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Aliases for CLBA1 Gene

Aliases for CLBA1 Gene

  • Clathrin Binding Box Of Aftiphilin Containing 1 2 3
  • C14orf79 3 4 5
  • Chromosome 14 Open Reading Frame 79 2 5
  • Uncharacterized Protein C14orf79 3

External Ids for CLBA1 Gene

Previous HGNC Symbols for CLBA1 Gene

  • C14orf79

Summaries for CLBA1 Gene

GeneCards Summary for CLBA1 Gene

CLBA1 (Clathrin Binding Box Of Aftiphilin Containing 1) is a Protein Coding gene.

Gene Wiki entry for CLBA1 Gene

Additional gene information for CLBA1 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CLBA1 Gene

Genomics for CLBA1 Gene

Regulatory Elements for CLBA1 Gene

Enhancers for CLBA1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14H105013 1.6 Ensembl ENCODE dbSUPER 36.4 +35.6 35584 14 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZBTB7B ZNF207 ZNF143 CLBA1 GPR132 AHNAK2 CDCA4 GC14P105029
GH14H104966 1.9 FANTOM5 Ensembl ENCODE dbSUPER 24.9 -13.5 -13506 11 HDGF PKNOX1 ZFP64 ARID4B SIN3A ZNF2 ZBTB7B ZNF207 ZNF143 FOS MTA1 CLBA1 AHNAK2 BRF1 CDCA4 LINC00638 ENSG00000257270 GPR132 IGHE CEP170B
GH14H104980 1.3 ENCODE dbSUPER 28.1 -4.6 -4613 4 ZNF133 FEZF1 GLI4 ZNF2 ZBTB7B YY1 GLIS2 GATA2 ZNF207 FOS MTA1 ENSG00000257270 CLBA1 CDCA4 ENSG00000225200 TMEM121 RPS20P33 PACS2 AKT1 AHNAK2
GH14H104984 1.2 ENCODE dbSUPER 26.5 -0.2 -197 2 HDGF ATF1 ARID4B SIN3A ELK1 ZNF143 SP3 MXD4 REST RFX3 CLBA1 AHNAK2 GPR132 CRIP2
GH14H105074 1.7 FANTOM5 Ensembl ENCODE dbSUPER 16.5 +89.8 89804 2 TBP HDGF KLF1 BACH1 KLF17 ZIC2 HIC1 ZFHX2 GLIS2 NCOR1 GPR132 CLBA1 JAG2 NUDT14 LINC02298 PLD4 CRIP1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CLBA1 on UCSC Golden Path with GeneCards custom track

Promoters for CLBA1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000073746 25 1201 HDGF ATF1 ARID4B SIN3A ELK1 ZNF143 SP3 MXD4 REST RFX3

Genomic Location for CLBA1 Gene

Chromosome:
14
Start:
104,985,775 bp from pter
End:
105,010,482 bp from pter
Size:
24,708 bases
Orientation:
Plus strand

Genomic View for CLBA1 Gene

Genes around CLBA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CLBA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CLBA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CLBA1 Gene

Proteins for CLBA1 Gene

  • Protein details for CLBA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96F83-CN079_HUMAN
    Recommended name:
    Uncharacterized protein C14orf79
    Protein Accession:
    Q96F83
    Secondary Accessions:
    • B2RPK9
    • Q9BTP4

    Protein attributes for CLBA1 Gene

    Size:
    325 amino acids
    Molecular mass:
    35690 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CLBA1 Gene

Post-translational modifications for CLBA1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CLBA1 Gene

Domains & Families for CLBA1 Gene

Gene Families for CLBA1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CLBA1 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CLBA1: view

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for CLBA1 Gene

Function for CLBA1 Gene

Phenotypes From GWAS Catalog for CLBA1 Gene

genes like me logo Genes that share phenotypes with CLBA1: view

Animal Model Products

miRNA for CLBA1 Gene

miRTarBase miRNAs that target CLBA1

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CLBA1 Gene

Localization for CLBA1 Gene

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 CLBA1 gene
Compartment Confidence
nucleus 3
cytosol 3
plasma membrane 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nuclear bodies (2)
  • Nucleoplasm (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for CLBA1 Gene

