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

Summary

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: mouse all
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Genomic context

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_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: New genetic associations detected in a host response study to hepatitis B vaccine.
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.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH18178 (e-PCR)
- UniSTS:15699

A007D17 (e-PCR)
- UniSTS:15999

IB671 (e-PCR)
- UniSTS:24015

A002O41 (e-PCR)
- UniSTS:5866

HSC2JF042 (e-PCR)
- UniSTS:80637

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 more info	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)

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 ...
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 ...
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

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

NC_000009.12 Reference GRCh38.p14 Primary Assembly

Range

131096531..131123144

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

NC_060933.1 Alternate T2T-CHM13v2.0

Range

143304798..143331382

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

NM_001002260.1: Suppressed sequence

Description

NM_001002260.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.