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

Gene ID: 83543, updated on 3-Apr-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 cytoskeleton and focal adhesion. Colocalizes with actin filament. Biomarker of breast cancer. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in kidney (RPKM 130.1), spleen (RPKM 121.3) and 8 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (131096531..131123144)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (143304798..143331382)
105.20220307 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
  • 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 (44) 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
  
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_2023_10

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

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