AIF1 allograft inflammatory factor 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: AIF1provided by HGNC
Official Full Name: allograft inflammatory factor 1provided by HGNC
Primary source: HGNC:HGNC:352
See related: Ensembl:ENSG00000204472 MIM:601833; AllianceGenome:HGNC:352
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: IBA1; IRT1; AIF-1; IRT-1
Summary: This gene encodes a protein that binds actin and calcium. This gene is induced by cytokines and interferon and may promote macrophage activation and growth of vascular smooth muscle cells and T-lymphocytes. Polymorphisms in this gene may be associated with systemic sclerosis. Alternative splicing results in multiple transcript variants, but the full-length and coding nature of some of these variants is not certain. [provided by RefSeq, Jan 2016]
Expression: Broad expression in spleen (RPKM 100.3), appendix (RPKM 74.7) and 17 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6p21.33

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (31615234..31617015)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (31468284..31470065)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (31583011..31584792)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Proteome-wide Mendelian randomization highlights AIF1 and HLA-DQA2 as targets for primary sclerosing cholangitis.
Title: Proteome-wide Mendelian randomization highlights AIF1 and HLA-DQA2 as targets for primary sclerosing cholangitis.
Identification of allograft inflammatory factor-1 suppressing the progression and indicating good prognosis of osteosarcoma.
Title: Identification of allograft inflammatory factor-1 suppressing the progression and indicating good prognosis of osteosarcoma.
Allograft inflammatory factor 1 is a potential diagnostic, immunological, and prognostic biomarker in pan-cancer.
Title: Allograft inflammatory factor 1 is a potential diagnostic, immunological, and prognostic biomarker in pan-cancer.
Increased adipose catecholamine levels and protection from obesity with loss of Allograft Inflammatory Factor-1.
Title: Increased adipose catecholamine levels and protection from obesity with loss of Allograft Inflammatory Factor-1.
AIF-1, a potential biomarker of aggressive tumor behavior in patients with non-small cell lung cancer.
Title: AIF-1, a potential biomarker of aggressive tumor behavior in patients with non-small cell lung cancer.
The Effect of Allograft Inflammatory Factor-1 on Inflammation, Oxidative Stress, and Autophagy via miR-34a/ATG4B Pathway in Diabetic Kidney Disease.
Title: The Effect of Allograft Inflammatory Factor-1 on Inflammation, Oxidative Stress, and Autophagy via miR-34a/ATG4B Pathway in Diabetic Kidney Disease.
Serum Iba-1, GLUT5, and TSPO in Patients With Diabetic Retinopathy: New Biomarkers for Early Retinal Neurovascular Alterations? A Pilot Study.
Title: Serum Iba-1, GLUT5, and TSPO in Patients With Diabetic Retinopathy: New Biomarkers for Early Retinal Neurovascular Alterations? A Pilot Study.
The Novel Tumor Microenvironment-Related Prognostic Gene AIF1 May Influence Immune Infiltrates and is Correlated with TIGIT in Esophageal Cancer.
Title: The Novel Tumor Microenvironment-Related Prognostic Gene AIF1 May Influence Immune Infiltrates and is Correlated with TIGIT in Esophageal Cancer.
Brain CHID1 Expression Correlates with NRGN and CALB1 in Healthy Subjects and AD Patients.
Title: Brain CHID1 Expression Correlates with NRGN and CALB1 in Healthy Subjects and AD Patients.
The Crosstalk between Calcium Ions and Aldosterone Contributes to Inflammation, Apoptosis, and Calcification of VSMC via the AIF-1/NF-kappaB Pathway in Uremia.
Title: The Crosstalk between Calcium Ions and Aldosterone Contributes to Inflammation, Apoptosis, and Calcification of VSMC via the AIF-1/NF-κB Pathway in Uremia.

Submit: New GeneRIF Correction See all GeneRIFs (60)

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

EBI GWAS Catalog

Description
A genome-wide association study on a southern European population identifies a new Crohn's disease susceptibility locus at RBX1-EP300. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies three susceptibility loci for laryngeal squamous cell carcinoma in the Chinese population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of candidate loci at 6p21 and 21q22 in a genome-wide association study of cardiac manifestations of neonatal lupus. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 and the viral protein Tat modulate the expression of allograft inflammatory factor 1 (AIF1) in immature dendritic cells and monocyte-derived macrophages	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-132025 (e-PCR)
- UniSTS:170607

