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Protein

Inactive hydroxysteroid dehydrogenase-like protein 1

Gene

HSDL1

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

Functioni

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.Curated

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei125NADPBy similarity1
Binding sitei222NADPBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi74 – 80NADPBy similarity7

Keywordsi

LigandNADP

Names & Taxonomyi

Protein namesi
Recommended name:
Inactive hydroxysteroid dehydrogenase-like protein 1
Alternative name(s):
Short chain dehydrogenase/reductase family 12C member 3
Gene namesi
Name:HSDL1
Synonyms:SDR12C3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

EuPathDBiHostDB:ENSG00000103160.11
HGNCiHGNC:16475 HSDL1
neXtProtiNX_Q3SXM5

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi218F → Y: Restores the oxidoreductase activity. 1 Publication1

Organism-specific databases

OpenTargetsiENSG00000103160
PharmGKBiPA134988345

Polymorphism and mutation databases

BioMutaiHSDL1
DMDMi313104226

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemoved1 Publication
ChainiPRO_00003136712 – 330Inactive hydroxysteroid dehydrogenase-like protein 1Add BLAST329

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanine1 Publication1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ3SXM5
MaxQBiQ3SXM5
PaxDbiQ3SXM5
PeptideAtlasiQ3SXM5
PRIDEiQ3SXM5
ProteomicsDBi61817
61818 [Q3SXM5-2]

PTM databases

iPTMnetiQ3SXM5
PhosphoSitePlusiQ3SXM5
SwissPalmiQ3SXM5

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

BgeeiENSG00000103160 Expressed in 186 organ(s), highest expression level in forebrain
CleanExiHS_HSDL1
ExpressionAtlasiQ3SXM5 baseline and differential
GenevisibleiQ3SXM5 HS

Interactioni

Subunit structurei

Interacts with STYXL1.1 Publication

Protein-protein interaction databases

BioGridi123727, 31 interactors
IntActiQ3SXM5, 2 interactors
MINTiQ3SXM5
STRINGi9606.ENSP00000219439

Structurei

3D structure databases

ProteinModelPortaliQ3SXM5
SMRiQ3SXM5
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni2 – 82Required for mitochondria translocationAdd BLAST81

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG1014 Eukaryota
COG0300 LUCA
GeneTreeiENSGT00390000010069
HOGENOMiHOG000039237
HOVERGENiHBG005478
InParanoidiQ3SXM5
OMAiFYPYPQY
OrthoDBiEOG091G06T2
PhylomeDBiQ3SXM5
TreeFamiTF314591

Family and domain databases

InterProiView protein in InterPro
IPR036291 NAD(P)-bd_dom_sf
IPR002347 SDR_fam
PfamiView protein in Pfam
PF00106 adh_short, 1 hit
PRINTSiPR00081 GDHRDH
PR00080 SDRFAMILY
SUPFAMiSSF51735 SSF51735, 1 hit

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

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.iShow all

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

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BQI7H3BQI7_HUMAN
Inactive hydroxysteroid dehydrogena...
HSDL1
108Annotation score:
H3BT52H3BT52_HUMAN
Inactive hydroxysteroid dehydrogena...
HSDL1
111Annotation score:
H3BNH5H3BNH5_HUMAN
Inactive hydroxysteroid dehydrogena...
HSDL1
70Annotation score:

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti1M → V in AAK15047 (PubMed:12153137).Curated1
Sequence conflicti1M → V in AAK16927 (PubMed:12153137).Curated1
Sequence conflicti222K → R in AAI04220 (PubMed:15489334).Curated1
Sequence conflicti222K → R in AAI06918 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_037693248P → S. Corresponds to variant dbSNP:rs11540436Ensembl.1
Natural variantiVAR_037694327S → C1 PublicationCorresponds to variant dbSNP:rs4378600Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_042823105 – 159Missing in isoform 2. 1 PublicationAdd BLAST55

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_005256189.2 [Q3SXM5-1]
UniGeneiHs.555992

Genome annotation databases

EnsembliENST00000219439; ENSP00000219439; ENSG00000103160 [Q3SXM5-1]
ENST00000434463; ENSP00000407437; ENSG00000103160 [Q3SXM5-2]
GeneIDi83693
KEGGihsa:83693
UCSCiuc002fhk.3 human [Q3SXM5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiHSDL1_HUMAN
AccessioniPrimary (citable) accession number: Q3SXM5
Secondary accession number(s): B4DSL2
, D3DUL4, Q3SXM4, Q8NC98, Q9BY22
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: November 30, 2010
Last modified: September 12, 2018
This is version 123 of the entry and version 3 of the sequence. See 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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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