HPRT1 - hypoxanthine phosphoribosyltransferase 1 Gene

Also Known as HPRT; HGPRT

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 3251

About HPRT1

Cytogenetic location: Xq26.2-q26.3 Genomic coordinates (GRCh38): X:134,460,165-134,500,668 (from NCBI)

This gene has 3 transcripts (splice variants), 257 orthologues, 6 paralogues and is associated with 5 phenotypes. Broad expression in testis (RPKM 45.9), brain (RPKM 28.9) and 25 other tissues.

Summary

The protein encoded by this gene is a transferase, which catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate. This enzyme plays a central role in the generation of purine nucleotides through the purine salvage pathway. Mutations in this gene result in Lesch-Nyhan syndrome or gout.[provided by RefSeq, Jun 2009]

HPRT1 Products (1)

mRNA Protein Name
NM_000194.3 NP_000185.1 hypoxanthine-guanine phosphoribosyltransferase
Molecular Function GO Annotation Evidence References Source
enables guanine phosphoribosyltransferase activity IDA
IDA: Inferred from direct assay
4208686 GOA
enables hypoxanthine phosphoribosyltransferase activity IDA
IDA: Inferred from direct assay
6300847 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
8044844 GOA
enables magnesium ion binding IDA
IDA: Inferred from direct assay
10360366 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
16189514 GOA
Biological Process GO Annotation Evidence References Source
involved in GMP catabolic process IDA
IDA: Inferred from direct assay
19527031 GOA
involved in GMP salvage IDA
IDA: Inferred from direct assay
4208686 GOA
involved in IMP metabolic process IDA
IDA: Inferred from direct assay
19527031 GOA
involved in guanine salvage IDA
IDA: Inferred from direct assay
19527031 GOA
involved in hypoxanthine metabolic process IMP
IMP: Inferred from mutant phenotype
9824441 GOA
involved in hypoxanthine salvage IDA
IDA: Inferred from direct assay
19527031 GOA
involved in positive regulation of dopamine metabolic process IMP
IMP: Inferred from mutant phenotype
8643611 GOA
involved in protein homotetramerization IPI
IPI: Inferred from physical interaction
15990111 GOA
involved in purine nucleotide biosynthetic process IMP
IMP: Inferred from mutant phenotype
9824441 GOA
involved in purine ribonucleoside salvage IMP
IMP: Inferred from mutant phenotype
9824441 GOA
Cellular Component GO Annotation Evidence References Source
located in cytoplasm IDA
IDA: Inferred from direct assay
6300847 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

HPRT1 Protein Structure

Pribosyltran

Pribosyltran: Phosphoribosyl transferase domain (37 - 163)

  • 0
  • 100
  • 200
  • 218 a.a.
Protein Preferred Names Protein Names

hypoxanthine-guanine phosphoribosyltransferase

  • HGPRTase

HPRT1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
HPRT1 P00492 SREK1IP1 Homo sapiens Q8N9Q2 32296183
Intra
HPRT1 P00492 ISCU Homo sapiens Q9H1K1 25416956
Intra
HPRT1 P00492 EFCAB3 Homo sapiens Q8N7B9-2 32296183
Intra
HPRT1 P00492 HTT Homo sapiens P42858 32814053
Intra
HPRT1 P00492 HTT Homo sapiens P42858 32814053
Intra
HPRT1 P00492 HTT Homo sapiens P42858 32814053
Intra
HPRT1 P00492 SPRED1 Homo sapiens Q7Z699 32814053
Intra
HPRT1 P00492 SPRED1 Homo sapiens Q7Z699 32814053
Intra
HPRT1 P00492 SPRED1 Homo sapiens Q7Z699 32814053
Intra
HPRT1 P00492 SDCBP Homo sapiens O00560 25416956
Intra
HPRT1 P00492 PRTFDC1 Homo sapiens Q9NRG1 25910212
Intra
HPRT1 P00492 PRTFDC1 Homo sapiens Q9NRG1 32296183
Intra
HPRT1 P00492 PRTFDC1 Homo sapiens Q9NRG1 16189514
Intra
HPRT1 P00492 PRTFDC1 Homo sapiens Q9NRG1 33961781
Intra
HPRT1 P00492 PRTFDC1 Homo sapiens Q9NRG1 25910212
Intra
HPRT1 P00492 PRTFDC1 Homo sapiens Q9NRG1 25416956
Intra
HPRT1 P00492 PRTFDC1 Homo sapiens Q9NRG1 25910212
Intra
HPRT1 P00492 PRTFDC1 Homo sapiens Q9NRG1 32296183
Intra
HPRT1 P00492 PRTFDC1 Homo sapiens Q9NRG1 32296183
Intra
HPRT1 P00492 NTAQ1 Homo sapiens Q96HA8 32296183
Intra
HPRT1 P00492 NTAQ1 Homo sapiens Q96HA8 25416956
Intra
HPRT1 P00492 NTAQ1 Homo sapiens Q96HA8 16189514
Intra
HPRT1 P00492 NTAQ1 Homo sapiens Q96HA8 25416956
Intra
HPRT1 P00492 SPG21 Homo sapiens Q9NZD8 32296183
Intra
HPRT1 P00492 GNMT Homo sapiens Q14749 32296183
Intra
HPRT1 P00492 EEF2KMT Homo sapiens Q96G04 32296183
Intra
HPRT1 P00492 HPRT1 Homo sapiens P00492 31515488
Intra
HPRT1 P00492 HPRT1 Homo sapiens P00492 25502805
Intra
HPRT1 P00492 HPRT1 Homo sapiens P00492 25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant HPRT1 Proteins

