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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

HDHD1 Gene

protein-coding   GIFtS: 52
GCID: GC0XM006966

Haloacid Dehalogenase-Like Hydrolase Domain Containing 1

(Previous names: family with sequence similarity 16, member A, X-linked,...)
(Previous symbols: FAM16AX, HDHD1A)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Haloacid Dehalogenase-Like Hydrolase Domain Containing 11 2     Haloacid Dehalogenase-Like Hydrolase Domain-Containing Protein 12 3
HDHD1A1 2 3 5     Haloacid Dehalogenase-Like Hydrolase Domain-Containing Protein 1A2 3
FAM16AX1 2 3     5'-PsiMPase2 3
DXF68S1E2 3 5     pseudouridine-5'-monophosphatase2
GS12 3 5     EC 3.1.3.n63
Family With Sequence Similarity 16, Member A, X-Linked1 2     Protein GS13
Haloacid Dehalogenase-Like Hydrolase Domain Containing 1A1 2     

External Ids:    HGNC: 168181   Entrez Gene: 82262   Ensembl: ENSG000001300217   OMIM: 3064805   UniProtKB: Q086233   

Export aliases for HDHD1 gene to outside databases

Previous GC identifer: GC0XM004825


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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. Diseases associated with HDHD1 include x-linked ichthyosis, and ichthyosis. GO annotations related to this gene include phosphatase activity and molecular_function.

UniProtKB/Swiss-Prot: HDHD1_HUMAN, Q08623
Function: Dephosphorylates pseudouridine 5'-phosphate, a potential intermediate in rRNA degradation. Pseudouridine
is then excreted intact in urine

Gene Wiki entry for HDHD1 (HDHD1A) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.2  NT_167197.1  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for HDHD1
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHDHD1 promoter sequence
   Search SABiosciences Chromatin IP Primers for HDHD1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HDHD1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xp22.32   Ensembl cytogenetic band:  Xp22.31   HGNC cytogenetic band: Xp22.32

HDHD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HDHD1 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM006966:  view genomic region     (about GC identifiers)

Start:
6,966,961 bp from pter      End:
7,066,231 bp from pter
Size:
99,271 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: HDHD1_HUMAN, Q08623 (See protein sequence)
Recommended Name: Pseudouridine-5'-monophosphatase  
Size: 228 amino acids; 25249 Da
Cofactor: Magnesium
Sequence caution: Sequence=AAA58622.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAH12494.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAD97125.1;
Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAG35973.1; Type=Erroneous
initiation; Note=Translation N-terminally extended;
1 PDB 3D structure from and Proteopedia for HDHD1:
3L5K (3D)    
Secondary accessions: B2R7X6 B4DV93 B7Z6Q3 E9PAV8 F5GWZ2 Q53F84 Q96EB8
Alternative splicing: 4 isoforms:  Q08623-1   Q08623-2   Q08623-3   Q08623-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for HDHD1: NX_Q08623

Explore proteomics data for HDHD1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q08623

  • HDHD1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    HDHD1 Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_001129037.1  NP_001171606.1  NP_001171607.1  NP_036212.3  

    ENSEMBL proteins: 
     ENSP00000370467   ENSP00000406260   ENSP00000396452   ENSP00000430995   ENSP00000441208  

    Human Recombinant Protein Products for HDHD1: 
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    Novus Biologicals HDHD1 Proteins
    Novus Biologicals HDHD1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for HDHD1
    Cloud-Clone Corp. Proteins for HDHD1 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--

    HDHD1 for ontologies           About GeneDecksing



    HDHD1 Antibody Products: 
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    Assay Products for HDHD1: 
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    Cloud-Clone Corp. ELISAs for HDHD1 
    Cloud-Clone Corp. CLIAs for HDHD1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR023214 HAD-like_dom
     IPR006402 HAD-SF_hydro_IA_v3

    Graphical View of Domain Structure for InterPro Entry Q08623

    ProtoNet protein and cluster: Q08623

    UniProtKB/Swiss-Prot: HDHD1_HUMAN, Q08623
    Similarity: Belongs to the HAD-like hydrolase superfamily. CbbY/CbbZ/Gph/YieH family


    HDHD1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HDHD1_HUMAN, Q08623
    Function: Dephosphorylates pseudouridine 5'-phosphate, a potential intermediate in rRNA degradation. Pseudouridine
    is then excreted intact in urine
    Catalytic activity: pseudouridine 5'-monophosphate + H(2)O = Pseudouridine + phosphate
    Biophysicochemical properties: Kinetic parameters: KM=0.38 uM for 5'-PsiMP; KM=1.5 mM for 3'-AMP; KM=5.9 mM for
    Fructose-6-P; KM=9.4 mM for 5'-UMP;
    Induction: Inhibited by low concentrations of calcium

