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

Gene ID: 55324, updated on 5-Mar-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
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Genomic context

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Location:
3q27.1
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (184186199..184194005)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (186995138..187002952)
105.20220307 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
  • 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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Related articles in PubMed

  1. hABCF3, a TPD52L2 interacting partner, enhances the proliferation of human liver cancer cell lines in vitro. Zhou J, et al. Mol Biol Rep, 2013 Oct. PMID 24052230
  2. A mega-analysis of genome-wide association studies for major depressive disorder. Major Depressive Disorder Working Group of the Psychiatric GWAS Consortium, et al. Mol Psychiatry, 2013 Apr. PMID 22472876, Free PMC Article
  3. Characterization of the human ABC superfamily: isolation and mapping of 21 new genes using the expressed sequence tags database. Allikmets R, et al. Hum Mol Genet, 1996 Oct. PMID 8894702
  4. The human ATP-binding cassette (ABC) transporter superfamily. Dean M, et al. Genome Res, 2001 Jul. PMID 11435397
  5. Mass spectrometry-based proteomic analysis of FSCN1-interacting proteins in laryngeal squamous cell carcinoma cells. Liu H, et al. IUBMB Life, 2019 Nov. PMID 31298480

See all (52) citations in PubMed

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 variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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_2023_10

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

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