UniProtKB - Q6P4A7 (SFXN4_HUMAN)
Sideroflexin-4
SFXN4
Functioni
Mitochondrial amino-acid transporter (By similarity).
Does not act as a serine transporter: not able to mediate transport of serine into mitochondria (PubMed:30442778).
By similarity1 PublicationGO - Molecular functioni
- ion transmembrane transporter activity Source: InterPro
- transmembrane transporter activity Source: GO_Central
GO - Biological processi
- amino acid transport Source: UniProtKB-KW
- mitochondrial transmembrane transport Source: GO_Central
Keywordsi
Biological process | Amino-acid transport, Transport |
Enzyme and pathway databases
PathwayCommonsi | Q6P4A7 |
SignaLinki | Q6P4A7 |
Protein family/group databases
TCDBi | 2.A.54.1.3, the sideroflexin (sfxn) family (formerly the mitochondrial tricarboxylate carrier (mtc) family |
Names & Taxonomyi
Protein namesi | Recommended name: Sideroflexin-41 PublicationAlternative name(s): Breast cancer resistance marker 11 Publication |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:16088, SFXN4 |
MIMi | 615564, gene |
neXtProti | NX_Q6P4A7 |
VEuPathDBi | HostDB:ENSG00000183605 |
Subcellular locationi
Mitochondrion
- Mitochondrion inner membrane 1 Publication1 Publication; Multi-pass membrane protein Sequence analysis
Mitochondrion
- integral component of mitochondrial inner membrane Source: GO_Central
- mitochondrion Source: UniProtKB
Nucleus
- nucleoplasm Source: HPA
Other locations
- intracellular membrane-bounded organelle Source: HPA
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transmembranei | 111 – 131 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 133 – 153 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 165 – 185 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 251 – 271 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 293 – 313 | HelicalSequence analysisAdd BLAST | 21 |
Keywords - Cellular componenti
Membrane, Mitochondrion, Mitochondrion inner membranePathology & Biotechi
Involvement in diseasei
Combined oxidative phosphorylation deficiency 18 (COXPD18)1 Publication
Keywords - Diseasei
Primary mitochondrial diseaseOrganism-specific databases
DisGeNETi | 119559 |
MalaCardsi | SFXN4 |
MIMi | 615578, phenotype |
OpenTargetsi | ENSG00000183605 |
Orphaneti | 391348, Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome |
PharmGKBi | PA38093 |
Miscellaneous databases
Pharosi | Q6P4A7, Tbio |
Genetic variation databases
BioMutai | SFXN4 |
DMDMi | 71153761 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | RemovedCombined sources | |||
ChainiPRO_0000177041 | 2 – 337 | Sideroflexin-4Add BLAST | 336 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 2 | N-acetylserineCombined sources | 1 | |
Modified residuei | 197 | N6-acetyllysineCombined sources | 1 |
Keywords - PTMi
AcetylationProteomic databases
EPDi | Q6P4A7 |
jPOSTi | Q6P4A7 |
MassIVEi | Q6P4A7 |
MaxQBi | Q6P4A7 |
PaxDbi | Q6P4A7 |
PeptideAtlasi | Q6P4A7 |
PRIDEi | Q6P4A7 |
ProteomicsDBi | 66955 [Q6P4A7-1] 66956 [Q6P4A7-2] 66957 [Q6P4A7-3] |
PTM databases
iPTMneti | Q6P4A7 |
PhosphoSitePlusi | Q6P4A7 |
Expressioni
Gene expression databases
