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Aliases for HDHD1 Gene

Aliases for HDHD1 Gene

  • Haloacid Dehalogenase-Like Hydrolase Domain Containing 1 2 3
  • DXF68S1E 3 4 6
  • HDHD1A 3 4 6
  • GS1 3 4 6
  • Haloacid Dehalogenase-Like Hydrolase Domain-Containing Protein 1A 3 4
  • Haloacid Dehalogenase-Like Hydrolase Domain-Containing Protein 1 3 4
  • Haloacid Dehalogenase-Like Hydrolase Domain Containing 1A 2 3
  • Family With Sequence Similarity 16, Member A, X-Linked 2 3
  • Pseudouridine-5-Monophosphatase 3 4
  • 5-PsiMPase 3 4
  • FAM16AX 3 4
  • Pseudouridine-5-Phosphatase 3
  • Protein GS1 4
  • EC 3.1.3.96 4

External Ids for HDHD1 Gene

Previous Symbols for HDHD1 Gene

  • FAM16AX
  • HDHD1A

Summaries for HDHD1 Gene

Entrez Gene Summary for HDHD1 Gene

  • This gene encodes a member of the haloacid dehalogenase-like (HAD) hydrolase superfamily. The encoded protein has no known biological function. This gene has a pseudogene on chromosome 1. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2010]

GeneCards Summary for HDHD1 Gene

HDHD1 (Haloacid Dehalogenase-Like Hydrolase Domain Containing 1) is a Protein Coding gene. GO annotations related to this gene include phosphatase activity.

UniProtKB/Swiss-Prot for HDHD1 Gene

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

Gene Wiki entry for HDHD1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HDHD1 Gene

Genomics for HDHD1 Gene

Genomic Location for HDHD1 Gene

Start:
7,048,920 bp from pter
End:
7,148,190 bp from pter
Size:
99,271 bases
Orientation:
Minus strand

Genomic View for HDHD1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HDHD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HDHD1 Gene

No data available for Regulatory Elements for HDHD1 Gene

Proteins for HDHD1 Gene

  • Protein details for HDHD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q08623-HDHD1_HUMAN
    Recommended name:
    Pseudouridine-5-phosphatase
    Protein Accession:
    Q08623
    Secondary Accessions:
    • B2R7X6
    • B4DV93
    • B7Z6Q3
    • E9PAV8
    • F5GWZ2
    • Q53F84
    • Q96EB8

    Protein attributes for HDHD1 Gene

    Size:
    228 amino acids
    Molecular mass:
    25249 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAA58622.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH12494.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAD97125.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAG35973.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for HDHD1 Gene

    Alternative splice isoforms for HDHD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HDHD1 Gene

Proteomics data for HDHD1 Gene at MOPED

Post-translational modifications for HDHD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for HDHD1 Gene

Domains for HDHD1 Gene

Protein Domains for HDHD1 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

HDHD1_HUMAN
Family:
  • Belongs to the HAD-like hydrolase superfamily. CbbY/CbbZ/Gph/YieH family.:
    • Q08623
genes like me logo Genes that share domains with HDHD1: view

No data available for Gene Families for HDHD1 Gene

Function for HDHD1 Gene

Molecular function for HDHD1 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties: Kinetic parameters: KM=0.38 uM for 5-PsiMP {ECO:0000269 PubMed:20722631}; KM=1.5 mM for 3-AMP {ECO:0000269 PubMed:20722631}; KM=5.9 mM for Fructose-6-P {ECO:0000269 PubMed:20722631}; KM=9.4 mM for 5-UMP {ECO:0000269 PubMed:20722631};
UniProtKB/Swiss-Prot CatalyticActivity: Pseudouridine 5-phosphate + H(2)O = pseudouridine + phosphate.
UniProtKB/Swiss-Prot Function: Dephosphorylates pseudouridine 5-phosphate, a potential intermediate in rRNA degradation. Pseudouridine is then excreted intact in urine.
UniProtKB/Swiss-Prot Induction: Inhibited by low concentrations of calcium

Enzyme Numbers (IUBMB) for HDHD1 Gene

Gene Ontology (GO) - Molecular Function for HDHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0016787 hydrolase activity IEA --
GO:0016791 phosphatase activity --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with HDHD1: view

miRNA for HDHD1 Gene

No data available for Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for HDHD1 Gene

Localization for HDHD1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HDHD1 Gene COMPARTMENTS Subcellular localization image for HDHD1 gene
Compartment Confidence
cytosol 2
endoplasmic reticulum 1
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for HDHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with HDHD1: view

Pathways for HDHD1 Gene

SuperPathways for HDHD1 Gene

No Data Available

Interacting Proteins for HDHD1 Gene

Gene Ontology (GO) - Biological Process for HDHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
GO:0008152 metabolic process --
GO:0009117 nucleotide metabolic process IEA --
GO:0016311 dephosphorylation --
genes like me logo Genes that share ontologies with HDHD1: view

