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    PIGN phosphatidylinositol glycan anchor biosynthesis class N [ Homo sapiens (human) ]

    Gene ID: 23556, updated on 10-Dec-2024

    Summary

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    Official Symbol
    PIGNprovided by HGNC
    Official Full Name
    phosphatidylinositol glycan anchor biosynthesis class Nprovided by HGNC
    Primary source
    HGNC:HGNC:8967
    See related
    Ensembl:ENSG00000197563 MIM:606097; AllianceGenome:HGNC:8967
    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
    MCD4; MDC4; MCAHS; PIG-N; MCAHS1
    Summary
    This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is expressed in the endoplasmic reticulum and transfers phosphoethanolamine (EtNP) to the first mannose of the GPI anchor. Two alternatively spliced variants, which encode an identical isoform, have been reported. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in esophagus (RPKM 8.5), thyroid (RPKM 7.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PIGN in Genome Data Viewer
    Location:
    18q21.33
    Exon count:
    34
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (62017615..62187056, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (62220799..62389993, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (59708397..59854289, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372159 Neighboring gene uncharacterized LOC112268209 Neighboring gene Sharpr-MPRA regulatory region 15585 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9501 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_48468 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_48472 Neighboring gene ribose 5-phosphate isomerase A pseudogene 1 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:59667958-59668797 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:59668798-59669636 Neighboring gene Sharpr-MPRA regulatory region 1275 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_48670 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_48690 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_48726/48728 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_48738 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_48746 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:59853791-59854003 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13429 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9502 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_48887 Neighboring gene RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9503 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_48897 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:59957531-59957709 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9504 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9505 Neighboring gene TNF receptor superfamily member 11a Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr18:60034196-60034732 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9506 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr18:60041621-60042250

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. PIGN-Related Disease in Two Lithuanian Families: A Report of Two Novel Pathogenic Variants, Molecular and Clinical Characterisation. Siavrienė E, et al. Medicina (Kaunas), 2022 Oct 26. PMID 36363484, Free PMC Article
    2. Fryns Syndrome. Adam MP, et al. , 1993. PMID 20301632
    3. Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN. Maydan G, et al. J Med Genet, 2011 Jun. PMID 21493957
    4. PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy. Ohba C, et al. Neurogenetics, 2014 May. PMID 24253414
    5. A PIGN mutation responsible for multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) in an Israeli-Arab family. Khayat M, et al. Am J Med Genet A, 2016 Jan. PMID 26364997, Free PMC Article

    See all (43) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. PIGN-Related Disease in Two Lithuanian Families: A Report of Two Novel Pathogenic Variants, Molecular and Clinical Characterisation.
      Title: PIGN-Related Disease in Two Lithuanian Families: A Report of Two Novel Pathogenic Variants, Molecular and Clinical Characterisation.
    2. Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.
      Title: Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.
    3. PIGN spatiotemporally regulates the spindle assembly checkpoint proteins in leukemia transformation and progression.
      Title: PIGN spatiotemporally regulates the spindle assembly checkpoint proteins in leukemia transformation and progression.
    4. Novel insights into the clinico-radiological spectrum of phenotypes associated to PIGN mutations.
      Title: Novel insights into the clinico-radiological spectrum of phenotypes associated to PIGN mutations.
    5. Loss of function PIGN alleles causes Fryns syndrome. Founder effect for PIGN intragenic deletion is observed in La Reunion and other Indian Ocean islands.
      Title: Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome.
    6. PIGN is a novel biomarker of CIN and leukemic transformation/progression in a subgroup of patients with MDS or AML-MRC.
      Title: PIGN gene expression aberration is associated with genomic instability and leukemic progression in acute myeloid leukemia with myelodysplastic features.
    7. Study reports compound heterozygous mutations in PIGN in two siblings with Fryns syndrome, and a homozygous mutation in an unrelated affected individual. However, two further individuals with Fryns syndrome did not carry mutations in this gene, suggesting genetic heterogeneity in this syndrome.
      Title: Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families.
    8. Disease associated mutation L311W reduces enzymatic activity rather than affecting protein levels.
      Title: Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders.
    9. PIGN-1/PIGN is required for quality control in Caenorhabditis elegans and in mammalian cells.
      Title: PIGN prevents protein aggregation in the endoplasmic reticulum independently of its function in the GPI synthesis.
    10. PIGN mutation is associated with multiple congenital anomalies hypotonia seizures syndrome related epilepsy.
      Title: Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy.
    Submit: New GeneRIF Correction See all GeneRIFs (16)

    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
    Multiple congenital anomalies-hypotonia-seizures syndrome 1
    MedGen: C3279775 OMIM: 614080 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC26427

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables mannose-ethanolamine phosphotransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables mannose-ethanolamine phosphotransferase activity TAS
    Traceable Author Statement
    more info
    		  
    Process Evidence Code Pubs
    involved_in GPI anchor biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in GPI anchor biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in GPI anchor biosynthetic process TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in membrane HDA PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    GPI ethanolamine phosphate transferase 1
    Names
    MCD4 homolog
    phosphatidylinositol-glycan biosynthesis class N protein

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_033144.2 RefSeqGene

      Range
      5000..150892
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_012327.6 → NP_036459.1  GPI ethanolamine phosphate transferase 1

