Q6YN16 (HSDL2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Hydroxysteroid dehydrogenase-like protein 2
EC=1.-.-.-

Gene names

Name:	HSDL2
Synonyms:	C9orf99

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	418 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Has apparently no steroid dehydrogenase activity. Ref.7
Subcellular location	Peroxisome Ref.7.
Tissue specificity	Ubiquitous. Ref.1
Sequence similarities	Belongs to the short-chain dehydrogenases/reductases (SDR) family. Contains 1 SCP2 domain.

Ontologies

Keywords
Cellular component	Peroxisome
Coding sequence diversity	Alternative splicing
Ligand	NADP
Molecular function	Oxidoreductase
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Cellular component	peroxisome Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	nucleotide binding Inferred from electronic annotation. Source: InterPro oxidoreductase activity Inferred from electronic annotation. Source: UniProtKB-KW sterol binding 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: Q6YN16-1)

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: Q6YN16-2)

The sequence of this isoform differs from the canonical sequence as follows:
     94-166: Missing.

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 418

418

Hydroxysteroid dehydrogenase-like protein 2

PRO_0000319888

Regions

Domain

306 – 415

110

SCP2

Nucleotide binding

17 – 23

7

NADP

Sites

Active site

168

1

Proton acceptor Potential

Binding site

42

1

NADP

Binding site

74

1

NADP

Binding site

172

1

NADP

Natural variations

Alternative sequence

94 – 166

73

Missing in isoform 2.

VSP_031529

Experimental info

Sequence conflict

62

1

E → G in BAF82618. Ref.2

Sequence conflict

89

1

I → V in BAF85175. Ref.2

Secondary structure

1

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

418

Helix Strand Turn

Details...

Beta strand

12 – 15

4

Helix

25 – 31

7

Beta strand

36 – 42

7

Helix

54 – 63

10

Beta strand

68 – 72

5

Helix

78 – 91

14

Beta strand

97 – 100

4

Turn

110 – 112

3

Helix

115 – 124

10

Helix

130 – 140

11

Beta strand

147 – 151

5

Helix

159 – 161

3

Beta strand

163 – 165

3

Helix

166 – 172

7

Helix

176 – 179

4

Turn

183 – 186

4

Beta strand

191 – 196

6

Helix

204 – 208

5

Helix

215 – 217

3

Helix

222 – 232

11

Beta strand

242 – 244

3

Helix

245 – 251

7

Helix

257 – 260

4

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified July 5, 2004. Version 1. Checksum: A8B27CC7D6F1B636	FASTA	418	45,395
	10 20 30 40 50 60 MLPNTGRLAG CTVFITGASR GIGKAIALKA AKDGANIVIA AKTAQPHPKL LGTIYTAAEE 70 80 90 100 110 120 IEAVGGKALP CIVDVRDEQQ ISAAVEKAIK KFGGIDILVN NASAISLTNT LDTPTKRLDL 130 140 150 160 170 180 MMNVNTRGTY LASKACIPYL KKSKVAHILN ISPPLNLNPV WFKQHCAYTI AKYGMSMYVL 190 200 210 220 230 240 GMAEEFKGEI AVNALWPKTA IHTAAMDMLG GPGIESQCRK VDIIADAAYS IFQKPKSFTG 250 260 270 280 290 300 NFVIDENILK EEGIENFDVY AIKPGHPLQP DFFLDEYPEA VSKKVESTGA VPEFKEEKLQ 310 320 330 340 350 360 LQPKPRSGAV EETFRIVKDS LSDDVVKATQ AIYLFELSGE DGGTWFLDLK SKGGNVGYGE 370 380 390 400 410 PSDQADVVMS MTTDDFVKMF SGKLKPTMAF MSGKLKIKGN MALAIKLEKL MNQMNARL
	Isoform 2 [UniParc]. Checksum: A8CE6A7AC163A2D1	FASTA	345	37,320
	10 20 30 40 50 60 MLPNTGRLAG CTVFITGASR GIGKAIALKA AKDGANIVIA AKTAQPHPKL LGTIYTAAEE 70 80 90 100 110 120 IEAVGGKALP CIVDVRDEQQ ISAAVEKAIK KFGAYTIAKY GMSMYVLGMA EEFKGEIAVN 130 140 150 160 170 180 ALWPKTAIHT AAMDMLGGPG IESQCRKVDI IADAAYSIFQ KPKSFTGNFV IDENILKEEG 190 200 210 220 230 240 IENFDVYAIK PGHPLQPDFF LDEYPEAVSK KVESTGAVPE FKEEKLQLQP KPRSGAVEET 250 260 270 280 290 300 FRIVKDSLSD DVVKATQAIY LFELSGEDGG TWFLDLKSKG GNVGYGEPSD QADVVMSMTT 310 320 330 340 DDFVKMFSGK LKPTMAFMSG KLKIKGNMAL AIKLEKLMNQ MNARL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Molecular cloning and characterization of a novel human hydroxysteroid dehydrogenase-like 2 (HSDL2) cDNA from fetal brain." Dai J., Xie Y., Wu Q., Wang L., Yin G., Ye X., Zeng L., Xu J., Ji C., Gu S., Huang Q., Zhao R.C., Mao Y. Biochem. Genet. 41:165-174(2003) [PubMed: 12834046] [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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2). Tissue: Hippocampus and Testis.
[3]	"DNA sequence and analysis of human chromosome 9." Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I. Nature 429:369-374(2004) [PubMed: 15164053] [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. , 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 (JUL-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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2). Tissue: Blood vessel and Uterus.
[6]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 78-418 (ISOFORM 1). Tissue: Stomach.
[7]	"In search for function of two human orphan SDR enzymes: Hydroxysteroid dehydrogenase like 2 (HSDL2) and short-chain dehydrogenase/reductase-orphan (SDR-O)." Kowalik D., Haller F., Adamski J., Moeller G. J. Steroid Biochem. Mol. Biol. 117:117-124(2009) [PubMed: 19703561] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION.
[8]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed: 21269460] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[9]	"Crystal structure of the catalytic domain of human hydroxysteroid dehydrogenase like 2 (HSDL2)." Structural genomics consortium (SGC) Submitted (MAR-2010) to the PDB data bank Cited for: X-RAY CRYSTALLOGRAPHY (2.25 ANGSTROMS) OF 1-293 IN COMPLEX WITH NADP.
+	Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