No data available for Pathways by source for HDHD1 Gene

Transcripts for HDHD1 Gene

Unigene Clusters for HDHD1 Gene

Haloacid dehalogenase-like hydrolase domain containing 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HDHD1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b
SP1: - -
SP2: - - -
SP3: - -
SP4: - -
SP5: - - - - - - -

Relevant External Links for HDHD1 Gene

GeneLoc Exon Structure for
HDHD1
ECgene alternative splicing isoforms for
HDHD1

Expression for HDHD1 Gene

mRNA expression in normal human tissues for HDHD1 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for HDHD1 Gene

SOURCE GeneReport for Unigene cluster for HDHD1 Gene Hs.185910

genes like me logo Genes that share expressions with HDHD1: view

Orthologs for HDHD1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HDHD1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia HDHD1 36
  • 77.78 (n)
  • 81.58 (a)
HDHD1A 37
  • 79 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HDHD1 36
  • 83.19 (n)
  • 86.28 (a)
HDHD1 37
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hdhd1a 36
  • 74.92 (n)
  • 71.62 (a)
Hdhd1a 16
Hdhd1a 37
  • 68 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 62 (a)
OneToMany
-- 37
  • 65 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia HDHD1 37
  • 63 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hdhd1 36
  • 75.19 (n)
  • 73.54 (a)
chicken
(Gallus gallus)
Aves HDHD1 36
  • 70.1 (n)
  • 70.4 (a)
HDHD1 37
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 53 (a)
OneToMany
-- 37
  • 62 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia hdhd1 36
  • 67.6 (n)
  • 73.36 (a)
Str.11029 36
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5250 36
zebrafish
(Danio rerio)
Actinopterygii hdhd1 36
  • 66.2 (n)
  • 69.01 (a)
hdhd1 37
  • 66 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003372 36
  • 59.09 (n)
  • 55.45 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG31924 37
  • 43 (a)
OneToMany
CG5556 37
  • 21 (a)
OneToMany
CG5561 37
  • 22 (a)
OneToMany
CG5565 37
  • 40 (a)
OneToMany
Gs1l 36
  • 58.18 (n)
  • 53.18 (a)
Gs1l 37
  • 50 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea R151.10 37
  • 42 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 37
  • 33 (a)
OneToOne
-- 39
thale cress
(Arabidopsis thaliana)
eudicotyledons GPP1 36
  • 53.54 (n)
  • 51.13 (a)
rice
(Oryza sativa)
Liliopsida Os08g0243600 36
  • 55.01 (n)
  • 50 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.6535 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 49 (a)
OneToOne
Species with no ortholog for HDHD1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for HDHD1 Gene

ENSEMBL:
Gene Tree for HDHD1 (if available)
TreeFam:
Gene Tree for HDHD1 (if available)

Paralogs for HDHD1 Gene

Pseudogenes.org Pseudogenes for HDHD1 Gene

genes like me logo Genes that share paralogs with HDHD1: view

No data available for Paralogs for HDHD1 Gene

Variants for HDHD1 Gene

Sequence variations from dbSNP and Humsavar for HDHD1 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs6982 -- 7,049,134(-) CAAAC(C/T)GTAGG utr-variant-3-prime
rs10458 -- 7,049,970(-) ATACA(C/T)GTGTG utr-variant-3-prime
rs868756 -- 7,057,741(-) TCTGT(C/G)TAATC intron-variant, missense, reference
rs869505 -- 7,129,901(-) CCATT(C/G)CCCTT intron-variant
rs871283 -- 7,145,359(-) TCCCA(A/G)TTTCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HDHD1 Gene

Variant ID Type Subtype PubMed ID
esv273382 CNV Insertion 20981092

Relevant External Links for HDHD1 Gene

HapMap Linkage Disequilibrium report
HDHD1
Locus Specific Mutation Databases (LSDB)
HDHD1

Disorders for HDHD1 Gene

(1) University of Copenhagen DISEASES for HDHD1 Gene

genes like me logo Genes that share disorders with HDHD1: view

No data available for UniProtKB/Swiss-Prot for HDHD1 Gene

Publications for HDHD1 Gene

  1. Isolation of a new gene from the distal short arm of the human X chromosome that escapes X-inactivation. (PMID: 1284467) Yen P.H. … Shapiro L. (Hum. Mol. Genet. 1992) 2 3 4
  2. The human enamel protein gene amelogenin is expressed from both the X and the Y chromosomes. (PMID: 1734713) Salido E.C. … Shapiro L.J. (Am. J. Hum. Genet. 1992) 2 3
  3. HDHD1, which is often deleted in X-linked ichthyosis, encodes a pseudouridine-5'-phosphatase. (PMID: 20722631) Preumont A. … Van Schaftingen E. (Biochem. J. 2010) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. Cloning and sequencing of ribosomal protein L27a and a gene similar to human GS1 in Drosophila. (PMID: 9055824) Soehnge H. … Stern M. (Gene 1997) 3 23

Products for HDHD1 Gene

  • Addgene plasmids for HDHD1

Sources for HDHD1 Gene

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