Aliases for KLHDC7A Gene

Aliases for KLHDC7A Gene

  • Kelch Domain Containing 7A 2 3 5
  • Kelch Domain-Containing Protein 7A 3 4
  • FLJ38753 2
  • KLHDC7A 5

External Ids for KLHDC7A Gene

Previous GeneCards Identifiers for KLHDC7A Gene

  • GC01P018554
  • GC01P018680
  • GC01P018807
  • GC01P017055

Summaries for KLHDC7A Gene

GeneCards Summary for KLHDC7A Gene

KLHDC7A (Kelch Domain Containing 7A) is a Protein Coding gene. Diseases associated with KLHDC7A include Galloway-Mowat Syndrome 5 and Vasculopathy, Retinal, With Cerebral Leukodystrophy. An important paralog of this gene is KLHDC7B.

Additional gene information for KLHDC7A Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KLHDC7A Gene

Genomics for KLHDC7A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KLHDC7A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J018479 Promoter/Enhancer 1.3 Ensembl ENCODE CraniofacialAtlas 638.9 -0.3 -302 2.7 HNRNPL TEAD4 REST TFE3 ZIC2 SP1 POLR2A UBTF ESR1 TGIF2 KLHDC7A piR-38580-001 IGSF21
GH01J018482 Enhancer 0.4 Ensembl 609.8 +1.4 1371 0.2 RFX1 UBTF BMI1 GABPA KLHDC7A lnc-IGSF21-3 PAX7
GH01J018486 Enhancer 0.6 Ensembl 34.2 +5.7 5671 0.8 CTCF GABPA CEBPA CEBPB FOXA2 YY1 CEBPG RAD21 GABPB1 HNF4A KLHDC7A lnc-IGSF21-3 DYNLL1P3 PAX7
GH01J018463 Enhancer 0.9 Ensembl ENCODE 11.9 -16.5 -16495 2 GATAD2A TFE3 ZHX2 FOXA1 SP1 CEBPA SCRT2 CTBP1 FOXA2 ESRRA KLHDC7A piR-38580-001 piR-31534-011 IGSF21
GH01J018443 Enhancer 0.7 Ensembl 16.2 -37.2 -37229 0.2 ZNF740 ZNF766 HDAC2 E2F5 MEF2D GTF2A2 CUX1 ZNF644 HDAC8 ZNF395 KLHDC7A piR-31534-011 HSALNG0001316 IGSF21
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KLHDC7A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KLHDC7A

Top Transcription factor binding sites by QIAGEN in the KLHDC7A gene promoter:
  • AhR
  • AP-4
  • AREB6
  • Arnt
  • MZF-1
  • NF-1
  • Pax-4a
  • PPAR-alpha
  • SRF
  • SRF (504 AA)

Genomic Locations for KLHDC7A Gene

Genomic Locations for KLHDC7A Gene
chr1:18,480,930-18,486,126
(GRCh38/hg38)
Size:
5,197 bases
Orientation:
Plus strand
chr1:18,807,424-18,812,493
(GRCh37/hg19)
Size:
5,070 bases
Orientation:
Plus strand

Genomic View for KLHDC7A Gene

Genes around KLHDC7A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KLHDC7A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KLHDC7A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KLHDC7A Gene

Proteins for KLHDC7A Gene

  • Protein details for KLHDC7A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5VTJ3-KLD7A_HUMAN
    Recommended name:
    Kelch domain-containing protein 7A
    Protein Accession:
    Q5VTJ3
    Secondary Accessions:
    • Q8N8W6

    Protein attributes for KLHDC7A Gene

    Size:
    777 amino acids
    Molecular mass:
    84479 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC04695.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for KLHDC7A Gene

Post-translational modifications for KLHDC7A Gene

  • Glycosylation at Asn257
  • Modification sites at PhosphoSitePlus

Other Protein References for KLHDC7A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KLHDC7A Gene

Domains & Families for KLHDC7A Gene

Gene Families for KLHDC7A Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for KLHDC7A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KLHDC7A Gene

GenScript: Design optimal peptide antigens:
  • KLHDC7A protein (A4FU39_HUMAN)
  • KLHDC7A protein (A7E2V3_HUMAN)
  • Kelch domain-containing protein 7A (KLD7A_HUMAN)
genes like me logo Genes that share domains with KLHDC7A: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for KLHDC7A Gene

Function for KLHDC7A Gene

Phenotypes From GWAS Catalog for KLHDC7A Gene

Gene Ontology (GO) - Molecular Function for KLHDC7A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with KLHDC7A: view

Phenotypes for KLHDC7A Gene

genes like me logo Genes that share phenotypes with KLHDC7A: view

Animal Models for KLHDC7A Gene

MGI Knock Outs for KLHDC7A:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KLHDC7A

