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Q6P4A7

- SFXN4_HUMAN

UniProt

Q6P4A7 - SFXN4_HUMAN

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Protein

Sideroflexin-4

Gene

SFXN4

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

Functioni

Potential iron transporter.By similarity

GO - Molecular functioni

  1. cation transmembrane transporter activity Source: InterPro

GO - Biological processi

  1. iron ion homeostasis Source: UniProtKB-KW
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: Chromosome 10

Organism-specific databases

HGNCiHGNC:16088. SFXN4.

Subcellular locationi

Mitochondrion inner membrane 1 Publication; Multi-pass membrane protein 1 Publication

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

  1. integral component of membrane Source: UniProtKB-KW
  2. intracellular membrane-bounded organelle Source: HPA
  3. mitochondrial inner membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

Combined oxidative phosphorylation deficiency 18 (COXPD18) [MIM:615578]: An 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.

Organism-specific databases

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

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.
GenevestigatoriQ6P4A7.

Organism-specific databases

HPAiHPA018028.
HPA020872.

Interactioni

Protein-protein interaction databases

BioGridi125645. 3 interactions.
IntActiQ6P4A7. 4 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.
OMAiNVRFWIT.
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. Align

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]
UniGeneiHs.655168.

Genome annotation databases

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

Polymorphism databases

DMDMi71153761.

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 .
CCDSi CCDS7610.1. [Q6P4A7-1 ]
RefSeqi NP_998814.1. NM_213649.1. [Q6P4A7-1 ]
XP_005269583.1. XM_005269526.1. [Q6P4A7-3 ]
XP_005269584.1. XM_005269527.1. [Q6P4A7-3 ]
UniGenei Hs.655168.

3D structure databases

ProteinModelPortali Q6P4A7.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 125645. 3 interactions.
IntActi Q6P4A7. 4 interactions.
STRINGi 9606.ENSP00000347924.

Protein family/group databases

TCDBi 2.A.54.1.3. the mitochondrial tricarboxylate carrier (mtc) family.

PTM databases

PhosphoSitei Q6P4A7.

Polymorphism databases

DMDMi 71153761.

Proteomic databases

MaxQBi Q6P4A7.
PaxDbi Q6P4A7.
PRIDEi Q6P4A7.

Protocols and materials databases

DNASUi 119559.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000355697 ; ENSP00000347924 ; ENSG00000183605 . [Q6P4A7-1 ]
GeneIDi 119559.
KEGGi hsa:119559.
UCSCi uc001ldy.3. human. [Q6P4A7-1 ]

Organism-specific databases

CTDi 119559.
GeneCardsi GC10M120890.
HGNCi HGNC:16088. SFXN4.
HPAi HPA018028.
HPA020872.
MIMi 615564. gene.
615578. phenotype.
neXtProti NX_Q6P4A7.
Orphaneti 391348. Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome.
PharmGKBi PA38093.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG315418.
GeneTreei ENSGT00390000002026.
HOGENOMi HOG000010305.
HOVERGENi HBG104924.
InParanoidi Q6P4A7.
OMAi NVRFWIT.
OrthoDBi EOG7J70G0.
PhylomeDBi Q6P4A7.
TreeFami TF313205.

Miscellaneous databases

ChiTaRSi SFXN4. human.
GenomeRNAii 119559.
NextBioi 80437.
PROi Q6P4A7.
SOURCEi Search...

Gene expression databases

Bgeei Q6P4A7.
CleanExi HS_SFXN4.
ExpressionAtlasi Q6P4A7. baseline and differential.
Genevestigatori Q6P4A7.

Family and domain databases

InterProi IPR004686. Mtc.
IPR028825. SFXN4.
[Graphical view ]
PANTHERi PTHR11153. PTHR11153. 1 hit.
PTHR11153:SF3. PTHR11153:SF3. 1 hit.
Pfami PF03820. Mtc. 1 hit.
[Graphical view ]
ProtoNeti Search...

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].
  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: October 29, 2014
This is version 97 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