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Protein

Inactive hydroxysteroid dehydrogenase-like protein 1

Gene

HSDL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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
Complete GO annotation...

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
Complete GO annotation...

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

BgeeiQ3SXM5.
CleanExiHS_HSDL1.
ExpressionAtlasiQ3SXM5. baseline and differential.
GenevestigatoriQ3SXM5.

Interactioni

Subunit structurei

Interacts with STYXL1.1 Publication

Protein-protein interaction databases

BioGridi123727. 8 interactions.
IntActiQ3SXM5. 1 interaction.
STRINGi9606.ENSP00000219439.

Structurei

3D structure databases

ProteinModelPortaliQ3SXM5.
SMRiQ3SXM5. Positions 70-292.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

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

Sequence similaritiesi

Phylogenomic databases

eggNOGiCOG0300.
GeneTreeiENSGT00390000010069.
HOGENOMiHOG000039237.
HOVERGENiHBG005478.
InParanoidiQ3SXM5.
OMAiFLHRCSW.
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. AlignAdd to basket

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

        10         20         30         40         50
MAAVDSFYLL YREIARSCNC YMEALALVGA WYTARKSITV ICDFYSLIRL
60 70 80 90 100
HFIPRLGSRA DLIKQYGRWA VVSGATDGIG KAYAEELASR GLNIILISRN
110 120 130 140 150
EEKLQVVAKD IADTYKVETD IIVADFSSGR EIYLPIREAL KDKDVGILVN
160 170 180 190 200
NVGVFYPYPQ YFTQLSEDKL WDIINVNIAA ASLMVHVVLP GMVERKKGAI
210 220 230 240 250
VTISSGSCCK PTPQLAAFSA SKAYLDHFSR ALQYEYASKG IFVQSLIPFY
260 270 280 290 300
VATSMTAPSN FLHRCSWLVP SPKVYAHHAV STLGISKRTT GYWSHSIQFL
310 320 330
FAQYMPEWLW VWGANILNRS LRKEALSCTA
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.Curated
The sequence AAK16927.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

ProteinModelPortaliQ3SXM5.
SMRiQ3SXM5. Positions 70-292.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123727. 8 interactions.
IntActiQ3SXM5. 1 interaction.
STRINGi9606.ENSP00000219439.

PTM databases

PhosphoSiteiQ3SXM5.

Polymorphism databases

DMDMi313104226.

Proteomic databases

MaxQBiQ3SXM5.
PaxDbiQ3SXM5.
PRIDEiQ3SXM5.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi83693.
GeneCardsiGC16M084155.
H-InvDBHIX0013288.
HGNCiHGNC:16475. HSDL1.
neXtProtiNX_Q3SXM5.
PharmGKBiPA134988345.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG0300.
GeneTreeiENSGT00390000010069.
HOGENOMiHOG000039237.
HOVERGENiHBG005478.
InParanoidiQ3SXM5.
OMAiFLHRCSW.
OrthoDBiEOG7CZK63.
PhylomeDBiQ3SXM5.
TreeFamiTF314591.

Miscellaneous databases

GenomeRNAii83693.
NextBioi72659.
PROiQ3SXM5.

Gene expression databases

BgeeiQ3SXM5.
CleanExiHS_HSDL1.
ExpressionAtlasiQ3SXM5. baseline and differential.
GenevestigatoriQ3SXM5.

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.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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: January 7, 2015
This is version 92 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.