Gene Gene information from NCBI Gene database.
Entrez ID 23
Gene name ATP binding cassette subfamily F member 1
Gene symbol ABCF1
Synonyms (NCBI Gene)
ABC27ABC50
Chromosome 6
Chromosome location 6p21.33
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, M
miRNA miRNA information provided by mirtarbase database.
473
miRTarBase ID miRNA Experiments Reference
MIRT025000 hsa-miR-183-5p Sequencing 20371350
MIRT027413 hsa-miR-98-5p Microarray 19088304
MIRT028745 hsa-miR-26b-5p Microarray 19088304
MIRT031407 hsa-miR-16-5p Proteomics 18668040
MIRT052203 hsa-let-7b-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0005515 Function Protein binding IPI 17894550
GO:0005524 Function ATP binding IBA
GO:0005524 Function ATP binding IDA 19570978
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603429 70 ENSG00000204574
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8NE71
Protein name ATP-binding cassette sub-family F member 1 (ATP-binding cassette 50) (TNF-alpha-stimulated ABC protein)
Protein function Isoform 2 is required for efficient Cap- and IRES-mediated mRNA translation initiation. Isoform 2 is not involved in the ribosome biogenesis.
PDB 5ZXD
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00005 ABC_tran 319 480 ABC transporter Domain
PF00005 ABC_tran 641 771 ABC transporter Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:9790762}.
Sequence
MPKAPKQQPPEPEWIGDGESTSPSDKVVKKGKKDKKIKKTFFEELAVEDKQAGEEEKVLK
EKEQQQQQQQQQQKKKRDTRKGRRKKDVDDDGEEKELMERLKKLSVPTSDEEDEVPAPKP
RGGKKTKGGNVFAALIQDQSEEEEEEEKHPPKPAKPEKNRINKAVSEEQQPALKGKKGKE
EKSKGKAKPQNKFAALDNEEEDKEEEIIKEKEPPKQGKEKAKKAEQGSEEEGEGEEEEEE
GGESKADDPYAHLSKKEKKKLKKQMEYERQVASLKAANAAENDFSVSQAEMSSRQAMLEN
ASDIKLEKFSISAHGKELFVNADLYIVAGRRYGLVGPNGKGKTTLLKHIANRALSIPPNI
DVLLCEQEVVADETPAVQAVLRADTKRLKLLEEERRLQGQLEQGDDTAAERLEKVYEELR
ATGAAAAEAKARRILAGLGFDPEMQNRPTQKFSGGWRMRVSLARALFMEPTLLMLDEPTN

HLDLNAVIWLNNYLQGWRKTLLIVSHDQGFLDDVCTDIIHLDAQRLHYYRGNYMTFKKMY
QQKQKELLKQYEKQEKKLKELKAGGKSTKQAEKQTKEALTRKQQKCRRKNQDEESQEAPE
LLKRPKEYTVRFTFPDPPPLSPPVLGLHGVTFGYQGQKPLFKNLDFGIDMDSRICIVGPN
GVGKSTLLLLLTGKLTPTHGEMRKNHRLKIGFFNQQYAEQLRMEETPTEYLQRGFNLPYQ
DARKCLGRFGLESHAHTIQICKLSGGQKARVVFAELACREPDVLILDEPTN
NLDIESIDA
LGEAINEYKGAVIVVSHDARLITETNCQLWVVEEQSVSQIDGDFEDYKREVLEALGEVMV
SRPRE
Sequence length 845
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    ABC-family proteins mediated transport
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
2
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Clear cell carcinoma of kidney Uncertain significance rs2533418647 RCV005939055
Long QT syndrome Likely benign rs754981516 RCV000190191
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Anxiety Disorders Associate 33845866
Arthritis Rheumatoid Associate 27898717
Carcinogenesis Associate 37757768
Celiac Disease Associate 31554915
Eosinophilic Esophagitis Stimulate 21211656
Glioblastoma Associate 37757768
Inflammation Associate 37679460
Leukemia Associate 31487824
Lung Neoplasms Associate 37307368
Melanoma Cutaneous Malignant Associate 35722625