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    AIF1L allograft inflammatory factor 1 like [ Homo sapiens (human) ]

    Gene ID: 83543, updated on 2-Nov-2024

    Summary

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    Official Symbol
    AIF1Lprovided by HGNC
    Official Full Name
    allograft inflammatory factor 1 likeprovided by HGNC
    Primary source
    HGNC:HGNC:28904
    See related
    Ensembl:ENSG00000126878 AllianceGenome:HGNC:28904
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    IBA2; C9orf58
    Summary
    Enables actin filament binding activity. Predicted to be involved in actin filament bundle assembly and ruffle assembly. Located in actin filament and focal adhesion. Biomarker of breast cancer. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in kidney (RPKM 130.1), spleen (RPKM 121.3) and 8 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See AIF1L in Genome Data Viewer
    Location:
    9q34.12-q34.13
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (131096531..131123144)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (143304798..143331382)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (133971918..133998531)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900284 Neighboring gene laminin subunit gamma 3 Neighboring gene LAMC3 intron enhancer-blocking element 9-5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:133925447-133925947 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr9:133927058-133928257 Neighboring gene LAMC3 intron enhancer-blocking element 9-2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:133933565-133934066 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:133944345-133944854 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:133954421-133954984 Neighboring gene uncharacterized LOC124902289 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:133967720-133968318 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:133968319-133968915 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:133969713-133970214 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:133972255-133972754 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:133976923-133977473 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:133977739-133978658 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:133983561-133984060 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:133985267-133985946 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29170 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:134007050-134007224 Neighboring gene RNA, U6 small nuclear 881, pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chr9:134019614-134020115 Neighboring gene nucleoporin 214 Neighboring gene Sharpr-MPRA regulatory region 7681 Neighboring gene enhancer-blocking element 9-3 overlapping NUP214 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:134079595-134080149 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:134102195-134103194 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:134103195-134104193 Neighboring gene VISTA enhancer hs1963 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:134128001-134128317 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:134129269-134129770 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29173 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29174 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29175 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:134144226-134144388 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29176 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29177 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29178 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29179 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29180 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:134150612-134151224 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20411 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29184 Neighboring gene family with sequence similarity 78 member A

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. AIF1L regulates actomyosin contractility and filopodial extensions in human podocytes. Yasuda-Yamahara M, et al. PLoS One, 2018. PMID 30001384, Free PMC Article
    2. Two novel fusion genes, AIF1L-ETV6 and ABL1-AIF1L, result together with ETV6-ABL1 from a single chromosomal rearrangement in acute lymphoblastic leukemia with prenatal origin. Lukes J Jr, et al. Genes Chromosomes Cancer, 2018 Sep. PMID 29726059
    3. Structural and functional characterization of human Iba proteins. Schulze JO, et al. FEBS J, 2008 Sep. PMID 18699778
    4. Plk4 Promotes Cancer Invasion and Metastasis through Arp2/3 Complex Regulation of the Actin Cytoskeleton. Kazazian K, et al. Cancer Res, 2017 Jan 15. PMID 27872092
    5. Luzp4 defines a new mRNA export pathway in cancer cells. Viphakone N, et al. Nucleic Acids Res, 2015 Feb 27. PMID 25662211, Free PMC Article

    See all (45) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. these findings indicate an involvement of AIF1L in the stabilization of podocyte morphology by titrating actomyosin contractility and membrane dynamics.
      Title: AIF1L regulates actomyosin contractility and filopodial extensions in human podocytes.
    2. We did not find the AIF1L-ETV6 and ABL1-AIF1L fusions in other ETV6-ABL1-positive ALL. Nevertheless, functional studies would be needed to establish the biological role of AIF1L-ETV6 and ABL1-AIF1L and to determine whether they contribute to leukemogenesis and/or to the final leukemia phenotype.
      Title: Two novel fusion genes, AIF1L-ETV6 and ABL1-AIF1L, result together with ETV6-ABL1 from a single chromosomal rearrangement in acute lymphoblastic leukemia with prenatal origin.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: New genetic associations detected in a host response study to hepatitis B vaccine.
    4. Structure of human Iba2 and its homodimerization properties, F-actin cross-linking activity, cellular localization and recruitment upon bacterial invasion in comparison with Iba1.
      Title: Structural and functional characterization of human Iba proteins.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ12783, MGC29466

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables actin filament binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables calcium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in actin filament bundle assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in ruffle assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		  
    colocalizes_with actin filament IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    colocalizes_with actin filament IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in focal adhesion IDA
    Inferred from Direct Assay
    more info
    		  
    colocalizes_with ruffle membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    allograft inflammatory factor 1-like
    Names
    ionized calcium binding adapter molecule 2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001185095.2 → NP_001172024.1  allograft inflammatory factor 1-like isoform 3

      See identical proteins and their annotated locations for NP_001172024.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) represents the longest transcript and it encodes the longest protein (isoform 3).
      Source sequence(s)
      AL157938, KF458943
      Consensus CDS
      CCDS55348.1
      UniProtKB/Swiss-Prot
      Q9BQI0
      Related
      ENSP00000361383.3, ENST00000372309.7
      Conserved Domains (1) summary
      cd00051
      Location:78 → 138
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

    2. NM_001185096.2 → NP_001172025.1  allograft inflammatory factor 1-like isoform 4

      See identical proteins and their annotated locations for NP_001172025.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an alternate coding region segment and uses a different splice site which changes the reading frame, compared to variant 3. The resulting protein (isoform 4) is shorter and has a distinct C-terminus when it is compared to isoform 3.
      Source sequence(s)
      AL157938, KF458943
      Consensus CDS
      CCDS55349.1
      UniProtKB/TrEMBL
      Q5JUP3
      Related
      ENSP00000361374.1, ENST00000372300.5
      Conserved Domains (1) summary
      cl08302
      Location:52 → 95
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

    3. NM_031426.4 → NP_113614.1  allograft inflammatory factor 1-like isoform 1

      See identical proteins and their annotated locations for NP_113614.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) lacks an alternate coding region segment, compared to variant 3. The resulting protein (isoform 1) is shorter when it is compared to isoform 3.
      Source sequence(s)
      AL157938, KF458943
      Consensus CDS
      CCDS6939.1
      UniProtKB/Swiss-Prot
      B2RBC4, Q6ZR40, Q8NAX7, Q8WU47, Q9BQI0, Q9H9G0
      Related
      ENSP00000247291.3, ENST00000247291.8
      Conserved Domains (1) summary
      cl08302
      Location:52 → 112
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

    RNA

    1. NR_033701.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate coding segment and uses a different splice site in the 5' coding region which changes the reading frame, compared to variant 3. This variant is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 3, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL157938, KF458943
      Related
      ENST00000372314.3

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      131096531..131123144
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017015177.2 → XP_016870666.1  allograft inflammatory factor 1-like isoform X1

      UniProtKB/TrEMBL
      B7Z6K5
      Conserved Domains (1) summary
      cd00051
      Location:57 → 117
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      143304798..143331382
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054363924.1 → XP_054219899.1  allograft inflammatory factor 1-like isoform X1

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001002260.1: Suppressed sequence

      Description
      NM_001002260.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BQI0.1 GenPept UniProtKB/Swiss-Prot:Q9BQI0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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