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    A1CF APOBEC1 complementation factor [ Homo sapiens (human) ]

    Gene ID: 29974, updated on 9-Aug-2015
    Official Symbol
    A1CFprovided by HGNC
    Official Full Name
    APOBEC1 complementation factorprovided by HGNC
    Primary source
    HGNC:HGNC:24086
    See related
    Ensembl:ENSG00000148584; HPRD:10627; Vega:OTTHUMG00000018240
    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]
    Orthologs
    See A1CF in Epigenomics, MapViewer
    Location:
    10q11.23
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 10 NC_000010.11 (50799409..50885675, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (52559169..52645435, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC729047 Neighboring gene protein geranylgeranyltransferase type I, beta subunit pseudogene 1 Neighboring gene N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2B Neighboring gene coiled-coil domain containing 58 pseudogene 2 Neighboring gene uncharacterized LOC102724719 Neighboring gene protein kinase, cGMP-dependent, type I

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Genetic analysis of the pathogenic molecular sub-phenotype interferon-alpha identifies multiple novel loci involved in systemic lupus erythematosus.
    NHGRI GWA Catalog
    Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
    NHGRI GWA Catalog
    • Formation of the Editosome, organism-specific biosystem (from REACTOME)
      Formation of the Editosome, organism-specific biosystemThe editosome for C to U editing in mammals consist of a member of cytidine deaminase family of enzymes, apoB mRNA editig catalytic polypeptide 1 (APOBEC-1) and a complementing specificity factor (AC...
    • Gene Expression, organism-specific biosystem (from REACTOME)
      Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
    • mRNA Editing, organism-specific biosystem (from REACTOME)
      mRNA Editing, organism-specific biosystemAfter transcription, some RNA molecules are altered to contain bases not encoded in the genome. Most often this involves the editing or modification of one base to another, but in some organisms can ...
    • mRNA Editing: C to U Conversion, organism-specific biosystem (from REACTOME)
      mRNA Editing: C to U Conversion, organism-specific biosystemThe best characterized case of C to U editing is in the intestinal apolipoprotein B transcript, where the editing event creates a premature translation stop codon and consequently leads to a shorter ...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC163391

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA binding TAS
    Traceable Author Statement
    more info
    PubMed 
    NOT double-stranded RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    single-stranded RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    cytidine to uridine editing TAS
    Traceable Author Statement
    more info
     
    gene expression TAS
    Traceable Author Statement
    more info
     
    mRNA modification TAS
    Traceable Author Statement
    more info
     
    mRNA processing IEA
    Inferred from Electronic Annotation
    more info
     
    protein stabilization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    apolipoprotein B mRNA editing enzyme complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    APOBEC1 complementation factor
    Names
    APOBEC-1 stimulating protein
    apo-B RNA editing protein
    apobec-1 complementation factor (ACF) (ASP)

    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
      5001..91267
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001198818.1NP_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 and 4 both encode the same isoform (1).
      Source sequence(s)
      AK000324, AK291982, AL589794
      Consensus CDS
      CCDS7241.1
      UniProtKB/TrEMBL
      A0A024QZJ5
      UniProtKB/Swiss-Prot
      Q9NQ94
      Related
      ENSP00000282641, ENST00000282641
      Conserved Domains (5) summary
      cd12486
      Location:55132
      RRM1_ACF; RNA recognition motif 1 found in vertebrate APOBEC-1 complementation factor (ACF)
      cd12490
      Location:134218
      RRM2_ACF; RNA recognition motif 2 in vertebrate APOBEC-1 complementation factor (ACF)
      cd12498
      Location:223305
      RRM3_ACF; RNA recognition motif 3 in vertebrate APOBEC-1 complementation factor (ACF)
      pfam14709
      Location:437515
      DND1_DSRM; double strand RNA binding domain from DEAD END PROTEIN 1
      TIGR01648
      Location:2586
      hnRNP-R-Q; heterogeneous nuclear ribonucleoprotein R, Q family
    2. NM_001198819.1NP_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)
      AK000324, AK291982, AK303801, AL512366, AL589794
      Consensus CDS
      CCDS73133.1
      UniProtKB/TrEMBL
      B4E1E3
      UniProtKB/TrEMBL
      F8W9F8
      UniProtKB/Swiss-Prot
      Q9NQ94
      Related
      ENSP00000378868, ENST00000395489
      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)
      pfam14709
      Location:453531
      DND1_DSRM; double strand RNA binding domain from DEAD END PROTEIN 1
      TIGR01648
      Location:29602
      hnRNP-R-Q; heterogeneous nuclear ribonucleoprotein R, Q family
    3. NM_001198820.1NP_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)
      AK000324, AK303801, AL589794, BC144196
      Consensus CDS
      CCDS7243.1
      UniProtKB/TrEMBL
      A0A024QZI9
      UniProtKB/TrEMBL
      B4E1E3
      UniProtKB/Swiss-Prot
      Q9NQ94
      Related
      ENSP00000378873, ENST00000395495
      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)
      pfam14709
      Location:445523
      DND1_DSRM; double strand RNA binding domain from DEAD END PROTEIN 1
      TIGR01648
      Location:29594
      hnRNP-R-Q; heterogeneous nuclear ribonucleoprotein R, Q family
    4. NM_014576.3NP_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 and 4 both encode the same isoform (1).
      Source sequence(s)
      AF209192, AK000324, AL512366, AL589794
      Consensus CDS
      CCDS7241.1
      UniProtKB/TrEMBL
      A0A024QZJ5
      UniProtKB/Swiss-Prot
      Q9NQ94
      Related
      ENSP00000363113, OTTHUMP00000019611, ENST00000374001, OTTHUMT00000048085
      Conserved Domains (5) summary
      cd12486
      Location:55132
      RRM1_ACF; RNA recognition motif 1 found in vertebrate APOBEC-1 complementation factor (ACF)
      cd12490
      Location:134218
      RRM2_ACF; RNA recognition motif 2 in vertebrate APOBEC-1 complementation factor (ACF)
      cd12498
      Location:223305
      RRM3_ACF; RNA recognition motif 3 in vertebrate APOBEC-1 complementation factor (ACF)
      pfam14709
      Location:437515
      DND1_DSRM; double strand RNA binding domain from DEAD END PROTEIN 1
      TIGR01648
      Location:2586
      hnRNP-R-Q; heterogeneous nuclear ribonucleoprotein R, Q family
    5. NM_138932.2NP_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.
      Source sequence(s)
      AK000324, AK291982, AL589794, BC130519
      Consensus CDS
      CCDS7242.1
      UniProtKB/TrEMBL
      A0A024QZM7
      UniProtKB/Swiss-Prot
      Q9NQ94
      Conserved Domains (5) summary
      cd12486
      Location:55132
      RRM1_ACF; RNA recognition motif 1 found in vertebrate APOBEC-1 complementation factor (ACF)
      cd12490
      Location:134218
      RRM2_ACF; RNA recognition motif 2 in vertebrate APOBEC-1 complementation factor (ACF)
      cd12498
      Location:223305
      RRM3_ACF; RNA recognition motif 3 in vertebrate APOBEC-1 complementation factor (ACF)
      pfam14709
      Location:445523
      DND1_DSRM; double strand RNA binding domain from DEAD END PROTEIN 1
      TIGR01648
      Location:2594
      hnRNP-R-Q; heterogeneous nuclear ribonucleoprotein R, Q family
    6. NM_138933.2NP_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
      A0A024QZI9
      UniProtKB/Swiss-Prot
      Q9NQ94
      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)
      pfam14709
      Location:445523
      DND1_DSRM; double strand RNA binding domain from DEAD END PROTEIN 1
      TIGR01648
      Location:29594
      hnRNP-R-Q; heterogeneous nuclear ribonucleoprotein R, Q family

