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Aliases for AIF1L Gene

Aliases for AIF1L Gene

  • Allograft Inflammatory Factor 1 Like 2 3 5
  • Allograft Inflammatory Factor 1-Like 2 3
  • C9orf58 3 4
  • IBA2 3 4
  • Ionized Calcium Binding Adapter Molecule 2 3
  • Ionized Calcium-Binding Adapter Molecule 2 4
  • Chromosome 9 Open Reading Frame 58 2

External Ids for AIF1L Gene

Previous HGNC Symbols for AIF1L Gene

  • C9orf58

Previous GeneCards Identifiers for AIF1L Gene

  • GC09P132962
  • GC09P133971
  • GC09P103462

Summaries for AIF1L Gene

GeneCards Summary for AIF1L Gene

AIF1L (Allograft Inflammatory Factor 1 Like) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include calcium ion binding and actin filament binding. An important paralog of this gene is AIF1.

UniProtKB/Swiss-Prot for AIF1L Gene

  • Actin-binding protein that promotes actin bundling. May neither bind calcium nor depend on calcium for function.

Gene Wiki entry for AIF1L Gene

Additional gene information for AIF1L Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AIF1L Gene

Genomics for AIF1L Gene

GeneHancer (GH) Regulatory Elements for AIF1L Gene

Promoters and enhancers for AIF1L 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
GH09J131095 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 671.3 +1.3 1308 3.9 CLOCK KLF17 MZF1 SIN3A KLF14 ETS1 ZNF335 ZNF121 GLIS2 SCRT2 AIF1L NUP214 RNU6-881P QRFP PIR35044
GH09J131094 Enhancer 0.8 ENCODE dbSUPER 685.2 -1.6 -1640 1.2 SOX5 KLF1 TFAP4 SAP130 TEAD1 MLX MAX MNT TEAD3 ZNF217 AIF1L ENSG00000252582 LAMC3
GH09J131100 Enhancer 1 Ensembl ENCODE dbSUPER 37.5 +5.9 5938 4.3 SRF USF2 EBF1 ZIC2 ZNF514 ZNF121 ZNF335 ZFHX2 GATA3 POLR2A AIF1L FUBP3 EXOSC2 ABL1 RNU6-881P NUP214 PRRC2B QRFP PIR35044
GH09J131124 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 11.8 +29.4 29354 2.5 PKNOX1 CLOCK FOXA2 SMAD1 ARID4B SIN3A DMAP1 YBX1 ZNF2 IRF4 NUP214 RNU6-881P ENSG00000236687 EXOSC2 AIF1L ENSG00000236986 ENSG00000246851 FAM78A PRRC2B
GH09J131092 Enhancer 0.7 ENCODE dbSUPER 21.5 -3.8 -3784 0.9 SMARCE1 ZNF217 CTBP1 GATAD2B DPF2 AIF1L ENSG00000252582 LAMC3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AIF1L on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the AIF1L gene promoter:
  • p53
  • Evi-1
  • USF1
  • USF-1
  • USF-1:USF-2
  • USF2
  • NRSF form 1
  • NRSF form 2
  • Arnt
  • AhR

Genomic Locations for AIF1L Gene

Genomic Locations for AIF1L Gene
chr9:131,096,476-131,123,152
(GRCh38/hg38)
Size:
26,677 bases
Orientation:
Plus strand
chr9:133,971,863-133,998,539
(GRCh37/hg19)
Size:
26,677 bases
Orientation:
Plus strand

Genomic View for AIF1L Gene

Genes around AIF1L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AIF1L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AIF1L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AIF1L Gene

Proteins for AIF1L Gene

  • Protein details for AIF1L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BQI0-AIF1L_HUMAN
    Recommended name:
    Allograft inflammatory factor 1-like
    Protein Accession:
    Q9BQI0
    Secondary Accessions:
    • B2RBC4
    • Q6ZR40
    • Q8NAX7
    • Q8WU47
    • Q9H9G0

    Protein attributes for AIF1L Gene

    Size:
    150 amino acids
    Molecular mass:
    17068 Da
    Quaternary structure:
    • Homodimer (Potential). Monomer.

    Three dimensional structures from OCA and Proteopedia for AIF1L Gene

    Alternative splice isoforms for AIF1L Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AIF1L Gene

Post-translational modifications for AIF1L Gene

  • Ubiquitination at posLast=1313
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for AIF1L Gene

Domains & Families for AIF1L Gene

Gene Families for AIF1L Gene

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

Protein Domains for AIF1L Gene

Suggested Antigen Peptide Sequences for AIF1L Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with AIF1L: view

No data available for UniProtKB/Swiss-Prot for AIF1L Gene

Function for AIF1L Gene

Molecular function for AIF1L Gene

UniProtKB/Swiss-Prot Function:
Actin-binding protein that promotes actin bundling. May neither bind calcium nor depend on calcium for function.

Phenotypes From GWAS Catalog for AIF1L Gene

Gene Ontology (GO) - Molecular Function for AIF1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0046872 metal ion binding IEA --
GO:0051015 actin filament binding IDA 18699778
genes like me logo Genes that share ontologies with AIF1L: view
genes like me logo Genes that share phenotypes with AIF1L: view

Animal Models for AIF1L Gene

MGI Knock Outs for AIF1L:
  • Aif1l Aif1l<tm1b(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

miRNA for AIF1L Gene

miRTarBase miRNAs that target AIF1L

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AIF1L

Clone Products

  • Addgene plasmids for AIF1L

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for AIF1L Gene

Localization for AIF1L Gene

Subcellular locations from UniProtKB/Swiss-Prot for AIF1L Gene

Cytoplasm, cytoskeleton. Cell projection, ruffle membrane; Peripheral membrane protein; Cytoplasmic side. Note=Colocalizes with F-actin. Partially relocates to membrane ruffles in response to invading bacteria.