      See identical proteins and their annotated locations for NP_036459.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform.
      Source sequence(s)
      AC090354, AC090396, FP340563
      Consensus CDS
      CCDS45879.1
      UniProtKB/Swiss-Prot
      O95427, Q7L8F8, Q8TC01, Q9NT05
      UniProtKB/TrEMBL
      B2RCI8
      Related
      ENSP00000383188.2, ENST00000400334.7
      Conserved Domains (3) summary
      COG1524
      Location:7 → 280
      Npp1; Predicted pyrophosphatase or phosphodiesterase, AlkP superfamily [General function prediction only]
      pfam04987
      Location:431 → 884
      PigN; Phosphatidylinositolglycan class N (PIG-N)
      cd16020
      Location:40 → 345
      GPI_EPT_1; GPI ethanolamine phosphate transferase 1; PIG-N

    2. NM_176787.5 → NP_789744.1  GPI ethanolamine phosphate transferase 1

      See identical proteins and their annotated locations for NP_789744.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer variant. Variants 1 and 2 encode the same isoform.
      Source sequence(s)
      AC090354, AC090396, FP340563
      Consensus CDS
      CCDS45879.1
      UniProtKB/Swiss-Prot
      O95427, Q7L8F8, Q8TC01, Q9NT05
      UniProtKB/TrEMBL
      B2RCI8
      Related
      ENSP00000492233.1, ENST00000640252.2
      Conserved Domains (3) summary
      COG1524
      Location:7 → 280
      Npp1; Predicted pyrophosphatase or phosphodiesterase, AlkP superfamily [General function prediction only]
      pfam04987
      Location:431 → 884
      PigN; Phosphatidylinositolglycan class N (PIG-N)
      cd16020
      Location:40 → 345
      GPI_EPT_1; GPI ethanolamine phosphate transferase 1; PIG-N

    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

    1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      62017615..62187056 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047437461.1 → XP_047293417.1  GPI ethanolamine phosphate transferase 1 isoform X12

      UniProtKB/TrEMBL
      A0A1W2PQP4

    2. XM_047437431.1 → XP_047293387.1  GPI ethanolamine phosphate transferase 1 isoform X4

      UniProtKB/TrEMBL
      A0A1W2PS19
      Related
      ENSP00000491963.1, ENST00000638424.1

    3. XM_047437439.1 → XP_047293395.1  GPI ethanolamine phosphate transferase 1 isoform X6

      UniProtKB/Swiss-Prot
      O95427, Q7L8F8, Q8TC01, Q9NT05
      UniProtKB/TrEMBL
      B2RCI8
      Related
      ENSP00000492592.1, ENST00000638936.1

    4. XM_011525894.2 → XP_011524196.1  GPI ethanolamine phosphate transferase 1 isoform X1

      See identical proteins and their annotated locations for XP_011524196.1

      UniProtKB/TrEMBL
      A0A1W2PQA9, B2RCI8
      Conserved Domains (3) summary
      COG1524
      Location:7 → 280
      Npp1; Predicted pyrophosphatase or phosphodiesterase, AlkP superfamily [General function prediction only]
      pfam04987
      Location:431 → 884
      PigN; Phosphatidylinositolglycan class N (PIG-N)
      cd16020
      Location:40 → 345
      GPI_EPT_1; GPI ethanolamine phosphate transferase 1; PIG-N

    5. XM_047437440.1 → XP_047293396.1  GPI ethanolamine phosphate transferase 1 isoform X6

      UniProtKB/Swiss-Prot
      O95427, Q7L8F8, Q8TC01, Q9NT05
      UniProtKB/TrEMBL
      B2RCI8

    6. XM_011525891.2 → XP_011524193.1  GPI ethanolamine phosphate transferase 1 isoform X1

      See identical proteins and their annotated locations for XP_011524193.1

      UniProtKB/TrEMBL
      A0A1W2PQA9, B2RCI8
      Conserved Domains (3) summary
      COG1524
      Location:7 → 280
      Npp1; Predicted pyrophosphatase or phosphodiesterase, AlkP superfamily [General function prediction only]
      pfam04987
      Location:431 → 884
      PigN; Phosphatidylinositolglycan class N (PIG-N)
      cd16020
      Location:40 → 345
      GPI_EPT_1; GPI ethanolamine phosphate transferase 1; PIG-N

    7. XM_047437438.1 → XP_047293394.1  GPI ethanolamine phosphate transferase 1 isoform X6

      UniProtKB/Swiss-Prot
      O95427, Q7L8F8, Q8TC01, Q9NT05
      UniProtKB/TrEMBL
      B2RCI8

    8. XM_047437459.1 → XP_047293415.1  GPI ethanolamine phosphate transferase 1 isoform X10

      UniProtKB/TrEMBL
      A0A1W2PPR7, A0A1W2PQP4
      Related
      ENSP00000491549.1, ENST00000638167.1

    9. XM_047437452.1 → XP_047293408.1  GPI ethanolamine phosphate transferase 1 isoform X8

      UniProtKB/TrEMBL
      A0A1W2PQP4

    10. XM_047437435.1 → XP_047293391.1  GPI ethanolamine phosphate transferase 1 isoform X6

      UniProtKB/Swiss-Prot
      O95427, Q7L8F8, Q8TC01, