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Protein

Heme transporter HRG1

Gene

SLC48A1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Heme transporter that regulates intracellular heme availability through the endosomal or lysosomal compartment.1 Publication

GO - Molecular functioni

  • heme binding Source: WormBase
  • heme transporter activity Source: WormBase

GO - Biological processi

  • heme transport Source: WormBase

Keywordsi

Biological processTransport

Protein family/group databases

TCDBi2.A.110.1.1. the heme transporter, heme-responsive gene protein (hrg) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Heme transporter HRG1
Alternative name(s):
Heme-responsive gene 1 protein homolog
Short name:
HRG-1
Short name:
hHRG-1
Solute carrier family 48 member 1
Gene namesi
Name:SLC48A1
Synonyms:HRG1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:26035. SLC48A1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei12 – 32HelicalSequence analysisAdd BLAST21
Transmembranei40 – 60HelicalSequence analysisAdd BLAST21
Transmembranei74 – 94HelicalSequence analysisAdd BLAST21
Transmembranei110 – 130HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

  • endosome membrane Source: WormBase
  • integral component of membrane Source: UniProtKB-KW
  • lysosomal membrane Source: WormBase
  • plasma membrane Source: WormBase

Keywords - Cellular componenti

Endosome, Lysosome, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi55652.
OpenTargetsiENSG00000211584.
PharmGKBiPA164725837.

Polymorphism and mutation databases

BioMutaiSLC48A1.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003485751 – 146Heme transporter HRG1Add BLAST146

Proteomic databases

PaxDbiQ6P1K1.
PeptideAtlasiQ6P1K1.
PRIDEiQ6P1K1.
TopDownProteomicsiQ6P1K1-1. [Q6P1K1-1]

PTM databases

PhosphoSitePlusiQ6P1K1.

Expressioni

Tissue specificityi

Highly expressed in the brain, kidney, heart and skeletal muscle. Moderately expressed in the liver, lung, placenta and small intestine.1 Publication

Gene expression databases

BgeeiENSG00000211584.
ExpressionAtlasiQ6P1K1. baseline and differential.
GenevisibleiQ6P1K1. HS.

Organism-specific databases

HPAiHPA073994.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
MEOX2P502223EBI-1222191,EBI-748397

Protein-protein interaction databases

BioGridi120784. 5 interactors.
IntActiQ6P1K1. 3 interactors.

Structurei

3D structure databases

ProteinModelPortaliQ6P1K1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi142 – 143Di-leucine motif2

Sequence similaritiesi

Belongs to the HRG family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410J2XM. Eukaryota.
ENOG4111YMM. LUCA.
GeneTreeiENSGT00390000002307.
HOGENOMiHOG000069906.
HOVERGENiHBG059709.
InParanoidiQ6P1K1.
KOiK15380.
OMAiRQEFADI.
OrthoDBiEOG091G0NVJ.
PhylomeDBiQ6P1K1.
TreeFamiTF332621.

Family and domain databases

InterProiView protein in InterPro
IPR026218. HRG.
PANTHERiPTHR31525. PTHR31525. 1 hit.
PfamiView protein in Pfam
PF16954. HRG. 2 hits.
PRINTSiPR02095. TRNSPORTRHRG.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q6P1K1-1) [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
MAPSRLQLGL RAAYSGISSV AGFSIFLVWT VVYRQPGTAA MGGLAGVLAL
60 70 80 90 100
WVLVTHVMYM QDYWRTWLKG LRGFFFVGVL FSAVSIAAFC TFLVLAITRH
110 120 130 140
QSLTDPTSYY LSSVWSFISF KWAFLLSLYA HRYRADFADI SILSDF
Length:146
Mass (Da):16,419
Last modified:July 5, 2004 - v1
Checksum:iEFA5D75C637713DF
GO
Isoform 2 (identifier: Q6P1K1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-57: Missing.

Show »
Length:89
Mass (Da):10,476
Checksum:i85BE8381BF51D11F
GO

Sequence cautioni

The sequence AAH26344 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.Curated
The sequence BAA91205 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.Curated
The sequence EAW57951 differs from that shown. Reason: Erroneous gene model prediction.Curated

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0351841 – 57Missing in isoform 2. 1 PublicationAdd BLAST57

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK000496 mRNA. Translation: BAA91205.1. Sequence problems.
CH471111 Genomic DNA. Translation: EAW57951.1. Sequence problems.
BC002759 mRNA. Translation: AAH02759.2.
BC026344 mRNA. Translation: AAH26344.2. Sequence problems.
BC065033 mRNA. Translation: AAH65033.1.
CCDSiCCDS8755.2. [Q6P1K1-1]
RefSeqiNP_060312.2. NM_017842.2. [Q6P1K1-1]
XP_016875101.1. XM_017019612.1.
XP_016875102.1. XM_017019613.1.
XP_016875103.1. XM_017019614.1.
XP_016875104.1. XM_017019615.1.
XP_016875105.1. XM_017019616.1.
XP_016875106.1. XM_017019617.1. [Q6P1K1-1]
UniGeneiHs.438867.

Genome annotation databases

EnsembliENST00000442218; ENSP00000415998; ENSG00000211584. [Q6P1K1-1]
ENST00000442892; ENSP00000410134; ENSG00000211584. [Q6P1K1-2]
ENST00000547002; ENSP00000446739; ENSG00000211584. [Q6P1K1-2]
GeneIDi55652.
KEGGihsa:55652.
UCSCiuc001rqc.4. human. [Q6P1K1-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiHRG1_HUMAN
AccessioniPrimary (citable) accession number: Q6P1K1
Secondary accession number(s): Q9BUB3, Q9NX17
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 2, 2008
Last sequence update: July 5, 2004
Last modified: August 30, 2017
This is version 95 of the entry and version 1 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 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families