Reviewed,
UniProtKB/Swiss-Prot Q3SXM5 (HSDL1_HUMAN)
Last modified
July 7, 2009.
Version 40.
History...
Clusters with 100%,
90%,
50% identity |
Documents (4) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Hydroxysteroid dehydrogenase-like protein 1 | ||
| Gene names |
| ||
| Organism | Homo sapiens (Human) [Complete proteome] | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 330 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Tissue specificity | Highly expressed in testis and ovary. Also detected in thyroid, spinal cord, adrenal gland, heart, placenta, skeletal muscle and pancreas. Ref.1 |
| Sequence similarities | Belongs to the short-chain dehydrogenases/reductases (SDR) family. 17-beta-HSD 3 subfamily. |
| Caution | Although related to the SDR family, lacks the conserved active Tyr residue in position 218 which is replaced by a Phe, suggesting that it may lack oxidoreductase activity. |
Ontologies
| Keywords | |
|---|---|
| Coding sequence diversity | Polymorphism |
| Ligand | NADP |
| PTM | Acetylation |
| Technical term | Complete proteome Direct protein sequencing |
| Gene Ontology (GO) | |
| Biological process | metabolic process Inferred from electronic annotation. Source: InterPro |
| Molecular function | oxidoreductase activity Inferred from electronic annotation. Source: InterPro protein bindingInferred from physical interaction. Source: IntAct |
| Complete GO annotation... | |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Initiator methionine | 1 | 1 | Removed Ref.5 | ||||||
| Chain | 2 – 330 | 329 | Hydroxysteroid dehydrogenase-like protein 1 | PRO_0000313671 | |||||
Regions | |||||||||
| Nucleotide binding | 67 – 96 | 30 | NADP Potential | ||||||
Amino acid modifications | |||||||||
| Modified residue | 2 | 1 | N-acetylalanine Ref.5 | ||||||
Natural variations | |||||||||
| Natural variant | 248 | 1 | P → S: dbSNP rs11540436. | VAR_037693 | |||||
| Natural variant | 327 | 1 | C → S: dbSNP rs4378600. Ref.2 Ref.3 Ref.4 | VAR_037694 | |||||
Experimental info | |||||||||
| Sequence conflict | 1 | 1 | M → V in AAK15047. Ref.1 | ||||||
| Sequence conflict | 1 | 1 | M → V in AAK16927. Ref.1 | ||||||
| Sequence conflict | 222 | 1 | K → R in AAI04220. Ref.4 | ||||||
| Sequence conflict | 222 | 1 | K → R in AAI06918. Ref.4 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "A novel human hydroxysteroid dehydrogenase like 1 gene (HSDL1) is highly expressed in reproductive tissues." Huang Y., Tang R., Dai J., Gu S., Zhao W., Cheng C., Xu M., Zhou Z., Ying K., Xi Y., Mao Y. Mol. Biol. Rep. 28:185-191(2001) [PubMed: 12153137] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY. Tissue: Fetal brain. |
| [2] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT SER-327. |
| [3] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT SER-327. |
| [4] | "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 SER-327. |
| [5] | Bienvenut W.V., Preisinger C., Kolch W. Submitted (JUL-2008) to UniProtKB Cited for: PROTEIN SEQUENCE OF 2-12 AND 91-99, CLEAVAGE OF INITIATOR METHIONINE, ACETYLATION AT ALA-2, MASS SPECTROMETRY. Tissue: Chronic myeloid leukemia cell. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| AF237684 mRNA. Translation: AAK15047.1. Different initiation. AY028377 mRNA. Translation: AAK16927.1. Different initiation. AK074878 mRNA. Translation: BAC11262.1. CH471114 Genomic DNA. Translation: EAW95502.1. BC104219 mRNA. Translation: AAI04220.1. BC106917 mRNA. Translation: AAI06918.1. BC104218 mRNA. Translation: AAI04219.1. | |
| IPI | IPI00171459. |
| UniGene | Hs.555992 |
3D structure databases | |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q3SXM5. 1 interaction. |
Proteomic databases | |
| PRIDE | Q3SXM5. |
Genome annotation databases | |
| Ensembl | ENSG00000103160. Homo sapiens. [Contig view] |
| KEGG | hsa:83693. |
| UCSC | uc002fhk.1. human. |
Organism-specific databases | |
| GeneCards | GC16M082714. |
| HGNC | HGNC:16475. HSDL1. |
| PharmGKB | PA134988345. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOVERGEN | Q3SXM5. |
Gene expression databases | |
| ArrayExpress | Q3SXM5. |
| Bgee | Q3SXM5. |
| CleanEx | HS_HSDL1. |
Family and domain databases | |
| InterPro | IPR002198. DH_sc/Rdtase_SDR. IPR002347. Glc/ribitol_DH. IPR016040. NAD(P)-bd_dom. [Graphical view] |
| Gene3D | G3DSA:3.40.50.720. NAD(P)-bd. 1 hit. |
| PANTHER | PTHR19410. ADH_short_C2. 1 hit. |
| Pfam | PF00106. adh_short. 1 hit. [Graphical view] |
| PRINTS | PR00081. GDHRDH. PR00080. SDRFAMILY. |
| PROSITE | PS00061. ADH_SHORT. False negative. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 72659. |
Entry information
| Entry name | HSDL1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q3SXM5 Secondary accession number(s): Q3SXM4, Q8NC98, Q9BY22 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 16 Human chromosome 16: 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 |
| SIMILARITY comments Index of protein domains and families |

Clusters with


