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MPDU1 mannose-P-dolichol utilization defect 1 [ Homo sapiens (human) ]

Gene ID: 9526, updated on 17-Jun-2019

Summary

Official Symbol
MPDU1provided by HGNC
Official Full Name
mannose-P-dolichol utilization defect 1provided by HGNC
Primary source
HGNC:HGNC:7207
See related
Ensembl:ENSG00000129255 MIM:604041
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
SL15; CDGIF; Lec35; My008; PQLC5; PP3958; SLC66A5; HBEBP2BPA
Summary
This gene encodes an endoplasmic reticulum membrane protein that is required for utilization of the mannose donor mannose-P-dolichol in the synthesis of lipid-linked oligosaccharides and glycosylphosphatidylinositols. Mutations in this gene result in congenital disorder of glycosylation type If. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]
Expression
Ubiquitous expression in colon (RPKM 20.5), duodenum (RPKM 20.5) and 25 other tissues See more
Orthologs

Genomic context

See MPDU1 in Genome Data Viewer
Location:
17p13.1
Exon count:
7
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (7583647..7588212)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (7486965..7491530)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene SENP3-EIF4A1 readthrough (NMD candidate) Neighboring gene eukaryotic translation initiation factor 4A1 Neighboring gene uncharacterized LOC100996842 Neighboring gene small nucleolar RNA, H/ACA box 67 Neighboring gene CD68 molecule Neighboring gene SRY-box transcription factor 15 Neighboring gene FMR1 autosomal homolog 2 Neighboring gene transfer RNA-undetermined (NNN) 6-1 Neighboring gene sex hormone binding globulin

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Congenital disorder of glycosylation type 1F
MedGen: C1836669 OMIM: 609180 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide association study in Han Chinese identifies multiple susceptibility loci for IgA nephropathy.
NHGRI GWA Catalog
Genome-wide association study of sex hormones, gonadotropins and sex hormone-binding protein in Chinese men.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ14836

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
dolichol-linked oligosaccharide biosynthetic process TAS
Traceable Author Statement
more info
PubMed 
oligosaccharide biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oligosaccharide biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
oligosaccharide biosynthetic process IGI
Inferred from Genetic Interaction
more info
PubMed 
protein folding NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
endoplasmic reticulum membrane NAS
Non-traceable Author Statement
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane HDA PubMed 

General protein information

Preferred Names
mannose-P-dolichol utilization defect 1 protein
Names
HBeAg-binding protein 2 binding protein A
suppressor of Lec15 and Lec35 glycosylation mutation homolog

NCBI Reference Sequences (RefSeq)

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

  1. NG_009204.1 RefSeqGene

    Range
    5001..9566
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001330073.1NP_001317002.1  mannose-P-dolichol utilization defect 1 protein isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site and lacks an alternate exon in the 3' coding region, resulting in a frameshift and an early stop codon compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC016876, AF038961, BQ002417, BX422669, DC421138
    Consensus CDS
    CCDS82054.1
    UniProtKB/Swiss-Prot
    O75352
    UniProtKB/TrEMBL
    J3QW43
    Related
    ENSP00000379758.4, ENST00000396501.8
    Conserved Domains (1) summary
    TIGR00951
    Location:40130
    2A43; Lysosomal Cystine Transporter
  2. NM_004870.4NP_004861.2  mannose-P-dolichol utilization defect 1 protein isoform 1

    See identical proteins and their annotated locations for NP_004861.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
    Source sequence(s)
    BC001898, BG776573, BM127836, BQ002417
    Consensus CDS
    CCDS11115.1
    UniProtKB/Swiss-Prot
    O75352
    UniProtKB/TrEMBL
    A0A0S2Z4W8
    Related
    ENSP00000250124.6, ENST00000250124.11
    Conserved Domains (1) summary
    TIGR00951
    Location:40235
    2A43; Lysosomal Cystine Transporter

RNA

  1. NR_024603.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 5' coding region that causes a frameshift and early stop codon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK300140, BG776573, BM127836, BQ002417, DC421138

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    7583647..7588212
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024451040.1XP_024306808.1  mannose-P-dolichol utilization defect 1 protein isoform X3

    Conserved Domains (1) summary
    TIGR00951
    Location:2126
    2A43; Lysosomal Cystine Transporter
  2. XM_006721598.3XP_006721661.1  mannose-P-dolichol utilization defect 1 protein isoform X2

    See identical proteins and their annotated locations for XP_006721661.1

    UniProtKB/TrEMBL
    B4DLH7
    Conserved Domains (2) summary
    TIGR00951
    Location:40168
    2A43; Lysosomal Cystine Transporter
    pfam04193
    Location:43101
    PQ-loop; PQ loop repeat
  3. XM_006721597.2XP_006721660.1  mannose-P-dolichol utilization defect 1 protein isoform X1

    See identical proteins and their annotated locations for XP_006721660.1

    Conserved Domains (1) summary
    pfam04193
    Location:43101
    PQ-loop; PQ loop repeat
  4. XM_011524081.2XP_011522383.1  mannose-P-dolichol utilization defect 1 protein isoform X3

    See identical proteins and their annotated locations for XP_011522383.1

    Conserved Domains (1) summary
    TIGR00951
    Location:2126
    2A43; Lysosomal Cystine Transporter
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