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Q3SXM5

- HSDL1_HUMAN

UniProt

Q3SXM5 - HSDL1_HUMAN

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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

Functioni

Sites

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

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi74 – 807NADP By 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 1
PRO_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.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni2 – 8281Required for mitochondria translocation
Add
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.

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.
VSP_042823Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti1 – 11M → V in AAK15047. 1 Publication
Sequence conflicti1 – 11M → V in AAK16927. 1 Publication
Sequence conflicti222 – 2221K → R in AAI04220. 1 Publication
Sequence conflicti222 – 2221K → R in AAI06918. 1 Publication

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

« 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: July 9, 2014
This is version 88 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

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