D6S1864 (e-PCR)
- UniSTS:28592

AIF1_V70 (e-PCR)
- UniSTS:276983

AIF1_696.2 (e-PCR)
- UniSTS:276983

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 calcium ion binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables molecular_function	ND No biological Data available more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Rac protein signal transduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in actin crosslink formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in actin filament bundle assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in actin filament bundle assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in actin filament polymerization	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to oxidative stress	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to type II interferon	IEP Inferred from Expression Pattern more info	PubMed
involved_in cellular response to type II interferon	ISS Inferred from Sequence or Structural Similarity more info
involved_in inflammatory response	ISS Inferred from Sequence or Structural Similarity more info
involved_in inflammatory response	NAS Non-traceable Author Statement more info	PubMed
involved_in microglial cell activation	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of smooth muscle cell chemotaxis	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of smooth muscle cell proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in parallel actin filament bundle assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in phagocytosis, engulfment	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of G1/S transition of mitotic cell cycle	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of T cell migration	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of T cell proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell migration	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of chemokine production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of chemotaxis	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of fibroblast growth factor production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of interleukin-6 production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of monocyte chemotaxis	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of mononuclear cell migration	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of smooth muscle cell chemotaxis	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of smooth muscle cell proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of gene expression	HDA more info	PubMed
involved_in ruffle assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in ruffle assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in ruffle assembly	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
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 actin filament	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in glial cell projection	IEA Inferred from Electronic Annotation more info
located_in lamellipodium	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in phagocytic cup	ISS Inferred from Sequence or Structural Similarity more info
located_in ruffle	ISS Inferred from Sequence or Structural Similarity more info
colocalizes_with ruffle membrane	IBA Inferred from Biological aspect of Ancestor more info
colocalizes_with ruffle membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: allograft inflammatory factor 1

Names: interferon gamma responsive transcript; ionized calcium-binding adapter molecule 1; protein G1

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_001318970.2 → NP_001305899.1 allograft inflammatory factor 1 isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (4) uses an alternate splice site in the 5' region and initiates translation at a downstream start codon compared to variant 3. The encoded isoform (1) has a shorter N-terminus than isoform 3. Variants 1 and 4 encode the same isoform (1).

Source sequence(s)

AV716806, AV735626, JQ782415

Consensus CDS

CCDS34398.1

UniProtKB/TrEMBL

I3WTX1

Conserved Domains (1) summary

PTZ00183
Location:3 → 72

PTZ00183; centrin; Provisional
NM_001623.5 → NP_001614.3 allograft inflammatory factor 1 isoform 3

See identical proteins and their annotated locations for NP_001614.3

Status: REVIEWED

Description

Transcript Variant: This variant (3) encodes the longest isoform (3).

Source sequence(s)

AV716806, AV735626, JQ782414

Consensus CDS

CCDS4706.1

UniProtKB/Swiss-Prot

A8K406, O43904, P55008, Q9UIV4, Q9UKS9

UniProtKB/TrEMBL

Q4V347, Q5STX8

Related

ENSP00000365227.3, ENST00000376059.8

Conserved Domains (1) summary

PTZ00184
Location:46 → 113

PTZ00184; calmodulin; Provisional
NM_032955.3 → NP_116573.1 allograft inflammatory factor 1 isoform 1

See identical proteins and their annotated locations for NP_116573.1

Status: REVIEWED

Description

Transcript Variant: This variant (1, also known as G1) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon compared to variant 3. The encoded isoform (1) has a shorter N-terminus than isoform 3. Variants 1 and 4 encode the same isoform (1).

Source sequence(s)

AL662801, CD249922

Consensus CDS

CCDS34398.1

UniProtKB/TrEMBL

I3WTX1

Related

ENSP00000365217.4, ENST00000376049.4

Conserved Domains (1) summary

PTZ00183
Location:3 → 72

PTZ00183; centrin; Provisional

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_000006.12 Reference GRCh38.p14 Primary Assembly

Range

31615234..31617015

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005248870.5 → XP_005248927.1 allograft inflammatory factor 1 isoform X1

See identical proteins and their annotated locations for XP_005248927.1

Reference GRCh38.p14 ALT_REF_LOCI_2

Genomic

NT_113891.3 Reference GRCh38.p14 ALT_REF_LOCI_2

Range

3092523..3094304

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054329747.1 → XP_054185722.1 allograft inflammatory factor 1 isoform X1

Reference GRCh38.p14 ALT_REF_LOCI_3

Genomic

NT_167245.2 Reference GRCh38.p14 ALT_REF_LOCI_3

Range

2863001..2864782

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054330239.1 → XP_054186214.1 allograft inflammatory factor 1 isoform X1

Reference GRCh38.p14 ALT_REF_LOCI_5

Genomic

NT_167247.2 Reference GRCh38.p14 ALT_REF_LOCI_5

Range

2957120..2958901

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054330782.1 → XP_054186757.1 allograft inflammatory factor 1 isoform X1

Reference GRCh38.p14 ALT_REF_LOCI_6

Genomic

NT_167248.2 Reference GRCh38.p14 ALT_REF_LOCI_6

Range

2871056..2872837

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054331018.1 → XP_054186993.1 allograft inflammatory factor 1 isoform X1

Reference GRCh38.p14 ALT_REF_LOCI_7

Genomic

NT_167249.2 Reference GRCh38.p14 ALT_REF_LOCI_7

Range

2914520..2916301

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054331284.1 → XP_054187259.1 allograft inflammatory factor 1 isoform X1

Alternate T2T-CHM13v2.0

Genomic

NC_060930.1 Alternate T2T-CHM13v2.0

Range

31468284..31470065

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054354428.1 → XP_054210403.1 allograft inflammatory factor 1 isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_004847.3: Suppressed sequence

Description

NM_004847.3: This RefSeq was removed because currently there is not sufficient data to support this transcript or this protein. This transcript retains introns relative to other transcripts so may be incompletely processed.