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POMT1 protein O-mannosyltransferase 1 [ Homo sapiens (human) ]

Gene ID: 10585, updated on 3-Apr-2024

Summary

Official Symbol
POMT1provided by HGNC
Official Full Name
protein O-mannosyltransferase 1provided by HGNC
Primary source
HGNC:HGNC:9202
See related
Ensembl:ENSG00000130714 MIM:607423; AllianceGenome:HGNC:9202
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
RT; LGMD2K; MDDGA1; MDDGB1; MDDGC1; LGMDR11
Summary
The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT2 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS) and limb-girdle muscular dystrophy type 2K (LGMD2K). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2008]
Expression
Broad expression in testis (RPKM 20.7), brain (RPKM 7.5) and 25 other tissues See more
Orthologs
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Genomic context

Location:
9q34.13
Exon count:
21
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (131502918..131523799)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (143715812..143736761)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (134378305..134399186)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene proline rich coiled-coil 2B Neighboring gene uncharacterized LOC124902290 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr9:134375403-134376602 Neighboring gene small nucleolar RNA, C/D box 62B Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:134378091-134378958 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:134378959-134379824 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29192 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:134388206-134388706 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:134388707-134389207 Neighboring gene uncharacterized LOC105376301 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr9:134403902-134405101 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:134405807-134406720 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20421 Neighboring gene uridine-cytidine kinase 1 Neighboring gene NANOG hESC enhancer GRCh37_chr9:134426802-134427303 Neighboring gene proline rich transmembrane protein 1B

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 Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ37239

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables dolichyl-phosphate-mannose-protein mannosyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
enables mannosyltransferase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in extracellular matrix organization IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of protein O-linked glycosylation IEA
Inferred from Electronic Annotation
more info
 
involved_in protein O-linked glycosylation TAS
Traceable Author Statement
more info
PubMed 
involved_in protein O-linked mannosylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in acrosomal vesicle IEA
Inferred from Electronic Annotation
more info
 
located_in endoplasmic reticulum TAS
Traceable Author Statement
more info
PubMed 
located_in endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
located_in membrane TAS
Traceable Author Statement
more info
PubMed 
located_in sarcoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
protein O-mannosyl-transferase 1
Names
dolichyl-phosphate-mannose--protein mannosyltransferase 1
testis tissue sperm-binding protein Li 57p
NP_001070833.1
NP_001070834.1
NP_001129585.1
NP_001129586.1
NP_001340122.2
NP_001340123.1
NP_001340124.1
NP_001340125.1
NP_001340126.2
NP_001340127.2
NP_001340128.2
NP_001340129.1
NP_001361618.1
NP_001361619.1
NP_001361620.1
NP_001361621.1
NP_001361622.1
NP_001361624.1
NP_001397953.1
NP_009102.4
XP_011516442.1
XP_011516443.1
XP_011516444.1
XP_011516445.1
XP_011516447.1
XP_047278596.1
XP_047278597.1
XP_047278598.1
XP_054217734.1
XP_054217735.1
XP_054217736.1
XP_054217737.1
XP_054217738.1
XP_054217739.1
XP_054217740.1
XP_054217741.1

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

  1. NG_008896.2 RefSeqGene

    Range
    5017..25898
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_842

mRNA and Protein(s)

  1. NM_001077365.2NP_001070833.1  protein O-mannosyl-transferase 1 isoform b

    See identical proteins and their annotated locations for NP_001070833.1

    Status: REVIEWED

    Source sequence(s)
    AL358781
    Consensus CDS
    CCDS43894.1
    UniProtKB/TrEMBL
    A0A140VKE0, A0A1V1FTP4
    Related
    ENSP00000385797.4, ENST00000402686.8
    Conserved Domains (4) summary
    smart00472
    Location:299356
    MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
    COG1928
    Location:14720
    PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]
    pfam02366
    Location:20267
    PMT; Dolichyl-phosphate-mannose-protein mannosyltransferase
    pfam16192
    Location:520718
    PMT_4TMC; C-terminal four TMM region of protein-O-mannosyltransferase
  2. NM_001077366.2NP_001070834.1  protein O-mannosyl-transferase 1 isoform c

