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Protein

ATP-binding cassette sub-family F member 1

Gene

ABCF1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Isoform 2 is required for efficient Cap- and IRES-mediated mRNA translation initiation. Isoform 2 is not involved in the ribosome biogenesis.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi336 – 343ATP 1PROSITE-ProRule annotation8
Nucleotide bindingi658 – 665ATP 2PROSITE-ProRule annotation8

GO - Molecular functioni

  • ATPase activity Source: InterPro
  • ATP binding Source: UniProtKB
  • poly(A) RNA binding Source: UniProtKB
  • ribosome binding Source: UniProtKB
  • translation activator activity Source: UniProtKB
  • translation factor activity, RNA binding Source: ProtInc

GO - Biological processi

  • inflammatory response Source: ProtInc
  • positive regulation of translation Source: UniProtKB
  • translation Source: ProtInc
  • translational initiation Source: UniProtKB
  • transmembrane transport Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Activator

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000140836-MONOMER.
ReactomeiR-HSA-382556. ABC-family proteins mediated transport.
SIGNORiQ8NE71.

Names & Taxonomyi

Protein namesi
Recommended name:
ATP-binding cassette sub-family F member 1
Alternative name(s):
ATP-binding cassette 50
TNF-alpha-stimulated ABC protein
Gene namesi
Name:ABCF1
Synonyms:ABC50
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:70. ABCF1.

Subcellular locationi

Isoform 2 :

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • cytosol Source: Reactome
  • membrane Source: UniProtKB
  • nuclear envelope Source: UniProtKB
  • nucleoplasm Source: UniProtKB
  • polysomal ribosome Source: UniProtKB
  • ribosome Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi109S → A: Reduces phosphorylation. Inhibits strongly phosphorylation by CK2; when associated with S-140. Does not inhibit interaction with EIF2; when associated with S-140. Does not inhibit association with ribosomes; when associated with S-140. Reduces EIF2 interaction with ribosomes; when associated with S-140. Does not inhibit protein synthesis; when associated with A-140. 1 Publication1
Mutagenesisi140S → A: Reduces phosphorylation. Inhibits strongly phosphorylation by CK2; when associated with S-109. Does not inhibits interaction with EIF2; when associated with S-109. Does not inhibit association with ribosomes; when associated with S-109. Reduces EIF2 interaction with ribosomes; when associated with S-109. Does not inhibit protein synthesis; when associated with A-109. 1 Publication1
Mutagenesisi342K → M: Does not inhibit ribosome binding. Reduces ATP-binding. Inhibits ATP-binding and reduces protein synthesis; when associated with M-664. Shows an enhanced association with polyribosomes; when associated with M-664. Does not inhibit IRES-mediated protein synthesis; when associated with M-664. 1 Publication1
Mutagenesisi367Q → E: Does not inhibit ribosome binding. 1 Publication1
Mutagenesisi454G → D: Does not inhibit ribosome binding. 1 Publication1
Mutagenesisi477E → Q: Does not inhibit ribosome binding. Reduces protein synthesis; when associated with Q-768. 1 Publication1
Mutagenesisi506H → L: Does not inhibit ribosome binding. 1 Publication1
Mutagenesisi664K → M: Does not inhibit ribosome binding. Reduces ATP-binding. Inhibits ATP-binding and reduces protein synthesis; when associated with M-342. Shows a reduced association with polyribosomes; when associated with M-664. Does not inhibit IRES-mediated protein synthesis; when associated with M-664. 1 Publication1
Mutagenesisi695Q → E: Does not inhibit ribosome binding. 1 Publication1
Mutagenesisi745G → D: Does not inhibit ribosome binding. 1 Publication1
Mutagenesisi768E → Q: Does not inhibit ribosome binding. Reduces protein synthesis; when associated with Q-477. 1 Publication1
Mutagenesisi797H → L: Does not inhibit ribosome binding. 1 Publication1

Organism-specific databases

DisGeNETi23.
OpenTargetsiENSG00000204574.
ENSG00000206490.
ENSG00000225989.
ENSG00000231129.
ENSG00000232169.
ENSG00000236149.
ENSG00000236342.
PharmGKBiPA24405.

