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KLHDC7A Gene

protein-coding   GIFtS: 41
GCID: GC01P018807

Kelch Domain Containing 7A

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Kelch Domain Containing 7A1 2
Kelch Domain-Containing Protein 7A2

External Ids:    HGNC: 267911   Entrez Gene: 1277072   Ensembl: ENSG000001790237   UniProtKB: Q5VTJ33   

Export aliases for KLHDC7A gene to outside databases

Previous GC identifers: GC01P018554 GC01P018680 GC01P017055


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for KLHDC7A Gene:
KLHDC7A (kelch domain containing 7A) is a protein-coding gene. An important paralog of this gene is KLHL42.


(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)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NC_018912.2  NT_032977.10  
Regulatory elements:
   Regulatory transcription factor binding sites in the KLHDC7A gene promoter:
         SRF   AhR   NF-1   SRF (504 AA)   AP-4   Arnt   AREB6   PPAR-alpha   MZF-1   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKLHDC7A promoter sequence
   Search Chromatin IP Primers for KLHDC7A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KLHDC7A


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

Entrez Gene cytogenetic band: 1p36.13   Ensembl cytogenetic band:  1p36.13   HGNC cytogenetic band: 1p36.13

KLHDC7A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KLHDC7A gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P018807:  view genomic region     (about GC identifiers)

Start:
18,807,424 bp from pter      End:
18,812,493 bp from pter
Size:
5,070 bases      Orientation:
plus 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: KLD7A_HUMAN, Q5VTJ3 (See protein sequence)
Recommended Name: Kelch domain-containing protein 7A  
Size: 777 amino acids; 84479 Da
Sequence caution: Sequence=BAC04695.1; Type=Erroneous initiation; Sequence=CAH73690.2; Type=Erroneous initiation;
Secondary accessions: Q8N8W6

Explore the universe of human proteins at neXtProt for KLHDC7A: NX_Q5VTJ3

Explore proteomics data for KLHDC7A at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn257
  • Modification sites at PhosphoSitePlus

  • See KLHDC7A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_689588.2  
    ENSEMBL proteins: 
     ENSP00000383505  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR006652 Kelch_1
     IPR015915 Kelch-typ_b-propeller

    Graphical View of Domain Structure for InterPro Entry Q5VTJ3

    ProtoNet protein and cluster: Q5VTJ3

    UniProtKB/Swiss-Prot: KLD7A_HUMAN, Q5VTJ3
    Similarity: Contains 5 Kelch repeats


    Find genes that share domains with KLHDC7A           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    Find genes that share ontologies with KLHDC7A           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for KLHDC7A

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    KLD7A_HUMAN, Q5VTJ3: Membrane; Single-pass membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular2
    cytosol1
    endoplasmic reticulum1
    nucleus1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with KLHDC7A           About GenesLikeMe


    (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).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KLHDC7A
    Interactions:

        Search GeneGlobe Interaction Network for KLHDC7A

    (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)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for KLHDC7A (KLD7A)



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for KLHDC7A gene: 
    NM_152375.2  

    Unigene Cluster for KLHDC7A:

    Kelch domain containing 7A
    Hs.406913  [show with all ESTs]
    Unigene Representative Sequence: NM_152375
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000400664(uc001bax.3)
    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidKLHDC7A 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AK056173.1 AK096072.1 BC101498.1 BC101500.1 

    1 DOTS entry:

    DT.40118808 

    18 AceView cDNA sequences:

    AI084830 AW299244 AI800235 BU684635 AK096072 AK056173 AI609332 BM976939 
    NM_152375 BE170473 AI792005 CA503355 AA989406 AI820608 AI928476 AW614109 
    AA340756 CD637795 

    GeneLoc Exon Structure


    (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)
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    KLHDC7A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    KLHDC7A Expression
    About this image

