Q14990 (ODFP1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 85.
History...
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Outer dense fiber protein 1 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 250 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at transcript level |
General annotation (Comments)
| 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 structures and elastic recoil of the sperm tail. |
| Subunit structure | Interacts with SPAG4 and KLC3 By similarity. |
| Tissue specificity | Testis. |
| Domain | The C-terminal contains many C-X-P repeats. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Differentiation Spermatogenesis |
| Coding sequence diversity | Polymorphism |
| Domain | Repeat |
| Molecular function | Developmental protein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological process | cell differentiation Inferred from electronic annotation. Source: UniProtKB-KW multicellular organismal developmentInferred from electronic annotation. Source: UniProtKB-KW spermatogenesisNon-traceable author statement. Source: UniProtKB |
| Cellular component | outer dense fiber Non-traceable author statement. Source: UniProtKB |
| Molecular function | structural molecule activity Non-traceable author statement. Source: UniProtKB |
| Complete GO annotation... | |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 250 | 250 | Outer dense fiber protein 1 | PRO_0000058024 | |||||
Regions | |||||||||
| Repeat | 34 – 38 | 5 | 1 | ||||||
| Repeat | 73 – 77 | 5 | 2 | ||||||
| Region | 34 – 77 | 44 | 2 X 5 AA repeats of [RC]-C-L-C-D | ||||||
| Region | 209 – 238 | 30 | C-X-P repeat region | ||||||
Natural variations | |||||||||
| Natural variant | 216 | 1 | S → N. Ref.2 Ref.3 Corresponds to variant rs2916569 [ dbSNP | Ensembl ]. | VAR_031684 | |||||
| Natural variant | 219 – 227 | 9 | Missing. | VAR_005523 | |||||
| Natural variant | 243 | 1 | F → L. Corresponds to variant rs11995900 [ dbSNP | Ensembl ]. | VAR_051251 | |||||
Experimental info | |||||||||
| Sequence conflict | 143 | 1 | V → L in M93131. Ref.1 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Sequence, expression, and chromosomal assignment of a human sperm outer dense fiber gene." Gastmann O., Burfeind P., Gunther E., Hameister H., Szpirer C., Hoyer-Fender S. Mol. Reprod. Dev. 36:407-418(1993) [PubMed: 8305202] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]. Tissue: Sperm. |
| [2] | "A homozygous deletion of 27 basepairs in the coding region of the human outer dense fiber protein gene does not result in a pathologic phenotype." Hofferbert S., Burfeind P., Hoyer-Fender S., Lange R., Haidl G., Engel W. Hum. Mol. Genet. 2:2167-2170(1993) [PubMed: 8111388] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS ASN-216 AND 219-ASN--CYS-227 DEL. |
| [3] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ASN-216. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | M93131 Genomic DNA. No translation available. X74614 Genomic DNA. Translation: CAA52685.1. BC104456 mRNA. Translation: AAI04457.1. BC104457 mRNA. Translation: AAI04458.1. |
| IPI | IPI00001677. |
| PIR | S71522. |
| RefSeq | NP_077721.2. NM_024410.3. |
| UniGene | Hs.159274. |
3D structure databases | |
| ProteinModelPortal | Q14990. |
| SMR | Q14990. Positions 122-203. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | Q14990. |
PTM databases | |
| PhosphoSite | Q14990. |
Polymorphism databases | |
| DMDM | 145559511. |
Proteomic databases | |
| PRIDE | Q14990. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000285402; ENSP00000285402; ENSG00000155087. |
| GeneID | 4956. |
| KEGG | hsa:4956. |
| NMPDR | fig|9606.3.peg.30612. |
| UCSC | uc003ykt.1. human. |
Organism-specific databases | |
| CTD | 4956. |
| GeneCards | GC08P103633. |
| H-InvDB | HIX0034374. |
| HGNC | HGNC:8113. ODF1. |
| MIM | 182878. gene. |
| neXtProt | NX_Q14990. |
| PharmGKB | PA31901. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG18161. |
| GeneTree | ENSGT00440000038909. |
| HOGENOM | HBG282441. |
| HOVERGEN | HBG007863. |
| InParanoid | Q14990. |
| OMA | SCGLCDL. |
| OrthoDB | EOG4SXNDJ. |
| PhylomeDB | Q14990. |
Gene expression databases | |
| ArrayExpress | Q14990. |
| Bgee | Q14990. |
| CleanEx | HS_ODF1. |
| Genevestigator | Q14990. |
| GermOnline | ENSG00000155087. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR002068. Hsp20. [Graphical view] |
| Pfam | PF00011. HSP20. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| SOURCE | Search... |
Entry information
| Entry name | ODFP1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q14990 Secondary accession number(s): Q3SX72 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 8 Human chromosome 8: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |

Clusters with