Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

UniProtKB - Q8NE71 (ABCF1_HUMAN)

Entry version 176 (02 Dec 2020)
Sequence version 2 (07 Dec 2004)
Previous versions | rss
Add a publicationFeedback
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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi336 – 343ATP 1PROSITE-ProRule annotation8
Nucleotide bindingi658 – 665ATP 2PROSITE-ProRule annotation8

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionActivator
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q8NE71

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-382556, ABC-family proteins mediated transport

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q8NE71

Protein family/group databases

Transport Classification Database

More...TCDBi		3.A.1.121.8, the atp-binding cassette (abc) superfamily

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
ATP-binding cassette sub-family F member 1
Alternative name(s):
ATP-binding cassette 50
TNF-alpha-stimulated ABC protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ABCF1
Synonyms:ABC50
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 6

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000204574.12

Human Gene Nomenclature Database

More...HGNCi		HGNC:70, ABCF1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		603429, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q8NE71

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>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

DisGeNET

More...DisGeNETi		23

Open Targets

More...OpenTargetsi		ENSG00000204574

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA24405

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q8NE71, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		ABCF1

Domain mapping of disease mutations (DMDM)

More...DMDMi		56417894

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000933181 – 845ATP-binding cassette sub-family F member 1Add BLAST845

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>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

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>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

The CPTAC Assay portal

More...CPTACi		CPTAC-301
CPTAC-302

Encyclopedia of Proteome Dynamics

More...EPDi		Q8NE71

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q8NE71

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q8NE71

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q8NE71

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q8NE71

PeptideAtlas

More...PeptideAtlasi		Q8NE71

PRoteomics IDEntifications database

More...PRIDEi		Q8NE71

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		73130 [Q8NE71-1]
73131 [Q8NE71-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q8NE71

MetOSite database of methionine sulfoxide sites

More...MetOSitei		Q8NE71

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q8NE71

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q8NE71

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Ubiquitous.1 Publication

<p>This subsection of the 'Expression' section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

By TNF in cultured synoviocytes.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000204574, Expressed in sural nerve and 233 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q8NE71, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q8NE71, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000204574, Tissue enhanced (skeletal)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		106541, 97 interactors

Database of interacting proteins

More...DIPi		DIP-50666N

Protein interaction database and analysis system

More...IntActi		Q8NE71, 36 interactors

Molecular INTeraction database

More...MINTi		Q8NE71

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000313603

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q8NE71, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1845
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q8NE71

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini304 – 548ABC transporter 1PROSITE-ProRule annotationAdd BLAST245
Domaini625 – 840ABC transporter 2PROSITE-ProRule annotationAdd BLAST216

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi141 – 243Glu-richAdd BLAST103

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the ABC transporter superfamily. ABCF family. EF3 subfamily.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0066, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000158329

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_000604_36_5_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q8NE71

Identification of Orthologs from Complete Genome Data

More...OMAi		FMVTHDR

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q8NE71

TreeFam database of animal gene trees

More...TreeFami		TF105207

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR003593, AAA+_ATPase
IPR003439, ABC_transporter-like
IPR017871, ABC_transporter_CS
IPR027417, P-loop_NTPase

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00005, ABC_tran, 2 hits

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00382, AAA, 2 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF52540, SSF52540, 2 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00211, ABC_TRANSPORTER_1, 2 hits
PS50893, ABC_TRANSPORTER_2, 2 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

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

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F5GYK6F5GYK6_HUMAN
ATP-binding cassette sub-family F m...
ABCF1
105Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q5STZ8Q5STZ8_HUMAN
ATP-binding cassette sub-family F m...
ABCF1
339Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YGW7H0YGW7_HUMAN
ATP-binding cassette sub-family F m...
ABCF1
596Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0G2JIC2A0A0G2JIC2_HUMAN
ATP-binding cassette sub-family F m...
ABCF1
238Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti166S → P in AAH34488 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_048136198N → D. Corresponds to variant dbSNP:rs6902544Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_012078226 – 263Missing in isoform 2. 1 PublicationAdd BLAST38

