESELESKESQK
DEKKDKKDSKTDNKKSVKNDEESTDADSEPKGDSKKGKKDEKKGKKDSKKDDKKKDAKKN
AESTEMESDLELKKDKKHSKEKKGSKKDIKKDARKDTESTDAEFDESSKTGFKTSTKIKG
SDTESEESLYKPGAKKKIDESDGTSANSKMEGLESKRGFRMSSKKTTFNEKGEKASTGRV
PPSREKPPLPACEPSLPSPKVRRLCWCKMPPPPPKPRYAPLPEAPWIHKLL
Sequence length 651
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Gene 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
Spermatogenic failure, X-linked, 8 risk factor ClinVar
ClinVar, Disgenet
ClinVar, Disgenet
★★★★★
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Show/Hide Text Mining Associations (3)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Acquired Immunodeficiency Syndrome Associate 19679225
★★★★★
★☆☆☆☆
Found in Text Mining only
Infertility Male Associate 36896575
★★★★★
★☆☆☆☆
Found in Text Mining only
Sleep Initiation and Maintenance Disorders Associate 27992416
★★★★★
★☆☆☆☆
Found in Text Mining only