Cat. No. Product Name Accession Purity
HY-P70227 HGPRT Protein, Human (His) P00492 (M1-A218) ≥ 90%, as determined by reducing SDS-PAGE.

HPRT1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P83255 HPRT Antibody (YA3000) WB, IP Human, Rat
HY-P83889 HPRT Antibody (YA3586) WB, IHC-P, FC, ELISA Human
HY-P83889A HPRT Antibody (YA3586)(PBS only) WB, IHC-P, FC, ELISA Human
HY-P85202 HPRT Antibody (YA4894) WB, ELISA Human

Related Diseases

Diseases Alias
Lesch-Nyhan Syndrome
  • Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency

  • LNS

  • Hprt Deficiency

  • Complete Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency

  • Hypoxanthine Guanine Phosphoribosyltransferase Deficiency

  • X-Linked Hyperuricemia

  • Choreoathetosis Self-Mutilation Syndrome

  • Hprt1 Deficiency

  • Hprt Deficiency, Complete

  • Deficiency Of Imp Pyrophosphorylase

  • Hgprt Deficiency

  • Lesch-Nyhan Disease

  • Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency

  • Hg-Prt Deficiency

  • Hypoxanthine-Guanine-Phosphoribosyltransferase Deficiency

  • Lesch - Nyhan Syndrome

  • Hprt1 Disorders

  • Lesch Nyhan Syndrome

  • Complete Hprt Deficiency Complete

  • Lesch Nyhan Disease

  • Complete Hprt Deficiency

  • Deficiency Of Guanine Phosphoribosyltransferase

  • Deficiency Of Hypoxanthine Phosphoribosyltransferase

  • Hypoxanthine Phosphoribosyltransferase Deficiency

  • Juvenile Gout, Choreoathetosis, Mental Retardation Syndrome

  • Juvenile Hyperuricemia Syndrome

  • Lnd

  • Primary Hyperuricemia Syndrome

  • Total Hprt Deficiency

  • Total Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency

  • X-Linked Primary Hyperuricemia

  • X-Linked Uric Aciduria Enzyme Defect

  • Hprt Complete Deficiency

  • Hprt Deficiency Grade Iv

  • Hypoxanthine Guanine Phosphoribosyltransferase Complete Deficiency

  • Hypoxanthine Guanine Phosphoribosyltransferase Deficiency, Grade Iv

  • Hypoxanthine-Guanine Phosphoribosyltransferase 1 Deficiency

  • Hprt - [ Hypoxanthine-Guanine Phosphoribosyltransferase] Complete Deficiency

  • Total Hgprt - [Hypoxanthine-Guanine Phosphoribosyltransferase] Deficiency

Hyperuricemia, Hprt-Related
  • Hprt-Related Gout

  • Kelley-Seegmiller Syndrome

  • Hprt Deficiency, Partial

  • HRH

  • Gout, Hprt-Related

  • Hprt1 Deficiency, Partial

  • Hrpt-Related Hyperuricemia

  • Hprt Deficiency, Grade I

  • Hprt Partial Deficiency

  • Hprt-Related Hyperuricemia

  • Hprt1 Partial Deficiency

  • Hypoxanthine Guanine Phosphoribosyltransferase 1 Partial Deficiency

  • Hypoxanthine Guanine Phosphoribosyltransferase Deficiency, Grade I

  • Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency

  • Partial Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency

  • Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency, Partial

  • Hyperuricemia, Hrpt-Related

Gout
  • Gouty Arthritis

  • Articular Gout

  • Gouty Arthropathy

  • Arthritis, Gouty

  • Arthritis Gouty

  • Idiopathic Gout

  • Idiopathic Gout, Unspecified Site

  • Gouty Bursitis

  • Uratic Arthritis

  • Gout Nos

  • Gouty

  • Gouty Diathesis

Hyperuricemia
  • Blood Urate Raized

  • Uricacidemia

Nephrolithiasis, Uric Acid
