Aliases for ABRACL Gene

Aliases for ABRACL Gene

  • ABRA C-Terminal Like 2 3 5
  • Costars Family Protein ABRACL 3 4
  • ABRA C-Terminal-Like Protein 3 4
  • C6orf115 3 4
  • Chromosome 6 Open Reading Frame 115 2
  • Costars 3
  • HSPC280 3
  • PRO2013 3

External Ids for ABRACL Gene

Previous HGNC Symbols for ABRACL Gene

  • C6orf115

Previous GeneCards Identifiers for ABRACL Gene

  • GC06P139349

Summaries for ABRACL Gene

GeneCards Summary for ABRACL Gene

ABRACL (ABRA C-Terminal Like) is a Protein Coding gene. Diseases associated with ABRACL include Splenic Artery Aneurysm.

Additional gene information for ABRACL 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 ABRACL Gene

Genomics for ABRACL Gene

GeneHancer (GH) Regulatory Elements for ABRACL Gene

Promoters and enhancers for ABRACL 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
GH06J139027 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 769 +0.5 519 4 FOXA1 POLR2A USF2 HDAC2 NR2F1 NR2F6 MYC ETV6 ELF1 RELA ABRACL lnc-ABRACL-1 lnc-REPS1-2 HECA CCDC28A RF00017-5811
GH06J139131 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 6.6 +107.5 107519 9.2 ZNF24 SP1 RBPJ POLR2A ATF1 CREB1 ZNF362 ELF1 MAX L3MBTL2 HECA ENSG00000226571 REPS1 ABRACL TXLNB ECT2L piR-47675-094 RF00017-5812
GH06J139168 Enhancer 0.9 Ensembl ENCODE dbSUPER 6.7 +144.5 144519 11.6 IKZF1 IKZF2 DPF2 EHMT2 ELF1 RUNX3 BCLAF1 CTCF FOS ZNF217 HECA REPS1 ENSG00000226571 ABRACL piR-47675-094 piR-48553-281 ENSG00000231329 ENSG00000272446 RF00017-5812 TXLNB
GH06J139124 Enhancer 0.9 ENCODE dbSUPER 6.6 +97.1 97116 2.6 CTCF MYC ELF1 RAD21 ELF3 SP1 CEBPG ZSCAN21 CEBPA REST ABRACL HECA lnc-ABRACL-2 RF00017-5812
GH06J139099 Enhancer 0.6 ENCODE 8.7 +71.5 71518 1.1 RELA CREM ZBED1 IKZF1 IKZF2 DPF2 BCL11A RUNX3 JUNB NBN ABRACL HECA lnc-ABRACL-2 RF00017-5812
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ABRACL on UCSC Golden Path with GeneCards custom track

Genomic Locations for ABRACL Gene

Genomic Locations for ABRACL Gene
chr6:139,028,682-139,043,302
(GRCh38/hg38)
Size:
14,621 bases
Orientation:
Plus strand
chr6:139,349,819-139,364,439
(GRCh37/hg19)
Size:
14,621 bases
Orientation:
Plus strand

Genomic View for ABRACL Gene

Genes around ABRACL on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for ABRACL Gene

Proteins for ABRACL Gene

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

    Protein Symbol:
    Q9P1F3-ABRAL_HUMAN
    Recommended name:
    Costars family protein ABRACL
    Protein Accession:
    Q9P1F3
    Secondary Accessions:
    • Q5SZC8
    • Q9P0A1

    Protein attributes for ABRACL Gene

    Size:
    81 amino acids
    Molecular mass:
    9056 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAF28958.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ABRACL Gene

neXtProt entry for ABRACL Gene

Post-translational modifications for ABRACL Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ABRACL Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ABRACL Gene

Domains & Families for ABRACL Gene

Gene Families for ABRACL Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for ABRACL Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ABRACL Gene

GenScript: Design optimal peptide antigens:
  • Costars family protein C6orf115 (CF115_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9P1F3

UniProtKB/Swiss-Prot:

ABRAL_HUMAN :
  • Belongs to the costars family.
Family:
  • Belongs to the costars family.
genes like me logo Genes that share domains with ABRACL: view

Function for ABRACL Gene

Phenotypes From GWAS Catalog for ABRACL Gene

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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

Clone 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 ABRACL Gene

Localization for ABRACL 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 ABRACL gene
Compartment Confidence
cytosol 3
nucleus 2

