Q7Z5J1 (DHI1L_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Hydroxysteroid 11-beta-dehydrogenase 1-like protein
EC=1.1.1.-

Alternative name(s):
11-beta-hydroxysteroid dehydrogenase type 3
Short name=11-DH3
Short name=11-beta-HSD3
Short-chain dehydrogenase/reductase 10

Gene names

Name:	HSD11B1L
Synonyms:	HSD3, SCDR10

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	315 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at transcript level

General annotation (Comments)

Subcellular location	Secreted Potential.
Sequence similarities	Belongs to the short-chain dehydrogenases/reductases (SDR) family.

Ontologies

Keywords
Cellular component	Secreted
Coding sequence diversity	Alternative splicing
Domain	Signal
Ligand	NADP
Molecular function	Oxidoreductase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	extracellular region Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	oxidoreductase activity Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Alternative products

This entry describes 8 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q7Z5J1-1)

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: Q7Z5J1-2)

Also known as: B;

The sequence of this isoform differs from the canonical sequence as follows:
     223-234: Missing.
     238-315: PLQSQTAMFL...LARPHLFGHD → TRVKAAPGPK...QELNVTAAAA

Isoform 3 (identifier: Q7Z5J1-3)

Also known as: G;

The sequence of this isoform differs from the canonical sequence as follows:
     25-105: Missing.

Isoform 4 (identifier: Q7Z5J1-4)

Also known as: F;

The sequence of this isoform differs from the canonical sequence as follows:
     1-134: Missing.

Isoform 5 (identifier: Q7Z5J1-5)

Also known as: C;

The sequence of this isoform differs from the canonical sequence as follows:
     1-87: Missing.
     223-234: Missing.
     238-315: PLQSQTAMFL...LARPHLFGHD → TRVKAAPGPK...QELNVTAAAA

Isoform 6 (identifier: Q7Z5J1-6)

Also known as: A;

The sequence of this isoform differs from the canonical sequence as follows:
     25-105: Missing.
     223-234: Missing.
     238-315: PLQSQTAMFL...LARPHLFGHD → TRVKAAPGPK...QELNVTAAAA

Isoform 7 (identifier: Q7Z5J1-7)

Also known as: D;

The sequence of this isoform differs from the canonical sequence as follows:
     1-134: Missing.
     223-234: Missing.
     238-315: PLQSQTAMFL...LARPHLFGHD → TRVKAAPGPK...QELNVTAAAA

Isoform 8 (identifier: Q7Z5J1-8)

The sequence of this isoform differs from the canonical sequence as follows:
     69-87: VVGNCRKLGAPKVFYIAAD → ARWLTLVVSTLGGRGKWIT
     88-315: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 15	15	Potential
	Chain	16 – 315	300	Hydroxysteroid 11-beta-dehydrogenase 1-like protein		PRO_0000316816
Regions
	Nucleotide binding	36 – 62	27	NADP By similarity
	Nucleotide binding	87 – 88	2	NADP By similarity
	Nucleotide binding	114 – 116	3	NADP By similarity
	Nucleotide binding	178 – 182	5	NADP By similarity
	Nucleotide binding	211 – 217	7	NADP By similarity
Sites
	Active site	178	1	Proton acceptor By similarity
	Binding site	165	1	Substrate By similarity
Natural variations
	Alternative sequence	1 – 134	134	Missing in isoform 4 and isoform 7.		VSP_030791
	Alternative sequence	1 – 87	87	Missing in isoform 5.		VSP_030792
	Alternative sequence	25 – 105	81	Missing in isoform 3 and isoform 6.		VSP_030793
	Alternative sequence	69 – 87	19	VVGNC…YIAAD → ARWLTLVVSTLGGRGKWIT in isoform 8.		VSP_030794
	Alternative sequence	88 – 315	228	Missing in isoform 8.		VSP_030795
	Alternative sequence	223 – 234	12	Missing in isoform 2, isoform 5, isoform 6 and isoform 7.		VSP_030796
	Alternative sequence	238 – 315	78	PLQSQ…LFGHD → TRVKAAPGPKAALAVIRGGA TRAAGVFYPWRFRLLCLLRR WLPRPRAWFIRQELNVTAAA A in isoform 2, isoform 5, isoform 6 and isoform 7.		VSP_030797

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 1, 2003. Version 1. Checksum: F7C3A61476A1E48F	FASTA	315	34,288
	10 20 30 40 50 60 MKVLLLTGLG ALFFAYYWDD NFDPASLQGA RVLLTGANAG VGEELAYHYA RLGSHLVLTA 70 80 90 100 110 120 HTEALLQKVV GNCRKLGAPK VFYIAADMAS PEAPESVVQF ALDKLGGLDY LVLNHIGGAP 130 140 150 160 170 180 AGTRARSPQA TRWLMQVNFV SYVQLTSRAL PSLTDSKGSL VVVSSLLGRV PTSFSTPYSA 190 200 210 220 230 240 AKFALDGFFG SLRRELDVQD VNVAITMCVL GLRDRASAAE AVRSSTSRPR QPEHRGVPLQ 250 260 270 280 290 300 SQTAMFLPPT VPGARTLTET PLRGWPQPKM KSSRQKSKTE KNDGHLEPVT AWEVQVPRVR 310 RLCRGLARPH LFGHD
	Isoform 2 (B) [UniParc]. Checksum: 7311D355E25C630B	FASTA	286	30,848
	10 20 30 40 50 60 MKVLLLTGLG ALFFAYYWDD NFDPASLQGA RVLLTGANAG VGEELAYHYA RLGSHLVLTA 70 80 90 100 110 120 HTEALLQKVV GNCRKLGAPK VFYIAADMAS PEAPESVVQF ALDKLGGLDY LVLNHIGGAP 130 140 150 160 170 180 AGTRARSPQA TRWLMQVNFV SYVQLTSRAL PSLTDSKGSL VVVSSLLGRV PTSFSTPYSA 190 200 210 220 230 240 AKFALDGFFG SLRRELDVQD VNVAITMCVL GLRDRASAAE AVRGVTRVKA APGPKAALAV 250 260 270 280 IRGGATRAAG VFYPWRFRLL CLLRRWLPRP RAWFIRQELN VTAAAA
	Isoform 3 (G) [UniParc]. Checksum: 7CBF1C61D948593E	FASTA	234	25,788
	10 20 30 40 50 60 MKVLLLTGLG ALFFAYYWDD NFDPGGLDYL VLNHIGGAPA GTRARSPQAT RWLMQVNFVS 70 80 90 100 110 120 YVQLTSRALP SLTDSKGSLV VVSSLLGRVP TSFSTPYSAA KFALDGFFGS LRRELDVQDV 130 140 150 160 170 180 NVAITMCVLG LRDRASAAEA VRSSTSRPRQ PEHRGVPLQS QTAMFLPPTV PGARTLTETP 190 200 210 220 230 LRGWPQPKMK SSRQKSKTEK NDGHLEPVTA WEVQVPRVRR LCRGLARPHL FGHD
	Isoform 4 (F) [UniParc]. Checksum: CA0DD79B7AF1D205	FASTA	181	19,965
	10 20 30 40 50 60 MQVNFVSYVQ LTSRALPSLT DSKGSLVVVS SLLGRVPTSF STPYSAAKFA LDGFFGSLRR 70 80 90 100 110 120 ELDVQDVNVA ITMCVLGLRD RASAAEAVRS STSRPRQPEH RGVPLQSQTA MFLPPTVPGA 130 140 150 160 170 180 RTLTETPLRG WPQPKMKSSR QKSKTEKNDG HLEPVTAWEV QVPRVRRLCR GLARPHLFGH D
	Isoform 5 (C) [UniParc]. Checksum: AD34645BA242F217	FASTA	199	21,469
	10 20 30 40 50 60 MASPEAPESV VQFALDKLGG LDYLVLNHIG GAPAGTRARS PQATRWLMQV NFVSYVQLTS 70 80 90 100 110 120 RALPSLTDSK GSLVVVSSLL GRVPTSFSTP YSAAKFALDG FFGSLRRELD VQDVNVAITM 130 140 150 160 170 180 CVLGLRDRAS AAEAVRGVTR VKAAPGPKAA LAVIRGGATR AAGVFYPWRF RLLCLLRRWL 190 PRPRAWFIRQ ELNVTAAAA
	Isoform 6 (A) [UniParc]. Checksum: 211008CB138A957A	FASTA	205	22,347
	10 20 30 40 50 60 MKVLLLTGLG ALFFAYYWDD NFDPGGLDYL VLNHIGGAPA GTRARSPQAT RWLMQVNFVS 70 80 90 100 110 120 YVQLTSRALP SLTDSKGSLV VVSSLLGRVP TSFSTPYSAA KFALDGFFGS LRRELDVQDV 130 140 150 160 170 180 NVAITMCVLG LRDRASAAEA VRGVTRVKAA PGPKAALAVI RGGATRAAGV FYPWRFRLLC 190 200 LLRRWLPRPR AWFIRQELNV TAAAA
	Isoform 7 (D) [UniParc]. Checksum: 78DB1E38E7C9E87D	FASTA	152	16,524
	10 20 30 40 50 60 MQVNFVSYVQ LTSRALPSLT DSKGSLVVVS SLLGRVPTSF STPYSAAKFA LDGFFGSLRR 70 80 90 100 110 120 ELDVQDVNVA ITMCVLGLRD RASAAEAVRG VTRVKAAPGP KAALAVIRGG ATRAAGVFYP 130 140 150 WRFRLLCLLR RWLPRPRAWF IRQELNVTAA AA
	Isoform 8 [UniParc]. Checksum: D5974BC809897C2A	FASTA	87	9,490
	10 20 30 40 50 60 MKVLLLTGLG ALFFAYYWDD NFDPASLQGA RVLLTGANAG VGEELAYHYA RLGSHLVLTA 70 80 HTEALLQKAR WLTLVVSTLG GRGKWIT

