Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



HIGD1A Gene

protein-coding   GIFtS: 50
GCID: GC03M042801

HIG1 Hypoxia Inducible Domain Family, Member 1A

(Previous names: HIG1 domain family, member 1A)
  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

TryGeneCards Plus

Aliases
HIG1 Hypoxia Inducible Domain Family, Member 1A1 2     HIG12 3
HIG1 Domain Family, Member 1A1 2     RCF1a2 3
Hypoxia Inducible Gene 11 2     RCF1 Homolog A2 3
Hypoxia-Inducible Gene 1 Protein2 3     HIG1 Domain Family Member 1A, Mitochondrial2

External Ids:    HGNC: 295271   Entrez Gene: 259942   Ensembl: ENSG000001810617   UniProtKB: Q9Y2413   

Export aliases for HIGD1A gene to outside databases


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

TryGeneCards Plus

GeneCards Summary for HIGD1A Gene:
HIGD1A (HIG1 hypoxia inducible domain family, member 1A) is a protein-coding gene. Diseases associated with HIGD1A include hypoxia, and prostatic hypertrophy. An important paralog of this gene is HIGD1B.

UniProtKB/Swiss-Prot: HIG1A_HUMAN, Q9Y241
Function: Proposed subunit of cytochrome c oxidase (COX, complex IV), which is the terminal component of the
mitochondrial respiratory chain that catalyzes the reduction of oxygen to water. May play a role in the assembly
of respiratory supercomplexes

Gene Wiki entry for HIGD1A 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000003.12  NC_018914.2  NT_022517.19  
Regulatory elements:
   Regulatory transcription factor binding sites in the HIGD1A gene promoter:
         HOXA9B   HOXA9   LyF-1   Meis-1   Meis-1b   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHIGD1A promoter sequence
   Search Chromatin IP Primers for HIGD1A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HIGD1A


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

Entrez Gene cytogenetic band: 3p22.1   Ensembl cytogenetic band:  3p22.1   HGNC cytogenetic band: 3p22.1

HIGD1A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HIGD1A gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M042801:  view genomic region     (about GC identifiers)

Start:
42,798,669 bp from pter      End:
42,846,027 bp from pter
Size:
47,359 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: HIG1A_HUMAN, Q9Y241 (See protein sequence)
Recommended Name: HIG1 domain family member 1A, mitochondrial  
Size: 93 amino acids; 10143 Da
Subunit: Associates with cytochrome c oxidase (COX, complex IV); proposed complex component. Also associates with
respratory chain supercomplexes
Sequence caution: Sequence=BG400624; Type=Frameshift; Positions=32;
1 PDB 3D structure from and Proteopedia for HIGD1A:
2LOM (3D)    
Secondary accessions: Q9UFZ2
Alternative splicing: 2 isoforms:  Q9Y241-1   Q9Y241-2   

Explore the universe of human proteins at neXtProt for HIGD1A: NX_Q9Y241

Explore proteomics data for HIGD1A at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys19
  • Modification sites at PhosphoSitePlus

  • See HIGD1A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001093138.1  NP_001093139.1  NP_054775.2  

    ENSEMBL proteins: 
     ENSP00000406044   ENSP00000319393   ENSP00000402160   ENSP00000408289   ENSP00000398064  

    HIGD1A Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for HIGD1A
    OriGene Custom MassSpec
    OriGene Custom Protein Services for HIGD1A
    GenScript Custom Purified and Recombinant Proteins Services for HIGD1A
    Novus Biologicals HIGD1A Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for HIGD1A

    HIGD1A Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for HIGD1A
    OriGene Custom Antibody Services for HIGD1A
    Novus Biologicals HIGD1A Antibody
    Abcam antibodies for HIGD1A
    Cloud-Clone Corp. Antibodies for HIGD1A
    Search ThermoFisher Antibodies for HIGD1A
    LSBio Antibodies in human, mouse, rat for HIGD1A

    HIGD1A Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for HIGD1A
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for HIGD1A
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for HIGD1A
    Cloud-Clone Corp. CLIAs for HIGD1A


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    1 InterPro protein domain:
     IPR007667 Hypoxia_induced_domain

    Graphical View of Domain Structure for InterPro Entry Q9Y241

    ProtoNet protein and cluster: Q9Y241

    UniProtKB/Swiss-Prot: HIG1A_HUMAN, Q9Y241
    Similarity: Contains 1 HIG1 domain


    HIGD1A 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HIG1A_HUMAN, Q9Y241
    Function: Proposed subunit of cytochrome c oxidase (COX, complex IV), which is the terminal component of the
    mitochondrial respiratory chain that catalyzes the reduction of oxygen to water. May play a role in the assembly
    of respiratory supercomplexes
    Induction: By hypoxia

