Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q9NYZ2 (MFRN1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 102. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | 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:
Mitoferrin-1
Alternative name(s):
Mitochondrial iron transporter 1
Mitochondrial solute carrier protein
Solute carrier family 25 member 37
Gene names
Name:SLC25A37
Synonyms:MFRN, MSCP
ORF Names:HT015
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length338 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Mitochondrial iron transporter that specifically mediates iron uptake in developing erythroid cells, thereby playing an essential role in heme biosynthesis. The iron delivered into the mitochondria, presumably as Fe2+, is then probably delivered to ferrochelatase to catalyze Fe2+ incorporation into protoprophyrin IX to make heme By similarity.

Subcellular location

Mitochondrion inner membrane; Multi-pass membrane protein By similarity.

Sequence similarities

Belongs to the mitochondrial carrier (TC 2.A.29) family. [View classification]

Contains 3 Solcar repeats.

Sequence caution

The sequence AAF64141.1 differs from that shown. Reason: Frameshift at position 296.

The sequence CAH10415.1 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9NYZ2-1)

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: Q9NYZ2-2)

The sequence of this isoform differs from the canonical sequence as follows:
     149-155: AGSMATL → LKAFVWS
     156-338: Missing.
Isoform 4 (identifier: Q9NYZ2-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-151: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 338338Mitoferrin-1
PRO_0000235251

Regions

Transmembrane45 – 6420Helical; Name=1; Potential
Transmembrane106 – 12520Helical; Name=2; Potential
Transmembrane143 – 16220Helical; Name=3; Potential
Transmembrane200 – 21920Helical; Name=4; Potential
Transmembrane234 – 25320Helical; Name=5; Potential
Transmembrane301 – 32020Helical; Name=6; Potential
Repeat43 – 13189Solcar 1
Repeat141 – 22585Solcar 2
Repeat232 – 32695Solcar 3

Natural variations

Alternative sequence1 – 151151Missing in isoform 4.
VSP_018400
Alternative sequence149 – 1557AGSMATL → LKAFVWS in isoform 2.
VSP_018402
Alternative sequence156 – 338183Missing in isoform 2.
VSP_018403
Natural variant871I → V.
Corresponds to variant rs2942194 [ dbSNP | Ensembl ].
VAR_043144
Natural variant961R → Q. Ref.4
Corresponds to variant rs3736032 [ dbSNP | Ensembl ].
VAR_043145

Sequences

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

Last modified May 20, 2008. Version 2.
Checksum: 14576DF1F1854FAA

FASTA33837,323
        10         20         30         40         50         60 
MELRSGSVGS QAVARRMDGD SRDGGGGKDA TGSEDYENLP TSASVSTHMT AGAMAGILEH 

        70         80         90        100        110        120 
SVMYPVDSVK TRMQSLSPDP KAQYTSIYGA LKKIMRTEGF WRPLRGVNVM IMGAGPAHAM 

       130        140        150        160        170        180 
YFACYENMKR TLNDVFHHQG NSHLANGIAG SMATLLHDAV MNPAEVVKQR LQMYNSQHRS 

       190        200        210        220        230        240 
AISCIRTVWR TEGLGAFYRS YTTQLTMNIP FQSIHFITYE FLQEQVNPHR TYNPQSHIIS 

       250        260        270        280        290        300 
GGLAGALAAA ATTPLDVCKT LLNTQENVAL SLANISGRLS GMANAFRTVY QLNGLAGYFK 

       310        320        330 
GIQARVIYQM PSTAISWSVY EFFKYFLTKR QLENRAPY 

« Hide

Isoform 2 [UniParc].

Checksum: 8ACB98A483C8E6EF
Show »

FASTA15516,832
Isoform 4 [UniParc].

Checksum: 26F760526F7DE21B
Show »