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	Huang C.Q., Wu S.L., Chen Z., Xiao P.J. Submitted (JUN-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3; 4; 5; 6 AND 7).
[2]	"The DNA sequence and biology of human chromosome 19." Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V. , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M. Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	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 (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"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] (ISOFORMS 7 AND 8), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 106-315 (ISOFORM 5). Tissue: Brain and Ovary.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AY268351 mRNA. Translation: AAP42285.1. AY268352 mRNA. Translation: AAP42286.1. AY268353 mRNA. Translation: AAP42287.1. AY268354 mRNA. Translation: AAP42288.1. AY313894 mRNA. Translation: AAP83166.1. AY313895 mRNA. Translation: AAP83167.1. AY313896 mRNA. Translation: AAP83168.1. AC011499 Genomic DNA. No translation available. CH471139 Genomic DNA. Translation: EAW69156.1. CH471139 Genomic DNA. Translation: EAW69157.1. BC053546 mRNA. Translation: AAH53546.1. BC072434 mRNA. Translation: AAH72434.1. BC093950 mRNA. Translation: AAH93950.1. BC112187 mRNA. Translation: AAI12188.1. BC018336 mRNA. Translation: AAH18336.1.
IPI	IPI00385275. IPI00385295. IPI00394885. IPI00748063. IPI00789914. IPI00876871. IPI00884951. IPI00885060.
RefSeq	NP_001254798.1. NM_001267869.1. NP_001254799.1. NM_001267870.1. NP_001254800.1. NM_001267871.1. NP_940935.1. NM_198533.2. NP_941993.1. NM_198704.2. NP_941994.1. NM_198705.2. NP_941995.1. NM_198706.2. NP_941996.1. NM_198707.2. NP_941997.1. NM_198708.2.
UniGene	Hs.631840. Hs.739286.
3D structure databases
ProteinModelPortal	Q7Z5J1.
ModBase	Search...
PTM databases
PhosphoSite	Q7Z5J1.
Polymorphism databases
DMDM	74750135.
Proteomic databases
PaxDb	Q7Z5J1.
PRIDE	Q7Z5J1.
Protocols and materials databases
DNASU	374875.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000301382; ENSP00000301382; ENSG00000167733. ENST00000339423; ENSP00000340436; ENSG00000167733. ENST00000342970; ENSP00000343451; ENSG00000167733. ENST00000411793; ENSP00000398955; ENSG00000167733. ENST00000422535; ENSP00000409592; ENSG00000167733. ENST00000423665; ENSP00000407154; ENSG00000167733. ENST00000577917; ENSP00000463073; ENSG00000167733. ENST00000581521; ENSP00000463794; ENSG00000167733. ENST00000581773; ENSP00000462975; ENSG00000167733. ENST00000581893; ENSP00000464454; ENSG00000167733. ENST00000583928; ENSP00000462586; ENSG00000167733.
GeneID	374875.
KEGG	hsa:374875.
UCSC	uc002mck.3. human. uc002mcl.3. human. uc002mcn.3. human. uc002mco.3. human. uc002mcp.3. human. uc002mcr.3. human.
Organism-specific databases
CTD	374875.
GeneCards	GC19P005633.
HGNC	HGNC:30419. HSD11B1L.
neXtProt	NX_Q7Z5J1.
PharmGKB	PA144596423.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG1028.
HOVERGEN	HBG005481.
OMA	PSPFSMW.
OrthoDB	EOG405S1K.
Gene expression databases
Bgee	Q7Z5J1.
CleanEx	HS_HSD11B1L.
Genevestigator	Q7Z5J1.
Family and domain databases
Gene3D	3.40.50.720. 1 hit.
InterPro	IPR002198. DH_sc/Rdtase_SDR. IPR002347. Glc/ribitol_DH. IPR016040. NAD(P)-bd_dom. IPR020904. Sc_DH/Rdtase_CS. [Graphical view]
Pfam	PF00106. adh_short. 1 hit. [Graphical view]
PRINTS	PR00081. GDHRDH.
PROSITE	PS00061. ADH_SHORT. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	374875.
NextBio	100285.

Entry information

Entry name

DHI1L_HUMAN

Accession

Primary (citable) accession number: Q7Z5J1
Secondary accession number(s): Q05D45 , Q52LF4, Q7Z5I9, Q7Z5J0, Q7Z5P5, Q7Z5P6, Q7Z5P7, Q7Z5P8

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 5, 2008
Last sequence update:	October 1, 2003
Last modified:	May 29, 2013
This is version 73 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.