Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Pseudouridine-5'-phosphatase

Gene

HDHD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Dephosphorylates pseudouridine 5'-phosphate, a potential intermediate in rRNA degradation. Pseudouridine is then excreted intact in urine.1 Publication

Catalytic activityi

Pseudouridine 5'-phosphate + H2O = pseudouridine + phosphate.1 Publication

Cofactori

Mg2+1 Publication

Kineticsi

  1. KM=0.38 µM for 5'-PsiMP1 Publication
  2. KM=1.5 mM for 3'-AMP1 Publication
  3. KM=5.9 mM for Fructose-6-P1 Publication
  4. KM=9.4 mM for 5'-UMP1 Publication

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Active sitei14 – 141NucleophileBy similarity
Metal bindingi14 – 141MagnesiumBy similarity
Active sitei16 – 161Proton donorBy similarity
Metal bindingi16 – 161MagnesiumBy similarity

GO - Molecular functioni

  1. hydrolase activity Source: UniProtKB-KW
  2. metal ion binding Source: UniProtKB-KW

GO - Biological processi

  1. nucleotide metabolic process Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Biological processi

Nucleotide metabolism

Keywords - Ligandi

Magnesium, Metal-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Pseudouridine-5'-phosphatase (EC:3.1.3.96)
Alternative name(s):
Haloacid dehalogenase-like hydrolase domain-containing protein 1
Haloacid dehalogenase-like hydrolase domain-containing protein 1A
Protein GS1
Pseudouridine-5'-monophosphatase
Short name:
5'-PsiMPase
Gene namesi
Name:HDHD1
Synonyms:DXF68S1E, FAM16AX, GS1, HDHD1A
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:16818. HDHD1.

Subcellular locationi

GO - Cellular componenti

  1. extracellular vesicular exosome Source: UniProtKB
Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA165756731.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 228228Pseudouridine-5'-phosphatasePRO_0000108068Add
BLAST

Proteomic databases

MaxQBiQ08623.
PaxDbiQ08623.
PRIDEiQ08623.

PTM databases

DEPODiQ08623.
PhosphoSiteiQ08623.

Expressioni

Inductioni

Inhibited by low concentrations of calcium.

Gene expression databases

BgeeiQ08623.
CleanExiHS_HDHD1A.
ExpressionAtlasiQ08623. baseline and differential.
GenevestigatoriQ08623.

Interactioni

Protein-protein interaction databases

BioGridi113859. 2 interactions.
MINTiMINT-5003687.

Structurei

Secondary structure

228
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi1 – 33Combined sources
Beta strandi9 – 146Combined sources
Turni17 – 193Combined sources
Helixi22 – 3615Combined sources
Helixi43 – 497Combined sources
Helixi54 – 6512Combined sources
Helixi71 – 8515Combined sources
Helixi86 – 883Combined sources
Helixi95 – 10410Combined sources
Beta strandi109 – 1124Combined sources
Helixi117 – 1237Combined sources
Turni124 – 1263Combined sources
Helixi128 – 1314Combined sources
Helixi153 – 1608Combined sources
Beta strandi162 – 1643Combined sources
Helixi168 – 1703Combined sources
Beta strandi171 – 1777Combined sources
Helixi178 – 1869Combined sources
Beta strandi190 – 1934Combined sources
Helixi201 – 2033Combined sources
Beta strandi207 – 2104Combined sources
Helixi214 – 2163Combined sources
Helixi219 – 2224Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
3L5KX-ray2.00A1-228[»]
ProteinModelPortaliQ08623.
SMRiQ08623. Positions 1-228.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ08623.

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiCOG0637.
GeneTreeiENSGT00390000014753.
HOGENOMiHOG000248341.
HOVERGENiHBG005917.
KOiK17623.
OMAiERIYTEV.
OrthoDBiEOG7TF79X.
PhylomeDBiQ08623.
TreeFamiTF105946.

Family and domain databases

Gene3Di3.40.50.1000. 2 hits.
InterProiIPR023214. HAD-like_dom.
IPR006439. HAD-SF_hydro_IA.
[Graphical view]
PfamiPF13419. HAD_2. 1 hit.
[Graphical view]
SUPFAMiSSF56784. SSF56784. 1 hit.
TIGRFAMsiTIGR01509. HAD-SF-IA-v3. 1 hit.

