A1CF APOBEC1 complementation factor [Homo sapiens (human)] - Gene

Summary

Official Symbol: A1CFprovided by HGNC
Official Full Name: APOBEC1 complementation factorprovided by HGNC
Primary source: HGNC:HGNC:24086
See related: Ensembl:ENSG00000148584 MIM:618199; AllianceGenome:HGNC:24086
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: ACF; ASP; ACF64; ACF65; APOBEC1CF
Summary: Mammalian apolipoprotein B mRNA undergoes site-specific C to U deamination, which is mediated by a multi-component enzyme complex containing a minimal core composed of APOBEC-1 and a complementation factor encoded by this gene. The gene product has three non-identical RNA recognition motifs and belongs to the hnRNP R family of RNA-binding proteins. It has been proposed that this complementation factor functions as an RNA-binding subunit and docks APOBEC-1 to deaminate the upstream cytidine. Studies suggest that the protein may also be involved in other RNA editing or RNA processing events. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
Expression: Biased expression in liver (RPKM 31.2), small intestine (RPKM 8.6) and 4 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q11.23

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (50799409..50885627, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (51648044..51734261, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (52559169..52645387, complement)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A1CF Binding to the p65 Interaction Site on NKRF Decreased IFN-beta Expression and p65 Phosphorylation (Ser536) in Renal Carcinoma Cells.
Title: A1CF Binding to the p65 Interaction Site on NKRF Decreased IFN-β Expression and p65 Phosphorylation (Ser536) in Renal Carcinoma Cells.
High APOBEC1 Complementation Factor Expression Positively Modulates the Proliferation, Invasion, and Migration of Endometrial Cancer Cells Through Regulating P53/P21 Signaling Pathway.
Title: High APOBEC1 Complementation Factor Expression Positively Modulates the Proliferation, Invasion, and Migration of Endometrial Cancer Cells Through Regulating P53/P21 Signaling Pathway.
Both variants of A1CF and BAZ1B genes are associated with gout susceptibility: a replication study and meta-analysis in a Japanese population.
Title: Both variants of A1CF and BAZ1B genes are associated with gout susceptibility: a replication study and meta-analysis in a Japanese population.
this study revealed that A1CF can upregulate the expression of FAM224A via strengthening its stability, which in turn, influenced the negative modulation of miR-590-3p on transcription factor ZNF143.
Title: Inhibition of the aberrant A1CF-FAM224A-miR-590-3p-ZNF143 positive feedback loop attenuated malignant biological behaviors of glioma cells.
A1CF-Axin2 signal axis regulates Wilms tumor-derived cells' apoptosis and migration through Axin2.
Title: A1CF-Axin2 signal axis regulates apoptosis and migration in Wilms tumor-derived cells through Wnt/β-catenin pathway.
Interaction of any alcohol exposure with GCKR (rs780094) and A1CF (rs10821905) influenced the risk of gout in Europeans
Title: Interaction of the GCKR and A1CF loci with alcohol consumption to influence the risk of gout.
Study reported that the deleted 8aa, EIYMNVPV, was just localized in the internal region of A1CF nuclear translocation signal. Also, A1CF (-8aa), but not its full-length counterpart, can promote proliferation of MDA-MB-231 cells accompanied with increased level of IL-6 mRNA.
Title: EIYMNVPV Motif is Essential for A1CF Nucleus Localization and A1CF (-8aa) Promotes Proliferation of MDA-MB-231 Cells via Up-Regulation of IL-6.
hnRNP K and hnRNP L may serve as A1CF-like cofactors in AID-mediated class switch recombination and somatic hypermutation
Title: Identification of DNA cleavage- and recombination-specific hnRNP cofactors for activation-induced cytidine deaminase.
The data presented in this report suggested that similar regulatory mechanisms controlling the functional interaction of APOBEC-1 with ACF might be operational during enterocyte differentiation.
Title: The expression of apoB mRNA editing factors is not the sole determinant for the induction of editing in differentiating Caco-2 cells.
results suggested both AID and APOBEC-1 are equally likely to bind single-stranded DNA or RNA, which has implications for the identification of natural AID targets
Title: The structure of a yeast RNA-editing deaminase provides insight into the fold and function of activation-induced deaminase and APOBEC-1.