  • Nephrolithiasis, Uric Acid, Susceptibility To

  • Uric Acid Urolithiasis

  • Uric Acid Nephrolithiasis

  • UAN

  • Acute Urate Nephropathy

  • Urolithiasis, Uric Acid

  • Urolithiasis, Uric Acid, Susceptibility To

  • Uric Acid Renal Calculus

Phosphoribosylpyrophosphate Synthetase Superactivity
  • PRPS1 SUPERACTIVITY

  • Prpp Synthetase Superactivity

  • Gout, Prps-Related

  • Prpp Synthetase Deficiency

  • Prpp Synthetase Overactivity

  • Prs Overactivity

  • Prs Superactivity

  • Mild Phosphoribosylpyrophosphate Synthetase Superactivity

  • Mild Prpp Synthetase Superactivity

  • Mild Prps1 Superactivity

  • Severe Phosphoribosylpyrophosphate Synthetase Superactivity

  • Severe Prpp Synthetase Superactivity

  • Severe Prps1 Superactivity

  • Prps-Related Gout

  • Superactivity, Phosphoribosylpyrophosphate Synthetase

Purine-Pyrimidine Metabolic Disorder
  • Inborn Errors Of Purine-Pyrimidine Metabolism

  • Disorder Of Purine Or Pyrimidine Metabolism

Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
  • Familial Juvenile Hyperuricemic Nephropathy

  • Mckd2

  • Familial Juvenile Hyperuricemic Nephropathy Type 1

  • Fjhn

  • Medullary Cystic Kidney Disease 2

  • Uromodulin-Associated Kidney Disease

  • Medullary Cystic Kidney Disease Type 2

  • ADTKD1

  • Hnfj1

  • Glomerulocystic Kidney Disease With Hyperuricemia And Isosthenuria

  • Adtkd-Umod

  • Familial Juvenile Hyperuricemic Nephropathy 1

  • Umod-Related Adtkd

  • Umod-Related Autosomal Dominant Tubulointerstitial Kidney Disease

  • Hyperuricemic Nephropathy, Familial Juvenile, 1

  • Gouty Nephropathy, Familial Juvenile

  • Medullary Cystic Kidney Disease 2, Autosomal Dominant

  • Admckd2

  • Autosomal Dominant Tubulointerstitial Kidney Disease Due To Umod Mutations

  • Adtkd Due To Umod Mutations

  • Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related

  • Autosomal Dominant Medullary Cystic Kidney Disease Type 2

  • Umod-Associated Kidney Disease

  • Uromodulin Kidney Disease

  • Familial Gout-Kidney Disease

  • Familial Gouty Nephropathy

  • Umak

  • Umod-Related Kidney Disease

  • Uromodulin Storage Disease

  • Fjhn1

  • Gouty Nephropathy Familial Juvenile

  • Nephropathy Familial With Gout

  • Hyperuricemic Nephropathy, Familial Juvenile 1

  • Hyperuricemic Nephropathy, Familial Juvenile

  • Kidney Disease, Glomerulocystic, With Hyperuricemia And Isosthenuria

  • Nephropathy, Hyperuricemic, Juvenile, Familial, Type 1

  • Kidney Disease, Cystic, Medullary, Type 2

  • Medullary Cystic Kidney Disease Type Ii

  • Familial Juvenile Gout

Disorder Of Purine Metabolism
  • Purine Metabolism Disorder

Cockayne Syndrome
  • Cockayne'S Syndrome

  • Dwarfism-Retinal Atrophy-Deafness Syndrome

  • Neill-Dingwall Syndrome

  • Progeria-Like Syndrome

  • Progeroid Nanism

  • Cs

Bloom Syndrome
  • BLM

  • Bs

  • Bls

  • Bloom-Torre-Machacek Syndrome

  • Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 1

  • Mgrisce1

  • Congenital Telangiectatic Erythema

  • Congenital Telangiectatic Erythema Syndrome

  • Growth Deficiency, Sun-Sensitive, Telangiectatic, Hypo And Hyperpigmented Skin, Predisposition To Malignancy And Chromosomal Instability