    Status: REVIEWED

    Source sequence(s)
    AL358781
    Consensus CDS
    CCDS43895.1
    UniProtKB/TrEMBL
    B4DEA0
    Related
    ENSP00000343034.7, ENST00000341012.13
    Conserved Domains (1) summary
    COG1928
    Location:6666
    PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]
  3. NM_001136113.2NP_001129585.1  protein O-mannosyl-transferase 1 isoform b

    See identical proteins and their annotated locations for NP_001129585.1

    Status: REVIEWED

    Source sequence(s)
    AL358781
    Consensus CDS
    CCDS43894.1
    UniProtKB/TrEMBL
    A0A140VKE0, A0A1V1FTP4
    Related
    ENSP00000503281.1, ENST00000676640.1
    Conserved Domains (4) summary
    smart00472
    Location:299356
    MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
    COG1928
    Location:14720
    PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]
    pfam02366
    Location:20267
    PMT; Dolichyl-phosphate-mannose-protein mannosyltransferase
    pfam16192
    Location:520718
    PMT_4TMC; C-terminal four TMM region of protein-O-mannosyltransferase
  4. NM_001136114.2NP_001129586.1  protein O-mannosyl-transferase 1 isoform d

    Status: REVIEWED

    Source sequence(s)
    AL358781
    Consensus CDS
    CCDS48045.1
    UniProtKB/TrEMBL
    B4DEA0
    Related
    ENSP00000503772.1, ENST00000677216.1
    Conserved Domains (1) summary
    COG1928
    Location:2603
    PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]
  5. NM_001353193.2NP_001340122.2  protein O-mannosyl-transferase 1 isoform a

    Status: REVIEWED

    Source sequence(s)
    AL358781
    Consensus CDS
    CCDS6943.1
    UniProtKB/Swiss-Prot
    B3KQG0, B4DIF0, Q5JT01, Q5JT06, Q5JT08, Q8NC91, Q8TCA9, Q9NX32, Q9NX82, Q9UNT2, Q9Y6A1
    UniProtKB/TrEMBL
    A0A1V1FTP4
    Conserved Domains (1) summary
    COG1928
    Location:14742
    PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]
  6. NM_001353194.2NP_001340123.1  protein O-mannosyl-transferase 1 isoform c

    Status: REVIEWED

    Source sequence(s)
    AL358781
    Consensus CDS
    CCDS43895.1
    UniProtKB/TrEMBL
    B4DEA0
    Conserved Domains (1) summary
    COG1928
    Location:6666
    PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]
  7. NM_001353195.2NP_001340124.1  protein O-mannosyl-transferase 1 isoform d

    Status: REVIEWED

    Source sequence(s)
    AL358781
    Consensus CDS
    CCDS48045.1
    UniProtKB/TrEMBL
    B4DEA0
    Conserved Domains (1) summary
    COG1928
    Location:2603
    PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]
  8. NM_001353196.2NP_001340125.1  protein O-mannosyl-transferase 1 isoform e

    Status: REVIEWED

    Source sequence(s)
    AL358781
    Consensus CDS
    CCDS94516.1
    UniProtKB/TrEMBL
    A0A1V1FTP4, B4DTW4
    Related
    ENSP00000503696.1, ENST00000678303.1
    Conserved Domains (1) summary
    COG1928
    Location:14690
    PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]
  9. NM_001353197.2NP_001340126.2  protein O-mannosyl-transferase 1 isoform f

    Status: REVIEWED

    Source sequence(s)
    AL358781
    UniProtKB/TrEMBL
    A0A1V1FTP4
    Conserved Domains (1) summary
    COG1928
    Location:6688
    PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]
  10. NM_001353198.2NP_001340127.2  protein O-mannosyl-transferase 1 isoform f

    Status: REVIEWED

    Source sequence(s)
    AL358781
    UniProtKB/TrEMBL
    A0A1V1FTP4
    Conserved Domains (1) summary
    COG1928
    Location:6688
    PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]
  11. NM_001353199.2NP_001340128.2  protein O-mannosyl-transferase 1 isoform g