         Enzyme Number (IUBMB): EC 3.1.3.n61

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0016791phosphatase activity IEA--
    GO:0046872metal ion binding IEA--
         
    HDHD1 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for HDHD1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for HDHD1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HDHD1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HDHD1 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HDHD1
    8/9 QIAGEN miScript miRNA Assays for microRNAs that regulate HDHD1 (see all 9):
    hsa-miR-98 hsa-let-7d hsa-let-7c hsa-let-7i hsa-let-7e hsa-let-7g hsa-let-7b hsa-let-7f
    SwitchGear 3'UTR luciferase reporter plasmidHDHD1 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for HDHD1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HDHD1

    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of HDHD1

    Clone
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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HDHD1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HDHD1

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for HDHD1 (ENSP000003964524) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HSPD1ENSP000003400194STRING: ENSP00000340019
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--
    GO:0009117nucleotide metabolic process IEA--

    HDHD1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for HDHD1

    Search CenterWatch for drugs/clinical trials and news about HDHD1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for HDHD1 gene (4 alternative transcripts): 
    NM_001135565.1  NM_001178135.1  NM_001178136.1  NM_012080.4  

    Unigene Cluster for HDHD1:

    Haloacid dehalogenase-like hydrolase domain containing 1
    Hs.185910  [show with all ESTs]
    Unigene Representative Sequence: NM_001135565
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000381077(uc011mhm.1 uc004crv.2 uc011mhn.1 uc010ndl.2)
    ENST00000412827 ENST00000424830 ENST00000486446 ENST00000498474 ENST00000540122(uc011mho.1)

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HDHD1
    8/9 QIAGEN miScript miRNA Assays for microRNAs that regulate HDHD1 (see all 9):
    hsa-miR-98 hsa-let-7d hsa-let-7c hsa-let-7i hsa-let-7e hsa-let-7g hsa-let-7b hsa-let-7f
    SwitchGear 3'UTR luciferase reporter plasmidHDHD1 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for HDHD1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HDHD1
    Clone
    Products:
         
    OriGene clones in human, mouse for HDHD1 (see all 20)
    OriGene ORF clones in mouse, rat for HDHD1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): HDHD1 (NM_001135565)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HDHD1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HDHD1
    Sirion Biotech Customized lentivirus for stable overexpression of HDHD1 
                         Customized lentivirus expression plasmids for stable overexpression of HDHD1 
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for HDHD1
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat HDHD1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HDHD1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HDHD1

    Additional mRNA sequence: 

    AK223405.1 AK300740.1 AK300985.1 AK307088.1 AK313155.1 BC012494.1 M86934.1 

    6 DOTS entries:

    DT.444385  DT.100775077  DT.121281899  DT.121281904  DT.91770858  DT.95163758 

    24/161 AceView cDNA sequences (see all 161):

    F02417 AA261870 BF439668 AI188494 N40797 F30393 BM710963 F12287 
    NM_012080 F09912 CR607831 BM823757 AL548937 BX330056 F12812 AI927174 
    CR616592 AI248556 AA897577 BU931231 BF056123 BG121428 AA721389 BU622884 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for HDHD1    About this scheme

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


    ECgene alternative splicing isoforms for HDHD1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    HDHD1 expression in normal human tissues (normalized intensities)      HDHD1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAAATCGGGA
    HDHD1 Expression
    About this image


    HDHD1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Placenta (Extraembryonic Tissues)
             placenta   
     
     Uncategorized (Uncategorized)
             PureStem progenitor RP1-MV2-6
     
     Testis (Reproductive System)