    KLHDC7A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KLHDC7A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.406913
        Custom PCR Arrays for KLHDC7A
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    In Situ
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    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for KLHDC7A gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Klhdc7a1 , 5 kelch domain containing 7A1, 5 76.51(n)1
    70.22(a)1
      4 (71.03 cM)5
    2427211  NM_173427.21  NP_775603.21 
     1399602205 
    chicken
    (Gallus gallus)
    Aves KLHDC7A1 kelch domain containing 7A 57.6(n)
    50.88(a)
      428170  XM_004947288.1  XP_004947345.1 
    lizard
    (Anolis carolinensis)
    Reptilia KLHDC7A6
    kelch domain containing 7A
    45(a)
    1 ↔ 1
    GL344135.1(67748-76866)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC7997281 kelch domain-containing protein 7A-like 50.51(n)
    44.2(a)
      799728  XM_001340016.5  XP_001340052.2 


    ENSEMBL Gene Tree for KLHDC7A (if available)
    TreeFam Gene Tree for KLHDC7A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KLHDC7A gene
    KLHL422  KLHL132  KLHL222  KLHL262  KLHL342  KLHL312  KBTBD132  KBTBD112  
    KLHL322  KLHL92  KLHL142  KLHL152  KLHDC7B2  KLHL362  KLHL332  
    1 SIMAP similar gene for KLHDC7A using alignment to 3 protein entries:     KLD7A_HUMAN (see all proteins):
    KLHDC7B

    Find genes that share paralogs with KLHDC7A           About GenesLikeMe



    (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)
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    Selected SNPs for KLHDC7A (see all 283)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs23562411,2
    C,A--18805444(+) ACAAGC/GCAGTT 1 -- us2k15Minor allele frequency- G:0.29NA CSA WA EA 361
    rs112610181,2
    C,F,A,H--18805535(+) TGAGAC/TGAGAT 1 -- us2k16Minor allele frequency- T:0.26WA NA EA 364
    rs112610191,2
    C,F,A,H--18805536(+) GAGACG/AAGATG 1 -- us2k17Minor allele frequency- A:0.26NA WA EA 366
    rs112610201,2
    C,F,A,H--18805564(+) AGTGTT/CCACCC 1 -- us2k121Minor allele frequency- C:0.29NS EA NA WA 2334
    rs350567891,2
    C--18805572(+) CCCCAA/GTCCAC 1 -- us2k14Minor allele frequency- G:0.09NA EA 244
    rs120618981,2
    C,F,A--18805678(+) CCTCAA/GGGACT 1 -- us2k18Minor allele frequency- G:0.28NA WA EA 368
    rs13609201,2
    C,F,O,A,H--18805698(-) ATCTGG/ATCTGC 1 -- us2k128Minor allele frequency- A:0.40EA NA NS WA CSA 2564
    rs75218421,2
    C,F,H--18805718(+) AATGCA/GCTTTA 1 -- us2k19Minor allele frequency- G:0.06NS EA NA 658
    rs1496428381,2
    --18805722(+) CACTTC/TACGAT 1 -- us2k10--------
    rs1883799821,2
    --18805799(+) GATCTC/TGGACG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for KLHDC7A (18807424 - 18812493 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for KLHDC7A:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv834336CNV Loss17160897
    nsv871296CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
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    (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.)
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    Find genes that share disorders with KLHDC7A           About GenesLikeMe

    Genetic Association Database (GAD): KLHDC7A
    Human Genome Epidemiology (HuGE) Navigator: KLHDC7A (1 document)

    Export disorders for KLHDC7A 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)
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    PubMed articles for KLHDC7A gene integrated from 10 sources:
    (articles sorted by number of sources associating them with KLHDC7A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    3. Genome-wide meta-analysis for severe diabetic retinopathy. (PubMed id 21441570)1 Grassi M.A....Nicolae D.L. (Hum. Mol. Genet. 2011)
    4. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (Nature 2006)
    5. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 127707 HGNC: 26791 AceView: FLJ38753 Ensembl:ENSG00000179023 euGenes: HUgn127707
    ECgene: KLHDC7A H-InvDB: KLHDC7A

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for KLHDC7A Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for KLHDC7A gene:
    Search GeneIP for patents involving KLHDC7A

    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, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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 genOway)
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