    Status: REVIEWED

    Source sequence(s)
    AL358781
    UniProtKB/TrEMBL
    B4DEA0
    Conserved Domains (1) summary
    COG1928
    Location:2625
    PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]
  12. NM_001353200.2NP_001340129.1  protein O-mannosyl-transferase 1 isoform h

    Status: REVIEWED

    Source sequence(s)
    AL358781
    Consensus CDS
    CCDS94518.1
    UniProtKB/TrEMBL
    A0A7I2V2K0, B4DSA5
    Related
    ENSP00000502936.1, ENST00000677029.1
    Conserved Domains (1) summary
    cl25703
    Location:2568
    PMT_4TMC; C-terminal four TMM region of protein-O-mannosyltransferase
  13. NM_001374689.1NP_001361618.1  protein O-mannosyl-transferase 1 isoform l

    Status: REVIEWED

    Source sequence(s)
    AL358781
    Conserved Domains (1) summary
    COG1928
    Location:6716
    PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]
  14. NM_001374690.1NP_001361619.1  protein O-mannosyl-transferase 1 isoform i

    Status: REVIEWED

    Source sequence(s)
    AL358781
    UniProtKB/TrEMBL
    A0A1V1FTP4
    Conserved Domains (1) summary
    COG1928
    Location:14647
    PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]
  15. NM_001374691.1NP_001361620.1  protein O-mannosyl-transferase 1 isoform d

    Status: REVIEWED

    Source sequence(s)
    AL358781
    Consensus CDS
    CCDS48045.1
    UniProtKB/TrEMBL
    B4DEA0
    Related
    ENSP00000503356.1, ENST00000679189.1
    Conserved Domains (1) summary
    COG1928
    Location:2603
    PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]
  16. NM_001374692.1NP_001361621.1  protein O-mannosyl-transferase 1 isoform d

    Status: REVIEWED

    Source sequence(s)
    AL358781
    Consensus CDS
    CCDS48045.1
    UniProtKB/TrEMBL
    B4DEA0
    Conserved Domains (1) summary
    COG1928
    Location:2603
    PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]
  17. NM_001374693.1NP_001361622.1  protein O-mannosyl-transferase 1 isoform j

    Status: REVIEWED

    Source sequence(s)
    AL358781
    Consensus CDS
    CCDS94517.1
    UniProtKB/TrEMBL
    A0A1V1FTP4, A0A7I2V445
    Related
    ENSP00000503552.1, ENST00000677626.1
    Conserved Domains (1) summary
    COG1928
    Location:6603
    PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]
  18. NM_001374695.1NP_001361624.1  protein O-mannosyl-transferase 1 isoform k

    Status: REVIEWED

    Source sequence(s)
    AL358781
    UniProtKB/TrEMBL
    B4DSA5
    Conserved Domains (1) summary
    COG1928
    Location:2590
    PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]
  19. NM_001411024.1NP_001397953.1  protein O-mannosyl-transferase 1 isoform m

    Status: REVIEWED

    Source sequence(s)
    AL358781
    Consensus CDS
    CCDS94519.1
    UniProtKB/TrEMBL
    Q5JT02
    Related
    ENSP00000361294.5, ENST00000372220.5
  20. NM_007171.4NP_009102.4  protein O-mannosyl-transferase 1 isoform a

    Status: REVIEWED

    Source sequence(s)
    AL358781
    Consensus CDS
    CCDS6943.1
    UniProtKB/Swiss-Prot
    B3KQG0, B4DIF0, Q5JT01, Q5JT06, Q5JT08, Q8NC91, Q8TCA9, Q9NX32, Q9NX82, Q9UNT2, Q9Y6A1
    UniProtKB/TrEMBL
    A0A1V1FTP4
    Related
    ENSP00000361302.3, ENST00000372228.9
    Conserved Domains (1) summary
    COG1928
    Location:14742
    PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]

RNA

  1. NR_148391.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL358781
  2. NR_148392.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL358781
  3. NR_148393.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL358781
  4. NR_148394.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL358781
    Related
    ENST00000678833.1
  5. NR_148395.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL358781
    Related
    ENST00000679111.1
  6. NR_148396.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL358781
  7. NR_148397.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL358781
    Related
    ENST00000677099.1
  8. NR_148398.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL358781
    Related
    ENST00000677853.1
  9. NR_148399.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL358781
  10. NR_148400.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL358781
    Related
    ENST00000678626.1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    131502918..131523799
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011518140.3XP_011516442.1  protein O-mannosyl-transferase 1 isoform X1

