SLC29A3 - solute carrier family 29 member 3 Gene

Also Known as ENT3; HJCD; PHID; HCLAP

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 55315

About SLC29A3

Cytogenetic location: 10q22.1 Genomic coordinates (GRCh38): 10:71,319,259-71,381,423 (from NCBI)

This gene has 14 transcripts (splice variants), 199 orthologues, 3 paralogues and is associated with 3 phenotypes. Ubiquitous expression in placenta (RPKM 7.5), urinary bladder (RPKM 5.5) and 25 other tissues.

Summary

This gene encodes a nucleoside transporter. The encoded protein plays a role in cellular uptake of nucleosides, nucleobases, and their related analogs. Mutations in this gene have been associated with H syndrome, which is characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism. A related disorder, PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus), has also been associated with mutations at this locus. Alternatively spliced transcript variants have been described.[provided by RefSeq, Mar 2010]

SLC29A3 Products (3)

mRNA Protein Name
NM_001174098.2 NP_001167569.1 equilibrative nucleoside transporter 3 isoform b
NM_001363518.2 NP_001350447.1 equilibrative nucleoside transporter 3 isoform c
NM_018344.6 NP_060814.4 equilibrative nucleoside transporter 3 isoform a

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables cytidine transmembrane transporter activity IDA
IDA: Inferred from direct assay
19164483 GOA
enables guanine transmembrane transporter activity IDA
IDA: Inferred from direct assay
19164483 GOA
enables monoamine transmembrane transporter activity IDA
IDA: Inferred from direct assay
19164483 GOA
enables neurotransmitter transmembrane transporter activity IDA
IDA: Inferred from direct assay
19164483 GOA
enables nucleobase transmembrane transporter activity IDA
IDA: Inferred from direct assay
19164483 GOA
enables nucleoside transmembrane transporter activity IDA
IDA: Inferred from direct assay
15701636 GOA
enables nucleoside transmembrane transporter activity IMP
IMP: Inferred from mutant phenotype
19164483 GOA
enables organic cation transmembrane transporter activity IDA
IDA: Inferred from direct assay
19164483 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
25910212 GOA
enables uracil transmembrane transporter activity IDA
IDA: Inferred from direct assay
19164483 GOA
enables uridine transmembrane transporter activity IDA
IDA: Inferred from direct assay
19164483 GOA
Biological Process GO Annotation Evidence References Source
involved in adenosine transport IDA
IDA: Inferred from direct assay
15701636 GOA
involved in adenosine transport IMP
IMP: Inferred from mutant phenotype
19164483 GOA
involved in cytidine transport IDA
IDA: Inferred from direct assay
19164483 GOA
involved in dopamine transport IDA
IDA: Inferred from direct assay
19164483 GOA
involved in guanine transmembrane transport IDA
IDA: Inferred from direct assay
19164483 GOA
involved in inosine transport IDA
IDA: Inferred from direct assay
19164483 GOA
involved in norepinephrine transport IDA
IDA: Inferred from direct assay
19164483 GOA
involved in nucleobase transport IDA
IDA: Inferred from direct assay
19164483 GOA
involved in nucleoside transmembrane transport IDA
IDA: Inferred from direct assay
15701636 GOA
involved in nucleoside transmembrane transport IMP
IMP: Inferred from mutant phenotype
19164483 GOA
involved in nucleoside transport IDA
IDA: Inferred from direct assay
15701636 GOA
involved in nucleoside transport IMP
IMP: Inferred from mutant phenotype
19164483 GOA
involved in purine nucleobase transmembrane transport IDA
IDA: Inferred from direct assay
19164483 GOA
involved in pyrimidine nucleobase transmembrane transport IDA
IDA: Inferred from direct assay
19164483 GOA
involved in serotonin transport IDA
IDA: Inferred from direct assay
19164483 GOA
involved in uracil transmembrane transport IDA
IDA: Inferred from direct assay
19164483 GOA
involved in uridine transmembrane transport IDA
IDA: Inferred from direct assay
19164483 GOA
Cellular Component GO Annotation Evidence References Source
located in late endosome membrane IDA
IDA: Inferred from direct assay
15701636 GOA
located in lysosomal membrane IDA
IDA: Inferred from direct assay
15701636 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SLC29A3 Protein Structure

Nucleoside_tran

Nucleoside_tran: Nucleoside transporter (172 - 472)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 475 a.a.
Protein Preferred Names Protein Names

equilibrative nucleoside transporter 3

  • solute carrier family 29 (equilibrative nucleoside transporter), member 3

SLC29A3 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
SLC29A3 Q9BZD2 CREB3 Homo sapiens O43889-2
Y2H Bait-Prey Pool
25910212
Intra
SLC29A3 Q9BZD2 CREB3 Homo sapiens O43889-2
Validated Y2H
25910212
Intra
SLC29A3 Q9BZD2 CREB3 Homo sapiens O43889-2
Y2H Array
25910212
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Histiocytosis-Lymphadenopathy Plus Syndrome

