PRPSAP1 - phosphoribosyl pyrophosphate synthetase associated protein 1 Gene

Also Known as PAP39

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 5635

About PRPSAP1

Cytogenetic location: 17q25.1 Genomic coordinates (GRCh38): 17:76,309,478-76,354,198 (from NCBI)

This gene has 12 transcripts (splice variants), 280 orthologues and 4 paralogues. Ubiquitous expression in thyroid (RPKM 21.2), testis (RPKM 17.1) and 25 other tissues.

Summary

Enables identical protein binding activity. Predicted to be involved in 5-phosphoribose 1-diphosphate biosynthetic process and purine nucleotide biosynthetic process. Predicted to be part of ribose phosphate diphosphokinase complex. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]

PRPSAP1 Products (3)

mRNA Protein Name
NM_001330503.2 NP_001317432.1 phosphoribosyl pyrophosphate synthase-associated protein 1 isoform 2
NM_001366236.2 NP_001353165.1 phosphoribosyl pyrophosphate synthase-associated protein 1 isoform 2
NM_002766.3 NP_002757.2 phosphoribosyl pyrophosphate synthase-associated protein 1 isoform 1
Molecular Function GO Annotation Evidence References Source
enables identical protein binding IPI
IPI: Inferred from physical interaction
16189514 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
16189514 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

PRPSAP1 Protein Structure

Pribosyltran_N

Pribosyltran_N: N-terminal domain of ribose phosphate pyrophosphokinase (44 - 155)

Pribosyl_synth

Pribosyl_synth: Phosphoribosyl synthetase-associated domain (196 - 379)

  • 0
  • 100
  • 200
  • 300
  • 385 a.a.
Protein Preferred Names Protein Names

phosphoribosyl pyrophosphate synthase-associated protein 1

  • 39 kDa phosphoribosypyrophosphate synthase-associated protein

PRPSAP1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
PRPSAP1 Q14558 UBE2I Homo sapiens Q7KZS0 32296183
Intra
PRPSAP1 Q14558 UBE2I Homo sapiens Q7KZS0 32296183
Intra
PRPSAP1 Q14558 UBE2I Homo sapiens Q7KZS0 32296183
Intra
PRPSAP1 Q14558 CAPN7 Homo sapiens Q9Y6W3 32296183
Intra
PRPSAP1 Q14558 PRPS2 Homo sapiens P11908 33961781
Intra
PRPSAP1 Q14558 PRPSAP1 Homo sapiens Q14558 16189514
Intra
PRPSAP1 Q14558 PRPSAP1 Homo sapiens Q14558 19447967
Intra
PRPSAP1 Q14558 PRPS1 Homo sapiens P60891 31515488
Intra
PRPSAP1 Q14558 PRPSAP1 Homo sapiens Q14558 32296183
Intra
PRPSAP1 Q14558 PRPSAP1 Homo sapiens Q14558 32296183
Intra
PRPSAP1 Q14558 PRPSAP1 Homo sapiens Q14558 32296183
Intra
PRPSAP1 Q14558 PRPSAP2 Homo sapiens O60256 32296183
Intra
PRPSAP1 Q14558 PRPSAP2 Homo sapiens O60256 32296183
Intra
PRPSAP1 Q14558 PRPSAP2 Homo sapiens O60256 33961781
Intra
PRPSAP1 Q14558 MAGOHB Homo sapiens Q96A72 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Hepatocellular Carcinoma
  • Liver Cancer

  • Primary Liver Cancer

  • HCC

  • Hepatoma

  • Malignant Neoplasm Of Liver

  • Liver Neoplasms

  • Cancer, Hepatocellular

  • Liver Cell Carcinoma

  • Lcc

  • Hepatoblastoma, Somatic

  • Hepatic Cancer

  • Primary Malignant Neoplasm Of Liver

  • Rare Tumor Of Liver And Intrahepatic Biliary Tract

  • Hepatocellular Carcinoma, Somatic

  • Hepatocellular Carcinoma, Childhood Type, Somatic

  • Hepatocellular Cancer, Somatic

  • Ca Liver - Primary

  • Hepatic Neoplasm

  • Malignant Hepato-Biliary Neoplasm

  • Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary

  • Malignant Neoplasm Of Liver, Primary

  • Malignant Tumor Of Liver

  • Neoplasm Of Liver

  • Non-Resectable Primary Hepatic Malignant Neoplasm

  • Resectable Malignant Neoplasm Of Liver

  • Resectable Malignant Neoplasm Of The Liver

  • Primary Liver Carcinoma

  • Primary Malignant Liver Neoplasm

  • Primary Cancer Of Liver

  • Primary Tumor Of The Liver

  • Rare Tumor Of Liver And Ibt

  • Hepatocellular Cancer

  • Neoplasm Of The Liver

  • Carcinoma, Hepatocellular

  • Hepatomas

  • Liver Neoplasm

  • Liver Carcinoma

  • Liver And Intrahepatic Biliary Tract Carcinoma

  • Malignant Hepatobiliary Neoplasm

  • Adult Primary Hepatocellular Carcinoma

  • Hepatoblastoma

  • Carcinoma Of Liver

  • Malignant Liver Tumour

  • Malignant Hepatic Tumour

Bardet-Biedl Syndrome 7
  • BBS7

  • Bardet-Biedl Syndrome, Type 7

Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
  • CMTX5

  • Rosenberg-Chutorian Syndrome

  • Charcot-Marie-Tooth Disease X-Linked Recessive 5

  • Optic Atrophy, Polyneuropathy, And Deafness

  • Charcot-Marie-Tooth Neuropathy X-Linked Recessive 5

  • Cmt5x

  • X-Linked Charcot-Marie-Tooth Disease Type 5

  • Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 5

  • Optic Atrophy Polyneuropathy Deafness

  • Optic Atrophy With Polyneuropathy And Deafness

  • Charcot-Marie-Tooth Disease, X-Linked Recessive, Type 5

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, X-Linked 1
  • DFNX1

  • Dfn2

  • Deafness, X-Linked 2, Sensorineural Congenital

  • X-Linked Deafness 1

  • X-Linked Sensorineural Congenital Deafness 2

  • Deafness, X-Linked, 1

  • Congenital Sensorineural Deafness X-Linked 2

  • Deafness, X-Linked, Type 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
Canis familiaris PRPSAP1 VGNC VGNC:45034
Bos taurus PRPSAP1 VGNC VGNC:33386
Macaca mulatta PRPSAP1 VGNC VGNC:76429
Rattus norvegicus PRPSAP1 RGD RGD:620206
Mus musculus PRPSAP1 MGD MGI:1915013
Felis catus PRPSAP1 VGNC VGNC:97569
Others PRPSAP1 NCBI