    See HDHD1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HDHD1

    SOURCE GeneReport for Unigene cluster: Hs.185910
        SABiosciences Custom PCR Arrays for HDHD1
    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HDHD1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HDHD1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for HDHD1 gene from 10/23 species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hdhd1a1 , 5 haloacid dehalogenase-like hydrolase domain containing more1, 5 74.92(n)1
    71.62(a)1
      18 (27.32 cM)5
    673651  NM_026108.31  NP_080384.21 
     505676565 
    chicken
    (Gallus gallus)
    Aves HDHD11 haloacid dehalogenase-like hydrolase domain containing more 70.1(n)
    70.4(a)
      418655  XM_416851.3  XP_416851.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    HDHD16
    Uncharacterized protein
    62(a)
    53(a)
    possible ortholog
    1 ↔ 1
    3(116947605-117171494)
    2(69780142-69780840)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.110292 Transcribed sequence with moderate similarity to protein more 77.12(n)    142018508 
    zebrafish
    (Danio rerio)
    Actinopterygii hdhd11 haloacid dehalogenase-like hydrolase domain containing more 66.2(n)
    69.01(a)
      553642  NM_001020615.1  NP_001018451.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Gs1l1 GS1-like 58.18(n)
    53.18(a)
      33653  NM_057880.4  NP_477228.1 
    worm
    (Caenorhabditis elegans)
    Secernentea R151.101 hypothetical protein 50.97(n)
    45.29(a)
      176021  NM_066192.4  NP_498593.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes (YKL033W-A)4
    YKL033W-A1
    Putative protein of unknown function; similar to uncharacterized more4
    hypothetical protein1
    44.24(n)1
    37.73(a)1
      11(374505-375215)4
    8538331, 4  NP_012891.41  NP_012891.24 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons GPP11 glycerol-3-phosphatase 1 53.54(n)
    51.13(a)
      828690  NM_118717.2  NP_567731.1 
    rice
    (Oryza sativa)
    Liliopsida Os08g02436001 hypothetical protein 55.01(n)
    50(a)
      4345048  NM_001067882.1  NP_001061347.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HDHD1 gene

    HDHD1 for paralogs           About GeneDecksing


    3 Pseudogenes.org Pseudogenes for HDHD1
    PGOHUM00000244271 PGOHUM00000247512 PGOHUM00000233753


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1360 SNPs in HDHD1 are shown (see all 1360)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs351985911,2
    C--6971247(+) CTAAG-/ATTGTG 3 -- int10--------
    rs2019383661,2
    C--6971249(+) GCTAAA/GTTGTG 3 -- int10--------
    rs3708273621,2
    C--6972450(+) TCTCA-/AAAAAA 3 -- int10--------
    rs627156631,2
    C--6973833(+) AAGAA-/GAATATAA 3 -- int10--------
    rs1447326691,2
    --6979921(+) GCAATC/TTGGCT 3 -- int1 ds50010--------
    rs69821,2
    C,F,O,A,H--6980606(-) CAAACT/CGTAGG 3 -- ut31 ese326Minor allele frequency- C:0.63MN NA NS EA WA CSA 2733
    rs15342761,2
    F,H--6980785(+) AAAGCG/AATTAA 3 -- ut31 ese39Minor allele frequency- A:0.00EA NA MN NS 738
    rs1847216691,2
    --6980861(+) ATACAA/TTCTGA 3 -- ut310--------
    rs1403783691,2
    --6980886(+) TCTATC/GCAAAA 3 -- ut310--------
    rs1503843871,2
    --6981011(+) TAACAA/GTAAAC 3 -- ut310--------

    HapMap Linkage Disequilibrium report for HDHD1 (6966961 - 7066231 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for HDHD1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv273382CNV Insertion20981092


    Locus Specific Mutation Databases (LSDB): HDHD1
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 306480    OMIM disorders: --

    2 diseases for HDHD1:    About MalaCards
    x-linked ichthyosis    ichthyosis

    1 disease from the University of Copenhagen DISEASES database for HDHD1:
    X-linked ichthyosis

    HDHD1 for disorders           About GeneDecksing


    Export disorders for HDHD1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for HDHD1 gene, integrated from 9 sources (see all 12):
    (articles sorted by number of sources associating them with HDHD1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation of a new gene from the distal short arm of the human X chromosome that escapes X-inactivation. (PubMed id 1284467)1, 2, 3 Yen P.H.... Shapiro L. (1992)
    2. HDHD1, which is often deleted in X-linked ichthyosis, encodes a pseudouridine-5'-phosphatase. (PubMed id 20722631)1, 2 Preumont A....Van Schaftingen E. (2010)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. The human enamel protein gene amelogenin is expressed from both the X and the Y chromosomes. (PubMed id 1734713)1, 3 Salido E.C.... Shapiro L.J. (1992)
    5. Cloning and sequencing of ribosomal protein L27a and a gene similar to human GS1 in Drosophila. (PubMed id 9055824)1, 9 Soehnge H....Stern M. (1997)
    6. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    7. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    8. The DNA sequence of the human X chromosome. (PubMed id 15772651)2 Ross M.T.... Bentley D.R. (2005)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
    10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 8226 HGNC: 16818 AceView: HDHD1A Ensembl:ENSG00000130021 euGenes: HUgn8226
    ECgene: HDHD1 H-InvDB: HDHD1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for HDHD1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for HDHD1 gene:
    Search GeneIP for patents involving HDHD1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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