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Q3SXM5

- HSDL1_HUMAN

UniProt

Q3SXM5 - HSDL1_HUMAN

Protein

Inactive hydroxysteroid dehydrogenase-like protein 1

Gene

HSDL1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 89 (01 Oct 2014)
      Sequence version 3 (30 Nov 2010)
      Previous versions | rss
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    Functioni

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Binding sitei125 – 1251NADPBy similarity
    Binding sitei222 – 2221NADPBy similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi74 – 807NADPBy similarity

    GO - Molecular functioni

    1. oxidoreductase activity Source: InterPro

    Keywords - Ligandi

    NADP

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Inactive hydroxysteroid dehydrogenase-like protein 1
    Gene namesi
    Name:HSDL1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 16

    Organism-specific databases

    HGNCiHGNC:16475. HSDL1.

    Subcellular locationi

    Mitochondrion 1 Publication

    GO - Cellular componenti

    1. mitochondrion Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Mitochondrion

    Pathology & Biotechi

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi218 – 2181F → Y: Restores the oxidoreductase activity. 1 Publication

    Organism-specific databases

    PharmGKBiPA134988345.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11Removed1 Publication
    Chaini2 – 330329Inactive hydroxysteroid dehydrogenase-like protein 1PRO_0000313671Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei2 – 21N-acetylalanine1 Publication

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiQ3SXM5.
    PaxDbiQ3SXM5.
    PRIDEiQ3SXM5.

    PTM databases

    PhosphoSiteiQ3SXM5.

    Expressioni

    Tissue specificityi

    Highly expressed in testis and ovary. Also detected in thyroid, spinal cord, adrenal gland, heart, placenta, skeletal muscle, small intestine, colon, spleen, prostate and pancreas.2 Publications

    Gene expression databases

    ArrayExpressiQ3SXM5.
    BgeeiQ3SXM5.
    CleanExiHS_HSDL1.
    GenevestigatoriQ3SXM5.

    Interactioni

    Subunit structurei

    Interacts with STYXL1.1 Publication

    Protein-protein interaction databases

    BioGridi123727. 2 interactions.
    IntActiQ3SXM5. 1 interaction.
    STRINGi9606.ENSP00000219439.

    Structurei

    3D structure databases

    ProteinModelPortaliQ3SXM5.
    SMRiQ3SXM5. Positions 52-275.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni2 – 8281Required for mitochondria translocationAdd
    BLAST

    Sequence similaritiesi

    Phylogenomic databases

    eggNOGiCOG0300.
    HOGENOMiHOG000039237.
    HOVERGENiHBG005478.
    InParanoidiQ3SXM5.
    OMAiICDFYSL.
    OrthoDBiEOG7CZK63.
    PhylomeDBiQ3SXM5.
    TreeFamiTF314591.

    Family and domain databases

    Gene3Di3.40.50.720. 1 hit.
    InterProiIPR002198. DH_sc/Rdtase_SDR.
    IPR002347. Glc/ribitol_DH.
    IPR016040. NAD(P)-bd_dom.
    [Graphical view]
    PfamiPF00106. adh_short. 1 hit.
    [Graphical view]
    PIRSFiPIRSF000126. 11-beta-HSD1. 1 hit.
    PRINTSiPR00081. GDHRDH.
    PR00080. SDRFAMILY.

    Sequences (2)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q3SXM5-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MAAVDSFYLL YREIARSCNC YMEALALVGA WYTARKSITV ICDFYSLIRL    50
    HFIPRLGSRA DLIKQYGRWA VVSGATDGIG KAYAEELASR GLNIILISRN 100
    EEKLQVVAKD IADTYKVETD IIVADFSSGR EIYLPIREAL KDKDVGILVN 150
    NVGVFYPYPQ YFTQLSEDKL WDIINVNIAA ASLMVHVVLP GMVERKKGAI 200
    VTISSGSCCK PTPQLAAFSA SKAYLDHFSR ALQYEYASKG IFVQSLIPFY 250
    VATSMTAPSN FLHRCSWLVP SPKVYAHHAV STLGISKRTT GYWSHSIQFL 300
    FAQYMPEWLW VWGANILNRS LRKEALSCTA 330
    Length:330
    Mass (Da):37,002
    Last modified:November 30, 2010 - v3
    Checksum:i6203476EE4E6151B
    GO
    Isoform 2 (identifier: Q3SXM5-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         105-159: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:275
    Mass (Da):30,861
    Checksum:i569F4D4791D6CEE6
    GO

    Sequence cautioni

    The sequence AAK15047.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence AAK16927.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti1 – 11M → V in AAK15047. (PubMed:12153137)Curated
    Sequence conflicti1 – 11M → V in AAK16927. (PubMed:12153137)Curated
    Sequence conflicti222 – 2221K → R in AAI04220. (PubMed:15489334)Curated
    Sequence conflicti222 – 2221K → R in AAI06918. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti248 – 2481P → S.
    Corresponds to variant rs11540436 [ dbSNP | Ensembl ].
    VAR_037693
    Natural varianti327 – 3271S → C.1 Publication
    Corresponds to variant rs4378600 [ dbSNP | Ensembl ].
    VAR_037694

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei105 – 15955Missing in isoform 2. 1 PublicationVSP_042823Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF237684 mRNA. Translation: AAK15047.1. Different initiation.
    AY028377 mRNA. Translation: AAK16927.1. Different initiation.
    AK074878 mRNA. Translation: BAC11262.1.
    AK299798 mRNA. Translation: BAG61674.1.
    AC040169 Genomic DNA. No translation available.
    CH471114 Genomic DNA. Translation: EAW95502.1.
    CH471114 Genomic DNA. Translation: EAW95503.1.
    CH471114 Genomic DNA. Translation: EAW95504.1.
    BC104219 mRNA. Translation: AAI04220.1.
    BC106917 mRNA. Translation: AAI06918.1.
    BC104218 mRNA. Translation: AAI04219.1.
    CCDSiCCDS10942.1. [Q3SXM5-1]
    CCDS54046.1. [Q3SXM5-2]
    RefSeqiNP_001139523.1. NM_001146051.1. [Q3SXM5-2]
    NP_113651.4. NM_031463.4. [Q3SXM5-1]
    XP_005256246.1. XM_005256189.1. [Q3SXM5-1]
    UniGeneiHs.555992.