Polymorphism and mutation databases

BioMutaiABCF1.
DMDMi56417894.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000933181 – 845ATP-binding cassette sub-family F member 1Add BLAST845

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei22PhosphoserineCombined sources1
Modified residuei24PhosphoserineCombined sources1
Modified residuei105PhosphoserineCombined sources1
Modified residuei108PhosphothreonineCombined sources1
Modified residuei109Phosphoserine; by CK2Combined sources1 Publication1
Modified residuei140Phosphoserine; by CK2Combined sources1 Publication1
Modified residuei166PhosphoserineCombined sources1
Modified residuei228PhosphoserineCombined sources1
Modified residuei595PhosphoserineCombined sources1

Post-translational modificationi

Isoform 2 is phosphorylated at phosphoserine and phosphothreonine. Isoform 2 phosphorylation on Ser-109 and Ser-140 by CK2; inhibits association of EIF2 with ribosomes.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ8NE71.
MaxQBiQ8NE71.
PaxDbiQ8NE71.
PeptideAtlasiQ8NE71.
PRIDEiQ8NE71.

PTM databases

iPTMnetiQ8NE71.
PhosphoSitePlusiQ8NE71.
SwissPalmiQ8NE71.

Expressioni

Tissue specificityi

Ubiquitous.1 Publication

Inductioni

By TNF in cultured synoviocytes.

Gene expression databases

BgeeiENSG00000204574.
CleanExiHS_ABCF1.
ExpressionAtlasiQ8NE71. baseline and differential.
GenevisibleiQ8NE71. HS.

Organism-specific databases

HPAiHPA017578.

Interactioni

Subunit structurei

Isoform 2 interacts (via N-terminus) with EIF2S1; the interaction is independent of its phosphorylated status. Isoform 2 associates (via both ABC transporter domains) with the ribosomes.1 Publication

Protein-protein interaction databases

BioGridi106541. 62 interactors.
DIPiDIP-50666N.
IntActiQ8NE71. 18 interactors.
MINTiMINT-1392646.
STRINGi9606.ENSP00000313603.

Structurei

3D structure databases

ProteinModelPortaliQ8NE71.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini304 – 548ABC transporter 1PROSITE-ProRule annotationAdd BLAST245
Domaini625 – 840ABC transporter 2PROSITE-ProRule annotationAdd BLAST216

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi141 – 243Glu-richAdd BLAST103

Sequence similaritiesi

Contains 2 ABC transporter domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG0066. Eukaryota.
COG0488. LUCA.
GeneTreeiENSGT00630000089843.
HOGENOMiHOG000271637.
HOVERGENiHBG050440.
InParanoidiQ8NE71.
KOiK06184.
OMAiQEYERQM.
OrthoDBiEOG091G031N.
PhylomeDBiQ8NE71.
TreeFamiTF105207.

