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Q9NYZ2

- MFRN1_HUMAN

UniProt

Q9NYZ2 - MFRN1_HUMAN

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Protein

Mitoferrin-1

Gene

SLC25A37

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. iron ion transmembrane transporter activity Source: Ensembl

GO - Biological processi

  1. iron ion homeostasis Source: UniProtKB-KW
  2. mitochondrial iron ion transport Source: Ensembl
  3. small molecule metabolic process Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Ion transport, Iron transport, Transport

Keywords - Ligandi

Iron

Enzyme and pathway databases

ReactomeiREACT_150353. 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
ProteomesiUP000005640: Chromosome 8

Organism-specific databases

HGNCiHGNC:29786. SLC25A37.

Subcellular locationi

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
  2. mitochondrial inner membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142670909.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 338338Mitoferrin-1PRO_0000235251Add
BLAST

Proteomic databases

MaxQBiQ9NYZ2.
PaxDbiQ9NYZ2.
PRIDEiQ9NYZ2.

PTM databases

PhosphoSiteiQ9NYZ2.

Expressioni

Gene expression databases

BgeeiQ9NYZ2.
CleanExiHS_SLC25A37.
ExpressionAtlasiQ9NYZ2. baseline and differential.
GenevestigatoriQ9NYZ2.

Organism-specific databases

HPAiHPA045680.

Interactioni

Protein-protein interaction databases

BioGridi119463. 1 interaction.
STRINGi9606.ENSP00000290075.

Structurei

3D structure databases

ProteinModelPortaliQ9NYZ2.
SMRiQ9NYZ2. Positions 43-332.
ModBaseiSearch...
MobiDBiSearch...

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei45 – 6420Helical; Name=1Sequence AnalysisAdd
BLAST
Transmembranei106 – 12520Helical; Name=2Sequence AnalysisAdd
BLAST
Transmembranei143 – 16220Helical; Name=3Sequence AnalysisAdd
BLAST
Transmembranei200 – 21920Helical; Name=4Sequence AnalysisAdd
BLAST
Transmembranei234 – 25320Helical; Name=5Sequence AnalysisAdd
BLAST
Transmembranei301 – 32020Helical; Name=6Sequence AnalysisAdd
BLAST

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati43 – 13189Solcar 1Add
BLAST
Repeati141 – 22585Solcar 2Add
BLAST
Repeati232 – 32695Solcar 3Add
BLAST

Sequence similaritiesi

Contains 3 Solcar repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG261622.
GeneTreeiENSGT00550000074721.
HOGENOMiHOG000171727.
HOVERGENiHBG079464.
InParanoidiQ9NYZ2.
KOiK15113.
OMAiFKGIQAR.
OrthoDBiEOG77DJ7B.
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. Align

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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti87 – 871I → V.
Corresponds to variant rs2942194 [ dbSNP | Ensembl ].
VAR_043144
Natural varianti96 – 961R → Q.1 Publication
Corresponds to variant rs3736032 [ dbSNP | Ensembl ].
VAR_043145

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 151151Missing in isoform 4. 1 PublicationVSP_018400Add
BLAST
Alternative sequencei149 – 1557AGSMATL → LKAFVWS in isoform 2. 4 PublicationsVSP_018402
Alternative sequencei156 – 338183Missing in isoform 2. 4 PublicationsVSP_018403Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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_057696.2. NM_016612.2. [Q9NYZ2-1]
XP_005273583.1. XM_005273526.2. [Q9NYZ2-4]
UniGeneiHs.596025.
Hs.658208.
Hs.726050.

Genome annotation databases

EnsembliENST00000290075; ENSP00000290075; ENSG00000147454. [Q9NYZ2-2]
ENST00000519973; ENSP00000429200; ENSG00000147454. [Q9NYZ2-1]
GeneIDi51312.
KEGGihsa:51312.
UCSCiuc003xdn.1. human. [Q9NYZ2-2]
uc003xdo.3. human. [Q9NYZ2-1]

Polymorphism databases

DMDMi189047115.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
CCDSi CCDS47828.1. [Q9NYZ2-1 ]
RefSeqi NP_057696.2. NM_016612.2. [Q9NYZ2-1 ]
XP_005273583.1. XM_005273526.2. [Q9NYZ2-4 ]
UniGenei Hs.596025.
Hs.658208.
Hs.726050.

3D structure databases

ProteinModelPortali Q9NYZ2.
SMRi Q9NYZ2. Positions 43-332.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 119463. 1 interaction.
STRINGi 9606.ENSP00000290075.

Protein family/group databases

TCDBi 2.A.29.5.7. the mitochondrial carrier (mc) family.

PTM databases

PhosphoSitei Q9NYZ2.

Polymorphism databases

DMDMi 189047115.

Proteomic databases

MaxQBi Q9NYZ2.
PaxDbi Q9NYZ2.
PRIDEi Q9NYZ2.

Protocols and materials databases

DNASUi 51312.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000290075 ; ENSP00000290075 ; ENSG00000147454 . [Q9NYZ2-2 ]
ENST00000519973 ; ENSP00000429200 ; ENSG00000147454 . [Q9NYZ2-1 ]
GeneIDi 51312.
KEGGi hsa:51312.
UCSCi uc003xdn.1. human. [Q9NYZ2-2 ]
uc003xdo.3. human. [Q9NYZ2-1 ]

Organism-specific databases

CTDi 51312.
GeneCardsi GC08P023386.
H-InvDB HIX0007389.
HGNCi HGNC:29786. SLC25A37.
HPAi HPA045680.
MIMi 610387. gene.
neXtProti NX_Q9NYZ2.
PharmGKBi PA142670909.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG261622.
GeneTreei ENSGT00550000074721.
HOGENOMi HOG000171727.
HOVERGENi HBG079464.
InParanoidi Q9NYZ2.
KOi K15113.
OMAi FKGIQAR.
OrthoDBi EOG77DJ7B.
PhylomeDBi Q9NYZ2.
TreeFami TF314118.

Enzyme and pathway databases

Reactomei REACT_150353. Mitochondrial iron-sulfur cluster biogenesis.

Miscellaneous databases

ChiTaRSi SLC25A37. human.
GeneWikii SLC25A37.
GenomeRNAii 51312.
NextBioi 54651.
PROi Q9NYZ2.
SOURCEi Search...

Gene expression databases

Bgeei Q9NYZ2.
CleanExi HS_SLC25A37.
ExpressionAtlasi Q9NYZ2. baseline and differential.
Genevestigatori Q9NYZ2.

Family and domain databases

Gene3Di 1.50.40.10. 1 hit.
InterProi IPR018108. Mitochondrial_sb/sol_carrier.
IPR023395. Mt_carrier_dom.
[Graphical view ]
Pfami PF00153. Mito_carr. 3 hits.
[Graphical view ]
SUPFAMi SSF103506. SSF103506. 1 hit.
PROSITEi PS50920. SOLCAR. 3 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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. 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. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 18-338 (ISOFORM 2).
    Tissue: Lymph node.

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: October 29, 2014
This is version 107 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

External Data

Dasty 3