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Protein

Sideroflexin-4

Gene

SFXN4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

Potential iron transporter.By similarity

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Ion transport, Iron transport, Transport

Keywords - Ligandi

Iron

Protein family/group databases

TCDBi2.A.54.1.3. the mitochondrial tricarboxylate carrier (mtc) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Sideroflexin-4
Alternative name(s):
Breast cancer resistance marker 1
Gene namesi
Name:SFXN4
Synonyms:BCRM1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:16088. SFXN4.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei111 – 13121HelicalSequence AnalysisAdd
BLAST
Transmembranei133 – 15321HelicalSequence AnalysisAdd
BLAST
Transmembranei165 – 18521HelicalSequence AnalysisAdd
BLAST
Transmembranei251 – 27121HelicalSequence AnalysisAdd
BLAST
Transmembranei293 – 31321HelicalSequence AnalysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

Combined oxidative phosphorylation deficiency 18 (COXPD18)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionAn autosomal recessive disorder of mitochondrial dysfunction characterized by intrauterine growth retardation, hypotonia, visual impairment, speech delay, and lactic acidosis associated with decreased mitochondrial respiratory chain activity. Affected patients may also show hematologic abnormalities, mainly macrocytic anemia.

See also OMIM:615578

Organism-specific databases

MIMi615578. phenotype.
Orphaneti391348. Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome.
PharmGKBiPA38093.

Polymorphism and mutation databases

BioMutaiSFXN4.
DMDMi71153761.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed2 Publications
Chaini2 – 337336Sideroflexin-4PRO_0000177041Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylserine2 Publications
Modified residuei197 – 1971N6-acetyllysine1 Publication

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiQ6P4A7.
PaxDbiQ6P4A7.
PRIDEiQ6P4A7.

PTM databases

PhosphoSiteiQ6P4A7.

Expressioni

Gene expression databases

BgeeiQ6P4A7.
CleanExiHS_SFXN4.
ExpressionAtlasiQ6P4A7. baseline and differential.
GenevisibleiQ6P4A7. HS.

Organism-specific databases

HPAiHPA018028.
HPA020872.

Interactioni

Protein-protein interaction databases

BioGridi125645. 4 interactions.
IntActiQ6P4A7. 5 interactions.
STRINGi9606.ENSP00000347924.

Structurei

3D structure databases

ProteinModelPortaliQ6P4A7.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the sideroflexin family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG315418.
GeneTreeiENSGT00390000002026.
HOGENOMiHOG000010305.
HOVERGENiHBG104924.
InParanoidiQ6P4A7.
OMAiRFWITER.
OrthoDBiEOG7J70G0.
PhylomeDBiQ6P4A7.
TreeFamiTF313205.

Family and domain databases

InterProiIPR004686. Mtc.
IPR028825. SFXN4.
[Graphical view]
PANTHERiPTHR11153. PTHR11153. 1 hit.
PTHR11153:SF3. PTHR11153:SF3. 1 hit.
PfamiPF03820. Mtc. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q6P4A7-1) [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
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
Length:337
Mass (Da):37,998
Last modified:July 5, 2004 - v1
Checksum:i77A08F150D241277
GO
Isoform 2 (identifier: Q6P4A7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     85-93: Missing.
     313-337: IQYCSLEEKIQSPTEETEIFYHRGV → VT

Note: No experimental confirmation available.
Show »
Length:305
Mass (Da):34,104
Checksum:iA0E3CFE491DDB508
GO
Isoform 3 (identifier: Q6P4A7-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-116: Missing.

Note: No experimental confirmation available.
Show »
Length:221
Mass (Da):24,587
Checksum:iA6E9596C3E438E0F
GO

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 116116Missing in isoform 3. 1 PublicationVSP_014608Add
BLAST
Alternative sequencei85 – 939Missing in isoform 2. 1 PublicationVSP_014609
Alternative sequencei313 – 33725IQYCS…YHRGV → VT in isoform 2. 1 PublicationVSP_014610Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF336980 mRNA. Translation: AAP23066.1.
AY269785 mRNA. Translation: AAP97074.1.
AL355598, AL355861 Genomic DNA. Translation: CAI14126.1.
AL355861, AL355598 Genomic DNA. Translation: CAI15801.1.
BC063562 mRNA. Translation: AAH63562.1.
CCDSiCCDS7610.1. [Q6P4A7-1]
RefSeqiNP_998814.1. NM_213649.1. [Q6P4A7-1]
XP_005269583.1. XM_005269526.1. [Q6P4A7-3]
XP_005269584.1. XM_005269527.1. [Q6P4A7-3]
XP_011537584.1. XM_011539282.1. [Q6P4A7-3]
UniGeneiHs.655168.