Subcellular locations from the

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

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

Pathways & Interactions for ABRACL Gene

PathCards logo

SuperPathways for ABRACL Gene

No Data Available

Interacting Proteins for ABRACL Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 8)
STRING Interaction Network
Selected Interacting proteins: ENSP00000356632 Q9P1F3-ABRAL_HUMAN for ABRACL Gene via STRING IID

Gene Ontology (GO) - Biological Process for ABRACL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032970 regulation of actin filament-based process IBA 21873635
genes like me logo Genes that share ontologies with ABRACL: view

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

Drugs & Compounds for ABRACL Gene

No Compound Related Data Available

Transcripts for ABRACL Gene

mRNA/cDNA for ABRACL Gene

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(103) Selected AceView cDNA sequences:
(2) 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 ABRACL

Clone Products

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

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b
SP1: -
SP2: -
SP3:

Relevant External Links for ABRACL Gene

GeneLoc Exon Structure for
ABRACL
ECgene alternative splicing isoforms for
ABRACL

Expression for ABRACL Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ABRACL Gene

This gene is overexpressed in NK cells (9.3) and Oral epithelium (6.8).

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



Protein tissue co-expression partners for ABRACL Gene

NURSA nuclear receptor signaling pathways regulating expression of ABRACL Gene:

ABRACL

SOURCE GeneReport for Unigene cluster for ABRACL Gene:

Hs.600861

Evidence on tissue expression from TISSUES for ABRACL Gene

  • Nervous system(3.1)
  • Spleen(2)
genes like me logo Genes that share expression patterns with ABRACL: view

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

Orthologs for ABRACL Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ABRACL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ABRACL 33 32
  • 99.18 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ABRACL 33 32
  • 91.77 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ABRACL 33 32
  • 90.95 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Abracl 17 33 32
  • 88.48 (n)
rat
(Rattus norvegicus)
Mammalia Abracl 32
  • 87.24 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ABRACL 33
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ABRACL 33
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves ABRACL 33
  • 84 (a)
OneToOne
C6ORF115 32
  • 80.66 (n)
lizard
(Anolis carolinensis)
Reptilia ABRACL 33
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia abracl 32
  • 79.01 (n)
zebrafish
(Danio rerio)
Actinopterygii abracl 33 32
  • 69.14 (n)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G33640 32
  • 65.38 (n)
rice
(Oryza sativa)
Liliopsida Os03g0690000 32
  • 61.18 (n)
Species where no ortholog for ABRACL 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 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ABRACL Gene

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

Paralogs for ABRACL Gene

(1) SIMAP similar genes for ABRACL Gene using alignment to 2 proteins:

  • ABRAL_HUMAN
  • Q5SZC9_HUMAN
genes like me logo Genes that share paralogs with ABRACL: view

No data available for Paralogs for ABRACL Gene

Variants for ABRACL Gene

Sequence variations from dbSNP and Humsavar for ABRACL Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1000303029 -- 139,036,428(+) A/C/T intron_variant
rs1000440422 -- 139,036,142(+) T/C/G intron_variant
rs1000569400 -- 139,029,386(+) G/A intron_variant
rs1000640733 -- 139,037,626(+) C/T intron_variant
rs1000676420 -- 139,035,466(+) A/G intron_variant

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

Variant ID Type Subtype PubMed ID
nsv478447 CNV novel sequence insertion 20440878
nsv510052 OTHER sequence alteration 20534489

Variation tolerance for ABRACL Gene

Residual Variation Intolerance Score: 45% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.19; 4.29% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ABRACL Gene

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

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

Disorders for ABRACL Gene

MalaCards: The human disease database

(1) MalaCards diseases for ABRACL Gene - From: DISEASES

Disorder Aliases PubMed IDs
splenic artery aneurysm
  • aneurysm of splenic artery
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ABRACL

genes like me logo Genes that share disorders with ABRACL: view

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

Publications for ABRACL Gene

  1. Solution structure of the human HSPC280 protein. (PMID: 21082705) Lin J … Wang J (Protein science : a publication of the Protein Society 2011) 2 3 4 56
  2. 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 56
  3. Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PMID: 12665801) Gevaert K … Vandekerckhove J (Nature biotechnology 2003) 3 4 56
  4. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PMID: 11042152) Zhang QH … Chen Z (Genome research 2000) 3 4 56
  5. N-terminome analysis of the human mitochondrial proteome. (PMID: 25944712) Vaca Jacome AS … Carapito C (Proteomics 2015) 4 56

Products for ABRACL Gene

Sources for ABRACL Gene