GMPPA GDP-mannose pyrophosphorylase A [Homo sapiens (human)] - Gene

Summary

Official Symbol: GMPPAprovided by HGNC
Official Full Name: GDP-mannose pyrophosphorylase Aprovided by HGNC
Primary source: HGNC:HGNC:22923
See related: Ensembl:ENSG00000144591 MIM:615495; AllianceGenome:HGNC:22923
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: AAMR
Summary: This gene is thought to encode a GDP-mannose pyrophosphorylase. This enzyme catalyzes the reaction which converts mannose-1-phosphate and GTP to GDP-mannose which is involved in the production of N-linked oligosaccharides. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in thyroid (RPKM 13.3), prostate (RPKM 10.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q35

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (219498891..219506989)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (219983636..219991734)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (220363613..220371711)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Evidence of GMPPA founder mutation in indigenous Guatemalan population associated with alacrima, achalasia, and mental retardation syndrome.
Title: Evidence of GMPPA founder mutation in indigenous Guatemalan population associated with alacrima, achalasia, and mental retardation syndrome.
Based on our findings and the previous report describing patients with an overlapping phenotype, we conclude that this novel variant in GMPPA, identified by exome sequencing in the proband and her affected sister, is the genetic cause of their phenotype and may expand the known phenotype of this recently described glycosylation disorder.
Title: A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction.
GMPPA might serve as a GMPPB regulatory subunit mediating feedback inhibition of GMPPB instead of displaying catalytic enzyme activity itself.
Title: Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Alacrima, achalasia, and intellectual disability syndrome MedGen: C4706563 OMIM: 615510 GeneReviews: Not available	Compare labs

Variation

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See Variation Viewer (GRCh37.p13)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