    UniProtKB/TrEMBL
    A0A1V1FTP4
    Conserved Domains (4) summary
    smart00472
    Location:272329
    MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
    COG1928
    Location:14693
    PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]
    pfam02366
    Location:20240
    PMT; Dolichyl-phosphate-mannose-protein mannosyltransferase
    pfam16192
    Location:493691
    PMT_4TMC; C-terminal four TMM region of protein-O-mannosyltransferase
  2. XM_011518141.3XP_011516443.1  protein O-mannosyl-transferase 1 isoform X2

    UniProtKB/TrEMBL
    A0A1V1FTP4
    Conserved Domains (4) summary
    smart00472
    Location:250307
    MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
    COG1928
    Location:14671
    PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]
    pfam02366
    Location:20218
    PMT; Dolichyl-phosphate-mannose-protein mannosyltransferase
    pfam16192
    Location:471669
    PMT_4TMC; C-terminal four TMM region of protein-O-mannosyltransferase
  3. XM_011518143.3XP_011516445.1  protein O-mannosyl-transferase 1 isoform X4

    Conserved Domains (2) summary
    smart00472
    Location:287344
    MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
    pfam16192
    Location:437635
    PMT_4TMC; C-terminal four TMM region of protein-O-mannosyltransferase
  4. XM_011518142.3XP_011516444.1  protein O-mannosyl-transferase 1 isoform X3

    UniProtKB/TrEMBL
    B4DSA5
    Conserved Domains (4) summary
    smart00472
    Location:218275
    MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
    COG1928
    Location:6639
    PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]
    pfam02366
    Location:1186
    PMT; Dolichyl-phosphate-mannose-protein mannosyltransferase
    pfam16192
    Location:439637
    PMT_4TMC; C-terminal four TMM region of protein-O-mannosyltransferase
  5. XM_047422640.1XP_047278596.1  protein O-mannosyl-transferase 1 isoform X5

  6. XM_011518145.3XP_011516447.1  protein O-mannosyl-transferase 1 isoform X7

    UniProtKB/TrEMBL
    B4DSA5
    Conserved Domains (1) summary
    COG1928
    Location:2590
    PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]
  7. XM_047422641.1XP_047278597.1  protein O-mannosyl-transferase 1 isoform X6

  8. XM_047422642.1XP_047278598.1  protein O-mannosyl-transferase 1 isoform X8

RNA

  1. XR_001746160.3 RNA Sequence

  2. XR_007061226.1 RNA Sequence

  3. XR_007061227.1 RNA Sequence

  4. XR_007061228.1 RNA Sequence

  5. XR_007061229.1 RNA Sequence

  6. XR_007061230.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    143715812..143736761
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054361759.1XP_054217734.1  protein O-mannosyl-transferase 1 isoform X1

  2. XM_054361760.1XP_054217735.1  protein O-mannosyl-transferase 1 isoform X2

  3. XM_054361762.1XP_054217737.1  protein O-mannosyl-transferase 1 isoform X4

  4. XM_054361761.1XP_054217736.1  protein O-mannosyl-transferase 1 isoform X3

  5. XM_054361763.1XP_054217738.1  protein O-mannosyl-transferase 1 isoform X5

  6. XM_054361765.1XP_054217740.1  protein O-mannosyl-transferase 1 isoform X7

  7. XM_054361764.1XP_054217739.1  protein O-mannosyl-transferase 1 isoform X6

  8. XM_054361766.1XP_054217741.1  protein O-mannosyl-transferase 1 isoform X8

RNA

  1. XR_008487925.1 RNA Sequence

  2. XR_008487926.1 RNA Sequence

  3. XR_008487927.1 RNA Sequence

  4. XR_008487928.1 RNA Sequence

  5. XR_008487929.1 RNA Sequence

  6. XR_008487930.1 RNA Sequence