  • Bloom'S Syndrome

  • Bsyn

Nephrolithiasis
  • Kidney Stones

  • Stone - Kidney/Ureter

  • Kidney Calculi

Hypouricemia, Renal, 1
  • Dalmatian Hypouricemia

  • Renal Hypouricemia

  • Hypouricemia, Renal

  • Familial Renal Hypouricemia

  • RHUC1

  • Hereditary Renal Hypouricemia

  • Familial Renal Hypouricaemia

  • Rhuc

  • Hypouricemia Renal 1

  • Hypouricemia, Renal, Type 1

Xeroderma Pigmentosum, Variant Type
  • Xeroderma Pigmentosum

  • XPV

  • Xeroderma Pigmentosum Variant Type

  • Xeroderma Pigmentosum With Normal Dna Repair Rates

  • Photosensitivity With Defective Dna Synthesis

  • Xp

  • De Sanctis-Cacchione Syndrome

  • Desanctis-Cacchione Syndrome

  • Xeroderma Pigmentosa

  • Xerodermic Idiocy

  • Xeroderma Pigmentosum Variant

  • Xp - [Xeroderma Pigmentosum]

  • Atrophoderma Pigmentosum

Teratocarcinoma
  • Mixed Embryonal Carcinoma And Teratoma

Urolithiasis
Ataxia-Telangiectasia
  • Ataxia Telangiectasia

  • Louis-Bar Syndrome

  • AT

  • At1

  • Ataxia-Telangiectasia Syndrome

  • Ataxia - Telangiectasia Variant

  • Boder-Sedgwick Syndrome

  • Louis Bar Syndrome

  • Cerebello-Oculocutaneous Telangiectasia

  • Immunodeficiency With Ataxia Telangiectasia

  • A-T

  • Ataxia Telangiectasia Syndrome

  • Atm

  • Telangiectasia, Cerebello-Oculocutaneous

  • Ataxia-Telangiectasia Variant

Incontinentia Pigmenti
  • Bloch-Sulzberger Syndrome

  • IP

  • Incontinentia Pigmenti, Familial Male-Lethal Type

  • Incontinentia Pigmenti Syndrome

  • Bloch-Siemens Syndrome

  • Ip2

  • Incontinentia Pigmenti, Type Ii, Formerly

  • Ip2, Formerly

  • Incontinentia Pigmenti Type 2

  • Bloch-Siemens-Sulzberger Syndrome

  • Familial Incontinentia Pigmenti Male-Lethal Type

  • Familial Incontinentia Pigmenti Type Ii

  • Incontinentia Pigmenti, Type Ii

  • Bloch Sulzberger Syndrome

  • Incontinentia Pigmenti Achromians

  • Incontinentia Pigmenti Of Bloch-Sulzberger

  • Nevus Pigmentosus Systematicus

Adenine Phosphoribosyltransferase Deficiency
  • Aprt Deficiency

  • 2,8-Dihydroxyadenine Urolithiasis

  • APRTD

  • 2,8-Dihydroxyadeninuria

  • Dihydroxyadeninuria

  • Urolithiasis, 2,8-Dihydroxyadenine

  • Urolithiasis, Dha

  • Nephrolithiasis, Dha

  • Dha Crystalline Nephropathy

  • Nephrolithiasis Dha

  • Urolithiasis Dha

Immunodeficiency With Hyper-Igm, Type 1
  • Immunodeficiency, X-Linked, With Hyper-Igm