ECD23665 (e-PCR)
- UniSTS:304649

ECD10814 (e-PCR)
- UniSTS:291853

REN53088 (e-PCR)
- UniSTS:377888

REN53089 (e-PCR)
- UniSTS:377889

REN53090 (e-PCR)
- UniSTS:377890

REN53091 (e-PCR)
- UniSTS:377891

REN53092 (e-PCR)
- UniSTS:377892

REN53093 (e-PCR)
- UniSTS:377893

REN53094 (e-PCR)
- UniSTS:377894

REN53095 (e-PCR)
- UniSTS:377895

REN53096 (e-PCR)
- UniSTS:377896

REN53097 (e-PCR)
- UniSTS:377897

REN53098 (e-PCR)
- UniSTS:377898

REN53099 (e-PCR)
- UniSTS:377899

REN53100 (e-PCR)
- UniSTS:377900

REN53101 (e-PCR)
- UniSTS:377901

REN53102 (e-PCR)
- UniSTS:377902

REN53103 (e-PCR)
- UniSTS:377903

REN53104 (e-PCR)
- UniSTS:377904

REN53105 (e-PCR)
- UniSTS:377905

REN53106 (e-PCR)
- UniSTS:377906

REN53107 (e-PCR)
- UniSTS:377907

REN53108 (e-PCR)
- UniSTS:377908

ECD09572 (e-PCR)
- UniSTS:290613

REN53109 (e-PCR)
- UniSTS:377909

REN53110 (e-PCR)
- UniSTS:377910

REN53111 (e-PCR)
- UniSTS:377911

REN53112 (e-PCR)
- UniSTS:377912

REN53113 (e-PCR)
- UniSTS:377913

REN53114 (e-PCR)
- UniSTS:377914

REN53115 (e-PCR)
- UniSTS:377915

REN53116 (e-PCR)
- UniSTS:377916

REN53117 (e-PCR)
- UniSTS:377917

REN53118 (e-PCR)
- UniSTS:377918

REN53119 (e-PCR)
- UniSTS:377919

REN53120 (e-PCR)
- UniSTS:377920

REN53121 (e-PCR)
- UniSTS:377921

REN53122 (e-PCR)
- UniSTS:377922

REN53123 (e-PCR)
- UniSTS:377923

REN53124 (e-PCR)
- UniSTS:377924

REN53125 (e-PCR)
- UniSTS:377925

ECD16271 (e-PCR)
- UniSTS:297286

REN53126 (e-PCR)
- UniSTS:377926

REN53127 (e-PCR)
- UniSTS:377927

REN53128 (e-PCR)
- UniSTS:377928

REN53129 (e-PCR)
- UniSTS:377929

REN53130 (e-PCR)
- UniSTS:377930

REN53131 (e-PCR)
- UniSTS:377931

REN53132 (e-PCR)
- UniSTS:377932

REN53133 (e-PCR)
- UniSTS:377933

ECD01880 (e-PCR)
- UniSTS:282981

stSG633042 (e-PCR)
- UniSTS:460399

stSG633043 (e-PCR)
- UniSTS:460400

ECD03194 (e-PCR)
- UniSTS:284279

ECD00873 (e-PCR)
- UniSTS:281982

D2S1608E (e-PCR)
- UniSTS:150686

A007H40 (e-PCR)
- UniSTS:15539

ECD09727 (e-PCR)
- UniSTS:290768

SHGC-145814 (e-PCR)
- UniSTS:174809

MARC_7531-7532:996687912:1 (e-PCR)
- UniSTS:269788

ECD03036 (e-PCR)
- UniSTS:284124

ECD02779 (e-PCR)
- UniSTS:283873

RH98301 (e-PCR)
- UniSTS:83686

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables enzyme inhibitor activity	IDA Inferred from Direct Assay more info	PubMed
NOT enables mannose-1-phosphate guanylyltransferase (GTP) activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in GDP-mannose biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in GDP-mannose metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cognition	IEA Inferred from Electronic Annotation more info
involved_in motor behavior	IEA Inferred from Electronic Annotation more info
involved_in muscle organ morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of nucleobase-containing compound metabolic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of phosphate metabolic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of small molecule metabolic process	IEA Inferred from Electronic Annotation more info
involved_in neuromuscular process	IEA Inferred from Electronic Annotation more info
involved_in neuron apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in protein glycosylation	IEA Inferred from Electronic Annotation more info
involved_in skeletal muscle organ development	IEA Inferred from Electronic Annotation more info
involved_in telencephalon development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of GDP-mannose pyrophosphorylase complex	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed

General protein information

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Preferred Names: mannose-1-phosphate guanylyltransferase regulatory subunit alpha; mannose-1-phosphate guanyltransferase alpha

Names: GMPP-alpha; GTP-mannose-1-phosphate guanylyltransferase alpha; epididymis secretory sperm binding protein; mannose-1-phosphate guanylyltransferase (GDP)

NP_001361223.1

EC 2.7.7.13

NP_001361224.1

EC 2.7.7.13

NP_037467.2

EC 2.7.7.13

NP_995319.1

EC 2.7.7.13

XP_047299979.1

EC 2.7.7.13

XP_047299980.1

EC 2.7.7.13

XP_047299981.1

EC 2.7.7.13

XP_047299982.1

EC 2.7.7.13

XP_047299983.1

EC 2.7.7.13

XP_047299984.1

EC 2.7.7.13

XP_047299985.1

EC 2.7.7.13

XP_047299986.1

EC 2.7.7.13

XP_047299987.1

EC 2.7.7.13

XP_047299988.1

EC 2.7.7.13

XP_047299989.1

EC 2.7.7.13

XP_054197529.1

EC 2.7.7.13

XP_054197530.1

EC 2.7.7.13

XP_054197531.1

EC 2.7.7.13

XP_054197532.1

EC 2.7.7.13

XP_054197533.1

EC 2.7.7.13

XP_054197534.1

EC 2.7.7.13

XP_054197535.1

EC 2.7.7.13

XP_054197536.1

EC 2.7.7.13

XP_054197537.1

EC 2.7.7.13

XP_054197538.1

EC 2.7.7.13

XP_054197539.1

EC 2.7.7.13

NCBI Reference Sequences (RefSeq)

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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.

Genomic

NG_033833.1 RefSeqGene

Range

5027..13125

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001374294.1 → NP_001361223.1 mannose-1-phosphate guanylyltransferase regulatory subunit alpha

Status: REVIEWED

Source sequence(s)

AC053503

Consensus CDS

CCDS2441.1

UniProtKB/Swiss-Prot

A6NJ74, A8K3Q6, B3KMT4, Q53GI0, Q96IJ6, Q9NWC3, Q9Y5P5

UniProtKB/TrEMBL

A0A024R482, A0A087WUI8, A0A384MDS7

Related

ENSP00000363016.1, ENST00000373908.5

Conserved Domains (2) summary

cd06428
Location:4 → 261

M1P_guanylylT_A_like_N; N-terminal domain of M1P_guanylyl_A_ like proteins are likely to be a isoform of GDP-mannose pyrophosphorylase

cl00160
Location:289 → 355

LbetaH; Left-handed parallel beta-Helix (LbetaH or LbH) domain: The alignment contains 5 turns, each containing three imperfect tandem repeats of a hexapeptide repeat motif (X-[STAV]-X-[LIV]-[GAED]-X). Proteins containing hexapeptide repeats are often enzymes ...
NM_001374295.1 → NP_001361224.1 mannose-1-phosphate guanylyltransferase regulatory subunit alpha

Status: REVIEWED

Source sequence(s)

AC053503

Consensus CDS

CCDS2441.1

UniProtKB/Swiss-Prot

A6NJ74, A8K3Q6, B3KMT4, Q53GI0, Q96IJ6, Q9NWC3, Q9Y5P5

UniProtKB/TrEMBL

A0A024R482, A0A087WUI8, A0A384MDS7

Related

ENSP00000478700.2, ENST00000622191.2

Conserved Domains (2) summary

cd06428
Location:4 → 261

M1P_guanylylT_A_like_N; N-terminal domain of M1P_guanylyl_A_ like proteins are likely to be a isoform of GDP-mannose pyrophosphorylase

cl00160
Location:289 → 355

LbetaH; Left-handed parallel beta-Helix (LbetaH or LbH) domain: The alignment contains 5 turns, each containing three imperfect tandem repeats of a hexapeptide repeat motif (X-[STAV]-X-[LIV]-[GAED]-X). Proteins containing hexapeptide repeats are often enzymes ...
NM_013335.4 → NP_037467.2 mannose-1-phosphate guanylyltransferase regulatory subunit alpha

See identical proteins and their annotated locations for NP_037467.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) uses two different splice sites in the 5' UTR, compared to variant 2. Variants 1 and 2 encode the same protein.

Source sequence(s)

AC053503, AK000999, CN309976

Consensus CDS

CCDS2441.1

UniProtKB/Swiss-Prot

A6NJ74, A8K3Q6, B3KMT4, Q53GI0, Q96IJ6, Q9NWC3, Q9Y5P5

UniProtKB/TrEMBL

A0A024R482, A0A087WUI8, A0A384MDS7

Related

ENSP00000315925.6, ENST00000313597.10

Conserved Domains (2) summary

cd06428
Location:4 → 261

M1P_guanylylT_A_like_N; N-terminal domain of M1P_guanylyl_A_ like proteins are likely to be a isoform of GDP-mannose pyrophosphorylase

cl00160
Location:289 → 355

LbetaH; Left-handed parallel beta-Helix (LbetaH or LbH) domain: The alignment contains 5 turns, each containing three imperfect tandem repeats of a hexapeptide repeat motif (X-[STAV]-X-[LIV]-[GAED]-X). Proteins containing hexapeptide repeats are often enzymes ...
NM_205847.3 → NP_995319.1 mannose-1-phosphate guanylyltransferase regulatory subunit alpha

See identical proteins and their annotated locations for NP_995319.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) represents the longer transcript. Variants 1 and 2 encode the same protein.

