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Protein

Mitoferrin-1

Gene

SLC25A37

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-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

Complete GO annotation...

Keywords - Biological processi

Ion transport, Iron transport, Transport

Keywords - Ligandi

Iron

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

HGNCiHGNC:29786. SLC25A37.

Subcellular locationi

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

GO - Cellular componenti

Complete GO annotation...

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

MaxQBiQ9NYZ2.
PaxDbiQ9NYZ2.
PeptideAtlasiQ9NYZ2.
PRIDEiQ9NYZ2.

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. 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

Contains 3 Solcar repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

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

Family and domain databases

Gene3Di1.50.40.10. 1 hit.
InterProiIPR018108. Mitochondrial_sb/sol_carrier.
IPR023395. Mt_carrier_dom.
[Graphical view]
PfamiPF00153. Mito_carr. 3 hits.
[Graphical view]
SUPFAMiSSF103506. SSF103506. 1 hit.
PROSITEiPS50920. SOLCAR. 3 hits.
[Graphical view]

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 rs2942194dbSNPEnsembl.1
Natural variantiVAR_04314596R → Q.1 PublicationCorresponds to variant rs3736032dbSNPEnsembl.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

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ9NYZ2.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119463. 1 interactor.
STRINGi9606.ENSP00000429200.

Protein family/group databases

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

PTM databases

iPTMnetiQ9NYZ2.
PhosphoSitePlusiQ9NYZ2.

Polymorphism and mutation databases

BioMutaiSLC25A37.
DMDMi189047115.

Proteomic databases

MaxQBiQ9NYZ2.
PaxDbiQ9NYZ2.
PeptideAtlasiQ9NYZ2.
PRIDEiQ9NYZ2.

Protocols and materials databases

DNASUi51312.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi51312.
DisGeNETi51312.
GeneCardsiSLC25A37.
H-InvDBHIX0007389.
HGNCiHGNC:29786. SLC25A37.
HPAiHPA045680.
MIMi610387. gene.
neXtProtiNX_Q9NYZ2.
OpenTargetsiENSG00000147454.
PharmGKBiPA142670909.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

ReactomeiR-HSA-1362409. Mitochondrial iron-sulfur cluster biogenesis.

Miscellaneous databases

ChiTaRSiSLC25A37. human.
GeneWikiiSLC25A37.
GenomeRNAii51312.
PROiQ9NYZ2.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000147454.
CleanExiHS_SLC25A37.
ExpressionAtlasiQ9NYZ2. baseline and differential.
GenevisibleiQ9NYZ2. HS.

Family and domain databases

Gene3Di1.50.40.10. 1 hit.
InterProiIPR018108. Mitochondrial_sb/sol_carrier.
IPR023395. Mt_carrier_dom.
[Graphical view]
PfamiPF00153. Mito_carr. 3 hits.
[Graphical view]
SUPFAMiSSF103506. SSF103506. 1 hit.
PROSITEiPS50920. SOLCAR. 3 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiMFRN1_HUMAN
AccessioniPrimary (citable) accession number: Q9NYZ2
Secondary accession number(s): A2RU93
, Q53FT7, Q69YJ8, Q969S1, Q9P0J2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 16, 2006
Last sequence update: May 20, 2008
Last modified: November 30, 2016
This is version 123 of the entry and version 2 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 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

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 one 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.