Family and domain databases

Gene3Di3.40.50.300. 2 hits.
InterProiIPR003593. AAA+_ATPase.
IPR032781. ABC_tran_Xtn.
IPR003439. ABC_transporter-like.
IPR017871. ABC_transporter_CS.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamiPF00005. ABC_tran. 2 hits.
PF12848. ABC_tran_Xtn. 1 hit.
[Graphical view]
SMARTiSM00382. AAA. 2 hits.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 3 hits.
PROSITEiPS00211. ABC_TRANSPORTER_1. 2 hits.
PS50893. ABC_TRANSPORTER_2. 2 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8NE71-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MPKAPKQQPP EPEWIGDGES TSPSDKVVKK GKKDKKIKKT FFEELAVEDK
60 70 80 90 100
QAGEEEKVLK EKEQQQQQQQ QQQKKKRDTR KGRRKKDVDD DGEEKELMER
110 120 130 140 150
LKKLSVPTSD EEDEVPAPKP RGGKKTKGGN VFAALIQDQS EEEEEEEKHP
160 170 180 190 200
PKPAKPEKNR INKAVSEEQQ PALKGKKGKE EKSKGKAKPQ NKFAALDNEE
210 220 230 240 250
EDKEEEIIKE KEPPKQGKEK AKKAEQGSEE EGEGEEEEEE GGESKADDPY
260 270 280 290 300
AHLSKKEKKK LKKQMEYERQ VASLKAANAA ENDFSVSQAE MSSRQAMLEN
310 320 330 340 350
ASDIKLEKFS ISAHGKELFV NADLYIVAGR RYGLVGPNGK GKTTLLKHIA
360 370 380 390 400
NRALSIPPNI DVLLCEQEVV ADETPAVQAV LRADTKRLKL LEEERRLQGQ
410 420 430 440 450
LEQGDDTAAE RLEKVYEELR ATGAAAAEAK ARRILAGLGF DPEMQNRPTQ
460 470 480 490 500
KFSGGWRMRV SLARALFMEP TLLMLDEPTN HLDLNAVIWL NNYLQGWRKT
510 520 530 540 550
LLIVSHDQGF LDDVCTDIIH LDAQRLHYYR GNYMTFKKMY QQKQKELLKQ
560 570 580 590 600
YEKQEKKLKE LKAGGKSTKQ AEKQTKEALT RKQQKCRRKN QDEESQEAPE
610 620 630 640 650
LLKRPKEYTV RFTFPDPPPL SPPVLGLHGV TFGYQGQKPL FKNLDFGIDM
660 670 680 690 700
DSRICIVGPN GVGKSTLLLL LTGKLTPTHG EMRKNHRLKI GFFNQQYAEQ
710 720 730 740 750
LRMEETPTEY LQRGFNLPYQ DARKCLGRFG LESHAHTIQI CKLSGGQKAR
760 770 780 790 800
VVFAELACRE PDVLILDEPT NNLDIESIDA LGEAINEYKG AVIVVSHDAR
810 820 830 840
LITETNCQLW VVEEQSVSQI DGDFEDYKRE VLEALGEVMV SRPRE
Length:845
Mass (Da):95,926
Last modified:December 7, 2004 - v2
Checksum:i5C5AA662DF4C99E4
GO
Isoform 2 (identifier: Q8NE71-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     226-263: Missing.

Show »
Length:807
Mass (Da):91,680
Checksum:i1B6547EABEE7FC75
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti166S → P in AAH34488 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_048136198N → D.Corresponds to variant rs6902544dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_012078226 – 263Missing in isoform 2. 1 PublicationAdd BLAST38

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF027302 mRNA. Translation: AAC70891.1.
BA000025 Genomic DNA. Translation: BAB63325.1.
AB088096 Genomic DNA. Translation: BAC54928.1.
AL662800 Genomic DNA. Translation: CAI18158.1.
AL662800 Genomic DNA. Translation: CAI18159.1.
AL662825 Genomic DNA. Translation: CAI17836.1.
AL662825 Genomic DNA. Translation: CAI17837.1.
BX000357 Genomic DNA. Translation: CAI18562.1.
BX000357 Genomic DNA. Translation: CAI18563.1.
BX119957, BX248518 Genomic DNA. Translation: CAM25907.1.
BX248518, BX119957 Genomic DNA. Translation: CAM26017.1.
CR753328, CR388372 Genomic DNA. Translation: CAQ07804.1.
CR388372, CR753328 Genomic DNA. Translation: CAQ07873.1.
BX927220 Genomic DNA. Translation: CAQ09058.1.
CR759778, CR847863 Genomic DNA. Translation: CAQ09401.1.
CR847863, CR759778 Genomic DNA. Translation: CAQ10059.1.
BC034488 mRNA. Translation: AAH34488.1.
BC112923 mRNA. Translation: AAI12924.1.
AL832430 mRNA. Translation: CAH10648.1.
CCDSiCCDS34380.1. [Q8NE71-1]
CCDS34381.1. [Q8NE71-2]
RefSeqiNP_001020262.1. NM_001025091.1. [Q8NE71-1]
NP_001081.1. NM_001090.2. [Q8NE71-2]
UniGeneiHs.655285.