Source sequence(s)

AC053503, AK022578, BC007456, BP284488, CN309976

Consensus CDS

CCDS2441.1

UniProtKB/Swiss-Prot

A6NJ74, A8K3Q6, B3KMT4, Q53GI0, Q96IJ6, Q9NWC3, Q9Y5P5

UniProtKB/TrEMBL

A0A024R482, A0A087WUI8, A0A384MDS7

Related

ENSP00000350949.3, ENST00000358215.8

Conserved Domains (2) summary

cd06428
Location:4 → 261

M1P_guanylylT_A_like_N; N-terminal domain of M1P_guanylyl_A_ like proteins are likely to be a isoform of GDP-mannose pyrophosphorylase

cl00160
Location:289 → 355

LbetaH; Left-handed parallel beta-Helix (LbetaH or LbH) domain: The alignment contains 5 turns, each containing three imperfect tandem repeats of a hexapeptide repeat motif (X-[STAV]-X-[LIV]-[GAED]-X). Proteins containing hexapeptide repeats are often enzymes ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

219498891..219506989

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047444026.1 → XP_047299982.1 mannose-1-phosphate guanyltransferase alpha isoform X1
XM_047444025.1 → XP_047299981.1 mannose-1-phosphate guanyltransferase alpha isoform X1
XM_047444029.1 → XP_047299985.1 mannose-1-phosphate guanyltransferase alpha isoform X2
XM_047444023.1 → XP_047299979.1 mannose-1-phosphate guanyltransferase alpha isoform X1
XM_047444030.1 → XP_047299986.1 mannose-1-phosphate guanyltransferase alpha isoform X3
XM_047444027.1 → XP_047299983.1 mannose-1-phosphate guanyltransferase alpha isoform X2

Related

ENSP00000363027.3, ENST00000373917.7
XM_047444024.1 → XP_047299980.1 mannose-1-phosphate guanyltransferase alpha isoform X1
XM_047444028.1 → XP_047299984.1 mannose-1-phosphate guanyltransferase alpha isoform X2
XM_047444032.1 → XP_047299988.1 mannose-1-phosphate guanyltransferase alpha isoform X5

Related

ENSP00000396750.1, ENST00000443704.5
XM_047444033.1 → XP_047299989.1 mannose-1-phosphate guanyltransferase alpha isoform X6

Related

ENSP00000508279.1, ENST00000682102.1
XM_047444031.1 → XP_047299987.1 mannose-1-phosphate guanyltransferase alpha isoform X4

Alternate T2T-CHM13v2.0

Genomic

NC_060926.1 Alternate T2T-CHM13v2.0

Range

219983636..219991734

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054341557.1 → XP_054197532.1 mannose-1-phosphate guanyltransferase alpha isoform X1
XM_054341556.1 → XP_054197531.1 mannose-1-phosphate guanyltransferase alpha isoform X1
XM_054341560.1 → XP_054197535.1 mannose-1-phosphate guanyltransferase alpha isoform X2
XM_054341554.1 → XP_054197529.1 mannose-1-phosphate guanyltransferase alpha isoform X1
XM_054341561.1 → XP_054197536.1 mannose-1-phosphate guanyltransferase alpha isoform X3
XM_054341558.1 → XP_054197533.1 mannose-1-phosphate guanyltransferase alpha isoform X2
XM_054341555.1 → XP_054197530.1 mannose-1-phosphate guanyltransferase alpha isoform X1
XM_054341559.1 → XP_054197534.1 mannose-1-phosphate guanyltransferase alpha isoform X2
XM_054341563.1 → XP_054197538.1 mannose-1-phosphate guanyltransferase alpha isoform X5
XM_054341564.1 → XP_054197539.1 mannose-1-phosphate guanyltransferase alpha isoform X6
XM_054341562.1 → XP_054197537.1 mannose-1-phosphate guanyltransferase alpha isoform X4