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Protein

Mitoferrin-1

Gene

SLC25A37

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at transcript leveli

Functioni

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).By similarity

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processIon transport, Iron transport, Transport
LigandIron

Enzyme and pathway databases

ReactomeiR-HSA-1362409 Mitochondrial iron-sulfur cluster biogenesis

Protein family/group databases

TCDBi2.A.29.5.7 the mitochondrial carrier (mc) family

Names & Taxonomyi

Protein namesi
Recommended name:
Mitoferrin-1
Alternative name(s):
Mitochondrial iron transporter 1
Mitochondrial solute carrier protein
Solute carrier family 25 member 37
Gene namesi
Name:SLC25A37
Synonyms:MFRN, MSCP
ORF Names:HT015
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

EuPathDBiHostDB:ENSG00000147454.13
HGNCiHGNC:29786 SLC25A37
MIMi610387 gene
neXtProtiNX_Q9NYZ2

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei45 – 64Helical; Name=1Sequence analysisAdd BLAST20
Transmembranei106 – 125Helical; Name=2Sequence analysisAdd BLAST20
Transmembranei143 – 162Helical; Name=3Sequence analysisAdd BLAST20
Transmembranei200 – 219Helical; Name=4Sequence analysisAdd BLAST20
Transmembranei234 – 253Helical; Name=5Sequence analysisAdd BLAST20
Transmembranei301 – 320Helical; Name=6Sequence analysisAdd BLAST20

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi51312
OpenTargetsiENSG00000147454
PharmGKBiPA142670909

Polymorphism and mutation databases

BioMutaiSLC25A37
DMDMi189047115

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002352511 – 338Mitoferrin-1Add BLAST338

Proteomic databases

EPDiQ9NYZ2
MaxQBiQ9NYZ2
PaxDbiQ9NYZ2
PeptideAtlasiQ9NYZ2
PRIDEiQ9NYZ2
ProteomicsDBi83303
83304 [Q9NYZ2-2]
83305 [Q9NYZ2-4]

PTM databases

iPTMnetiQ9NYZ2
PhosphoSitePlusiQ9NYZ2

Expressioni

Gene expression databases

BgeeiENSG00000147454
CleanExiHS_SLC25A37
ExpressionAtlasiQ9NYZ2 baseline and differential
GenevisibleiQ9NYZ2 HS

Organism-specific databases

HPAiHPA045680

Interactioni

Protein-protein interaction databases

BioGridi119463, 2 interactors
IntActiQ9NYZ2, 1 interactor
STRINGi9606.ENSP00000429200

Structurei

3D structure databases

ProteinModelPortaliQ9NYZ2
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati43 – 131Solcar 1Add BLAST89
Repeati141 – 225Solcar 2Add BLAST85
Repeati232 – 326Solcar 3Add BLAST95

Sequence similaritiesi

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0760 Eukaryota
ENOG410XNT2 LUCA
GeneTreeiENSGT00550000074721
HOGENOMiHOG000171727
HOVERGENiHBG079464
InParanoidiQ9NYZ2
KOiK15113
OMAiYFLTKHK
OrthoDBiEOG091G0PU8
PhylomeDBiQ9NYZ2
TreeFamiTF314118

Family and domain databases

Gene3Di1.50.40.10, 2 hits
InterProiView protein in InterPro
IPR018108 Mitochondrial_sb/sol_carrier
IPR023395 Mt_carrier_dom_sf
PfamiView protein in Pfam
PF00153 Mito_carr, 3 hits
SUPFAMiSSF103506 SSF103506, 1 hit
PROSITEiView protein in PROSITE
PS50920 SOLCAR, 3 hits

Sequences (3)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q9NYZ2-1) [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
MELRSGSVGS QAVARRMDGD SRDGGGGKDA TGSEDYENLP TSASVSTHMT
60 70 80 90 100
AGAMAGILEH SVMYPVDSVK TRMQSLSPDP KAQYTSIYGA LKKIMRTEGF
110 120 130 140 150
WRPLRGVNVM IMGAGPAHAM YFACYENMKR TLNDVFHHQG NSHLANGIAG
160 170 180 190 200
SMATLLHDAV MNPAEVVKQR LQMYNSQHRS AISCIRTVWR TEGLGAFYRS
210 220 230 240 250
YTTQLTMNIP FQSIHFITYE FLQEQVNPHR TYNPQSHIIS GGLAGALAAA
260 270 280 290 300
ATTPLDVCKT LLNTQENVAL SLANISGRLS GMANAFRTVY QLNGLAGYFK
310 320 330
GIQARVIYQM PSTAISWSVY EFFKYFLTKR QLENRAPY
Length:338
Mass (Da):37,323
Last modified:May 20, 2008 - v2
Checksum:i14576DF1F1854FAA
GO
Isoform 2 (identifier: Q9NYZ2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     149-155: AGSMATL → LKAFVWS
     156-338: Missing.

Show »
Length:155
Mass (Da):16,832
Checksum:i8ACB98A483C8E6EF
GO
Isoform 4 (identifier: Q9NYZ2-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-151: Missing.

Note: No experimental confirmation available.
Show »
Length:187
Mass (Da):21,125
Checksum:i26F760526F7DE21B
GO

Sequence cautioni

The sequence AAF64141 differs from that shown. Reason: Frameshift at position 296.Curated
The sequence CAH10415 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04314487I → V. Corresponds to variant dbSNP:rs2942194Ensembl.1
Natural variantiVAR_04314596R → Q1 PublicationCorresponds to variant dbSNP:rs3736032Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0184001 – 151Missing in isoform 4. 1 PublicationAdd BLAST151
Alternative sequenceiVSP_018402149 – 155AGSMATL → LKAFVWS in isoform 2. 4 Publications7
Alternative sequenceiVSP_018403156 – 338Missing in isoform 2. 4 PublicationsAdd BLAST183

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS47828.1 [Q9NYZ2-1]
RefSeqiNP_001304741.1, NM_001317812.1 [Q9NYZ2-4]
NP_001304742.1, NM_001317813.1
NP_001304743.1, NM_001317814.1
NP_057696.2, NM_016612.3 [Q9NYZ2-1]
XP_011542856.1, XM_011544554.2 [Q9NYZ2-4]
UniGeneiHs.596025
Hs.658208
Hs.726050

Genome annotation databases

EnsembliENST00000290075; ENSP00000290075; ENSG00000147454 [Q9NYZ2-2]
ENST00000519973; ENSP00000429200; ENSG00000147454 [Q9NYZ2-1]
GeneIDi51312
KEGGihsa:51312
UCSCiuc003xds.4 human [Q9NYZ2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiMFRN1_HUMAN
AccessioniPrimary (citable) accession number: Q9NYZ2
Secondary accession number(s): A2RU93
, Q53FT7, Q69YJ8, Q969S1, Q9P0J2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 16, 2006
Last sequence update: May 20, 2008
Last modified: July 18, 2018
This is version 134 of the entry and version 2 of the sequence. See 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 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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