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Protein

Heme transporter HRG1

Gene

SLC48A1

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

GO - Biological processi

  • heme transport Source: MGI
Complete GO annotation...

Keywords - Biological processi

Transport

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)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei12 – 3221HelicalSequence analysisAdd
BLAST
Transmembranei40 – 6021HelicalSequence analysisAdd
BLAST
Transmembranei74 – 9421HelicalSequence analysisAdd
BLAST
Transmembranei110 – 13021HelicalSequence analysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Endosome, Lysosome, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA164725837.

Polymorphism and mutation databases

BioMutaiSLC48A1.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 146146Heme transporter HRG1PRO_0000348575Add
BLAST

Proteomic databases

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

PTM databases

PhosphoSiteiQ6P1K1.

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

BgeeiQ6P1K1.
ExpressionAtlasiQ6P1K1. baseline and differential.
GenevisibleiQ6P1K1. HS.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
MEOX2A4D1273EBI-1222191,EBI-10172134

Protein-protein interaction databases

BioGridi120784. 5 interactions.
IntActiQ6P1K1. 2 interactions.
STRINGi9606.ENSP00000415998.

Structurei

3D structure databases

ProteinModelPortaliQ6P1K1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi142 – 1432Di-leucine motif

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.
PhylomeDBiQ6P1K1.
TreeFamiTF332621.

Family and domain databases

InterProiIPR026218. HRG.
[Graphical view]
PfamiPF16954. HRG. 2 hits.
[Graphical view]
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 AAH26344.2 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.Curated
The sequence BAA91205.1 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.Curated
The sequence EAW57951.1 differs from that shown. Reason: Erroneous gene model prediction. Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 5757Missing in isoform 2. 1 PublicationVSP_035184Add
BLAST

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]
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

Cross-referencesi

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]
UniGeneiHs.438867.

3D structure databases

ProteinModelPortaliQ6P1K1.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120784. 5 interactions.
IntActiQ6P1K1. 2 interactions.
STRINGi9606.ENSP00000415998.

Protein family/group databases

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

PTM databases

PhosphoSiteiQ6P1K1.

Polymorphism and mutation databases

BioMutaiSLC48A1.

Proteomic databases

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

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi55652.
GeneCardsiSLC48A1.
HGNCiHGNC:26035. SLC48A1.
MIMi612187. gene.
neXtProtiNX_Q6P1K1.
PharmGKBiPA164725837.
GenAtlasiSearch...

Phylogenomic databases

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

Miscellaneous databases

ChiTaRSiSLC48A1. human.
GenomeRNAii55652.
PROiQ6P1K1.
SOURCEiSearch...

Gene expression databases

BgeeiQ6P1K1.
ExpressionAtlasiQ6P1K1. baseline and differential.
GenevisibleiQ6P1K1. HS.

Family and domain databases

InterProiIPR026218. HRG.
[Graphical view]
PfamiPF16954. HRG. 2 hits.
[Graphical view]
PRINTSiPR02095. TRNSPORTRHRG.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Signet-ring cell carcinoma.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "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 Skin.
  4. "Haem homeostasis is regulated by the conserved and concerted functions of HRG-1 proteins."
    Rajagopal A., Rao A.U., Amigo J., Tian M., Upadhyay S.K., Hall C., Uhm S., Mathew M.K., Fleming M.D., Paw B.H., Krause M., Hamza I.
    Nature 453:1127-1131(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION, HEME-BINDING, TISSUE SPECIFICITY.

Entry informationi

Entry nameiHRG1_HUMAN
AccessioniPrimary (citable) accession number: Q6P1K1
Secondary accession number(s): Q9BUB3, Q9NX17
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 2, 2008
Last sequence update: July 5, 2004
Last modified: June 8, 2016
This is version 85 of the entry and version 1 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 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

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.