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SLC48A1 solute carrier family 48 member 1 [ Homo sapiens (human) ]

Gene ID: 55652, updated on 17-Jun-2019

Summary

Official Symbol
SLC48A1provided by HGNC
Official Full Name
solute carrier family 48 member 1provided by HGNC
Primary source
HGNC:HGNC:26035
See related
Ensembl:ENSG00000211584 MIM:612187
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HRG1; HRG-1; hHRG-1
Expression
Ubiquitous expression in brain (RPKM 18.5), thyroid (RPKM 14.7) and 25 other tissues See more
Orthologs

Genomic context

See SLC48A1 in Genome Data Viewer
Location:
12q13.11
Exon count:
11
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (47753619..47782753)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (48152426..48176536)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene RNA polymerase II associated protein 3 Neighboring gene Sharpr-MPRA regulatory region 11797 Neighboring gene uncharacterized LOC105369748 Neighboring gene endonuclease, poly(U) specific Neighboring gene Rap guanine nucleotide exchange factor 3 Neighboring gene histone deacetylase 7 Neighboring gene long intergenic non-protein coding RNA 2354 Neighboring gene vitamin D receptor

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ20489

Gene Ontology Provided by GOA

Function Evidence Code Pubs
heme binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
heme binding IDA
Inferred from Direct Assay
more info
PubMed 
heme transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
heme transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
heme transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
heme transport IDA
Inferred from Direct Assay
more info
PubMed 
heme transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
endosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
lysosomal membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lysosomal membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
heme transporter HRG1
Names
heme-responsive gene 1 protein homolog
solute carrier family 48 (heme transporter), member 1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_017842.3NP_060312.2  heme transporter HRG1

    See identical proteins and their annotated locations for NP_060312.2

    Status: VALIDATED

    Source sequence(s)
    AC004466, BC026344
    Consensus CDS
    CCDS8755.2
    UniProtKB/Swiss-Prot
    Q6P1K1
    Related
    ENSP00000415998.2, ENST00000442218.3
    Conserved Domains (1) summary
    pfam16954
    Location:71122
    HRG; Haem-transporter, endosomal/lysosomal, haem-responsive gene

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    47753619..47782753
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024449045.1XP_024304813.1  heme transporter HRG1 isoform X2

    Conserved Domains (1) summary
    pfam16954
    Location:109160
    HRG; Haem-transporter, endosomal/lysosomal, haem-responsive gene
  2. XM_024449046.1XP_024304814.1  heme transporter HRG1 isoform X2

    Conserved Domains (1) summary
    pfam16954
    Location:109160
    HRG; Haem-transporter, endosomal/lysosomal, haem-responsive gene
  3. XM_017019614.2XP_016875103.1  heme transporter HRG1 isoform X1

    UniProtKB/Swiss-Prot
    Q6P1K1
  4. XM_005269016.4XP_005269073.1  heme transporter HRG1 isoform X3

    Conserved Domains (1) summary
    pfam16954
    Location:98149
    HRG; Haem-transporter, endosomal/lysosomal, haem-responsive gene
  5. XM_017019612.1XP_016875101.1  heme transporter HRG1 isoform X1

    UniProtKB/Swiss-Prot
    Q6P1K1
  6. XM_017019617.2XP_016875106.1  heme transporter HRG1 isoform X4

    UniProtKB/Swiss-Prot
    Q6P1K1
    Conserved Domains (1) summary
    pfam16954
    Location:71122
    HRG; Haem-transporter, endosomal/lysosomal, haem-responsive gene
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