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 AIF1L gene
Compartment Confidence
extracellular 5
cytoskeleton 4
plasma membrane 3
cytosol 2
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for AIF1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005884 colocalizes_with actin filament IDA 18699778
GO:0005886 plasma membrane IEA --
GO:0005925 focal adhesion IDA --
genes like me logo Genes that share ontologies with AIF1L: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for AIF1L Gene

Pathways & Interactions for AIF1L Gene

SuperPathways for AIF1L Gene

No Data Available

Interacting Proteins for AIF1L Gene

Gene Ontology (GO) - Biological Process for AIF1L Gene

None

No data available for Pathways by source and SIGNOR curated interactions for AIF1L Gene

Drugs & Compounds for AIF1L Gene

No Compound Related Data Available

Transcripts for AIF1L Gene

Unigene Clusters for AIF1L Gene

Allograft inflammatory factor 1-like:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AIF1L

Clone Products

  • Addgene plasmids for AIF1L

Alternative Splicing Database (ASD) splice patterns (SP) for AIF1L Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b · 7c ^ 8a · 8b · 8c ^ 9a · 9b · 9c ^ 10a · 10b · 10c ^ 11
SP1: - - - - - - - - -
SP2: - - - - - - - - - - -
SP3: - - - - - - - - - - - - - - - -
SP4: - - - - - - - - - - - - -
SP5: - - - - - - - - - - - - -
SP6: - - - - - - - -
SP7: - - - - - - -
SP8: - - - - - - - - - -
SP9: - - - -
SP10: -
SP11: - - - - - - - -
SP12: - - - - - - -
SP13:

Relevant External Links for AIF1L Gene

GeneLoc Exon Structure for
AIF1L
ECgene alternative splicing isoforms for
AIF1L

Expression for AIF1L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AIF1L Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AIF1L Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x5.9) and Kidney - Cortex (x5.0).

Protein differential expression in normal tissues from HIPED for AIF1L Gene

This gene is overexpressed in Milk (23.7) and Adrenal (15.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for AIF1L Gene



NURSA nuclear receptor signaling pathways regulating expression of AIF1L Gene:

AIF1L

SOURCE GeneReport for Unigene cluster for AIF1L Gene:

Hs.4944

Evidence on tissue expression from TISSUES for AIF1L Gene

  • Nervous system(5)
  • Kidney(4.6)
  • Spleen(2.9)
genes like me logo Genes that share expression patterns with AIF1L: view

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for AIF1L Gene

Orthologs for AIF1L Gene

This gene was present in the common ancestor of chordates.

Orthologs for AIF1L Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AIF1L 34 33
  • 98.48 (n)
OneToOne
dog
(Canis familiaris)
Mammalia AIF1L 34 33
  • 94.67 (n)
OneToOne
cow
(Bos Taurus)
Mammalia AIF1L 34 33
  • 92.22 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Aif1l 16 34 33
  • 92 (n)
oppossum
(Monodelphis domestica)
Mammalia AIF1L 34
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aif1l 33
  • 91.33 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia AIF1L 34
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves AIF1L 34
  • 78 (a)
OneToOne
C9ORF58 33
  • 74.07 (n)
lizard
(Anolis carolinensis)
Reptilia AIF1L 34
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aif1l 33
  • 67.14 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.10091 33
zebrafish
(Danio rerio)
Actinopterygii aif1l 34 33
  • 73 (n)
OneToOne
sbcb10 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1794 33
Species where no ortholog for AIF1L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for AIF1L Gene

ENSEMBL:
Gene Tree for AIF1L (if available)
TreeFam:
Gene Tree for AIF1L (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AIF1L: view image

Paralogs for AIF1L Gene

Paralogs for AIF1L Gene

(5) SIMAP similar genes for AIF1L Gene using alignment to 6 proteins:

  • AIF1L_HUMAN
  • A6PVM9_HUMAN
  • F5GYC9_HUMAN
  • H7C605_HUMAN
  • Q5JUP1_HUMAN
  • Q5JUP3_HUMAN
genes like me logo Genes that share paralogs with AIF1L: view

Variants for AIF1L Gene

Sequence variations from dbSNP and Humsavar for AIF1L Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1000017386 -- 131,111,933(+) G/A intron_variant
rs1000039366 -- 131,108,372(+) G/C intron_variant
rs1000050163 -- 131,111,663(+) G/A/T coding_sequence_variant, missense_variant, non_coding_transcript_variant, stop_gained
rs1000126309 -- 131,103,131(+) G/A intron_variant
rs1000228085 -- 131,100,706(+) C/T genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for AIF1L Gene

Variant ID Type Subtype PubMed ID
esv2759717 CNV loss 17122850
esv3621866 CNV gain 21293372
nsv831737 CNV loss 17160897
nsv831738 CNV loss 17160897

Variation tolerance for AIF1L Gene

Residual Variation Intolerance Score: 67.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.45; 64.11% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AIF1L Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
AIF1L

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AIF1L Gene

Disorders for AIF1L Gene

Additional Disease Information for AIF1L

No disorders were found for AIF1L Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for AIF1L Gene

Publications for AIF1L Gene

  1. Structural and functional characterization of human Iba proteins. (PMID: 18699778) Schulze JO … Büssow K (The FEBS journal 2008) 3 4 22 58
  2. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S … Poustka A (Genome research 2001) 2 3 4 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4 58
  5. 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 58

Products for AIF1L Gene

Sources for AIF1L Gene

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