FASTA18721,125

References

« Hide 'large scale' references
[1]"Rapid decrease of RNA level of a novel mouse mitochondria solute carrier protein (Mscp) gene at 4-5 weeks of age."
Li Q.-Z., Eckenrode S., Ruan Q.-G., Wang C.-Y., Shi J.-D., McIndoe R.A., She J.-X.
Mamm. Genome 12:830-836(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
[2]"Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning."
Hu R.-M., Han Z.-G., Song H.-D., Peng Y.-D., Huang Q.-H., Ren S.-X., Gu Y.-J., Huang C.-H., Li Y.-B., Jiang C.-L., Fu G., Zhang Q.-H., Gu B.-W., Dai M., Mao Y.-F., Gao G.-F., Rong R., Ye M. expand/collapse author list , Zhou J., Xu S.-H., Gu J., Shi J.-X., Jin W.-R., Zhang C.-K., Wu T.-M., Huang G.-Y., Chen Z., Chen M.-D., Chen J.-L.
Proc. Natl. Acad. Sci. U.S.A. 97:9543-9548(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
Tissue: Adrenal gland.
[3]"A novel gene expressed in human hypothalamus."
Song H., Gao G., Peng Y., Ren S., Chen Z., Han Z.
Submitted (JAN-2000) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Hypothalamus.
[4]Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.
Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT GLN-96.
Tissue: Pancreas.
[5]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"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] (ISOFORMS 1 AND 2).
Tissue: Brain and Uterus.
[7]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 18-338 (ISOFORM 2).
Tissue: Lymph node.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY032628 mRNA. Translation: AAK38154.1.
AF155660 mRNA. Translation: AAF67479.1.
AF223466 mRNA. Translation: AAF64141.1. Frameshift.
AK223194 mRNA. Translation: BAD96914.1.
CH471080 Genomic DNA. Translation: EAW63617.1.
BC132799 mRNA. Translation: AAI32800.1.
BC132801 mRNA. Translation: AAI32802.1.
BC015013 mRNA. Translation: AAH15013.1.
AL833186 mRNA. Translation: CAH10415.1. Sequence problems.
RefSeqNP_057696.2. NM_016612.2.
XP_005273583.1. XM_005273526.2.
UniGeneHs.596025.
Hs.658208.
Hs.726050.

3D structure databases

ProteinModelPortalQ9NYZ2.
SMRQ9NYZ2. Positions 43-332.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid119463. 1 interaction.
STRING9606.ENSP00000290075.

Protein family/group databases

TCDB2.A.29.5.7. the mitochondrial carrier (mc) family.

PTM databases

PhosphoSiteQ9NYZ2.

Polymorphism databases

DMDM189047115.

Proteomic databases

PaxDbQ9NYZ2.
PRIDEQ9NYZ2.

Protocols and materials databases

DNASU51312.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000290075; ENSP00000290075; ENSG00000147454. [Q9NYZ2-2]
ENST00000519973; ENSP00000429200; ENSG00000147454. [Q9NYZ2-1]
GeneID51312.
KEGGhsa:51312.
UCSCuc003xdn.1. human. [Q9NYZ2-2]
uc003xdo.3. human. [Q9NYZ2-1]

Organism-specific databases

CTD51312.
GeneCardsGC08P023386.
H-InvDBHIX0007389.
HGNCHGNC:29786. SLC25A37.
HPAHPA045680.
MIM610387. gene.
neXtProtNX_Q9NYZ2.
PharmGKBPA142670909.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG261622.
HOGENOMHOG000171727.
HOVERGENHBG079464.
InParanoidQ9NYZ2.
KOK15113.
OMAMDGDSRD.
OrthoDBEOG77DJ7B.
PhylomeDBQ9NYZ2.
TreeFamTF314118.

Enzyme and pathway databases

ReactomeREACT_111217. Metabolism.

Gene expression databases

ArrayExpressQ9NYZ2.
BgeeQ9NYZ2.
CleanExHS_SLC25A37.
GenevestigatorQ9NYZ2.

Family and domain databases

Gene3D1.50.40.10. 1 hit.
InterProIPR018108. Mitochondrial_sb/sol_carrier.
IPR023395. Mt_carrier_dom.
[Graphical view]
PfamPF00153. Mito_carr. 3 hits.
[Graphical view]
SUPFAMSSF103506. SSF103506. 1 hit.
PROSITEPS50920. SOLCAR. 3 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSSLC25A37. human.
GeneWikiSLC25A37.
GenomeRNAi51312.
NextBio54651.
PROQ9NYZ2.
SOURCESearch...

Entry information

Entry nameMFRN1_HUMAN
AccessionPrimary (citable) accession number: Q9NYZ2
Secondary accession number(s): A2RU93 expand/collapse secondary AC list , Q53FT7, Q69YJ8, Q969S1, Q9P0J2
Entry history
Integrated into UniProtKB/Swiss-Prot: May 16, 2006
Last sequence update: May 20, 2008
Last modified: April 16, 2014
This is version 102 of the entry and version 2 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 polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 8

Human chromosome 8: entries, gene names and cross-references to MIM