ODF1 (outer dense fiber of sperm tails 1)

Gene

• Entrez ID: 4956
• Gene name: Outer dense fiber of sperm tails 1
• Gene symbol: ODF1
• Synonyms (NCBI Gene): CT133, HSPB10, ODF, ODF2, ODF27, ODFP, ODFPG, ODFPGA, ODFPGB, RT7, SODF
• Chromosome: 8
• Chromosome location: 8q22.3
• Summary: The outer dense fibers are cytoskeletal structures that surround the axoneme in the middle piece and principal piece of the sperm tail. The fibers function in maintaining the elastic structure and recoil of the sperm tail as well as in protecting the tail

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001520	Component	Outer dense fiber	IBA
GO:0002177	Component	Manchette	ISS
GO:0005515	Function	Protein binding	IPI	21597245, 25416956, 31515488, 32296183
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0031514	Component	Motile cilium	IEA
GO:0036126	Component	Sperm flagellum	ISS
GO:0042995	Component	Cell projection	IEA
GO:0099513	Component	Polymeric cytoskeletal fiber	IEA

Other IDs

• MIM: 182878
• HGNC: 8113
• e!Ensembl: ENSG00000155087

Protein

• UniProt ID: Q14990
• Protein name: Outer dense fiber protein 1 (Heat shock protein beta-10) (HspB10) (Heat shock protein family B member 10)
• Protein function: Component of the outer dense fibers (ODF) of spermatozoa. ODF are filamentous structures located on the outside of the axoneme in the midpiece and principal piece of the mammalian sperm tail and may help to maintain the passive elastic structure
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00011	HSP20	124 → 201	Hsp20/alpha crystallin family	Family

• Tissue specificity: TISSUE SPECIFICITY: Testis.
• Sequence:

  MAALSCLLDSVRRDIKKVDRELRQLRCIDEFSTRCLCDLYMHPYCCCDLHPYPYCLCYSK
  RSRSCGLCDLYPCCLCDYKLYCLRPSLRSLERKAIRAIEDEKRELAKLRRTTNRILASSC
  CSSNILGSVNVCGFEPDQVKVRVKDGKVCVSAERENRYDCLGSKKYSYMNICKEFSLPPC
  VDEKDVTYSYGLGSCVKIESPCYPCTSPCSPCSPCSPCNPCSPCNPCSPYDPCNPCYPCG
  SRFSCRKMIL

• Sequence length: 250

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 LYMPHOCYTIC LEUKEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLON CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLONIC NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of prostate	Prostate adenocarcinoma	BEFREE	23096689		★☆☆☆☆ Found in Text Mining only
Asthenozoospermia	Asthenozoospermia	BEFREE	31502483		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	37511188	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	20519666		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	20519666		★☆☆☆☆ Found in Text Mining only
Giant Cell Tumor of Bone	Giant cell tumor of bone	BEFREE	16024207		★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	27770032	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	23096689		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	24889268	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19886887		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	10693863		★☆☆☆☆ Found in Text Mining only
Skin Erosion	Skin Erosion	BEFREE	10693863		★☆☆☆☆ Found in Text Mining only