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AF027302 mRNA Translation: AAC70891.1
BA000025 Genomic DNA Translation: BAB63325.1
AB088096 Genomic DNA Translation: BAC54928.1
AL662800 Genomic DNA No translation available.
AL662825 Genomic DNA No translation available.
BX000357 Genomic DNA No translation available.
BX119957 Genomic DNA No translation available.
BX248518 Genomic DNA No translation available.
CR753328 Genomic DNA No translation available.
CR388372 Genomic DNA No translation available.
BX927220 Genomic DNA No translation available.
CR759778 Genomic DNA No translation available.
CR847863 Genomic DNA No translation available.
BC034488 mRNA Translation: AAH34488.1
BC112923 mRNA Translation: AAI12924.1
AL832430 mRNA Translation: CAH10648.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS34380.1 [Q8NE71-1]
CCDS34381.1 [Q8NE71-2]

NCBI Reference Sequences

More...RefSeqi		NP_001020262.1, NM_001025091.1 [Q8NE71-1]
NP_001081.1, NM_001090.2 [Q8NE71-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000326195; 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]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		23

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:23

UCSC genome browser

More...UCSCi		uc003nql.4, human [Q8NE71-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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 No translation available.
AL662825 Genomic DNA No translation available.
BX000357 Genomic DNA No translation available.
BX119957 Genomic DNA No translation available.
BX248518 Genomic DNA No translation available.
CR753328 Genomic DNA No translation available.
CR388372 Genomic DNA No translation available.
BX927220 Genomic DNA No translation available.
CR759778 Genomic DNA No translation available.
CR847863 Genomic DNA No translation available.
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]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5ZXDX-ray2.29A/B300-841[»]
SMRiQ8NE71
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi106541, 97 interactors
DIPiDIP-50666N
IntActiQ8NE71, 36 interactors
MINTiQ8NE71
STRINGi9606.ENSP00000313603

Protein family/group databases

TCDBi3.A.1.121.8, the atp-binding cassette (abc) superfamily

PTM databases

iPTMnetiQ8NE71
MetOSiteiQ8NE71
PhosphoSitePlusiQ8NE71
SwissPalmiQ8NE71

Polymorphism and mutation databases

BioMutaiABCF1
DMDMi56417894

Proteomic databases

CPTACiCPTAC-301
CPTAC-302
EPDiQ8NE71
jPOSTiQ8NE71
MassIVEiQ8NE71
MaxQBiQ8NE71
PaxDbiQ8NE71
PeptideAtlasiQ8NE71
PRIDEiQ8NE71
ProteomicsDBi73130 [Q8NE71-1]
73131 [Q8NE71-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		2796, 285 antibodies

The DNASU plasmid repository

More...DNASUi		23

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

Comparative Toxicogenomics Database

More...CTDi		23
DisGeNETi23
EuPathDBiHostDB:ENSG00000204574.12

GeneCards: human genes, protein and diseases

More...GeneCardsi		ABCF1
HGNCiHGNC:70, ABCF1
HPAiENSG00000204574, Tissue enhanced (skeletal)
MIMi603429, gene
neXtProtiNX_Q8NE71
OpenTargetsiENSG00000204574
PharmGKBiPA24405

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0066, Eukaryota
GeneTreeiENSGT00940000158329
HOGENOMiCLU_000604_36_5_1
InParanoidiQ8NE71
OMAiFMVTHDR
PhylomeDBiQ8NE71
TreeFamiTF105207

Enzyme and pathway databases

PathwayCommonsiQ8NE71
ReactomeiR-HSA-382556, ABC-family proteins mediated transport
SIGNORiQ8NE71

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		23, 652 hits in 855 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		ABCF1, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		ABCF1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		23
PharosiQ8NE71, Tbio

Protein Ontology

More...PROi		PR:Q8NE71
RNActiQ8NE71, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000204574, Expressed in sural nerve and 233 other tissues
ExpressionAtlasiQ8NE71, baseline and differential
GenevisibleiQ8NE71, HS

Family and domain databases

InterProiView protein in InterPro
IPR003593, AAA+_ATPase
IPR003439, ABC_transporter-like
IPR017871, ABC_transporter_CS
IPR027417, P-loop_NTPase
PfamiView protein in Pfam
PF00005, ABC_tran, 2 hits
SMARTiView protein in SMART
SM00382, AAA, 2 hits
SUPFAMiSSF52540, SSF52540, 2 hits
PROSITEiView protein in PROSITE
PS00211, ABC_TRANSPORTER_1, 2 hits
PS50893, ABC_TRANSPORTER_2, 2 hits

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiABCF1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8NE71
Secondary accession number(s): A2BF75, O14897, Q69YP6
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 7, 2004
Last sequence update: December 7, 2004
Last modified: December 2, 2020
This is version 176 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. SIMILARITY comments
    Index of protein domains and families
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again