Gene Gene information from NCBI Gene database.
Entrez ID 113746
Gene name Ciliary microtubule associated protein 1A
Gene symbol CIMAP1A
Synonyms (NCBI Gene)
CT135ODF3SHIPPO1TISP50
Chromosome 11
Chromosome location 11p15.5
miRNA miRNA information provided by mirtarbase database.
12
miRTarBase ID miRNA Experiments Reference
MIRT2455598 hsa-miR-1205 CLIP-seq
MIRT2455599 hsa-miR-146b-3p CLIP-seq
MIRT2455600 hsa-miR-1909 CLIP-seq
MIRT2455601 hsa-miR-1913 CLIP-seq
MIRT2455602 hsa-miR-3173-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
GO ID Ontology Definition Evidence Reference
GO:0001520 Component Outer dense fiber IBA
GO:0001520 Component Outer dense fiber IEA
GO:0005515 Function Protein binding IPI 23355646, 32296183
GO:0005737 Component Cytoplasm IEA
GO:0005856 Component Cytoskeleton IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608356 19905 ENSG00000177947
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96PU9
Protein name Ciliary microtubule associated protein 1A (Outer dense fiber of sperm tails protein 3) (Outer dense fiber protein 3) (Sperm tail protein SHIPPO 1) (Transcript induced in spermiogenesis protein 50)
Protein function Outer dense fibers are filamentous structures located on the outside of the axoneme in the midpiece and principal piece of the mammalian sperm tail. May help to maintain the passive elastic structures and elastic recoil of the sperm tail. {ECO:0
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07004 SHIPPO-rpt 25 60 Sperm-tail PG-rich repeat Repeat
PF07004 SHIPPO-rpt 100 131 Sperm-tail PG-rich repeat Repeat
PF07004 SHIPPO-rpt 136 170 Sperm-tail PG-rich repeat Repeat
PF07004 SHIPPO-rpt 215 245 Sperm-tail PG-rich repeat Repeat
Tissue specificity TISSUE SPECIFICITY: Testis-specific. {ECO:0000269|PubMed:11870087, ECO:0000269|Ref.2}.
Sequence
MTEEVWMGTWRPHRPRGPIMALYSSPGPKYLIPPTTGFMKHTPTKLRAPAYSFRGAPMLL
AENCSPGPRYNVNPKILRTGKDLGPAYSILGRYQTKTMLTPGPGDYFPEKSTKYVFDSAP
SHSISARTKAF
RVDSTPGPAAYMLPMVMGPNTVGKASQPSFSIKGRSKLGGFSDDLHKTP
GPAAYRQTDVRVTKFKAPQYTMAARVEPPGDKTLKPGPGAHSPEKVTLTKPCAPVVTFGI
KHSDY
MTPLLVDVE
Sequence length 254
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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 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
BENIGN PROSTATIC HYPERPLASIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of prostate Prostate adenocarcinoma BEFREE 23096689
★☆☆☆☆
Found in Text Mining only
Benign Prostatic Hyperplasia Benign Prostatic Hyperplasia GWASCAT_DG 30410027
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Carcinoma, Basal Cell Carcinoma BEFREE 19886887
★☆☆☆☆
Found in Text Mining only