U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    A1CF APOBEC1 complementation factor [ Homo sapiens (human) ]

    Gene ID: 29974, updated on 3-Nov-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    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

    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)

    NEW Try the new Transcript table

    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_001198818.2NP_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:2586
      hnRNP-R-Q; heterogeneous nuclear ribonucleoprotein R, Q family
    2. NM_001198819.2NP_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:63140
      RRM1_ACF; RNA recognition motif 1 found in vertebrate APOBEC-1 complementation factor (ACF)
      cd12490
      Location:142226
      RRM2_ACF; RNA recognition motif 2 in vertebrate APOBEC-1 complementation factor (ACF)
      cd12498
      Location:231313
      RRM3_ACF; RNA recognition motif 3 in vertebrate APOBEC-1 complementation factor (ACF)
      TIGR01648
      Location:29602
      hnRNP-R-Q; heterogeneous nuclear ribonucleoprotein R, Q family
      pfam14709
      Location:455531
      DND1_DSRM; double strand RNA binding domain from DEAD END PROTEIN 1
    3. NM_001198820.2NP_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:63140
      RRM1_ACF; RNA recognition motif 1 found in vertebrate APOBEC-1 complementation factor (ACF)
      cd12490
      Location:142226
      RRM2_ACF; RNA recognition motif 2 in vertebrate APOBEC-1 complementation factor (ACF)
      cd12498
      Location:231313
      RRM3_ACF; RNA recognition motif 3 in vertebrate APOBEC-1 complementation factor (ACF)
      TIGR01648
      Location:29594
      hnRNP-R-Q; heterogeneous nuclear ribonucleoprotein R, Q family
      pfam14709
      Location:447523
      DND1_DSRM; double strand RNA binding domain from DEAD END PROTEIN 1
    4. NM_001370130.1NP_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:2586
      hnRNP-R-Q; heterogeneous nuclear ribonucleoprotein R, Q family
    5. NM_001370131.1NP_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:2594
      hnRNP-R-Q; heterogeneous nuclear ribonucleoprotein R, Q family
    6. NM_014576.4NP_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:2586
      hnRNP-R-Q; heterogeneous nuclear ribonucleoprotein R, Q family
    7. NM_138932.3NP_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:2594
      hnRNP-R-Q; heterogeneous nuclear ribonucleoprotein R, Q family
    8. NM_138933.3NP_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:63140
      RRM1_ACF; RNA recognition motif 1 found in vertebrate APOBEC-1 complementation factor (ACF)
      cd12490
      Location:142226
      RRM2_ACF; RNA recognition motif 2 in vertebrate APOBEC-1 complementation factor (ACF)
      cd12498
      Location:231313
      RRM3_ACF; RNA recognition motif 3 in vertebrate APOBEC-1 complementation factor (ACF)
      TIGR01648
      Location:29594
      hnRNP-R-Q; heterogeneous nuclear ribonucleoprotein R, Q family
      pfam14709
      Location:447523
      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_011539729.4XP_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:63140
      RRM1_ACF; RNA recognition motif 1 found in vertebrate APOBEC-1 complementation factor (ACF)
      cd12490
      Location:142226
      RRM2_ACF; RNA recognition motif 2 in vertebrate APOBEC-1 complementation factor (ACF)
      cd12498
      Location:231313
      RRM3_ACF; RNA recognition motif 3 in vertebrate APOBEC-1 complementation factor (ACF)
      TIGR01648
      Location:29602
      hnRNP-R-Q; heterogeneous nuclear ribonucleoprotein R, Q family
      pfam14709
      Location:455531
      DND1_DSRM; double strand RNA binding domain from DEAD END PROTEIN 1
    2. XM_047425130.1XP_047281086.1  APOBEC1 complementation factor isoform X2

      UniProtKB/Swiss-Prot
      A1L4F2, A8K7G7, B7ZM14, Q5SZQ0, Q9NQ93, Q9NQ94, Q9NQX8, Q9NQX9, Q9NXC9, Q9NZD3
    3. XM_047425131.1XP_047281087.1  APOBEC1 complementation factor isoform X4

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

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

      UniProtKB/TrEMBL
      F8W9F8
    6. XM_005269718.3XP_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:2594
      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_054365675.1XP_054221650.1  APOBEC1 complementation factor isoform X1

      UniProtKB/TrEMBL
      F8W9F8
    2. XM_054365678.1XP_054221653.1  APOBEC1 complementation factor isoform X2

      UniProtKB/Swiss-Prot
      A1L4F2, A8K7G7, B7ZM14, Q5SZQ0, Q9NQ93, Q9NQ94, Q9NQX8, Q9NQX9, Q9NXC9, Q9NZD3
    3. XM_054365679.1XP_054221654.1  APOBEC1 complementation factor isoform X4

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

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

      UniProtKB/TrEMBL
      F8W9F8
    6. XM_054365676.1XP_054221651.1  APOBEC1 complementation factor isoform X2

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