    Phenotypes:
         1 GenomeRNAi human phenotype for HIGD1A:

     Increased cell number in G2M,  

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HIGD1A
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for HIGD1A

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HIGD1A
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HIGD1A

    miRNA
    Products:
        
    miRTarBase miRNAs that target HIGD1A:
    hsa-mir-1 (MIRT023908), hsa-mir-16-5p (MIRT031840), hsa-mir-1301-3p (MIRT036058)

    Block miRNA regulation of human, mouse, rat HIGD1A using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate HIGD1A (see all 38):
    hsa-miR-596 hsa-miR-15a hsa-miR-4272 hsa-miR-3653 hsa-miR-138-2* hsa-miR-192 hsa-miR-4275 hsa-miR-424
    SwitchGear 3'UTR luciferase reporter plasmidHIGD1A 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for HIGD1A
    Predesigned siRNA for gene silencing in human, mouse, rat HIGD1A

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for HIGD1A

    Clone
    Products:
         
    OriGene clones in human, mouse for HIGD1A (see all 17)
    OriGene ORF clones in mouse, rat for HIGD1A
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): HIGD1A (NM_001099668)
    Sino Biological Human cDNA Clone for HIGD1A
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HIGD1A
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HIGD1A

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for HIGD1A
    Browse ESI BIO Cell Lines and PureStem Progenitors for HIGD1A 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HIGD1A


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    HIG1A_HUMAN, Q9Y241: Mitochondrion membrane; Multi-pass membrane protein. Mitochondrion inner membrane (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol2
    extracellular1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005743mitochondrial inner membrane IEA--
    GO:0016021integral component of membrane IEA--
    GO:0043234protein complex IDA--
    GO:0070469respiratory chain IEA--

    HIGD1A for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus




        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for HIGD1A
    Interactions:

        Search GeneGlobe Interaction Network for HIGD1A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for HIGD1A (Q9Y2411, 3 ENSP000003980644) via UniProtKB, MINT, STRING, and/or I2D (see all 29)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CASP4P496621, 3, ENSP000003885664EBI-1051940,EBI-1057327 I2D: score=1 STRING: ENSP00000388566
    SNRPBP146781, 3EBI-1051940,EBI-372458 I2D: score=1 
    PAK7Q9P2861, 3, ENSP000003229574EBI-1051940,EBI-1051061 I2D: score=1 STRING: ENSP00000322957
    MYCP011063, ENSP000003672074I2D: score=3 STRING: ENSP00000367207
    USP32Q8NFA03, ENSP000003008964I2D: score=1 STRING: ENSP00000300896
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006950response to stress IEA--
    GO:0043066negative regulation of apoptotic process IDA--
    GO:0055114oxidation-reduction process IEA--

    HIGD1A for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for HIGD1A (HIG1A)



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for HIGD1A gene (3 alternative transcripts): 
    NM_001099668.1  NM_001099669.1  NM_014056.3  

    Unigene Cluster for HIGD1A:

    HIG1 hypoxia inducible domain family, member 1A
    Hs.593134  [show with all ESTs]
    Unigene Representative Sequence: BF790812
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000431549 ENST00000321331(uc010hid.3 uc003cma.4 uc003cmb.4)
    ENST00000418900 ENST00000470543 ENST00000430190 ENST00000452906
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat HIGD1A using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate HIGD1A (see all 38):
    hsa-miR-596 hsa-miR-15a hsa-miR-4272 hsa-miR-3653 hsa-miR-138-2* hsa-miR-192 hsa-miR-4275 hsa-miR-424
    SwitchGear 3'UTR luciferase reporter plasmidHIGD1A 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for HIGD1A
    Predesigned siRNA for gene silencing in human, mouse, rat HIGD1A
    Clone
    Products:
         
    OriGene clones in human, mouse for HIGD1A (see all 17)
    OriGene ORF clones in mouse, rat for HIGD1A
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): HIGD1A (NM_001099668)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HIGD1A
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HIGD1A
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for HIGD1A
    OriGene qSTAR qPCR primer pairs in human, mouse for HIGD1A
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat HIGD1A
      QuantiTect SYBR Green Assays in human, mouse, rat HIGD1A
      QuantiFast Probe-based Assays in human, mouse, rat HIGD1A

