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A1CF APOBEC1 complementation factor [ Homo sapiens (human) ]

Gene ID: 29974, updated on 14-Nov-2024

Summary

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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

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See A1CF in Genome Data Viewer
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_000010.11Genomic Context describing neighboring genes Neighboring gene protein geranylgeranyltransferase type I subunit beta pseudogene 1 Neighboring gene MPRA-validated peak944 silencer Neighboring gene N-acylsphingosine amidohydrolase 2B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:52751723-52752223 Neighboring gene uncharacterized LOC102724719 Neighboring gene MIX23 pseudogene 2 Neighboring gene protein kinase cGMP-dependent 1

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
EBI GWAS Catalog

Variation

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See Variation Viewer (GRCh37.p13)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC163391

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

  1. NG_029916.1 RefSeqGene

    Range
    5049..91267
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. 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

  3. 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

  4. 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

  5. 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

  6. 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

  7. 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

  8. 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

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    50799409..50885627 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. XM_047425130.1 → XP_047281086.1  APOBEC1 complementation factor isoform X2

    UniProtKB/Swiss-Prot
    A1L4F2, A8K7G7, B7ZM14, Q5SZQ0, Q9NQ93, Q9NQ94, Q9NQX8, Q9NQX9, Q9NXC9, Q9NZD3

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

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

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

    UniProtKB/TrEMBL
    F8W9F8

  6. 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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    51648044..51734261 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054365675.1 → XP_054221650.1  APOBEC1 complementation factor isoform X1

    UniProtKB/TrEMBL
    F8W9F8

  2. XM_054365678.1 → XP_054221653.1  APOBEC1 complementation factor isoform X2

    UniProtKB/Swiss-Prot
    A1L4F2, A8K7G7, B7ZM14, Q5SZQ0, Q9NQ93, Q9NQ94, Q9NQX8, Q9NQX9, Q9NXC9, Q9NZD3

  3. XM_054365679.1 → XP_054221654.1  APOBEC1 complementation factor isoform X4

  4. XM_054365677.1 → XP_054221652.1  APOBEC1 complementation factor isoform X3

  5. XM_054365674.1 → XP_054221649.1  APOBEC1 complementation factor isoform X1

    UniProtKB/TrEMBL
    F8W9F8

  6. XM_054365676.1 → XP_054221651.1  APOBEC1 complementation factor isoform X2

    UniProtKB/Swiss-Prot
    A1L4F2, A8K7G7, B7ZM14, Q5SZQ0, Q9NQ93, Q9NQ94, Q9NQX8, Q9NQX9, Q9NXC9, Q9NZD3
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NQ94.1 GenPept UniProtKB/Swiss-Prot:Q9NQ94

Gene LinkOut

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