Q86SQ9 (DHDDS_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Dehydrodolichyl diphosphate synthase
Short name=Dedol-PP synthase
EC=2.5.1.-

Gene names

Name:	DHDDS
Synonyms:	HDS

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	333 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Catalyzes cis-prenyl chain elongation to produce the polyprenyl backbone of dolichol, a glycosyl carrier-lipid required for the biosynthesis of several classes of glycoprotein.
Pathway	Protein modification; protein glycosylation.
Tissue specificity	Expressed at high levels in testis and kidney. Slightly expressed in heart, spleen and thymus.
Involvement in disease	Defects in DHDDS are the cause of retinitis pigmentosa type 59 (RP59) [MIM:613861]. RP59 is a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. Ref.6
Sequence similarities	Belongs to the UPP synthase family.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation Retinitis pigmentosa
Molecular function	Transferase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Molecular function	protein binding Inferred from physical interaction. Source: UniProtKB transferase activity, transferring alkyl or aryl (other than methyl) groups Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q86SQ9-1)

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: Q86SQ9-2)

The sequence of this isoform differs from the canonical sequence as follows:
     255-255: Q → QQ

Isoform 3 (identifier: Q86SQ9-3)

The sequence of this isoform differs from the canonical sequence as follows:
     109-147: Missing.

Note: May be due to exon skipping.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 333	333	Dehydrodolichyl diphosphate synthase		PRO_0000123749
Natural variations
	Alternative sequence	109 – 147	39	Missing in isoform 3.		VSP_010030
	Alternative sequence	255	1	Q → QQ in isoform 2.		VSP_010031
	Natural variant	42	1	K → E in RP59. Ref.6		VAR_065356
	Natural variant	253	1	V → M. Ref.2 Ref.5 Corresponds to variant rs3816539 [ dbSNP | Ensembl ].		VAR_028088
Experimental info
	Sequence conflict	151	1	N → Y in BAB14439. Ref.2
	Sequence conflict	277	1	V → E in AAH34152. Ref.5

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 17, 2006. Version 3. Checksum: 12EF3A15437A2583	FASTA	333	38,657
	10 20 30 40 50 60 MSWIKEGELS LWERFCANII KAGPMPKHIA FIMDGNRRYA KKCQVERQEG HSQGFNKLAE 70 80 90 100 110 120 TLRWCLNLGI LEVTVYAFSI ENFKRSKSEV DGLMDLARQK FSRLMEEKEK LQKHGVCIRV 130 140 150 160 170 180 LGDLHLLPLD LQELIAQAVQ ATKNYNKCFL NVCFAYTSRH EISNAVREMA WGVEQGLLDP 190 200 210 220 230 240 SDISESLLDK CLYTNRSPHP DILIRTSGEV RLSDFLLWQT SHSCLVFQPV LWPEYTFWNL 250 260 270 280 290 300 FEAILQFQMN HSVLQKARDM YAEERKRQQL ERDQATVTEQ LLREGLQASG DAQLRRTRLH 310 320 330 KLSARREERV QGFLQALELK RADWLARLGT ASA
	Isoform 2 [UniParc]. Checksum: 8B91F530F1E538E2	FASTA	334	38,786
	10 20 30 40 50 60 MSWIKEGELS LWERFCANII KAGPMPKHIA FIMDGNRRYA KKCQVERQEG HSQGFNKLAE 70 80 90 100 110 120 TLRWCLNLGI LEVTVYAFSI ENFKRSKSEV DGLMDLARQK FSRLMEEKEK LQKHGVCIRV 130 140 150 160 170 180 LGDLHLLPLD LQELIAQAVQ ATKNYNKCFL NVCFAYTSRH EISNAVREMA WGVEQGLLDP 190 200 210 220 230 240 SDISESLLDK CLYTNRSPHP DILIRTSGEV RLSDFLLWQT SHSCLVFQPV LWPEYTFWNL 250 260 270 280 290 300 FEAILQFQMN HSVLQQKARD MYAEERKRQQ LERDQATVTE QLLREGLQAS GDAQLRRTRL 310 320 330 HKLSARREER VQGFLQALEL KRADWLARLG TASA
	Isoform 3 [UniParc]. Checksum: 1EF92BC4658FFDF9	FASTA	294	34,264
	10 20 30 40 50 60 MSWIKEGELS LWERFCANII KAGPMPKHIA FIMDGNRRYA KKCQVERQEG HSQGFNKLAE 70 80 90 100 110 120 TLRWCLNLGI LEVTVYAFSI ENFKRSKSEV DGLMDLARQK FSRLMEEKCF LNVCFAYTSR 130 140 150 160 170 180 HEISNAVREM AWGVEQGLLD PSDISESLLD KCLYTNRSPH PDILIRTSGE VRLSDFLLWQ 190 200 210 220 230 240 TSHSCLVFQP VLWPEYTFWN LFEAILQFQM NHSVLQKARD MYAEERKRQQ LERDQATVTE 250 260 270 280 290 QLLREGLQAS GDAQLRRTRL HKLSARREER VQGFLQALEL KRADWLARLG TASA