    Additional mRNA sequence: AK225461.1 

    13 DOTS entries:

    DT.91780356  DT.456275  DT.91680071  DT.100883118  DT.100883119  DT.100883128  DT.100045267  DT.100883114 
    DT.120860210  DT.121118912  DT.100883127  DT.120860165  DT.121368348 

    Selected AceView cDNA sequences (see all 1403):

    AA910321 CB987761 BQ424797 BM712060 BM856245 BM768439 CA389299 BP359328 
    CB156204 BM746084 CB145243 AA306451 BF970245 AA356358 CD239689 T30776 
    N75008 AA315977 BP871300 BM045358 BM838217 AL543088 R32429 CD556505 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for HIGD1A (see all 6)    About this scheme

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


    ECgene alternative splicing isoforms for HIGD1A

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    HIGD1A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATCGGGAAT
    HIGD1A Expression
    About this image

    HIGD1A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HIGD1A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.593134
        Custom PCR Arrays for HIGD1A
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for HIGD1A
    OriGene qSTAR qPCR primer pairs in human, mouse for HIGD1A
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat HIGD1A
    QuantiTect SYBR Green Assays in human, mouse, rat HIGD1A
    QuantiFast Probe-based Assays in human, mouse, rat HIGD1A
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HIGD1A

    (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

    TryGeneCards Plus

    This gene was present in the common ancestor of animals.

    Orthologs for HIGD1A gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Higd1a1 , 5 HIG1 domain family, member 1A1, 5 83.51(n)1
    86.02(a)1
      9 (72.67 cM)5
    562951  NM_019814.41  NP_062788.11 
     1218485605 
    chicken
    (Gallus gallus)
    Aves HIGD1A1 HIG1 hypoxia inducible domain family, member 1A 66.3(n)
    68.48(a)
      768335  NM_001030957.1  NP_001026128.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    75(a)
    many ↔ many
    GL343332.1(1387724-1392695)
    African clawed frog
    (Xenopus laevis)
    Amphibia AB095361.12   -- 76.47(n)    AB095361.1 
    zebrafish
    (Danio rerio)
    Actinopterygii AB094785.12   -- 72.2(n)   373084  AB094785.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG118256
    --
    31(a)
    1 → many
    2R(6307919-6309196)


    ENSEMBL Gene Tree for HIGD1A (if available)
    TreeFam Gene Tree for HIGD1A (if available)

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

    TryGeneCards Plus
    Paralogs for HIGD1A gene
    HIGD1B2  HIGD1C2  
    4 SIMAP similar genes for HIGD1A using alignment to 3 protein entries:     HIG1A_HUMAN (see all proteins):
    HIGD1C    HIGD1B    HIGD2A    HIGD2B

    HIGD1A for paralogs           About GeneDecksing


    Selected Pseudogenes.org Pseudogenes for HIGD1A (see all 17)
    PGOHUM00000242327 PGOHUM00000242605 PGOHUM00000239672 PGOHUM00000239771 PGOHUM00000239792


    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for HIGD1A (see all 417)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1887448091,2
    --42823912(+) GTAAGA/CCCTTT 3 -- ds50010--------
    rs577597671,2
    C--42823967(+) ACTGTC/-CCCAT 3 -- ds50011Minor allele frequency- -:0.50CSA 2
    rs784037991,2
    C--42823970(+) GTCCCA/CATTTT 3 -- ds50010--------
    rs746352501,2
    C--42823971(+) TCCCCA/TTTTTA 3 -- ds50010--------
    rs1148158991,2
    C,F--42824017(+) CAGAAC/TCATGA 3 -- ds50011Minor allele frequency- T:0.10WA 118
    rs1928132921,2
    --42824088(+) TTACCA/GTTCTT 3 -- ds50010--------
    rs1841256441,2
    --42824371(+) ACTTAC/TGTAAG 3 -- ds50010--------
    rs1470992111,2
    C--42824392(+) ATGAC-/TTTTAG 3 -- ds50010--------
    rs1470622841,2
    --42824598(+) GGGAAC/TGTTTT 3 -- ut310--------
    rs1898885211,2
    --42824748(+) CAATAA/GTAGTT 3 -- ut310--------

    HapMap Linkage Disequilibrium report for HIGD1A (42798669 - 42846027 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for HIGD1A:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv435763CNV Deletion17901297
    esv1232041CNV Deletion17803354
    esv2725200CNV Deletion23290073
    esv4812CNV Deletion18987735
    esv1004289CNV Deletion20482838
    nsv236207CNV Loss16902084
    esv6998CNV Loss19470904
    nsv513043CNV Loss21212237