  • Hyper Igm Syndrome

  • HIGM1

  • Xhim

  • Hyper-Igm Syndrome

  • Higm

  • Hyper-Igm Syndrome 1

  • Immunodeficiency 3

  • Imd3

  • Immunodeficiency With Hyper-Igm

  • Immunodeficiency With Hyper Igm Type 1

  • Ihis

  • X-Linked Hyper Igm Syndrome

  • Hyper-Igm Immunodeficiency, X-Linked

  • Hyper Igm Immunodeficiency, X-Linked

  • Hyper Igm Syndrome 1

  • X-Linked Immunodeficiency With Hyper-Igm 1

  • Immunodeficiency, With Hyper Igm

  • Immunodeficiency, With Hyper Igm, Type 1

  • Hyper-Igm Immunodeficiency Syndrome, Type 1

  • Hyperimmunoglobulin M Syndrome

Paroxysmal Nocturnal Hemoglobinuria
  • Marchiafava-Micheli Disease

  • Pnh

  • Hemoglobinuria, Paroxysmal

  • Marchiafava-Micheli Syndrome

  • Paroxysmal Hemoglobinuria Nocturnal

  • Nocturnal Haemoglobinuria

  • Nocturnal Paroxysmal Haematuria

  • Nocturnal Paroxysmal Haemoglobinaemia

Purine Nucleoside Phosphorylase Deficiency
  • Purine-Nucleoside Phosphorylase Deficiency