Genome annotation databases

EnsembliENST00000326195; ENSP00000313603; ENSG00000204574. [Q8NE71-1]
ENST00000376545; ENSP00000365728; ENSG00000204574. [Q8NE71-2]
ENST00000383587; ENSP00000373081; ENSG00000206490. [Q8NE71-2]
ENST00000383588; ENSP00000373082; ENSG00000206490. [Q8NE71-1]
ENST00000412443; ENSP00000404726; ENSG00000236342. [Q8NE71-2]
ENST00000419893; ENSP00000389065; ENSG00000232169. [Q8NE71-1]
ENST00000420257; ENSP00000391102; ENSG00000225989. [Q8NE71-2]
ENST00000421042; ENSP00000393143; ENSG00000231129. [Q8NE71-2]
ENST00000423247; ENSP00000411327; ENSG00000225989. [Q8NE71-1]
ENST00000426219; ENSP00000414373; ENSG00000231129. [Q8NE71-1]
ENST00000448939; ENSP00000403526; ENSG00000232169. [Q8NE71-2]
ENST00000452530; ENSP00000389472; ENSG00000236149. [Q8NE71-2]
ENST00000457078; ENSP00000412553; ENSG00000236342. [Q8NE71-1]
ENST00000457111; ENSP00000413319; ENSG00000236149. [Q8NE71-1]
GeneIDi23.
KEGGihsa:23.
UCSCiuc003nql.4. human. [Q8NE71-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

ABCMdb

Database for mutations in ABC proteins

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF027302 mRNA. Translation: AAC70891.1.
BA000025 Genomic DNA. Translation: BAB63325.1.
AB088096 Genomic DNA. Translation: BAC54928.1.
AL662800 Genomic DNA. Translation: CAI18158.1.
AL662800 Genomic DNA. Translation: CAI18159.1.
AL662825 Genomic DNA. Translation: CAI17836.1.
AL662825 Genomic DNA. Translation: CAI17837.1.
BX000357 Genomic DNA. Translation: CAI18562.1.
BX000357 Genomic DNA. Translation: CAI18563.1.
BX119957, BX248518 Genomic DNA. Translation: CAM25907.1.
BX248518, BX119957 Genomic DNA. Translation: CAM26017.1.
CR753328, CR388372 Genomic DNA. Translation: CAQ07804.1.
CR388372, CR753328 Genomic DNA. Translation: CAQ07873.1.
BX927220 Genomic DNA. Translation: CAQ09058.1.
CR759778, CR847863 Genomic DNA. Translation: CAQ09401.1.
CR847863, CR759778 Genomic DNA. Translation: CAQ10059.1.
BC034488 mRNA. Translation: AAH34488.1.
BC112923 mRNA. Translation: AAI12924.1.
AL832430 mRNA. Translation: CAH10648.1.
CCDSiCCDS34380.1. [Q8NE71-1]
CCDS34381.1. [Q8NE71-2]
RefSeqiNP_001020262.1. NM_001025091.1. [Q8NE71-1]
NP_001081.1. NM_001090.2. [Q8NE71-2]
UniGeneiHs.655285.

3D structure databases

ProteinModelPortaliQ8NE71.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106541. 62 interactors.
DIPiDIP-50666N.
IntActiQ8NE71. 18 interactors.
MINTiMINT-1392646.
STRINGi9606.ENSP00000313603.

PTM databases

iPTMnetiQ8NE71.
PhosphoSitePlusiQ8NE71.
SwissPalmiQ8NE71.