Pathways & Interactions for CLBA1 Gene

SuperPathways for CLBA1 Gene

No Data Available

Interacting Proteins for CLBA1 Gene

Gene Ontology (GO) - Biological Process for CLBA1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CLBA1 Gene

Drugs & Compounds for CLBA1 Gene

No Compound Related Data Available

Transcripts for CLBA1 Gene

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for CLBA1 Gene

No ASD Table

Relevant External Links for CLBA1 Gene

GeneLoc Exon Structure for
CLBA1
ECgene alternative splicing isoforms for
CLBA1

Expression for CLBA1 Gene

NURSA nuclear receptor signaling pathways regulating expression of CLBA1 Gene:

CLBA1
No Expression Related Data Available

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for CLBA1 Gene

Orthologs for CLBA1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CLBA1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C14ORF79 34
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C21H14orf79 33
  • 72.96 (n)
C14orf79 34
  • 51 (a)
OneToOne
mouse
(Mus musculus)
Mammalia BC022687 33 16 34
  • 72.2 (n)
rat
(Rattus norvegicus)
Mammalia RGD1307315 33
  • 71.16 (n)
dog
(Canis familiaris)
Mammalia C14orf79 34
  • 52 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C14orf79 34
  • 41 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C14orf79 34
  • 34 (a)
OneToOne
chicken
(Gallus gallus)
Aves C5H14ORF79 33
  • 53.74 (n)
C14orf79 34
  • 28 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C14orf79 34
  • 37 (a)
OneToOne
Species where no ortholog for CLBA1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)
  • zebrafish (Danio rerio)

Evolution for CLBA1 Gene

ENSEMBL:
Gene Tree for CLBA1 (if available)
TreeFam:
Gene Tree for CLBA1 (if available)

Paralogs for CLBA1 Gene

No data available for Paralogs for CLBA1 Gene

Variants for CLBA1 Gene

Sequence variations from dbSNP and Humsavar for CLBA1 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs1000277734 -- 104,998,196(+) GAGGC(C/T)GGGAG intron-variant
rs1000469163 -- 104,984,134(+) GGGTG(A/G)GGAAT upstream-variant-2KB
rs1000834875 -- 104,993,943(+) AGCAC(-/AGG)AGGCA intron-variant, cds-indel
rs1000970133 -- 104,994,173(+) ATGTT(C/T)GTGGC intron-variant, utr-variant-3-prime
rs1001040374 -- 104,988,846(+) AATTA(A/C)AAATT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CLBA1 Gene

Variant ID Type Subtype PubMed ID
esv3635634 CNV gain 21293372
nsv1042303 CNV gain 25217958
nsv1049253 CNV gain 25217958
nsv1052190 CNV gain 25217958
nsv1054574 CNV loss 25217958
nsv1438 CNV deletion 18451855
nsv456458 CNV loss 19166990
nsv566141 CNV gain 21841781
nsv566150 CNV loss 21841781
nsv566151 CNV loss 21841781
nsv566152 CNV loss 21841781
nsv952276 CNV deletion 24416366

Variation tolerance for CLBA1 Gene

Residual Variation Intolerance Score: 76.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.55; 30.00% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CLBA1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CLBA1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CLBA1 Gene

Disorders for CLBA1 Gene

Relevant External Links for CLBA1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CLBA1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CLBA1

No disorders were found for CLBA1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CLBA1 Gene

Publications for CLBA1 Gene

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  2. The DNA sequence and analysis of human chromosome 14. (PMID: 12508121) Heilig R … Weissenbach J (Nature 2003) 3 4 60
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  4. Humoral detection of leukaemia-associated antigens in presentation acute myeloid leukaemia. (PMID: 16112646) Guinn BA … Mufti GJ (Biochemical and biophysical research communications 2005) 3 60
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 60

Products for CLBA1 Gene

Sources for CLBA1 Gene

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