  • Pnp Deficiency

  • Nucleoside Phosphorylase Deficiency

  • Immunodeficiency Due To Purine Nucleoside Phosphorylase Deficiency

  • Deficiency Of Inosine Phosphorylase

  • Pnpase Deficiency

  • PNPD

Connective Tissue Disease
  • Connective Tissue Diseases

  • Connective Tissue Disorder

  • Abnormality Of Connective Tissue

  • Disorder Of Connective Tissue

  • Connective Tissue Disorders

Fanconi Anemia, Complementation Group A
  • Fanconi Anemia

  • Fanconi Pancytopenia

  • Fanconi Anemia Complementation Group A

  • FANCA

  • Fa

  • Fanconi Panmyelopathy

  • Fanconi'S Anemia

  • Fanconi Anaemia

  • Fanconi'S Anaemia

  • Fanconi Hypoplastic Anemia

  • Estren-Dameshek Variant Of Fanconi Anemia

  • Estren-Dameshek Variant Of Fanconi Pancytopenia

  • Fanconi Anemia Estren-Dameshek Variant

  • Fanconis Anemia

Xanthinuria
  • Xanthine Dehydrogenase Deficiency

  • Xanthine Oxidase Deficiency

  • Hereditary Xanthinuria

  • Xanthic Urolithiasis

  • Xanthine Stone Disease

  • Xanthinuria, Type I

  • Combined Deficiency Of Xanthine Dehydrogenase And Aldehyde Oxidase

  • Xdh Deficiency

  • Classic Xanthinuria

  • Xanthinuria, Type Ii

  • Classical Xanthinuria

  • Xanthine Calculus

Lynch Syndrome
  • Hereditary Nonpolyposis Colon Cancer

  • Hereditary Nonpolyposis Colorectal Cancer

  • Hereditary Nonpolyposis Colorectal Carcinoma

  • Hereditary Nonpolyposis Colorectal Neoplasms

  • Familial Nonpolyposis Colon Cancer

  • Hnpcc

  • Coca 1

  • Hereditary Defective Mismatch Repair Syndrome

  • Hereditary Non-Polyposis Colon Cancer

  • Hereditary Non-Polyposis Colon Cancer Syndrome

  • Hereditary Non-Polyposis Colorectal Cancer

  • Hereditary Non-Polyposis Colorectal Cancer Syndrome

  • Hereditary Nonpolyposis Colon Cancer Syndrome

  • Hereditary Nonpolyposis Colorectal Cancer Syndrome

  • Hereditary Nonpolyposis Colorectal Neoplasm

  • Hnpcc - Hereditary Nonpolyposis Colon Cancer

  • Cancer Family Syndrome

  • Familial Nonpolyposis Colorectal Cancer

  • Colon Cancer, Familial Nonpolyposis

  • Colorectal Neoplasms, Hereditary Nonpolyposis

  • Cancer, Colorectal, Nonpolyposis, Hereditary

  • Colorectal Cancer, Hereditary Nonpolyposis, Type 1

Fragile X Syndrome
  • FXS

  • Martin-Bell Syndrome

  • Fraxa Syndrome

  • Marker X Syndrome

  • X-Linked Mental Retardation And Macroorchidism

  • Fragile X Mental Retardation Syndrome

  • Fra Syndrome

  • Mental Retardation, X-Linked, Associated With Marxq28

  • X-Linked Intellectual Disability And Macroorchidism

  • Frax Syndrome

  • Symptomatic Form Of Fragile X Syndrome In Female Carriers

  • Fragile-X Syndrome

  • Fraxe Syndrome

Arts Syndrome
  • ARTS

  • Mrxsarts

  • Ataxia, Fatal X-Linked, With Deafness And Loss Of Vision

  • Mrxs18

  • Lethal Ataxia With Deafness And Optic Atrophy

  • Fatal X-Linked Ataxia With Deafness And Loss Of Vision

  • Mental Retardation, X-Linked, Syndromic, Arts Type

  • Mental Retardation, X-Linked, Syndromic 18

  • Syndromic X-Linked Mental Retardation 18

  • Syndromic X-Linked Mental Retardation Arts Type

  • Lethal Ataxia-Deafness-Optic Atrophy

  • X-Linked Fatal Ataxia With Deafness And Loss Of Vision

  • Ataxia-Deafness-Optic Atrophy, Lethal

  • Lethal Ataxia With Hearing Loss And Optic Atrophy

  • Art

Deafness, Autosomal Recessive 40
  • DFNB40

  • Autosomal Recessive Nonsyndromic Deafness 40

  • Autosomal Recessive Deafness 40

Deafness, Autosomal Recessive 55
  • DFNB55

  • Autosomal Recessive Nonsyndromic Deafness 55

  • Autosomal Recessive Deafness 55

Dissociated Nystagmus
Rett Syndrome
  • Atypical Rett Syndrome

  • RTT

  • Rett Disorder

  • Rts

  • Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use

  • Rett Syndrome, Preserved Speech Variant

  • Rett Syndrome, Atypical

  • Rett'S Disorder

  • Rett Syndrome Variant

  • Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome

  • Cerebroatrophic Hyperammonemia

  • Rett Like Syndrome

  • Rett'S Syndrome

  • Atypical Rtt

  • Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use

  • Rett Syndrome Preserved Speech Variant

  • Rett Syndrome Zappella Variant

  • Rett Syndrome, Zappella Variant

Movement Disease
  • Movement Disorders

  • Movement Disorder

Dystonia
  • Dystonic Disease

  • Dystonic Disorder

  • Dystonia Disorders

  • Neuroleptic Dyskinesia

Inflammatory Bowel Disease 16
  • IBD16

  • Inflammatory Bowel Disease 16, Susceptibility To

Colorectal Cancer
  • Colon Cancer

  • Colorectal Carcinoma

  • Colon Carcinoma

  • Colorectal Cancer, Susceptibility To

  • Carcinoma Of Colon

  • CRC

  • Colorectal Cancer With Chromosomal Instability, Somatic

  • Colon Cancer, Somatic

  • Colon Cancer, Susceptibility To

  • Colonic Neoplasms

  • Colorectal Neoplasms

  • Colorectal Cancer, Somatic

  • Colon Cancer, Advanced, Somatic

  • Colonic Carcinoma

  • Colorectal Carcinomas

  • Colon Cancers

  • Colorectal Cancers

  • Cancer, Colorectal, Somatic

  • Cancer, Colon

  • Cancer, Colorectal, Susceptibility To

  • Colorectal Neoplasm

  • Colonic Neoplasm

  • Malignant Tumor Of Colon

Aplastic Anemia
  • Aplastic Anemia, Susceptibility To

  • Anemia Aplastic

  • Idiopathic Aplastic Anemia

  • Secondary Aplastic Anemia

  • Idiopathic Bone Marrow Failure

  • Aplastic Anemia Idiopathic

  • AA

  • Anemia, Aplastic

  • Aplastic Anemia, Idiopathic

  • Erythroid Aplasia

  • Aa - [Aplastic Anaemia]