Submit: New GeneRIF Correction See all GeneRIFs (11)

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
Genetic analysis of the pathogenic molecular sub-phenotype interferon-alpha identifies multiple novel loci involved in systemic lupus erythematosus. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

ACF_9619 (e-PCR)
- UniSTS:468270

G20794 (e-PCR)
- UniSTS:56371

A006G44 (e-PCR)
- UniSTS:56372

RH103539 (e-PCR)
- UniSTS:97864

D10S1464 (e-PCR)
- UniSTS:29559

G54572 (e-PCR)
- UniSTS:117710

RH70135 (e-PCR)
- UniSTS:478

RH46928 (e-PCR)
- UniSTS:24547

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	TAS Traceable Author Statement more info	PubMed
NOT enables double-stranded RNA binding	IDA Inferred from Direct Assay more info	PubMed
enables enzyme-substrate adaptor activity	IDA Inferred from Direct Assay more info	PubMed
enables mRNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables single-stranded RNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in chromosomal 5-methylcytosine DNA demethylation pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in cytidine to uridine editing	IDA Inferred from Direct Assay more info	PubMed
involved_in embryo implantation	IEA Inferred from Electronic Annotation more info
involved_in mRNA localization resulting in post-transcriptional regulation of gene expression	IEA Inferred from Electronic Annotation more info
involved_in mRNA modification	IDA Inferred from Direct Assay more info	PubMed
involved_in mRNA processing	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IDA Inferred from Direct Assay more info	PubMed
involved_in protein stabilization	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of apolipoprotein B mRNA editing enzyme complex	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
part_of mRNA editing complex	NAS Non-traceable Author Statement more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
is_active_in nucleus	IC Inferred by Curator more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: APOBEC1 complementation factor

Names: APOBEC-1 stimulating protein; apo-B RNA editing protein; apobec-1 complementation factor (ACF) (ASP)

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.

Genomic

NG_029916.1 RefSeqGene

Range

5049..91267

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001198818.2 → NP_001185747.1 APOBEC1 complementation factor isoform 1

See identical proteins and their annotated locations for NP_001185747.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence and lacks an alternate in-frame segment compared to variant 5. The resulting isoform (1) has a shorter and distinct N-terminus and lacks a short internal segment compared to isoform 4. Variants 1, 4, and 7 encode the same isoform (1).

Source sequence(s)

AK000324, AK291982, AL589794

Consensus CDS

CCDS7241.1

UniProtKB/TrEMBL

B4E1E3

Related

ENSP00000397953.2, ENST00000414883.2

Conserved Domains (1) summary

TIGR01648
Location:2 → 586

hnRNP-R-Q; heterogeneous nuclear ribonucleoprotein R, Q family
NM_001198819.2 → NP_001185748.1 APOBEC1 complementation factor isoform 4

See identical proteins and their annotated locations for NP_001185748.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) represents the longest transcript and encodes the longest isoform (4).

Source sequence(s)

AK291982, AK303801, AL512366, AL589794

Consensus CDS

CCDS73133.1

UniProtKB/TrEMBL

B4E1E3, F8W9F8

Related

ENSP00000378868.3, ENST00000395489.7

Conserved Domains (5) summary

cd12486
Location:63 → 140

RRM1_ACF; RNA recognition motif 1 found in vertebrate APOBEC-1 complementation factor (ACF)

cd12490
Location:142 → 226

RRM2_ACF; RNA recognition motif 2 in vertebrate APOBEC-1 complementation factor (ACF)

cd12498
Location:231 → 313

RRM3_ACF; RNA recognition motif 3 in vertebrate APOBEC-1 complementation factor (ACF)

TIGR01648
Location:29 → 602

hnRNP-R-Q; heterogeneous nuclear ribonucleoprotein R, Q family

pfam14709
Location:455 → 531

DND1_DSRM; double strand RNA binding domain from DEAD END PROTEIN 1
NM_001198820.2 → NP_001185749.1 APOBEC1 complementation factor isoform 3

See identical proteins and their annotated locations for NP_001185749.1

Status: REVIEWED

Description

Transcript Variant: This variant (6) differs in the 5' UTR and lacks an alternate in-frame segment compared to variant 5. The resulting isoform (3) lacks a short internal segment compared to isoform 4. Variants 3 and 6 both encode the same isoform (3).