Bgeei | ENSG00000183605, Expressed in muscle tissue and 212 other tissues |
ExpressionAtlasi | Q6P4A7, baseline and differential |
Genevisiblei | Q6P4A7, HS |
Organism-specific databases
HPAi | ENSG00000183605, Low tissue specificity |
Interactioni
Protein-protein interaction databases
BioGRIDi | 125645, 95 interactors |
IntActi | Q6P4A7, 22 interactors |
STRINGi | 9606.ENSP00000347924 |
Miscellaneous databases
RNActi | Q6P4A7, protein |
Structurei
3D structure databases
AlphaFoldDBi | Q6P4A7 |
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Family & Domainsi
Sequence similaritiesi
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG3767, Eukaryota |
GeneTreei | ENSGT01030000234641 |
HOGENOMi | CLU_039425_3_0_1 |
InParanoidi | Q6P4A7 |
OMAi | SYTTCAG |
OrthoDBi | 881974at2759 |
PhylomeDBi | Q6P4A7 |
TreeFami | TF313205 |
Family and domain databases
InterProi | View protein in InterPro IPR004686, Mtc IPR028825, SFXN4 |
PANTHERi | PTHR11153, PTHR11153, 1 hit PTHR11153:SF3, PTHR11153:SF3, 1 hit |
Pfami | View protein in Pfam PF03820, SFXNs, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MSLEQEEETQ PGRLLGRRDA VPAFIEPNVR FWITERQSFI RRFLQWTELL
60 70 80 90 100
DPTNVFISVE SIENSRQLLC TNEDVSSPAS ADQRIQEAWK RSLATVHPDS
110 120 130 140 150
SNLIPKLFRP AAFLPFMAPT VFLSMTPLKG IKSVILPQVF LCAYMAAFNS
160 170 180 190 200
INGNRSYTCK PLERSLLMAG AVASSTFLGV IPQFVQMKYG LTGPWIKRLL
210 220 230 240 250
PVIFLVQASG MNVYMSRSLE SIKGIAVMDK EGNVLGHSRI AGTKAVRETL
260 270 280 290 300
ASRIVLFGTS ALIPEVFTYF FKRTQYFRKN PGSLWILKLS CTVLAMGLMV
310 320 330
PFSFSIFPQI GQIQYCSLEE KIQSPTEETE IFYHRGV
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketB1AMV7 | B1AMV7_HUMAN | Sideroflexin-4 | SFXN4 | 178 | Annotation score: | ||
B1AMV8 | B1AMV8_HUMAN | Sideroflexin-4 | SFXN4 | 62 | Annotation score: |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_014608 | 1 – 116 | Missing in isoform 3. 1 PublicationAdd BLAST | 116 | |
Alternative sequenceiVSP_014609 | 85 – 93 | Missing in isoform 2. 1 Publication | 9 | |
Alternative sequenceiVSP_014610 | 313 – 337 | IQYCS…YHRGV → VT in isoform 2. 1 PublicationAdd BLAST | 25 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF336980 mRNA Translation: AAP23066.1 AY269785 mRNA Translation: AAP97074.1 AL355598 Genomic DNA No translation available. AL355861 Genomic DNA No translation available. BC063562 mRNA Translation: AAH63562.1 |
CCDSi | CCDS7610.1 [Q6P4A7-1] |
RefSeqi | NP_998814.1, NM_213649.1 [Q6P4A7-1] XP_005269583.1, XM_005269526.2 [Q6P4A7-3] XP_005269584.1, XM_005269527.1 [Q6P4A7-3] XP_011537584.1, XM_011539282.2 [Q6P4A7-3] |
Genome annotation databases
Ensembli | ENST00000355697.7; ENSP00000347924.2; ENSG00000183605.17 |
GeneIDi | 119559 |
KEGGi | hsa:119559 |
MANE-Selecti | ENST00000355697.7; ENSP00000347924.2; NM_213649.2; NP_998814.1 |
UCSCi | uc001leb.4, human [Q6P4A7-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF336980 mRNA Translation: AAP23066.1 AY269785 mRNA Translation: AAP97074.1 AL355598 Genomic DNA No translation available. AL355861 Genomic DNA No translation available. BC063562 mRNA Translation: AAH63562.1 |
CCDSi | CCDS7610.1 [Q6P4A7-1] |