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q08623-1) [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
MAAPPQPVTH LIFDMDGLLL DTERLYSVVF QEICNRYDKK YSWDVKSLVM
60 70 80 90 100
GKKALEAAQI IIDVLQLPMS KEELVEESQT KLKEVFPTAA LMPGAEKLII
110 120 130 140 150
HLRKHGIPFA LATSSGSASF DMKTSRHKEF FSLFSHIVLG DDPEVQHGKP
160 170 180 190 200
DPDIFLACAK RFSPPPAMEK CLVFEDAPNG VEAALAAGMQ VVMVPDGNLS
210 220
RDLTTKATLV LNSLQDFQPE LFGLPSYE
Length:228
Mass (Da):25,249
Last modified:November 24, 2009 - v3
Checksum:iEF9B8CC51C122924
GO
Isoform 2 (identifier: Q08623-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     51-93: Missing.

Note: No experimental confirmation available.

Show »
Length:185
Mass (Da):20,529
Checksum:i6AEAE431AC9D25BB
GO
Isoform 3 (identifier: Q08623-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     171-228: CLVFEDAPNG...PELFGLPSYE → SSIHRPRLLT...NQLLLCSDDT

Note: No experimental confirmation available.Curated

Show »
Length:208
Mass (Da):23,283
Checksum:i9BE317B82AA8FF15
GO
Isoform 4 (identifier: Q08623-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     20-20: L → LGYTGSIVAAASGESSRGLQSRWT

Note: No experimental confirmation available.

Show »
Length:251
Mass (Da):27,573
Checksum:i8671CFD416181D12
GO

Sequence cautioni

The sequence AAA58622.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAH12494.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAD97125.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAG35973.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti116 – 1161G → R in AAH12494 (PubMed:15489334).Curated
Sequence conflicti153 – 1531D → G in BAD97125 (PubMed:14702039).Curated
Sequence conflicti191 – 1911V → A in AAA58622 (PubMed:1284467).Curated
Isoform 3 (identifier: Q08623-3)
Sequence conflicti198 – 1981C → S in BAH13339 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti88 – 881T → M.2 Publications
Corresponds to variant rs1131197 [ dbSNP | Ensembl ].
VAR_061094
Natural varianti165 – 1651P → A.
Corresponds to variant rs3747386 [ dbSNP | Ensembl ].
VAR_060625

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei20 – 201L → LGYTGSIVAAASGESSRGLQ SRWT in isoform 4. 1 PublicationVSP_044804
Alternative sequencei51 – 9343Missing in isoform 2. 1 PublicationVSP_040029Add
BLAST
Alternative sequencei171 – 22858CLVFE…LPSYE → SSIHRPRLLTAQKCQGCRDP FSALLLLCNQLLLCSDDT in isoform 3. 1 PublicationVSP_042020Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK300985 mRNA. Translation: BAG62605.1.
AK313155 mRNA. Translation: BAG35973.1. Different initiation.
AK223405 mRNA. Translation: BAD97125.1. Different initiation.
AK300740 mRNA. Translation: BAH13339.1.
AC073583 Genomic DNA. No translation available.
CH471074 Genomic DNA. Translation: EAW98748.1.
BC012494 mRNA. Translation: AAH12494.1. Different initiation.
DR156836 mRNA. No translation available.
M86934 mRNA. Translation: AAA58622.1. Different initiation.
CCDSiCCDS48075.1. [Q08623-1]
CCDS48076.1. [Q08623-4]
CCDS55366.1. [Q08623-3]
CCDS55367.1. [Q08623-2]
RefSeqiNP_001129037.1. NM_001135565.1. [Q08623-4]
NP_001171606.1. NM_001178135.1. [Q08623-3]
NP_001171607.1. NM_001178136.1. [Q08623-2]
NP_036212.3. NM_012080.4. [Q08623-1]
UniGeneiHs.185910.

Genome annotation databases

EnsembliENST00000381077; ENSP00000370467; ENSG00000130021. [Q08623-1]
ENST00000412827; ENSP00000406260; ENSG00000130021. [Q08623-2]
ENST00000424830; ENSP00000396452; ENSG00000130021. [Q08623-4]
ENST00000540122; ENSP00000441208; ENSG00000130021. [Q08623-3]
GeneIDi8226.
KEGGihsa:8226.
UCSCiuc004crv.2. human. [Q08623-1]
uc011mhn.1. human. [Q08623-2]
uc011mho.1. human. [Q08623-3]