Source sequence(s)

AK303801, AL589794, BC144196

Consensus CDS

CCDS7243.1

UniProtKB/TrEMBL

B4E1E3

Related

ENSP00000378873.2, ENST00000395495.6

Conserved Domains (5) summary

cd12486
Location:63 → 140

RRM1_ACF; RNA recognition motif 1 found in vertebrate APOBEC-1 complementation factor (ACF)

cd12490
Location:142 → 226

RRM2_ACF; RNA recognition motif 2 in vertebrate APOBEC-1 complementation factor (ACF)

cd12498
Location:231 → 313

RRM3_ACF; RNA recognition motif 3 in vertebrate APOBEC-1 complementation factor (ACF)

TIGR01648
Location:29 → 594

hnRNP-R-Q; heterogeneous nuclear ribonucleoprotein R, Q family

pfam14709
Location:447 → 523

DND1_DSRM; double strand RNA binding domain from DEAD END PROTEIN 1
NM_001370130.1 → NP_001357059.1 APOBEC1 complementation factor isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (7) differs in the 5' UTR and coding sequence compared to variant 5. The resulting isoform (1) has a shorter and distinct N-terminus and lacks a short internal segment compared to isoform 4. Variants 1, 4, and 7 encode the same isoform (1).

Source sequence(s)

AL512366, AL589794

Consensus CDS

CCDS7241.1

UniProtKB/TrEMBL

B4E1E3

Related

ENSP00000363113.1, ENST00000374001.6

Conserved Domains (1) summary

TIGR01648
Location:2 → 586

hnRNP-R-Q; heterogeneous nuclear ribonucleoprotein R, Q family
NM_001370131.1 → NP_001357060.1 APOBEC1 complementation factor isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (8) differs in the 5' UTR and coding sequence compared to variant 5. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 4. Variants 2 and 8 encode the same isoform (2).

Source sequence(s)

AL512366, AL589794

Consensus CDS

CCDS7242.1

UniProtKB/Swiss-Prot

A1L4F2, A8K7G7, B7ZM14, Q5SZQ0, Q9NQ93, Q9NQ94, Q9NQX8, Q9NQX9, Q9NXC9, Q9NZD3

UniProtKB/TrEMBL

B4E1E3

Related

ENSP00000363105.1, ENST00000373993.6

Conserved Domains (1) summary

TIGR01648
Location:2 → 594

hnRNP-R-Q; heterogeneous nuclear ribonucleoprotein R, Q family
NM_014576.4 → NP_055391.2 APOBEC1 complementation factor isoform 1

See identical proteins and their annotated locations for NP_055391.2

Status: REVIEWED

Description

Transcript Variant: This dominant variant (1), also referred to as the wild type, differs in the 5' UTR and coding sequence and lacks an alternate in-frame segment compared to variant 5. The resulting isoform (1) has a shorter and distinct N-terminus and lacks a short internal segment compared to isoform 4. Variants 1, 4, and 7 encode the same isoform (1).

Source sequence(s)

AF209192, AK000324, AL512366, AL589794

Consensus CDS

CCDS7241.1

UniProtKB/TrEMBL

B4E1E3

Related

ENSP00000363109.3, ENST00000373997.8

Conserved Domains (1) summary

TIGR01648
Location:2 → 586

hnRNP-R-Q; heterogeneous nuclear ribonucleoprotein R, Q family
NM_138932.3 → NP_620310.1 APOBEC1 complementation factor isoform 2

See identical proteins and their annotated locations for NP_620310.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 5. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 4. Variants 2 and 8 encode the same isoform (2).

