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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. 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

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

Regulatory Elements for AIF1L Gene

Enhancers for AIF1L 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
GH09G131100 1.5 Ensembl ENCODE dbSUPER 37.5 +5.9 5938 4.3 HDGF FOXA2 PKNOX1 ARID4B DMAP1 ZNF48 YY1 ZNF121 SP5 NFYC AIF1L RNU6-881P NUP214 QRFP PIR35044
GH09G131094 1 ENCODE dbSUPER 35.2 -1.6 -1641 1.2 SOX5 TFAP4 KLF1 SAP130 TEAD1 MLX BHLHE40 MAX MNT TEAD3 AIF1L ENSG00000252582
GH09G131095 1.2 ENCODE dbSUPER 21.3 +1.3 1308 3.9 MLX SIN3A ARID4B ZNF48 YY1 ETS1 ZNF121 GLIS2 FOS ZNF263 AIF1L NUP214 RNU6-881P QRFP PIR35044
GH09G131092 0.8 ENCODE dbSUPER 21.5 -3.8 -3784 0.9 ZNF579 CTBP1 ZNF146 MNT GATAD2B DPF2 AIF1L ENSG00000252582
GH09G131124 1.4 ENCODE dbSUPER 11.8 +29.4 29360 2.4 HNRNPUL1 PKNOX1 FOXA2 ARID4B SIN3A DMAP1 YBX1 ZNF2 YY1 ZNF207 AIF1L ENSG00000246851 FAM78A RNU6-881P NUP214
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AIF1L on UCSC Golden Path with GeneCards custom track

Promoters for AIF1L Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000242290 224 1001 MLX SIN3A ARID4B ZNF48 GLIS2 FOS ZNF263 SP3 MXD4 KAT8

Genomic Location for AIF1L Gene

Chromosome:
9
Start:
131,096,476 bp from pter
End:
131,123,152 bp from pter
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

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.

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:

Animal Model Products

CRISPR Products

miRNA for AIF1L Gene

miRTarBase miRNAs that target AIF1L

Inhibitory RNA Products

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

Pathways & Interactions for AIF1L Gene

SuperPathways for AIF1L Gene

No Data Available

Interacting Proteins for AIF1L Gene

Selected Interacting proteins: Q9BQI0-AIF1L_HUMAN for AIF1L Gene via IID

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

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

Primer Products

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 35
  • 98.48 (n)
dog
(Canis familiaris)
Mammalia AIF1L 34 35
  • 94.67 (n)
cow
(Bos Taurus)
Mammalia AIF1L 34 35
  • 92.22 (n)
mouse
(Mus musculus)
Mammalia Aif1l 34 16 35
  • 92 (n)
oppossum
(Monodelphis domestica)
Mammalia AIF1L 35
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aif1l 34
  • 91.33 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia AIF1L 35
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves AIF1L 35
  • 78 (a)
OneToOne
C9ORF58 34
  • 74.07 (n)
lizard
(Anolis carolinensis)
Reptilia AIF1L 35
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aif1l 34
  • 67.14 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.10091 34
zebrafish
(Danio rerio)
Actinopterygii aif1l 34 35
  • 73 (n)
sbcb10 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1794 34
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)

Paralogs for AIF1L Gene

Paralogs for AIF1L Gene

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

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 Sequence Context AA Info Type
rs1000017386 -- 131,111,933(+) CCCAC(A/G)GGGCT intron-variant
rs1000039366 -- 131,108,372(+) TTTTT(C/G)GACTT intron-variant
rs1000050163 -- 131,111,663(+) TCAAA(G/T)GTAAG nc-transcript-variant, reference, stop-gained
rs1000126309 -- 131,103,131(+) CTGGA(A/G)GCTGG intron-variant
rs1000228085 -- 131,100,706(+) GGTGA(C/T)CCCAG 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)

Relevant External Links for AIF1L Gene

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

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

Disorders for AIF1L Gene

Relevant External Links for AIF1L

Human Genome Epidemiology (HuGE) Navigator
AIF1L
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 J.O. … Buessow K. (FEBS J. 2008) 3 4 22 64
  2. Towards 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 Res. 2001) 2 3 4 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray S.J. … Dunham I. (Nature 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for AIF1L Gene

  • Addgene plasmids for AIF1L

Sources for AIF1L Gene

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