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Q3SXM5 (HSDL1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 88. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Inactive hydroxysteroid dehydrogenase-like protein 1
Gene names
Name:HSDL1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length330 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Subunit structure

Interacts with STYXL1. Ref.7

Subcellular location

Mitochondrion Ref.7.

Tissue specificity

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. Ref.1 Ref.7

Sequence similarities

Belongs to the short-chain dehydrogenases/reductases (SDR) family. 17-beta-HSD 3 subfamily.

Caution

Although it belongs to the SDR family, Phe-218 is present instead of the conserved Tyr which is an active site residue. It is therefore expected that this protein lacks oxidoreductase activity.

Sequence caution

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.

Ontologies

Keywords
   Cellular componentMitochondrion
   Coding sequence diversityAlternative splicing
Polymorphism
   LigandNADP
   PTMAcetylation
   Technical termComplete proteome
Direct protein sequencing
Reference proteome
Gene Ontology (GO)
   Cellular_componentmitochondrion

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionoxidoreductase activity

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q3SXM5-1)

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.
Isoform 2 (identifier: Q3SXM5-2)

The sequence of this isoform differs from the canonical sequence as follows:
     105-159: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed Ref.6
Chain2 – 330329Inactive hydroxysteroid dehydrogenase-like protein 1
PRO_0000313671

Regions

Nucleotide binding74 – 807NADP By similarity
Region2 – 8281Required for mitochondria translocation

Sites

Binding site1251NADP By similarity
Binding site2221NADP By similarity

Amino acid modifications

Modified residue21N-acetylalanine Ref.6

Natural variations

Alternative sequence105 – 15955Missing in isoform 2.
VSP_042823
Natural variant2481P → S.
Corresponds to variant rs11540436 [ dbSNP | Ensembl ].
VAR_037693
Natural variant3271S → C. Ref.2
Corresponds to variant rs4378600 [ dbSNP | Ensembl ].
VAR_037694

Experimental info

Mutagenesis2181F → Y: Restores the oxidoreductase activity. Ref.7
Sequence conflict11M → V in AAK15047. Ref.1
Sequence conflict11M → V in AAK16927. Ref.1
Sequence conflict2221K → R in AAI04220. Ref.5
Sequence conflict2221K → R in AAI06918. Ref.5

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 30, 2010. Version 3.
Checksum: 6203476EE4E6151B

FASTA33037,002
        10         20         30         40         50         60 
MAAVDSFYLL YREIARSCNC YMEALALVGA WYTARKSITV ICDFYSLIRL HFIPRLGSRA 

        70         80         90        100        110        120 
DLIKQYGRWA VVSGATDGIG KAYAEELASR GLNIILISRN EEKLQVVAKD IADTYKVETD 

       130        140        150        160        170        180 
IIVADFSSGR EIYLPIREAL KDKDVGILVN NVGVFYPYPQ YFTQLSEDKL WDIINVNIAA 

       190        200        210        220        230        240 
ASLMVHVVLP GMVERKKGAI VTISSGSCCK PTPQLAAFSA SKAYLDHFSR ALQYEYASKG 

       250        260        270        280        290        300 
IFVQSLIPFY VATSMTAPSN FLHRCSWLVP SPKVYAHHAV STLGISKRTT GYWSHSIQFL 

       310        320        330 
FAQYMPEWLW VWGANILNRS LRKEALSCTA 

« Hide

Isoform 2 [UniParc].

Checksum: 569F4D4791D6CEE6
Show »

FASTA27530,861

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] [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. expand/collapse author list , 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. expand/collapse author list , 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]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. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS10942.1. [Q3SXM5-1]
CCDS54046.1. [Q3SXM5-2]
RefSeqNP_001139523.1. NM_001146051.1. [Q3SXM5-2]
NP_113651.4. NM_031463.4. [Q3SXM5-1]
XP_005256246.1. XM_005256189.1. [Q3SXM5-1]
UniGeneHs.555992.

3D structure databases

ProteinModelPortalQ3SXM5.
SMRQ3SXM5. Positions 52-275.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid123727. 2 interactions.
IntActQ3SXM5. 1 interaction.
STRING9606.ENSP00000219439.

PTM databases

PhosphoSiteQ3SXM5.

Polymorphism databases

DMDM313104226.

Proteomic databases

MaxQBQ3SXM5.
PaxDbQ3SXM5.
PRIDEQ3SXM5.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000219439; ENSP00000219439; ENSG00000103160. [Q3SXM5-1]
ENST00000434463; ENSP00000407437; ENSG00000103160. [Q3SXM5-2]
GeneID83693.
KEGGhsa:83693.
UCSCuc002fhk.2. human. [Q3SXM5-1]
uc010vnv.1. human. [Q3SXM5-2]

Organism-specific databases

CTD83693.
GeneCardsGC16M084155.
H-InvDBHIX0013288.
HGNCHGNC:16475. HSDL1.
neXtProtNX_Q3SXM5.
PharmGKBPA134988345.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0300.
HOGENOMHOG000039237.
HOVERGENHBG005478.
InParanoidQ3SXM5.
OMAICDFYSL.
OrthoDBEOG7CZK63.
PhylomeDBQ3SXM5.
TreeFamTF314591.

Gene expression databases

ArrayExpressQ3SXM5.
BgeeQ3SXM5.
CleanExHS_HSDL1.
GenevestigatorQ3SXM5.

Family and domain databases

Gene3D3.40.50.720. 1 hit.
InterProIPR002198. DH_sc/Rdtase_SDR.
IPR002347. Glc/ribitol_DH.
IPR016040. NAD(P)-bd_dom.
[Graphical view]
PfamPF00106. adh_short. 1 hit.
[Graphical view]
PIRSFPIRSF000126. 11-beta-HSD1. 1 hit.
PRINTSPR00081. GDHRDH.
PR00080. SDRFAMILY.
ProtoNetSearch...

Other

GenomeRNAi83693.
NextBio72659.
PROQ3SXM5.

Entry information

Entry nameHSDL1_HUMAN
AccessionPrimary (citable) accession number: Q3SXM5
Secondary accession number(s): B4DSL2 expand/collapse secondary AC list , D3DUL4, Q3SXM4, Q8NC98, Q9BY22
Entry history
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: November 30, 2010
Last modified: July 9, 2014
This is version 88 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 16

Human chromosome 16: entries, gene names and cross-references to MIM