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    A1CF APOBEC1 complementation factor [ Homo sapiens (human) ]

    Gene ID: 29974, updated on 2-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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    Related articles in PubMed

    1. Induction of cytidine to uridine editing on cytoplasmic apolipoprotein B mRNA by overexpressing APOBEC-1. Yang Y, et al. J Biol Chem, 2000 Jul 28. PMID 10833526
    2. High APOBEC1 Complementation Factor Expression Positively Modulates the Proliferation, Invasion, and Migration of Endometrial Cancer Cells Through Regulating P53/P21 Signaling Pathway. Liu Q, et al. Cancer Biother Radiopharm, 2022 Nov. PMID 32818382
    3. RNA editing: cytidine to uridine conversion in apolipoprotein B mRNA. Chester A, et al. Biochim Biophys Acta, 2000 Nov 15. PMID 11072063
    4. Isolation, characterization and developmental regulation of the human apobec-1 complementation factor (ACF) gene. Henderson JO, et al. Biochim Biophys Acta, 2001 Nov 11. PMID 11718896
    5. Mutagenesis of apobec-1 complementation factor reveals distinct domains that modulate RNA binding, protein-protein interaction with apobec-1, and complementation of C to U RNA-editing activity. Blanc V, et al. J Biol Chem, 2001 Dec 7. PMID 11571303

    See all (45) citations in PubMed

    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 variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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 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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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