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for KLHDC7A Gene

Localization for KLHDC7A Gene

Subcellular locations from UniProtKB/Swiss-Prot for KLHDC7A Gene

Membrane. Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KLHDC7A gene
Compartment Confidence
plasma membrane 1
extracellular 1
peroxisome 1
cytosol 1
nucleus 0
endoplasmic reticulum 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KLHDC7A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with KLHDC7A: view

Pathways & Interactions for KLHDC7A Gene

PathCards logo

SuperPathways for KLHDC7A Gene

No Data Available

Interacting Proteins for KLHDC7A Gene

Gene Ontology (GO) - Biological Process for KLHDC7A Gene

None

No data available for Pathways by source and SIGNOR curated interactions for KLHDC7A Gene

Drugs & Compounds for KLHDC7A Gene

No Compound Related Data Available

Transcripts for KLHDC7A Gene

mRNA/cDNA for KLHDC7A Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KLHDC7A

Alternative Splicing Database (ASD) splice patterns (SP) for KLHDC7A Gene

No ASD Table

Relevant External Links for KLHDC7A Gene

GeneLoc Exon Structure for
KLHDC7A

Expression for KLHDC7A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KLHDC7A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KLHDC7A Gene

This gene is overexpressed in Kidney - Cortex (x23.2) and Liver (x5.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for KLHDC7A Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KLHDC7A

SOURCE GeneReport for Unigene cluster for KLHDC7A Gene:

Hs.406913

Evidence on tissue expression from TISSUES for KLHDC7A Gene

  • Kidney(4.3)
  • Liver(4)
genes like me logo Genes that share expression patterns with KLHDC7A: view

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for KLHDC7A Gene

Orthologs for KLHDC7A Gene

This gene was present in the common ancestor of chordates.

Orthologs for KLHDC7A Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia KLHDC7A 30 31
  • 98.24 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia KLHDC7A 30 31
  • 79.62 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia KLHDC7A 30 31
  • 78.69 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Klhdc7a 30
  • 77.42 (n)
Mouse
(Mus musculus)
Mammalia Klhdc7a 30 17 31
  • 76.51 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia KLHDC7A 31
  • 59 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia KLHDC7A 31
  • 50 (a)
OneToOne
Chicken
(Gallus gallus)
Aves KLHDC7A 30 31
  • 57.6 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia KLHDC7A 31
  • 45 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii LOC799728 30
  • 50.51 (n)
Species where no ortholog for KLHDC7A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for KLHDC7A Gene

ENSEMBL:
Gene Tree for KLHDC7A (if available)
TreeFam:
Gene Tree for KLHDC7A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KLHDC7A: view image

Paralogs for KLHDC7A Gene

(1) SIMAP similar genes for KLHDC7A Gene using alignment to 3 proteins:

  • KLD7A_HUMAN
  • A4FU39_HUMAN
  • A7E2V3_HUMAN
genes like me logo Genes that share paralogs with KLHDC7A: view

Variants for KLHDC7A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KLHDC7A Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
716270 Benign: not provided 18,481,360(+) G/T MISSENSE_VARIANT
716271 Benign: not provided 18,482,525(+) A/G MISSENSE_VARIANT
784933 Benign: not provided 18,481,735(+) C/T NONSENSE
rs2992752 -. - p.Thr147Prop.Thr351Pro
rs11261022 - p.Arg160Ser

Additional dbSNP identifiers (rs#s) for KLHDC7A Gene

Structural Variations from Database of Genomic Variants (DGV) for KLHDC7A Gene

Variant ID Type Subtype PubMed ID
nsv545717 CNV loss 21841781
nsv834336 CNV loss 17160897

Variation tolerance for KLHDC7A Gene

Residual Variation Intolerance Score: 92.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.27; 96.26% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KLHDC7A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KLHDC7A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KLHDC7A Gene

Disorders for KLHDC7A Gene

MalaCards: The human disease database

(3) MalaCards diseases for KLHDC7A Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for KLHDC7A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with KLHDC7A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KLHDC7A Gene

Publications for KLHDC7A Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. Association between LEKR1-CCNL1 and IGSF21-KLHDC7A gene polymorphisms and diabetic retinopathy of type 2 diabetes mellitus in the Chinese Han population. (PMID: 27607899) Lin X … Ma X (The journal of gene medicine 2016) 3
  4. An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. (PMID: 24275569) Bian Y … Zou H (Journal of proteomics 2014) 4
  5. Genome-wide meta-analysis for severe diabetic retinopathy. (PMID: 21441570) Grassi MA … Nicolae DL (Human molecular genetics 2011) 3

Products for KLHDC7A Gene

Sources for KLHDC7A Gene