Polymorphism and mutation databases

BioMutaiABCF1.
DMDMi56417894.

Proteomic databases

EPDiQ8NE71.
MaxQBiQ8NE71.
PaxDbiQ8NE71.
PeptideAtlasiQ8NE71.
PRIDEiQ8NE71.

Protocols and materials databases

DNASUi23.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000326195; ENSP00000313603; ENSG00000204574. [Q8NE71-1]
ENST00000376545; ENSP00000365728; ENSG00000204574. [Q8NE71-2]
ENST00000383587; ENSP00000373081; ENSG00000206490. [Q8NE71-2]
ENST00000383588; ENSP00000373082; ENSG00000206490. [Q8NE71-1]
ENST00000412443; ENSP00000404726; ENSG00000236342. [Q8NE71-2]
ENST00000419893; ENSP00000389065; ENSG00000232169. [Q8NE71-1]
ENST00000420257; ENSP00000391102; ENSG00000225989. [Q8NE71-2]
ENST00000421042; ENSP00000393143; ENSG00000231129. [Q8NE71-2]
ENST00000423247; ENSP00000411327; ENSG00000225989. [Q8NE71-1]
ENST00000426219; ENSP00000414373; ENSG00000231129. [Q8NE71-1]
ENST00000448939; ENSP00000403526; ENSG00000232169. [Q8NE71-2]
ENST00000452530; ENSP00000389472; ENSG00000236149. [Q8NE71-2]
ENST00000457078; ENSP00000412553; ENSG00000236342. [Q8NE71-1]
ENST00000457111; ENSP00000413319; ENSG00000236149. [Q8NE71-1]
GeneIDi23.
KEGGihsa:23.
UCSCiuc003nql.4. human. [Q8NE71-1]

Organism-specific databases

CTDi23.
DisGeNETi23.
GeneCardsiABCF1.
HGNCiHGNC:70. ABCF1.
HPAiHPA017578.
MIMi603429. gene.
neXtProtiNX_Q8NE71.
OpenTargetsiENSG00000204574.
ENSG00000206490.
ENSG00000225989.
ENSG00000231129.
ENSG00000232169.
ENSG00000236149.
ENSG00000236342.
PharmGKBiPA24405.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0066. Eukaryota.
COG0488. LUCA.
GeneTreeiENSGT00630000089843.
HOGENOMiHOG000271637.
HOVERGENiHBG050440.
InParanoidiQ8NE71.
KOiK06184.
OMAiQEYERQM.
OrthoDBiEOG091G031N.
PhylomeDBiQ8NE71.
TreeFamiTF105207.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000140836-MONOMER.
ReactomeiR-HSA-382556. ABC-family proteins mediated transport.
SIGNORiQ8NE71.

Miscellaneous databases

ChiTaRSiABCF1. human.
GeneWikiiABCF1.
GenomeRNAii23.
PROiQ8NE71.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000204574.
CleanExiHS_ABCF1.
ExpressionAtlasiQ8NE71. baseline and differential.
GenevisibleiQ8NE71. HS.

Family and domain databases

Gene3Di3.40.50.300. 2 hits.
InterProiIPR003593. AAA+_ATPase.
IPR032781. ABC_tran_Xtn.
IPR003439. ABC_transporter-like.
IPR017871. ABC_transporter_CS.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamiPF00005. ABC_tran. 2 hits.
PF12848. ABC_tran_Xtn. 1 hit.
[Graphical view]
SMARTiSM00382. AAA. 2 hits.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 3 hits.
PROSITEiPS00211. ABC_TRANSPORTER_1. 2 hits.
PS50893. ABC_TRANSPORTER_2. 2 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiABCF1_HUMAN
AccessioniPrimary (citable) accession number: Q8NE71
Secondary accession number(s): A2BF75, O14897, Q69YP6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 7, 2004
Last sequence update: December 7, 2004
Last modified: November 30, 2016
This is version 142 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.