Human (GRCh38.p14)
Description

mannose-P-dolichol utilization defect 1 [Source:HGNC Symbol;Acc:HGNC:7207]

Gene Synonyms

CDGIF, LEC35, PQLC5, SL15, SLC66A5

Location

Chromosome 17: 7,583,529-7,592,789 forward strand.

GRCh38:CM000679.2

About this gene

This gene has 27 transcripts (splice variants), 252 orthologues, 1 paralogue and is associated with 3 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000250124.11MPDU1-2011416247aaENSP00000250124.6
 
Protein coding
CCDS11115O75352-1 NM_004870.4MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P1TSL:1
ENST00000396501.8MPDU1-2031125192aaENSP00000379758.4
 
Protein coding
CCDS82054J3QW43 -GENCODE basicTSL:2
ENST00000423172.6MPDU1-204888186aaENSP00000414071.2
 
Protein coding
O75352-2 -GENCODE basicTSL:2
ENST00000582151.1MPDU1-22372852aaENSP00000462500.1
 
Protein coding
J3KSI4 -GENCODE basicTSL:NA
ENST00000579445.5MPDU1-218582193aaENSP00000464158.1
 
Protein coding
J3QRD5 -TSL:3CDS 3' incomplete
ENST00000584378.5MPDU1-224475154aaENSP00000462839.1
 
Protein coding
J3KT75 -TSL:4CDS 3' incomplete
ENST00000581380.1MPDU1-221456152aaENSP00000463966.1
 
Protein coding
J3QQZ4 -TSL:3CDS 5' and 3' incomplete
ENST00000585217.5MPDU1-227438116aaENSP00000463037.1
 
Protein coding
J3KTK8 -TSL:3CDS 5' incomplete
ENST00000572936.5MPDU1-211110261aaENSP00000459306.1
 
Nonsense mediated decay
I3L1D2 -TSL:5
ENST00000571822.5MPDU1-207102061aaENSP00000458741.1
 
Nonsense mediated decay
I3L1D2 -TSL:2
ENST00000572719.5MPDU1-209917109aaENSP00000459498.1
 
Nonsense mediated decay
I3L295 -TSL:5
ENST00000574558.1MPDU1-21290032aaENSP00000461499.1
 
Nonsense mediated decay
I3L4T1 -TSL:3CDS 5' incomplete
ENST00000359822.10MPDU1-20284061aaENSP00000352876.6
 
Nonsense mediated decay
I3L1D2 -TSL:3
ENST00000576272.5MPDU1-21580954aaENSP00000460864.1
 
Nonsense mediated decay
I3L405 -TSL:2CDS 5' incomplete
ENST00000580834.5MPDU1-220714109aaENSP00000463056.1
 
Nonsense mediated decay
I3L295 -TSL:5
ENST00000570458.5MPDU1-20559161aaENSP00000459409.1
 
Nonsense mediated decay
I3L261 -TSL:3CDS 5' incomplete
ENST00000584479.5MPDU1-225572109aaENSP00000462229.1
 
Nonsense mediated decay
I3L295 -TSL:2
ENST00000580708.5MPDU1-219563101aaENSP00000464524.1
 
Nonsense mediated decay
J3QS48 -TSL:5
ENST00000576066.5MPDU1-21449175aaENSP00000461183.1
 
Nonsense mediated decay
I3L4E0 -TSL:3
ENST00000577088.5MPDU1-2161645No protein-
 
Retained intron
--TSL:2
ENST00000572836.5MPDU1-2101523No protein-
 
Retained intron
--TSL:2
ENST00000571877.1MPDU1-2081195No protein-
 
Retained intron
--TSL:1
ENST00000581886.5MPDU1-222924No protein-
 
Retained intron
--TSL:3
ENST00000585188.5MPDU1-226863No protein-
 
Retained intron
--TSL:3
ENST00000571391.5MPDU1-206677No protein-
 
Retained intron
--TSL:2
ENST00000578267.5MPDU1-217582No protein-
 
Retained intron
--TSL:3
ENST00000575256.1MPDU1-213392No protein-
 
Retained intron
--TSL:3