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing HIGD1A
    DNA2.0 Custom Variant and Variant Library Synthesis for HIGD1A

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    6 diseases for HIGD1A:    
    About MalaCards
    hypoxia    prostatic hypertrophy    cervical cancer    cervicitis
    obesity    prostatitis


    HIGD1A for disorders           About GeneDecksing

    Genetic Association Database (GAD): HIGD1A
    Human Genome Epidemiology (HuGE) Navigator: HIGD1A (1 document)

    Export disorders for HIGD1A 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

    TryGeneCards Plus

    PubMed articles for HIGD1A gene, integrated from 10 sources (see all 30):
    (articles sorted by number of sources associating them with HIGD1A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2, 3 Wiemann S.... Poustka A. (Genome Res. 2001)
    2. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PubMed id 11042152)1, 2, 3 Zhang Q.-H.... Chen Z. (Genome Res. 2000)
    3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    4. 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. (Genome Res. 2004)
    5. Epigenetic regulation of gene expression in cervical cancer cells by the tumor microenvironment. (PubMed id 10690527)1, 2 Denko N.C....Giaccia A.J. (Clin. Cancer Res. 2000)
    6. Higd-1a interacts with Opa1 and is required for the morphological and functional integrity of mitochondria. (PubMed id 23878241)1 An H.J....Lee H. (Proc. Natl. Acad. Sci. U.S.A. 2013)
    7. Nuclear localization of the mitochondrial factor HIGD1A during metabolic stress. (PubMed id 23646141)1 Ameri K....Maltepe E. (PLoS ONE 2013)
    8. Rcf1 mediates cytochrome oxidase assembly and respirasome formation, revealing heterogeneity of the enzyme complex. (PubMed id 22342701)2 Vukotic M.... Deckers M. (Cell Metab. 2012)
    9. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    10. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Free Text  

      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

    TryGeneCards Plus
    Entrez Gene: 25994 HGNC: 29527 AceView: HIG1 Ensembl:ENSG00000181061 euGenes: HUgn25994
    ECgene: HIGD1A H-InvDB: HIGD1A

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for HIGD1A Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for HIGD1A gene:
    Search GeneIP for patents involving HIGD1A

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for HIGD1A   OriGene RNAi products in human, mouse, rat for HIGD1A  
     OriGene qPCR primer pairs and template standards for HIGD1A   OriGene Protein Over-expression Lysate for HIGD1A  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for HIGD1A  
     OriGene qSTAR qPCR primer pairs in human, mouse for HIGD1A   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for HIGD1A   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for HIGD1A   OriGene Custom Protein Services for HIGD1A  

     
     
     Block miRNA regulation of human, mouse, rat HIGD1A using miScript Target Protectors SeqTarget long-range PCR primers for resequencing HIGD1A
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HIGD1A Predesigned siRNA for gene silencing in human, mouse, rat HIGD1A
     QuantiFast Probe-based Assays in human, mouse, rat HIGD1A QuantiTect SYBR Green Assays in human, mouse, rat HIGD1A
     Custom PCR Arrays for HIGD1A Search Chromatin IP Primers for HIGD1A
     Pre-validated RT2 qPCR Primer Assay in human, mouse / rat HIGD1A  Search GeneGlobe Interaction Network for HIGD1A
     Regulatory tfbs in HIGD1A promoter
     GenScript Custom Purified and Recombinant Proteins Services for HIGD1A GenScript cDNA clones with any tag delivered in your preferred vector for HIGD1A
     GenScript Custom Assay Services for HIGD1A GenScript Custom overexpressing Cell Line Services for HIGD1A
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for HIGD1A (HIG1A)
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     cDNA Clones for HIGD1A
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     HIGD1A antibodies
     HIGD1A lysates
     Antibodies for HIGD1A
     See all of Abcam's Antibodies, Kits and Proteins for HIGD1A
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for HIGD1A
     Antibodies for HIGD1A
     ELISAs for HIGD1A
     CLIAs for HIGD1A



     Browse ESI BIO Cell Lines and PureStem Progenitors for HIGD1A
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HIGD1A
     SwitchGear 3'UTR luciferase reporter plasmids for HIGD1A
     SwitchGear Promoter luciferase reporter plasmids for HIGD1A
     Search ThermoFisher Antibodies for HIGD1A
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HIGD1A
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HIGD1A
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for HIGD1A
     LSBio Antibodies in human, mouse, rat for HIGD1A
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      HIGD1A gene at Home site.
    Version: 3.12.166 28 Aug 2014
    hostname: 356977-web1.xennexinc.com index build: 126 solr: 1.4