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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)DescriptionActionsGraphical viewLength
Binding sitei125NADPBy similarity1
Binding sitei222NADPBy similarity1

Regions

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

Keywords - Ligandi

NADP

Enzyme and pathway databases

BioCyciZFISH:G66-30797-MONOMER.

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

HGNCiHGNC:16475. HSDL1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Mutagenesis

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

Organism-specific databases

DisGeNETi83693.
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.

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.
CleanExiHS_HSDL1.
ExpressionAtlasiQ3SXM5. baseline and differential.
GenevisibleiQ3SXM5. HS.

Interactioni

Subunit structurei

Interacts with STYXL1.1 Publication

Protein-protein interaction databases

BioGridi123727. 22 interactors.
IntActiQ3SXM5. 2 interactors.
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.
OMAiFLHRCSW.
OrthoDBiEOG091G06T2.
PhylomeDBiQ3SXM5.
TreeFamiTF314591.

Family and domain databases

Gene3Di3.40.50.720. 1 hit.
InterProiIPR016040. NAD(P)-bd_dom.
IPR002347. SDR_fam.
[Graphical view]
PANTHERiPTHR24322. PTHR24322. 2 hits.
PfamiPF00106. adh_short. 1 hit.
[Graphical view]
PIRSFiPIRSF000126. 11-beta-HSD1. 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

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 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 rs11540436dbSNPEnsembl.1
Natural variantiVAR_037694327S → C.1 PublicationCorresponds to variant rs4378600dbSNPEnsembl.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

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_005256189.2. [Q3SXM5-1]
UniGeneiHs.555992.

3D structure databases

ProteinModelPortaliQ3SXM5.
SMRiQ3SXM5.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123727. 22 interactors.
IntActiQ3SXM5. 2 interactors.
STRINGi9606.ENSP00000219439.

PTM databases

iPTMnetiQ3SXM5.
PhosphoSitePlusiQ3SXM5.
SwissPalmiQ3SXM5.

Polymorphism and mutation databases

BioMutaiHSDL1.
DMDMi313104226.

Proteomic databases

EPDiQ3SXM5.
MaxQBiQ3SXM5.
PaxDbiQ3SXM5.
PeptideAtlasiQ3SXM5.
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.3. human. [Q3SXM5-1]

Organism-specific databases

CTDi83693.
DisGeNETi83693.
GeneCardsiHSDL1.
H-InvDBHIX0013288.
HGNCiHGNC:16475. HSDL1.
neXtProtiNX_Q3SXM5.
OpenTargetsiENSG00000103160.
PharmGKBiPA134988345.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1014. Eukaryota.
COG0300. LUCA.
GeneTreeiENSGT00390000010069.
HOGENOMiHOG000039237.
HOVERGENiHBG005478.
InParanoidiQ3SXM5.
OMAiFLHRCSW.
OrthoDBiEOG091G06T2.
PhylomeDBiQ3SXM5.
TreeFamiTF314591.

Enzyme and pathway databases

BioCyciZFISH:G66-30797-MONOMER.

Miscellaneous databases

GenomeRNAii83693.
PROiQ3SXM5.

Gene expression databases

BgeeiENSG00000103160.
CleanExiHS_HSDL1.
ExpressionAtlasiQ3SXM5. baseline and differential.
GenevisibleiQ3SXM5. HS.

Family and domain databases

Gene3Di3.40.50.720. 1 hit.
InterProiIPR016040. NAD(P)-bd_dom.
IPR002347. SDR_fam.
[Graphical view]
PANTHERiPTHR24322. PTHR24322. 2 hits.
PfamiPF00106. adh_short. 1 hit.
[Graphical view]
PIRSFiPIRSF000126. 11-beta-HSD1. 1 hit.
PRINTSiPR00081. GDHRDH.
PR00080. SDRFAMILY.
SUPFAMiSSF51735. SSF51735. 1 hit.
ProtoNetiSearch...

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: November 2, 2016
This is version 110 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

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

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

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 one 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.