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Identification of human dehydrodolichyl diphosphate synthase gene." Endo S., Zhang Y.-W., Takahashi S., Koyama T. Biochim. Biophys. Acta 1625:291-295(2003) [PubMed: 12591616] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Tissue: Testis.
[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] (ISOFORM 2), VARIANT MET-253. Tissue: Teratocarcinoma.
[3]	"The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R. Nature 441:315-321(2006) [PubMed: 16710414] [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 (SEP-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 3), VARIANT MET-253. Tissue: Lung, Muscle and Placenta.
[6]	"Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa." Zuchner S., Dallman J., Wen R., Beecham G., Naj A., Farooq A., Kohli M.A., Whitehead P.L., Hulme W., Konidari I., Edwards Y.J., Cai G., Peter I., Seo D., Buxbaum J.D., Haines J.L., Blanton S., Young J. , Alfonso E., Vance J.M., Lam B.L., Pericak-Vance M.A. Am. J. Hum. Genet. 88:201-206(2011) [PubMed: 21295283] [Abstract] Cited for: VARIANT RP59 GLU-42.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AB090852 mRNA. Translation: BAC57588.1. AK023164 mRNA. Translation: BAB14439.1. AL513365 Genomic DNA. Translation: CAI21495.1. CH471059 Genomic DNA. Translation: EAX07806.1. CH471059 Genomic DNA. Translation: EAX07808.1. CH471059 Genomic DNA. Translation: EAX07809.1. CH471059 Genomic DNA. Translation: EAX07810.1. CH471059 Genomic DNA. Translation: EAX07811.1. CH471059 Genomic DNA. Translation: EAX07812.1. BC003643 mRNA. Translation: AAH03643.1. BC004117 mRNA. Translation: AAH04117.1. BC034152 mRNA. Translation: AAH34152.1.
IPI	IPI00410097. IPI00410099. IPI00514787.
RefSeq	NP_001230493.1. NM_001243564.1. NP_001230494.1. NM_001243565.1. NP_079163.2. NM_024887.3. NP_995583.1. NM_205861.2.
UniGene	Hs.369385.
3D structure databases
ProteinModelPortal	Q86SQ9.
SMR	Q86SQ9. Positions 18-249.
ModBase	Search...
Protein-protein interaction databases
STRING	Q86SQ9.
Polymorphism databases
DMDM	116241329.
Proteomic databases
PRIDE	Q86SQ9.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000357049; ENSP00000349557; ENSG00000117682.
GeneID	79947.
KEGG	hsa:79947.
UCSC	uc001bmk.1. human. uc001bml.1. human. uc001bmn.1. human.
Organism-specific databases
CTD	79947.
GeneCards	GC01P026758.
H-InvDB	HIX0000333.
HGNC	HGNC:20603. DHDDS.
HPA	HPA026721. HPA026727.
MIM	608172. gene. 613861. phenotype.
neXtProt	NX_Q86SQ9.
Orphanet	791. Retinitis pigmentosa.
PharmGKB	PA134867119.
GenAtlas	Search...
Phylogenomic databases
GeneTree	ENSGT00390000007879.
HOVERGEN	HBG051350.
OMA	AFAYTSR.
PhylomeDB	Q86SQ9.
Gene expression databases
ArrayExpress	Q86SQ9.
Bgee	Q86SQ9.
CleanEx	HS_DHDDS.
Genevestigator	Q86SQ9.
GermOnline	ENSG00000117682. Homo sapiens.
Family and domain databases
InterPro	IPR001441. UPP_synth-like. IPR018520. UPP_synth-like_CS. [Graphical view]
Gene3D	G3DSA:3.40.1180.10. UPP_synth. 1 hit.
KO	K11778.
PANTHER	PTHR10291. UPP_synth. 1 hit.
Pfam	PF01255. Prenyltransf. 1 hit. [Graphical view]
SUPFAM	SSF64005. UPP_synth. 1 hit.
TIGRFAMs	TIGR00055. UppS. 1 hit.
PROSITE	PS01066. UPP_SYNTHASE. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	69906.
SOURCE	Search...

Entry information

Entry name

DHDDS_HUMAN

Accession

Primary (citable) accession number: Q86SQ9
Secondary accession number(s): D3DPK7 , D3DPK8, D3DPK9, Q5T0A4, Q8NE90, Q9BTG5, Q9BTK3, Q9H905

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 13, 2004
Last sequence update:	October 17, 2006
Last modified:	January 25, 2012
This is version 82 of the entry and version 3 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.