|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
9213
|
|
Gene name
Gene Name - the full gene name approved by the HGNC.
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Xenotropic and polytropic retrovirus receptor 1 |
|
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
XPR1 |
|
Synonyms (NCBI Gene)
Gene synonyms aliases
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IBGC6, SLC53A1, SYG1, X3 |
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Chromosome
Chromosome number
|
1 |
|
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
1q25.3 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
|
The protein encoded by this gene is a receptor for the xenotropic and polytropic classes of murine leukemia viruses. The encoded protein is involved in phosphate homeostasis by mediating phosphate export from the cell. Defects in this gene have been assoc |
| UniProt ID |
Q9UBH6
|
| Protein name |
Solute carrier family 53 member 1 (Phosphate exporter SLC53A1) (Protein SYG1 homolog) (Xenotropic and polytropic murine leukemia virus receptor X3) (X-receptor) (Xenotropic and polytropic retrovirus receptor 1) |
| Protein function |
Inorganic ion transporter that mediates phosphate ion export across plasma membrane (PubMed:23791524, PubMed:25938945, PubMed:27080106, PubMed:31043717, PubMed:39169184, PubMed:39325866, PubMed:39747008, PubMed:39814721). Plays a major role in p |
| PDB |
5IJH
,
8TYU
,
8TYV
,
8X5B
,
8X5E
,
8X5F
,
8YET
,
8YEX
,
8YF4
,
8YFD
,
8YFU
,
8YFW
,
8YFX
,
9IJY
,
9IJZ
,
9IWS
,
9J4X
,
9J51
,
9J52
,
9J53
,
9J97
,
9J98
|
| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
|
PF03105
|
SPX |
1 → 50 |
SPX domain |
Domain |
|
PF03105
|
SPX |
34 → 102 |
SPX domain |
Domain |
|
PF03105
|
SPX |
93 → 172 |
SPX domain |
Domain |
|
PF03124
|
EXS |
268 → 617 |
EXS family |
Family |
|
| Tissue specificity |
TISSUE SPECIFICITY: Widely expressed. Detected in spleen, lymph node, thymus, leukocytes, bone marrow, heart, kidney, pancreas and skeletal muscle. {ECO:0000269|PubMed:9927670, ECO:0000269|PubMed:9990033}. |
| Sequence |
|
| Sequence length |
696 |
| Interactions |
View interactions
|
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Causal
Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
|
| Disease merge term |
Disease name |
dbSNP ID |
References |
| Basal ganglia calcification |
basal ganglia calcification, idiopathic, 6 |
rs786205901, rs786205902, rs786205903, rs786205904 |
N/A |
|
|
Unknown
Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
|
| Disease merge term |
Disease name |
Evidence |
References |
Source |
| Asthma |
Asthma (childhood onset) |
N/A |
N/A |
GWAS |
| Bilateral Striopallidodentate Calcinosis |
bilateral striopallidodentate calcinosis |
N/A |
N/A |
GenCC |
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