Genome annotation databases

EnsembliENST00000355697; ENSP00000347924; ENSG00000183605.
GeneIDi119559.
KEGGihsa:119559.
UCSCiuc001ldy.3. human. [Q6P4A7-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF336980 mRNA. Translation: AAP23066.1.
AY269785 mRNA. Translation: AAP97074.1.
AL355598, AL355861 Genomic DNA. Translation: CAI14126.1.
AL355861, AL355598 Genomic DNA. Translation: CAI15801.1.
BC063562 mRNA. Translation: AAH63562.1.
CCDSiCCDS7610.1. [Q6P4A7-1]
RefSeqiNP_998814.1. NM_213649.1. [Q6P4A7-1]
XP_005269583.1. XM_005269526.1. [Q6P4A7-3]
XP_005269584.1. XM_005269527.1. [Q6P4A7-3]
XP_011537584.1. XM_011539282.1. [Q6P4A7-3]
UniGeneiHs.655168.

3D structure databases

ProteinModelPortaliQ6P4A7.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125645. 4 interactions.
IntActiQ6P4A7. 5 interactions.
STRINGi9606.ENSP00000347924.

Protein family/group databases

TCDBi2.A.54.1.3. the mitochondrial tricarboxylate carrier (mtc) family.

PTM databases

PhosphoSiteiQ6P4A7.

Polymorphism and mutation databases

BioMutaiSFXN4.
DMDMi71153761.

Proteomic databases

MaxQBiQ6P4A7.
PaxDbiQ6P4A7.
PRIDEiQ6P4A7.

Protocols and materials databases

DNASUi119559.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000355697; ENSP00000347924; ENSG00000183605.
GeneIDi119559.
KEGGihsa:119559.
UCSCiuc001ldy.3. human. [Q6P4A7-1]

Organism-specific databases

CTDi119559.
GeneCardsiGC10M120890.
HGNCiHGNC:16088. SFXN4.
HPAiHPA018028.
HPA020872.
MIMi615564. gene.
615578. phenotype.
neXtProtiNX_Q6P4A7.
Orphaneti391348. Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome.
PharmGKBiPA38093.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG315418.
GeneTreeiENSGT00390000002026.
HOGENOMiHOG000010305.
HOVERGENiHBG104924.
InParanoidiQ6P4A7.
OMAiRFWITER.
OrthoDBiEOG7J70G0.
PhylomeDBiQ6P4A7.
TreeFamiTF313205.

Miscellaneous databases

ChiTaRSiSFXN4. human.
GenomeRNAii119559.
NextBioi80437.
PROiQ6P4A7.
SOURCEiSearch...

Gene expression databases

BgeeiQ6P4A7.
CleanExiHS_SFXN4.
ExpressionAtlasiQ6P4A7. baseline and differential.
GenevisibleiQ6P4A7. HS.

Family and domain databases

InterProiIPR004686. Mtc.
IPR028825. SFXN4.
[Graphical view]
PANTHERiPTHR11153. PTHR11153. 1 hit.
PTHR11153:SF3. PTHR11153:SF3. 1 hit.
PfamiPF03820. Mtc. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "BCRM-1, a novel tumor marker for refractory cancers."
    Auclair D., Gong Y., Dai M., Kraeft S.-K., Chen L.B.
    Submitted (JAN-2001) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
    Tissue: Mammary tumor.
  2. "Molecular cloning and characterization of a novel human putative transmembrane protein homologous to mouse sideroflexin associated with sideroblastic anemia."
    Zheng H., Ji C., Zou X., Wu M., Jin Z., Yin G., Li J., Feng C., Cheng H., Gu S., Xie Y., Mao Y.
    DNA Seq. 14:369-373(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
  3. "The DNA sequence and comparative analysis of human chromosome 10."
    Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J.
    , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
    Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Placenta.
  5. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
    Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
    Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT SER-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
  6. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."
    Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M.
    Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-197, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  8. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT SER-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
  9. Cited for: INVOLVEMENT IN COXPD18, SUBCELLULAR LOCATION.

Entry informationi

Entry nameiSFXN4_HUMAN
AccessioniPrimary (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: July 22, 2015
This is version 102 of the entry and version 1 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 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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 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.