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    ABCF1 ATP binding cassette subfamily F member 1 [ Homo sapiens (human) ]

    Gene ID: 23, updated on 27-Nov-2024

    Summary

    Official Symbol
    ABCF1provided by HGNC
    Official Full Name
    ATP binding cassette subfamily F member 1provided by HGNC
    Primary source
    HGNC:HGNC:70
    See related
    Ensembl:ENSG00000204574 MIM:603429; AllianceGenome:HGNC:70
    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
    ABC27; ABC50
    Summary
    The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the GCN20 subfamily. Unlike other members of the superfamily, this protein lacks the transmembrane domains which are characteristic of most ABC transporters. This protein may be regulated by tumor necrosis factor-alpha and play a role in enhancement of protein synthesis and the inflammation process. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in testis (RPKM 25.4), bone marrow (RPKM 18.2) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See ABCF1 in Genome Data Viewer
    Location:
    6p21.33
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (30571442..30591522)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (30435621..30455699)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (30539219..30559299)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene G protein nucleolar 1 (putative) Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:30523544-30524109 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:30524110-30524674 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:30524675-30525239 Neighboring gene proline rich 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:30538839-30539400 Neighboring gene microRNA 877 Neighboring gene protein phosphatase 1 regulatory subunit 10 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:30577096-30578295 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:30585278-30585846 Neighboring gene mitochondrial ribosomal protein S18B

    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 Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Identification of independent risk loci for Graves' disease within the MHC in the Japanese population.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Rev rev HIV-1 Rev interacting protein, ATP-binding cassette, sub-family F (ABCF1), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells. The interaction of Rev with ABCF1 is increased by RRE PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables ATP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables RNA binding HDA PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ribosome binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables translation activator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables translation factor activity, RNA binding TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in inflammatory response TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of translation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NOT involved_in ribosome biogenesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in translation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in translational initiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in membrane HDA PubMed 
    located_in nuclear envelope IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nuclear envelope IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    ATP-binding cassette sub-family F member 1
    Names
    ATP-binding cassette 50 (TNF-alpha stimulated)
    ATP-binding cassette, sub-family F (GCN20), member 1
    TNF-alpha-stimulated ABC protein
    TNFalpha-inducible ATP-binding protein

    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_047030.1 RefSeqGene

      Range
      5050..25130
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001025091.2NP_001020262.1  ATP-binding cassette sub-family F member 1 isoform a

      See identical proteins and their annotated locations for NP_001020262.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AF027302, BC034488, BI547952, BM556481, BU620927
      Consensus CDS
      CCDS34380.1
      UniProtKB/Swiss-Prot
      A2BF75, O14897, Q69YP6, Q8NE71
      UniProtKB/TrEMBL
      A0A1U9X609, Q5STZ8
      Related
      ENSP00000313603.8, ENST00000326195.13
      Conserved Domains (1) summary
      COG0488
      Location:302833
      Uup; ATPase components of ABC transporters with duplicated ATPase domains [General function prediction only]
    2. NM_001090.3NP_001081.1  ATP-binding cassette sub-family F member 1 isoform b

      See identical proteins and their annotated locations for NP_001081.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1. The resulting protein (isoform b) is shorter than isoform a.
      Source sequence(s)
      AF027302, BM556481, BU620927
      Consensus CDS
      CCDS34381.1
      UniProtKB/TrEMBL
      Q2L6I2, Q5STZ8
      Related
      ENSP00000365728.3, ENST00000376545.7
      Conserved Domains (3) summary
      cd03221
      Location:266487
      ABCF_EF-3; ATP-binding cassette domain of elongation factor 3, subfamily F
      COG0488
      Location:264795
      Uup; ATPase components of ABC transporters with duplicated ATPase domains [General function prediction only]
      cl21455
      Location:659736
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      30571442..30591522
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_113891.3 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      2051164..2071240
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_3

    Genomic

    1. NT_167245.2 Reference GRCh38.p14 ALT_REF_LOCI_3

      Range
      1827269..1847349
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_4

    Genomic

    1. NT_167246.2 Reference GRCh38.p14 ALT_REF_LOCI_4

      Range
      1881671..1901751
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_5

    Genomic

    1. NT_167247.2 Reference GRCh38.p14 ALT_REF_LOCI_5

      Range
      1915488..1935568
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_6

    Genomic

    1. NT_167248.2 Reference GRCh38.p14 ALT_REF_LOCI_6

      Range
      1826529..1846605
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_7

    Genomic

    1. NT_167249.2 Reference GRCh38.p14 ALT_REF_LOCI_7

      Range
      1872199..1892278
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      30435621..30455699
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)