RefSeqi | NP_998814.1, NM_213649.1 [Q6P4A7-1] XP_005269583.1, XM_005269526.2 [Q6P4A7-3] XP_005269584.1, XM_005269527.1 [Q6P4A7-3] XP_011537584.1, XM_011539282.2 [Q6P4A7-3] |
3D structure databases
AlphaFoldDBi | Q6P4A7 |
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 125645, 95 interactors |
IntActi | Q6P4A7, 22 interactors |
STRINGi | 9606.ENSP00000347924 |
Protein family/group databases
TCDBi | 2.A.54.1.3, the sideroflexin (sfxn) family (formerly the mitochondrial tricarboxylate carrier (mtc) family |
PTM databases
iPTMneti | Q6P4A7 |
PhosphoSitePlusi | Q6P4A7 |
Genetic variation databases
BioMutai | SFXN4 |
DMDMi | 71153761 |
Proteomic databases
EPDi | Q6P4A7 |
jPOSTi | Q6P4A7 |
MassIVEi | Q6P4A7 |
MaxQBi | Q6P4A7 |
PaxDbi | Q6P4A7 |
PeptideAtlasi | Q6P4A7 |
PRIDEi | Q6P4A7 |
ProteomicsDBi | 66955 [Q6P4A7-1] 66956 [Q6P4A7-2] 66957 [Q6P4A7-3] |
Protocols and materials databases
Antibodypediai | 18795, 125 antibodies from 20 providers |
DNASUi | 119559 |
Genome annotation databases
Ensembli | ENST00000355697.7; ENSP00000347924.2; ENSG00000183605.17 |
GeneIDi | 119559 |
KEGGi | hsa:119559 |
MANE-Selecti | ENST00000355697.7; ENSP00000347924.2; NM_213649.2; NP_998814.1 |
UCSCi | uc001leb.4, human [Q6P4A7-1] |
Organism-specific databases
CTDi | 119559 |
DisGeNETi | 119559 |
GeneCardsi | SFXN4 |
HGNCi | HGNC:16088, SFXN4 |
HPAi | ENSG00000183605, Low tissue specificity |
MalaCardsi | SFXN4 |
MIMi | 615564, gene 615578, phenotype |
neXtProti | NX_Q6P4A7 |
OpenTargetsi | ENSG00000183605 |
Orphaneti | 391348, Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome |
PharmGKBi | PA38093 |
VEuPathDBi | HostDB:ENSG00000183605 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3767, Eukaryota |
GeneTreei | ENSGT01030000234641 |
HOGENOMi | CLU_039425_3_0_1 |
InParanoidi | Q6P4A7 |
OMAi | SYTTCAG |
OrthoDBi | 881974at2759 |
PhylomeDBi | Q6P4A7 |
TreeFami | TF313205 |
Enzyme and pathway databases
PathwayCommonsi | Q6P4A7 |
SignaLinki | Q6P4A7 |
Miscellaneous databases
BioGRID-ORCSi | 119559, 18 hits in 1079 CRISPR screens |
ChiTaRSi | SFXN4, human |
GenomeRNAii | 119559 |
Pharosi | Q6P4A7, Tbio |
PROi | PR:Q6P4A7 |
RNActi | Q6P4A7, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000183605, Expressed in muscle tissue and 212 other tissues |
ExpressionAtlasi | Q6P4A7, baseline and differential |
Genevisiblei | Q6P4A7, HS |
Family and domain databases
InterProi | View protein in InterPro IPR004686, Mtc IPR028825, SFXN4 |
PANTHERi | PTHR11153, PTHR11153, 1 hit PTHR11153:SF3, PTHR11153:SF3, 1 hit |
Pfami | View protein in Pfam PF03820, SFXNs, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | SFXN4_HUMAN | |
Accessioni | Q6P4A7Primary (citable) accession number: Q6P4A7 Secondary accession number(s): Q6WSU4, Q86TD9 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 19, 2005 |
Last sequence update: | July 5, 2004 | |
Last modified: | May 25, 2022 | |
This is version 154 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 10
Human chromosome 10: entries, gene names and cross-references to MIM - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families