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p2 Primary Assembly

      Range
      50799409..50885675
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005269720.2XP_005269777.1  

      See identical proteins and their annotated locations for XP_005269777.1

      UniProtKB/TrEMBL
      A0A024QZM7
      UniProtKB/Swiss-Prot
      Q9NQ94
      Conserved Domains (5) summary
      cd12486
      Location:55132
      RRM1_ACF; RNA recognition motif 1 found in vertebrate APOBEC-1 complementation factor (ACF)
      cd12490
      Location:134218
      RRM2_ACF; RNA recognition motif 2 in vertebrate APOBEC-1 complementation factor (ACF)
      cd12498
      Location:223305
      RRM3_ACF; RNA recognition motif 3 in vertebrate APOBEC-1 complementation factor (ACF)
      pfam14709
      Location:445523
      DND1_DSRM; double strand RNA binding domain from DEAD END PROTEIN 1
      TIGR01648
      Location:2594
      hnRNP-R-Q; heterogeneous nuclear ribonucleoprotein R, Q family
    2. XM_011539729.1XP_011538031.1  

      See identical proteins and their annotated locations for XP_011538031.1

      UniProtKB/TrEMBL
      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)
      pfam14709
      Location:453531
      DND1_DSRM; double strand RNA binding domain from DEAD END PROTEIN 1
      TIGR01648
      Location:29602
      hnRNP-R-Q; heterogeneous nuclear ribonucleoprotein R, Q family
    3. XM_005269718.1XP_005269775.1  

      See identical proteins and their annotated locations for XP_005269775.1

      UniProtKB/TrEMBL
      A0A024QZM7
      UniProtKB/Swiss-Prot
      Q9NQ94
      Conserved Domains (5) summary
      cd12486
      Location:55132
      RRM1_ACF; RNA recognition motif 1 found in vertebrate APOBEC-1 complementation factor (ACF)
      cd12490
      Location:134218
      RRM2_ACF; RNA recognition motif 2 in vertebrate APOBEC-1 complementation factor (ACF)
      cd12498
      Location:223305
      RRM3_ACF; RNA recognition motif 3 in vertebrate APOBEC-1 complementation factor (ACF)
      pfam14709
      Location:445523
      DND1_DSRM; double strand RNA binding domain from DEAD END PROTEIN 1
      TIGR01648
      Location:2594
      hnRNP-R-Q; heterogeneous nuclear ribonucleoprotein R, Q family
    4. XM_011539730.1XP_011538032.1  

      Conserved Domains (5) summary
      cd12486
      Location:63140
      RRM1_ACF; RNA recognition motif 1 found in vertebrate APOBEC-1 complementation factor (ACF)
      cd12492
      Location:142213
      RRM2_RBM46; RNA recognition motif 2 found in vertebrate RNA-binding protein 46 (RBM46)
      pfam14709
      Location:398476
      DND1_DSRM; double strand RNA binding domain from DEAD END PROTEIN 1
      TIGR01648
      Location:29547
      hnRNP-R-Q; heterogeneous nuclear ribonucleoprotein R, Q family
      cl17169
      Location:209258
      RRM_SF; RNA recognition motif (RRM) superfamily

    Alternate CHM1_1.1

    Genomic

    1. NC_018921.2 Alternate CHM1_1.1

      Range
      52841000..52927266
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)