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    ABCF3 ATP binding cassette subfamily F member 3 [ Homo sapiens (human) ]

    Gene ID: 55324, updated on 3-Nov-2024

    Summary

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    Official Symbol
    ABCF3provided by HGNC
    Official Full Name
    ATP binding cassette subfamily F member 3provided by HGNC
    Primary source
    HGNC:HGNC:72
    See related
    Ensembl:ENSG00000161204 MIM:618967; AllianceGenome:HGNC:72
    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
    EST201864
    Summary
    This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ATP-binding cassette proteins transport various molecules across extra- and intracellular membranes. The protein encoded by this gene displays antiviral effect against flaviviruses. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2017]
    Expression
    Ubiquitous expression in adrenal (RPKM 33.9), testis (RPKM 16.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ABCF3 in Genome Data Viewer
    Location:
    3q27.1
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (184186199..184194005)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (186995138..187002952)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (183903987..183911793)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14956 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:183873749-183874626 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:183874627-183875502 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:183878685-183879185 Neighboring gene dishevelled segment polarity protein 3 Neighboring gene Sharpr-MPRA regulatory region 1463 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20903 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14957 Neighboring gene Sharpr-MPRA regulatory region 464 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:183900972-183901486 Neighboring gene adaptor related protein complex 2 subunit mu 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:183902780-183903494 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20904 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:183908066-183909265 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14958 Neighboring gene von Willebrand factor A domain containing 5B2 Neighboring gene Sharpr-MPRA regulatory region 15257 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:183965331-183966074 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:183966075-183966818 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20905 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20906 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20907 Neighboring gene microRNA 1224 Neighboring gene ALG3 alpha-1,3- mannosyltransferase

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. hABCF3 positively regulates cell proliferation, at least partially through the interaction with a tumor protein D52 protein family member: TPD52L2.
      Title: hABCF3, a TPD52L2 interacting partner, enhances the proliferation of human liver cancer cell lines in vitro.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A mega-analysis of genome-wide association studies for major depressive disorder.
    EBI GWAS Catalog

    Variation

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    See Variation Viewer (GRCh37.p13)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ11198

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables cadherin binding HDA PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in defense response to virus IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane HDA PubMed 

    General protein information

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    Preferred Names
    ATP-binding cassette sub-family F member 3
    Names
    ATP-binding cassette, sub-family F (GCN20), member 3

    NCBI Reference Sequences (RefSeq)

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    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_054899.1 RefSeqGene

      Range
      5125..12931
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001351298.2 → NP_001338227.1  ATP-binding cassette sub-family F member 3 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AC131235
      Consensus CDS
      CCDS87173.1
      UniProtKB/TrEMBL
      B4DRU9
      Related
      ENSP00000292808.4, ENST00000292808.5
      Conserved Domains (1) summary
      cl26602
      Location:6 → 694
      SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]

    2. NM_001351299.2 → NP_001338228.1  ATP-binding cassette sub-family F member 3 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC131235
      Related
      ENST00000473311.5
      Conserved Domains (1) summary
      COG0488
      Location:42 → 459
      Uup; ATPase components of ABC transporters with duplicated ATPase domains [General function prediction only]

    3. NM_001351300.2 → NP_001338229.1  ATP-binding cassette sub-family F member 3 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC131235
      Conserved Domains (1) summary
      cl26602
      Location:9 → 479
      SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]

    4. NM_018358.3 → NP_060828.2  ATP-binding cassette sub-family F member 3 isoform 1

      See identical proteins and their annotated locations for NP_060828.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC131235
      Consensus CDS
      CCDS3254.1
      UniProtKB/Swiss-Prot
      A8K241, Q86UA2, Q8NAN1, Q96GS8, Q9H7A8, Q9NUQ8
      UniProtKB/TrEMBL
      A0A0S2Z5L1, B4DRU9
      Related
      ENSP00000411471.2, ENST00000429586.7
      Conserved Domains (1) summary
      cl26602
      Location:6 → 700
      SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      184186199..184194005
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047448515.1 → XP_047304471.1  ATP-binding cassette sub-family F member 3 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      186995138..187002952
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054347175.1 → XP_054203150.1  ATP-binding cassette sub-family F member 3 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NUQ8.2 GenPept UniProtKB/Swiss-Prot:Q9NUQ8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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