Source sequence(s)

AK291982, AL589794, BC130519

Consensus CDS

CCDS7242.1

UniProtKB/Swiss-Prot

A1L4F2, A8K7G7, B7ZM14, Q5SZQ0, Q9NQ93, Q9NQ94, Q9NQX8, Q9NQX9, Q9NXC9, Q9NZD3

UniProtKB/TrEMBL

B4E1E3

Conserved Domains (1) summary

TIGR01648
Location:2 → 594

hnRNP-R-Q; heterogeneous nuclear ribonucleoprotein R, Q family
NM_138933.3 → NP_620311.1 APOBEC1 complementation factor isoform 3

See identical proteins and their annotated locations for NP_620311.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and lacks an alternate in-frame segment compared to variant 5. The resulting isoform (3) lacks a short internal segment compared to isoform 4. Variants 3 and 6 both encode the same isoform (3).

Source sequence(s)

AK000324, AL589794, BC144196

Consensus CDS

CCDS7243.1

UniProtKB/TrEMBL

B4E1E3

Related

ENSP00000363107.3, ENST00000373995.7

Conserved Domains (5) summary

cd12486
Location:63 → 140

RRM1_ACF; RNA recognition motif 1 found in vertebrate APOBEC-1 complementation factor (ACF)

cd12490
Location:142 → 226

RRM2_ACF; RNA recognition motif 2 in vertebrate APOBEC-1 complementation factor (ACF)

cd12498
Location:231 → 313

RRM3_ACF; RNA recognition motif 3 in vertebrate APOBEC-1 complementation factor (ACF)

TIGR01648
Location:29 → 594

hnRNP-R-Q; heterogeneous nuclear ribonucleoprotein R, Q family

pfam14709
Location:447 → 523

DND1_DSRM; double strand RNA binding domain from DEAD END PROTEIN 1

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

NC_000010.11 Reference GRCh38.p14 Primary Assembly

Range

50799409..50885627 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011539729.4 → XP_011538031.1 APOBEC1 complementation factor isoform X1

See identical proteins and their annotated locations for XP_011538031.1

UniProtKB/TrEMBL

B4E1E3, F8W9F8

Conserved Domains (5) summary

cd12486
Location:63 → 140

RRM1_ACF; RNA recognition motif 1 found in vertebrate APOBEC-1 complementation factor (ACF)

cd12490
Location:142 → 226

RRM2_ACF; RNA recognition motif 2 in vertebrate APOBEC-1 complementation factor (ACF)

cd12498
Location:231 → 313

RRM3_ACF; RNA recognition motif 3 in vertebrate APOBEC-1 complementation factor (ACF)

TIGR01648
Location:29 → 602

hnRNP-R-Q; heterogeneous nuclear ribonucleoprotein R, Q family

pfam14709
Location:455 → 531

DND1_DSRM; double strand RNA binding domain from DEAD END PROTEIN 1
XM_047425130.1 → XP_047281086.1 APOBEC1 complementation factor isoform X2

UniProtKB/Swiss-Prot

A1L4F2, A8K7G7, B7ZM14, Q5SZQ0, Q9NQ93, Q9NQ94, Q9NQX8, Q9NQX9, Q9NXC9, Q9NZD3

UniProtKB/TrEMBL

B4E1E3
XM_047425131.1 → XP_047281087.1 APOBEC1 complementation factor isoform X4

UniProtKB/TrEMBL

B4E1E3
XM_047425129.1 → XP_047281085.1 APOBEC1 complementation factor isoform X3

UniProtKB/TrEMBL

B4E1E3
XM_047425127.1 → XP_047281083.1 APOBEC1 complementation factor isoform X1

UniProtKB/TrEMBL

B4E1E3, F8W9F8
XM_005269718.3 → XP_005269775.1 APOBEC1 complementation factor isoform X2

See identical proteins and their annotated locations for XP_005269775.1

UniProtKB/Swiss-Prot

A1L4F2, A8K7G7, B7ZM14, Q5SZQ0, Q9NQ93, Q9NQ94, Q9NQX8, Q9NQX9, Q9NXC9, Q9NZD3

UniProtKB/TrEMBL

B4E1E3

Conserved Domains (1) summary

TIGR01648
Location:2 → 594

hnRNP-R-Q; heterogeneous nuclear ribonucleoprotein R, Q family