    Genome annotation databases

    EnsembliENST00000219439; ENSP00000219439; ENSG00000103160. [Q3SXM5-1]
    ENST00000434463; ENSP00000407437; ENSG00000103160. [Q3SXM5-2]
    GeneIDi83693.
    KEGGihsa:83693.
    UCSCiuc002fhk.2. human. [Q3SXM5-1]
    uc010vnv.1. human. [Q3SXM5-2]

    Polymorphism databases

    DMDMi313104226.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF237684 mRNA. Translation: AAK15047.1 . Different initiation.
    AY028377 mRNA. Translation: AAK16927.1 . Different initiation.
    AK074878 mRNA. Translation: BAC11262.1 .
    AK299798 mRNA. Translation: BAG61674.1 .
    AC040169 Genomic DNA. No translation available.
    CH471114 Genomic DNA. Translation: EAW95502.1 .
    CH471114 Genomic DNA. Translation: EAW95503.1 .
    CH471114 Genomic DNA. Translation: EAW95504.1 .
    BC104219 mRNA. Translation: AAI04220.1 .
    BC106917 mRNA. Translation: AAI06918.1 .
    BC104218 mRNA. Translation: AAI04219.1 .
    CCDSi CCDS10942.1. [Q3SXM5-1 ]
    CCDS54046.1. [Q3SXM5-2 ]
    RefSeqi NP_001139523.1. NM_001146051.1. [Q3SXM5-2 ]
    NP_113651.4. NM_031463.4. [Q3SXM5-1 ]
    XP_005256246.1. XM_005256189.1. [Q3SXM5-1 ]
    UniGenei Hs.555992.

    3D structure databases

    ProteinModelPortali Q3SXM5.
    SMRi Q3SXM5. Positions 52-275.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 123727. 2 interactions.
    IntActi Q3SXM5. 1 interaction.
    STRINGi 9606.ENSP00000219439.

    PTM databases

    PhosphoSitei Q3SXM5.

    Polymorphism databases

    DMDMi 313104226.

    Proteomic databases

    MaxQBi Q3SXM5.
    PaxDbi Q3SXM5.
    PRIDEi Q3SXM5.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000219439 ; ENSP00000219439 ; ENSG00000103160 . [Q3SXM5-1 ]
    ENST00000434463 ; ENSP00000407437 ; ENSG00000103160 . [Q3SXM5-2 ]
    GeneIDi 83693.
    KEGGi hsa:83693.
    UCSCi uc002fhk.2. human. [Q3SXM5-1 ]
    uc010vnv.1. human. [Q3SXM5-2 ]

    Organism-specific databases

    CTDi 83693.
    GeneCardsi GC16M084155.
    H-InvDB HIX0013288.
    HGNCi HGNC:16475. HSDL1.
    neXtProti NX_Q3SXM5.
    PharmGKBi PA134988345.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0300.
    HOGENOMi HOG000039237.
    HOVERGENi HBG005478.
    InParanoidi Q3SXM5.
    OMAi ICDFYSL.
    OrthoDBi EOG7CZK63.
    PhylomeDBi Q3SXM5.
    TreeFami TF314591.

    Miscellaneous databases

    GenomeRNAii 83693.
    NextBioi 72659.
    PROi Q3SXM5.

    Gene expression databases

    ArrayExpressi Q3SXM5.
    Bgeei Q3SXM5.
    CleanExi HS_HSDL1.
    Genevestigatori Q3SXM5.

    Family and domain databases

    Gene3Di 3.40.50.720. 1 hit.
    InterProi IPR002198. DH_sc/Rdtase_SDR.
    IPR002347. Glc/ribitol_DH.
    IPR016040. NAD(P)-bd_dom.
    [Graphical view ]
    Pfami PF00106. adh_short. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF000126. 11-beta-HSD1. 1 hit.
    PRINTSi PR00081. GDHRDH.
    PR00080. SDRFAMILY.
    ProtoNeti Search...

    Publicationsi

    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] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), 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.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANT CYS-327.
      Tissue: Brain.
    3. "The sequence and analysis of duplication-rich human chromosome 16."
      Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J.
      , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
      Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    6. 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, IDENTIFICATION BY MASS SPECTROMETRY.
      Tissue: Chronic myeloid leukemia cell.
    7. "Human and zebrafish hydroxysteroid dehydrogenase like 1 (HSDL1) proteins are inactive enzymes but conserved among species."
      Meier M., Tokarz J., Haller F., Mindnich R., Adamski J.
      Chem. Biol. Interact. 178:197-205(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: LACK OF ENZYME ACTIVITY, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, MUTAGENESIS OF PHE-218, INTERACTION WITH STYXL1.

    Entry informationi

    Entry nameiHSDL1_HUMAN
    AccessioniPrimary (citable) accession number: Q3SXM5
    Secondary accession number(s): B4DSL2
    , D3DUL4, Q3SXM4, Q8NC98, Q9BY22
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 15, 2008
    Last sequence update: November 30, 2010
    Last modified: October 1, 2014
    This is version 89 of the entry and version 3 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny 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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Direct protein sequencing, Reference proteome

    Documents

    1. Human chromosome 16
      Human chromosome 16: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3