  • Haematopoietic Aplasia

  • Aleukia Haemorrhagica

  • Anaemia Due To Decreased Red Cell Production

  • Aplasia Bone Marrow

  • Aplastic Bone Marrow

  • Hypoplastic Anaemia Nos

  • Myeloid Bone Marrow Aplasia

  • Pancytopenia

  • Panhaematopenia

  • Hypoproliferative Anaemia

  • Medullary Hypoplasia

  • Red Blood Cells Hypoplastic Anaemia

  • Panmyelophthisis

  • Panhemocytopenia

  • Refractive Hypoproliferative Anaemia

  • Toxic Anaemia

  • Toxic Aplastic Anaemia

  • Aplastic Anaemia Due To Toxic Cause

  • Idiopathic Aplastic Anaemia Nos

Leukemia, Acute Lymphoblastic
  • Acute Lymphoblastic Leukemia

  • ALL

  • Acute Lymphocytic Leukemia

  • Leukemia, Acute Lymphocytic, Susceptibility To, 1

  • Acute Lymphoblastic Leukaemia

  • Precursor Lymphoblastic Lymphoma/Leukemia

  • Precursor Lymphoid Neoplasm

  • Leukemia, Acute Lymphoblastic, Susceptibility To

  • B-Cell Acute Lymphoblastic Leukemia

  • Leukemia, Acute Lymphocytic 1

  • Acute Lymphocytic Leukaemia

  • Acute Lymphoblastic Leukemia/Lymphoma

  • All1

  • Childhood Acute Lymphoblastic Leukemia

  • Leukemia Acute Lymphoblastic 1

  • Leukemia Acute Lymphoblastic B-Hyperdiploid

  • Leukemia Acute Lymphocytic

  • Leukemia Acute Lymphocytic 1

  • Leukemia B-Cell Acute Lymphoblastic

  • Leukemia T-Cell Acute Lymphoblastic

  • Leukemia, Acute Lymphoblastic, 3

  • ALL3

  • Lymphoblastic Leukemia Acute

  • Leukemia, Acute, Lymphoblastic

  • Precursor Cell Lymphoblastic Leukemia Lymphoma

  • Leukemia, Lymphocytic, Acute, L1

  • Leukemia, Acute Lymphoblastic, Susceptibility To, 3

Systemic Lupus Erythematosus
  • Lupus Nephritis

  • SLE

  • Disseminated Lupus Erythematosus

  • Systemic Lupus Erythematosus, Susceptibility To

  • Lupus Erythematosus, Systemic

  • Lupus Nephritis, Susceptibility To

  • Libman-Sacks Disease

  • Systemic Lupus Erythematosus Susceptibility To

  • Sle - Lupus Erythematosus, Systemic

  • Le Syndrome

  • Lupus

  • Lupus Erythematosus Systemic

  • Lupus Erythematosus, Systemic, Susceptibility To

  • Lupus Vulgaris

  • Lupus Erythematosus, Discoid

  • Lupus Erythematosus

  • Systemic Lupus Erythematosus Nos

  • Sle - [Systemic Lupus Erythematosus]

Deficiency Anemia
  • Anemia

  • Deficiency Anemias

  • Anaemia

Syndromic Intellectual Disability
Alzheimer Disease, Familial, 1
  • Alzheimer Disease

  • Alzheimer'S Disease

  • Presenile And Senile Dementia

  • AD1

  • Alzheimer Disease, Susceptibility To

  • Alzheimer Disease, Late-Onset, Susceptibility To

  • Alzheimer Disease 1, Familial

  • AD

  • Familial Alzheimer Disease

  • Alzheimer Disease, Late-Onset

  • Alzheimers Dementia

  • Alzheimer Dementia

  • Alzheimer Sclerosis

  • Alzheimer Syndrome

  • Alzheimer-Type Dementia

  • Dat

  • Primary Senile Degenerative Dementia

  • Sdat

  • Alzheimer Disease 1

  • Autosomal Dominant Alzheimer Disease

  • Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy

  • Late Onset Alzheimer Disease

  • Alzheimers Disease

  • Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy

  • Late-Onset Alzheimers Disease

  • Alzheimer'S Disease Pathway Kegg

  • Dementia Due To Alzheimer'S Disease

  • Alzheimer Disease Type 1

  • Alzheimers

Nervous System Disease
  • Abnormality Of The Nervous System

  • Nervous System Diseases

  • Nervous System Disorder

Retinitis Pigmentosa
  • RP

  • Rod-Cone Dystrophy

  • Autosomal Recessive Retinitis Pigmentosa

  • Non-Syndromic Retinitis Pigmentosa

  • Pericentral Pigmentary Retinopathy

  • Pigmentary Retinopathy

  • Tapetoretinal Degeneration

  • Rcd

  • Retinitis Pigmentosa Autosomal Recessive

  • ARRP

  • Retinitis Pigmentosa, Autosomal Recessive

  • Retinitis Pigmentosa 1

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

Orthologs Information

Species Symbol Source ID
Mus musculus HPRT1 MGD MGI:96217
Canis familiaris HPRT1 VGNC VGNC:41773
Rattus norvegicus HPRT1 RGD RGD:2826
Macaca mulatta HPRT1 VGNC VGNC:73514
Others HPRT1 NCBI