AY093428 mRNA. Translation: AAM14670.1.
AK292486 mRNA. Translation: BAF85175.1.
AK289929 mRNA. Translation: BAF82618.1.
AL162732 Genomic DNA. Translation: CAM17151.1.
AL162732 Genomic DNA. Translation: CAM17152.1.
CH471105 Genomic DNA. Translation: EAW59105.1.
CH471105 Genomic DNA. Translation: EAW59106.1.
BC004331 mRNA. Translation: AAH04331.1.
BC095451 mRNA. Translation: AAH95451.1.
AL833735 mRNA. Translation: CAH56256.1.

IPI

IPI00031107.
IPI00414384.

RefSeq

NP_001182751.1. NM_001195822.1.
NP_115679.2. NM_032303.4.

UniGene

Hs.59486.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
3KVO	X-ray	2.25	A/B	1-293	[»]

ProteinModelPortal

Q6YN16.

SMR

Q6YN16. Positions 1-276, 309-418.

ModBase

Search...

Protein-protein interaction databases

IntAct

Q6YN16. 2 interactions.

STRING

Q6YN16.

PTM databases

PhosphoSite

Q6YN16.

Polymorphism databases

DMDM

74749521.

2D gel databases

UCD-2DPAGE

Q6YN16.

Proteomic databases

PRIDE

Q6YN16.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000398805; ENSP00000381785; ENSG00000119471.

GeneID

84263.

KEGG

hsa:84263.

UCSC

uc004bga.1. human.
uc004bgc.1. human.

Organism-specific databases

CTD

84263.

GeneCards

GC09P115142.

H-InvDB

HIX0022512.

HGNC

HGNC:18572. HSDL2.

neXtProt

NX_Q6YN16.

PharmGKB

PA134980105.

GenAtlas

Search...

Phylogenomic databases

eggNOG

prNOG08209.

GeneTree

ENSGT00530000062928.

HOGENOM

HBG750976.

HOVERGEN

HBG107982.

InParanoid

Q6YN16.

OMA

PQLQEQP.

OrthoDB

EOG4WDDBV.

PhylomeDB

Q6YN16.

Gene expression databases

ArrayExpress

Q6YN16.

Bgee

Q6YN16.

CleanEx

HS_HSDL2.

Genevestigator

Q6YN16.

Family and domain databases

InterPro

IPR002198. DH_sc/Rdtase_SDR.
IPR002347. Glc/ribitol_DH.
IPR016040. NAD(P)-bd_dom.
IPR020904. Sc_DH/Rdtase_CS.
IPR003033. SCP2_sterol-bd_dom.
[Graphical view]

Gene3D

G3DSA:3.40.50.720. NAD(P)-bd. 2 hits.

Pfam

PF00106. adh_short. 1 hit.
PF02036. SCP2. 1 hit.
[Graphical view]

PRINTS

PR00081. GDHRDH.

SUPFAM

SSF55718. SCP2. 1 hit.

PROSITE

PS00061. ADH_SHORT. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

NextBio

73798.

Entry information

Entry name

HSDL2_HUMAN

Accession

Primary (citable) accession number: Q6YN16
Secondary accession number(s): A8K1L4 , A8K8X1, A8MSV3, Q658M8, Q9BT58

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 26, 2008
Last sequence update:	July 5, 2004
Last modified:	January 25, 2012
This is version 75 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.