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Q6P4A7 (SFXN4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 95. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Sideroflexin-4
Alternative name(s):
Breast cancer resistance marker 1
Gene names
Name:SFXN4
Synonyms:BCRM1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length337 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Potential iron transporter By similarity.

Subcellular location

Mitochondrion inner membrane; Multi-pass membrane protein Ref.9.

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.9

Sequence similarities

Belongs to the sideroflexin family.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q6P4A7-1)

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.
Isoform 2 (identifier: Q6P4A7-2)

The sequence of this isoform differs from the canonical sequence as follows:
     85-93: Missing.
     313-337: IQYCSLEEKIQSPTEETEIFYHRGV → VT
Note: No experimental confirmation available.
Isoform 3 (identifier: Q6P4A7-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-116: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed Ref.5
Chain2 – 337336Sideroflexin-4
PRO_0000177041

Regions

Transmembrane111 – 13121Helical; Potential
Transmembrane133 – 15321Helical; Potential
Transmembrane165 – 18521Helical; Potential
Transmembrane251 – 27121Helical; Potential
Transmembrane293 – 31321Helical; Potential

Amino acid modifications

Modified residue21N-acetylserine Ref.5 Ref.8
Modified residue1971N6-acetyllysine Ref.6

Natural variations

Alternative sequence1 – 116116Missing in isoform 3.
VSP_014608
Alternative sequence85 – 939Missing in isoform 2.
VSP_014609
Alternative sequence313 – 33725IQYCS…YHRGV → VT in isoform 2.
VSP_014610

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified July 5, 2004. Version 1.
Checksum: 77A08F150D241277

FASTA33737,998
        10         20         30         40         50         60 
MSLEQEEETQ PGRLLGRRDA VPAFIEPNVR FWITERQSFI RRFLQWTELL DPTNVFISVE 

        70         80         90        100        110        120 
SIENSRQLLC TNEDVSSPAS ADQRIQEAWK RSLATVHPDS SNLIPKLFRP AAFLPFMAPT 

       130        140        150        160        170        180 
VFLSMTPLKG IKSVILPQVF LCAYMAAFNS INGNRSYTCK PLERSLLMAG AVASSTFLGV 

       190        200        210        220        230        240 
IPQFVQMKYG LTGPWIKRLL PVIFLVQASG MNVYMSRSLE SIKGIAVMDK EGNVLGHSRI 

       250        260        270        280        290        300 
AGTKAVRETL ASRIVLFGTS ALIPEVFTYF FKRTQYFRKN PGSLWILKLS CTVLAMGLMV 

       310        320        330 
PFSFSIFPQI GQIQYCSLEE KIQSPTEETE IFYHRGV 

« Hide

Isoform 2 [UniParc].

Checksum: A0E3CFE491DDB508
Show »

FASTA30534,104
Isoform 3 [UniParc].

Checksum: A6E9596C3E438E0F
Show »

FASTA22124,587

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[8]"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A., Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT SER-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[9]"Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4."
Hildick-Smith G.J., Cooney J.D., Garone C., Kremer L.S., Haack T.B., Thon J.N., Miyata N., Lieber D.S., Calvo S.E., Akman H.O., Yien Y.Y., Huston N.C., Branco D.S., Shah D.I., Freedman M.L., Koehler C.M., Italiano J.E. Jr., Merkenschlager A. expand/collapse author list , Beblo S., Strom T.M., Meitinger T., Freisinger P., Donati M.A., Prokisch H., Mootha V.K., DiMauro S., Paw B.H.
Am. J. Hum. Genet. 93:906-914(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN COXPD18, SUBCELLULAR LOCATION.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS7610.1. [Q6P4A7-1]
RefSeqNP_998814.1. NM_213649.1. [Q6P4A7-1]
XP_005269583.1. XM_005269526.1. [Q6P4A7-3]
XP_005269584.1. XM_005269527.1. [Q6P4A7-3]
UniGeneHs.655168.

3D structure databases

ProteinModelPortalQ6P4A7.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid125645. 3 interactions.
IntActQ6P4A7. 4 interactions.
STRING9606.ENSP00000347924.

Protein family/group databases

TCDB2.A.54.1.3. the mitochondrial tricarboxylate carrier (mtc) family.

PTM databases

PhosphoSiteQ6P4A7.

Polymorphism databases

DMDM71153761.

Proteomic databases

MaxQBQ6P4A7.
PaxDbQ6P4A7.
PRIDEQ6P4A7.

Protocols and materials databases

DNASU119559.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000355697; ENSP00000347924; ENSG00000183605. [Q6P4A7-1]
GeneID119559.
KEGGhsa:119559.
UCSCuc001ldy.3. human. [Q6P4A7-1]

Organism-specific databases

CTD119559.
GeneCardsGC10M120890.
HGNCHGNC:16088. SFXN4.
HPAHPA018028.
HPA020872.
MIM615564. gene.
615578. phenotype.
neXtProtNX_Q6P4A7.
Orphanet391348. Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome.
PharmGKBPA38093.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG315418.
HOGENOMHOG000010305.
HOVERGENHBG104924.
InParanoidQ6P4A7.
OMANVRFWIT.
OrthoDBEOG7J70G0.
PhylomeDBQ6P4A7.
TreeFamTF313205.

Gene expression databases

ArrayExpressQ6P4A7.
BgeeQ6P4A7.
CleanExHS_SFXN4.
GenevestigatorQ6P4A7.

Family and domain databases

InterProIPR004686. Mtc.
IPR028825. SFXN4.
[Graphical view]
PANTHERPTHR11153. PTHR11153. 1 hit.
PTHR11153:SF3. PTHR11153:SF3. 1 hit.
PfamPF03820. Mtc. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSSFXN4. human.
GenomeRNAi119559.
NextBio80437.
PROQ6P4A7.
SOURCESearch...

Entry information

Entry nameSFXN4_HUMAN
AccessionPrimary (citable) accession number: Q6P4A7
Secondary accession number(s): Q6WSU4, Q86TD9
Entry history
Integrated into UniProtKB/Swiss-Prot: July 19, 2005
Last sequence update: July 5, 2004
Last modified: July 9, 2014
This is version 95 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 10

Human chromosome 10: entries, gene names and cross-references to MIM