  • H Syndrome

  • Histiocytosis With Joint Contractures And Sensorineural Deafness

  • Faisalabad Histiocytosis

  • Shml

  • Hjcd

  • Rosai-Dorfman Disease

  • Pigmented Hypertrichosis With Insulin-Dependent Diabetes Mellitus

  • Phid

  • Sinus Histiocytosis And Massive Lymphadenopathy

  • Familial Rosai-Dorfman Disease

  • Slc29a3 Spectrum Disorder

  • Sinus Histiocytosis With Massive Lymphadenopathy

  • Histiocytosis And Lymphadenopathy With Or Without Cutaneous, Cardiac, And/Or Endocrine Features, Joint Contractures, And/Or Deafness

  • Hyperpigmentation, Cutaneous, With Hypertrichosis, Hepatosplenomegaly, Heart Anomalies, And Hypogonadism With Or Without Hearing Loss

  • Rosai-Dorfman Disease, Familial

  • Cutaneous Hyperpigmentation With Hypertrichosis, Hepatosplenomegaly, Heart Anomalies, And Hypogonadism With Or Without Hearing Loss

  • Histiocytosis And Lymphadenopathy With Or Without Cutaneous, Cardiac, And/Or Endocrine Features, Joint Contractures And/Or Deafness

  • Rdd

  • Rosaï-Dorfman Disease

  • Slc29a3 Disorder

  • Destombes-Rosai-Dorfman Disease

  • Rosai-Dorfman-Destombes Disease

  • HLAS

  • Cutaneous Hyperpigmentation With Hypertrichosis Hepatosplenomegaly Heart Anomalies And Hypogonadism With Or Without Hearing Loss

  • Histiocytosis And Lymphadenopathy With Or Without Cutaneous Cardiac And/Or Endocrine Features Joint Contractures And/Or Deafness

  • H Disease

  • Sinus Histiocytosis
Dysosteosclerosis
Asrar Facharzt Haque Syndrome
Histiocytosis

  • Chronic Histiocytosis X

  • Hand Schuller Christian Disease

  • Hand-Schüller-Christian Disease

  • Histiocytic Syndrome

  • Histiocytosis, Langerhans-Cell
Hypertrichosis
Polyclonal Hypergammaglobulinemia

  • Polyclonal Gammopathy
Diabetes Mellitus

  • Diabetes
Hypogonadism
Sensorineural Hearing Loss

  • Sensory Hearing Loss

  • Sensorineural Deafness

  • Sensorineural Hearing Loss Disorder

  • Hearing Loss, Sensorineural

  • Central Hearing Loss

  • High Frequency Deafness

  • High Frequency Hearing Loss

  • High-Frequency Hearing Loss

  • Perceptive Deafness

  • Perceptive Hearing Loss

  • Perceptive Hearing Loss Or Deafness

  • Hearing Loss Sensorineural

  • Deafness Sensorineural

  • Hearing Loss High-Frequency

  • Hearing Loss, Central

  • Hearing Loss, High-Frequency
Osteopetrosis

  • Marble Bone Disease

  • Albers-Schonberg Disease

  • Osteopetroses

  • Marble Bones

  • Osteopetrosis And Related Disorders

  • Congenital Osteopetrosis

  • Marble Bone

  • Albers-Schoenberg Disease

  • Albers-Schonberg Osteopetrosis

  • Osteosclerosis Fragilis

  • Ivory Bones
Rhinoscleroma
Hair Disease

  • Hair Diseases

  • Hair Anomaly

  • Hair Disorder

  • Hair Problems
Thiamine-Responsive Megaloblastic Anemia Syndrome

  • TRMA

  • Rogers Syndrome

  • Thiamine-Responsive Myelodysplasia

  • Thiamine-Responsive Anemia Syndrome

  • Thiamine Metabolism Dysfunction Syndrome 1

  • Thmd1

  • Megaloblastic Anemia, Thiamine-Responsive, With Diabetes Mellitus And Sensorineural Deafness

  • Thiamine-Responsive Megaloblastic Anemia With Diabetes Mellitus And Sensorineural Deafness

  • Thiamine Responsive Megaloblastic Anemia Syndrome

  • Megaloblastic Anemia Thiamine-Responsive With Diabetes Mellitus And Sensorineural Deafness

  • Thiamine-Responsive Megaloblastic Anemia

  • Thiamine-Responsive Anaemia Syndrome

  • Thiamine-Responsive Megaloblastic Anaemia Syndrome

  • Thiamine-Responsive Megaloblastic Anaemia With Diabetes Mellitus And Sensorineural Deafness

  • Thiamine-Responsive Megaloblastic Anemia With Diabetes Mellitus And Sensorineural Hearing Loss
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS13155 SLC29A3 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus SLC29A3 VGNC VGNC:106931
Felis catus SLC29A3 VGNC VGNC:65297
Mus musculus SLC29A3 MGD MGI:1918529
Rattus norvegicus SLC29A3 RGD RGD:727811
Canis familiaris SLC29A3 VGNC VGNC:46335
Macaca mulatta SLC29A3 VGNC VGNC:77561
Others SLC29A3 NCBI