Polymorphism databases

DMDMi269849688.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK300985 mRNA. Translation: BAG62605.1.
AK313155 mRNA. Translation: BAG35973.1. Different initiation.
AK223405 mRNA. Translation: BAD97125.1. Different initiation.
AK300740 mRNA. Translation: BAH13339.1.
AC073583 Genomic DNA. No translation available.
CH471074 Genomic DNA. Translation: EAW98748.1.
BC012494 mRNA. Translation: AAH12494.1. Different initiation.
DR156836 mRNA. No translation available.
M86934 mRNA. Translation: AAA58622.1. Different initiation.
CCDSiCCDS48075.1. [Q08623-1]
CCDS48076.1. [Q08623-4]
CCDS55366.1. [Q08623-3]
CCDS55367.1. [Q08623-2]
RefSeqiNP_001129037.1. NM_001135565.1. [Q08623-4]
NP_001171606.1. NM_001178135.1. [Q08623-3]
NP_001171607.1. NM_001178136.1. [Q08623-2]
NP_036212.3. NM_012080.4. [Q08623-1]
UniGeneiHs.185910.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
3L5KX-ray2.00A1-228[»]
ProteinModelPortaliQ08623.
SMRiQ08623. Positions 1-228.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113859. 2 interactions.
MINTiMINT-5003687.

PTM databases

DEPODiQ08623.
PhosphoSiteiQ08623.

Polymorphism databases

DMDMi269849688.

Proteomic databases

MaxQBiQ08623.
PaxDbiQ08623.
PRIDEiQ08623.

Protocols and materials databases

DNASUi8226.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000381077; ENSP00000370467; ENSG00000130021. [Q08623-1]
ENST00000412827; ENSP00000406260; ENSG00000130021. [Q08623-2]
ENST00000424830; ENSP00000396452; ENSG00000130021. [Q08623-4]
ENST00000540122; ENSP00000441208; ENSG00000130021. [Q08623-3]
GeneIDi8226.
KEGGihsa:8226.
UCSCiuc004crv.2. human. [Q08623-1]
uc011mhn.1. human. [Q08623-2]
uc011mho.1. human. [Q08623-3]

Organism-specific databases

CTDi8226.
GeneCardsiGC0XM006966.
HGNCiHGNC:16818. HDHD1.
MIMi306480. gene.
neXtProtiNX_Q08623.
PharmGKBiPA165756731.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG0637.
GeneTreeiENSGT00390000014753.
HOGENOMiHOG000248341.
HOVERGENiHBG005917.
KOiK17623.
OMAiERIYTEV.
OrthoDBiEOG7TF79X.
PhylomeDBiQ08623.
TreeFamiTF105946.

Miscellaneous databases

EvolutionaryTraceiQ08623.
GeneWikiiHDHD1A.
GenomeRNAii8226.
NextBioi30966.
PROiQ08623.
SOURCEiSearch...

Gene expression databases

BgeeiQ08623.
CleanExiHS_HDHD1A.
ExpressionAtlasiQ08623. baseline and differential.
GenevestigatoriQ08623.

Family and domain databases

Gene3Di3.40.50.1000. 2 hits.
InterProiIPR023214. HAD-like_dom.
IPR006439. HAD-SF_hydro_IA.
[Graphical view]
PfamiPF13419. HAD_2. 1 hit.
[Graphical view]
SUPFAMiSSF56784. SSF56784. 1 hit.
TIGRFAMsiTIGR01509. HAD-SF-IA-v3. 1 hit.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "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(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 3), VARIANT MET-88.
    Tissue: Fetal brain, Neuroepithelioma and Small intestine.
  2. Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.
    Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Liver cancer.
  3. "The DNA sequence of the human X chromosome."
    Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
    , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
    Nature 434:325-337(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(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 4).
    Tissue: Embryonic stem cell and Testis.
  6. "Isolation of a new gene from the distal short arm of the human X chromosome that escapes X-inactivation."
    Yen P.H., Ellison J., Salido E.C., Mohandas T., Shapiro L.
    Hum. Mol. Genet. 1:47-52(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 4-228 (ISOFORM 1), VARIANT MET-88.
  7. "HDHD1, which is often deleted in X-linked ichthyosis, encodes a pseudouridine-5'-phosphatase."
    Preumont A., Rzem R., Vertommen D., Van Schaftingen E.
    Biochem. J. 431:237-244(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, COFACTOR, CATALYTIC ACTIVITY, BIOPHYSICOCHEMICAL PROPERTIES.
    Tissue: Erythrocyte.
  8. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  9. "The crystal structure of human haloacid dehalogenase-like hydrolase domain containing 1A (HDHD1A)."
    Structural genomics consortium (SGC)
    Submitted (FEB-2010) to the PDB data bank
    Cited for: X-RAY CRYSTALLOGRAPHY (2.0 ANGSTROMS).

Entry informationi

Entry nameiHDHD1_HUMAN
AccessioniPrimary (citable) accession number: Q08623
Secondary accession number(s): B2R7X6
, B4DV93, B7Z6Q3, E9PAV8, F5GWZ2, Q53F84, Q96EB8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 1, 1995
Last sequence update: November 24, 2009
Last modified: April 1, 2015
This is version 123 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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 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.