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    A1CF APOBEC1 complementation factor [ Homo sapiens (human) ]

    Gene ID: 29974, updated on 4-Feb-2018
    Official Symbol
    A1CFprovided by HGNC
    Official Full Name
    APOBEC1 complementation factorprovided by HGNC
    Primary source
    HGNC:HGNC:24086
    See related
    Ensembl:ENSG00000148584 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]
    Expression
    Biased expression in liver (RPKM 31.2), small intestine (RPKM 8.6) and 4 other tissues See more
    Orthologs
    Location:
    10q11.23
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 10 NC_000010.11 (50799409..50885681, 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 protein geranylgeranyltransferase type I subunit beta pseudogene 1 Neighboring gene N-acylsphingosine amidohydrolase 2B Neighboring gene coiled-coil domain containing 58 pseudogene 2 Neighboring gene uncharacterized LOC102724719 Neighboring gene protein kinase, cGMP-dependent, type I

    • Project title: 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 Jun 15 11:32:44 2016

    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 
    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
     
    mRNA modification IEA
    Inferred from Electronic Annotation
    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/Swiss-Prot
      Q9NQ94
      UniProtKB/TrEMBL
      A0A024QZJ5
      Related
      ENSP00000282641.3, ENST00000282641.6
      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)
      TIGR01648
      Location:2586
      hnRNP-R-Q; heterogeneous nuclear ribonucleoprotein R, Q family
      pfam14709
      Location:439515
      DND1_DSRM; double strand RNA binding domain from DEAD END PROTEIN 1
    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/Swiss-Prot
      Q9NQ94
      UniProtKB/TrEMBL
      B4E1E3, F8W9F8
      Related
      ENSP00000378868.3, ENST00000395489.6
      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: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_001198820.1NP_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/Swiss-Prot
      Q9NQ94
      UniProtKB/TrEMBL
      A0A024QZI9, B4E1E3
      Related
      ENSP00000378873.2, ENST00000395495.5
      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_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/Swiss-Prot
      Q9NQ94
      UniProtKB/TrEMBL
      A0A024QZJ5
      Related
      ENSP00000363109.3, OTTHUMP00000019614, ENST00000373997.7, OTTHUMT00000048088
      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)
      TIGR01648
      Location:2586
      hnRNP-R-Q; heterogeneous nuclear ribonucleoprotein R, Q family
      pfam14709
      Location:439515
      DND1_DSRM; double strand RNA binding domain from DEAD END PROTEIN 1
    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/Swiss-Prot
      Q9NQ94
      UniProtKB/TrEMBL
      A0A024QZM7
      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)
      TIGR01648
      Location:2594
      hnRNP-R-Q; heterogeneous nuclear ribonucleoprotein R, Q family
      pfam14709
      Location:447523
      DND1_DSRM; double strand RNA binding domain from DEAD END PROTEIN 1
    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/Swiss-Prot
      Q9NQ94
      UniProtKB/TrEMBL
      A0A024QZI9
      Related
      ENSP00000363107.3, OTTHUMP00000019615, ENST00000373995.7, OTTHUMT00000048090
      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: Homo sapiens Annotation Release 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p7 Primary Assembly

      Range
      50799409..50885681 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017016160.1XP_016871649.1  APOBEC1 complementation factor isoform X3

      UniProtKB/Swiss-Prot
      Q9NQ94
      UniProtKB/TrEMBL
      A0A024QZJ5
      Related
      ENSP00000363113.1, OTTHUMP00000019611, ENST00000374001.6, 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)
      TIGR01648
      Location:2586
      hnRNP-R-Q; heterogeneous nuclear ribonucleoprotein R, Q family
      pfam14709
      Location:439515
      DND1_DSRM; double strand RNA binding domain from DEAD END PROTEIN 1
    2. XM_005269720.3XP_005269777.1  APOBEC1 complementation factor isoform X2

      See identical proteins and their annotated locations for XP_005269777.1

      UniProtKB/Swiss-Prot
      Q9NQ94
      UniProtKB/TrEMBL
      A0A024QZM7
      Related
      ENSP00000363105.1, OTTHUMP00000019612, ENST00000373993.5, OTTHUMT00000048086
      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)
      TIGR01648
      Location:2594
      hnRNP-R-Q; heterogeneous nuclear ribonucleoprotein R, Q family
      pfam14709
      Location:447523
      DND1_DSRM; double strand RNA binding domain from DEAD END PROTEIN 1
    3. XM_011539729.2XP_011538031.1  APOBEC1 complementation factor isoform X1

      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)
      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
    4. XM_005269718.2XP_005269775.1  APOBEC1 complementation factor isoform X2

      See identical proteins and their annotated locations for XP_005269775.1

      UniProtKB/Swiss-Prot
      Q9NQ94
      UniProtKB/TrEMBL
      A0A024QZM7
      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)
      TIGR01648
      Location:2594
      hnRNP-R-Q; heterogeneous nuclear ribonucleoprotein R, Q family
      pfam14709
      Location:447523
      DND1_DSRM; double strand RNA binding domain from DEAD END PROTEIN 1
    5. XM_011539730.2XP_011538032.1  APOBEC1 complementation factor isoform X4

      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)
      TIGR01648
      Location:29547
      hnRNP-R-Q; heterogeneous nuclear ribonucleoprotein R, Q family
      pfam14709
      Location:400476
      DND1_DSRM; double strand RNA binding domain from DEAD END PROTEIN 1
      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 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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