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A1CF APOBEC1 complementation factor [ Homo sapiens (human) ]

Gene ID: 29974, updated on 3-Jan-2019

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
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

Genomic context

See A1CF in Genome Data Viewer
Location:
10q11.23
Exon count:
15
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 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 1

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

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

Pathways from BioSystems

  • 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 ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC163391

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
NOT double-stranded RNA binding IDA
Inferred from Direct Assay
more info
PubMed 
mRNA binding IBA
Inferred from Biological aspect of Ancestor
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytidine to uridine editing TAS
Traceable Author Statement
more info
 
mRNA localization resulting in posttranscriptional regulation of gene expression IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mRNA modification IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
nucleus IBA
Inferred from Biological aspect of Ancestor
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)

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_014576.4NP_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 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, ENST00000373997.7
    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, 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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p12 Primary Assembly

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

mRNA and Protein(s)

  1. XM_024447966.1XP_024303734.1  APOBEC1 complementation factor isoform X5

    Conserved Domains (1) summary
    TIGR01648
    Location:1510
    hnRNP-R-Q; heterogeneous nuclear ribonucleoprotein R, Q family
  2. XM_011539729.3XP_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
  3. 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
  4. 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
  5. XM_017016160.2XP_016871649.1  APOBEC1 complementation factor isoform X3

    UniProtKB/Swiss-Prot
    Q9NQ94
    UniProtKB/TrEMBL
    A0A024QZJ5
    Related
    ENSP00000363113.1, ENST00000374001.6
    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
  6. XM_005269720.4XP_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, ENST00000373993.5
    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
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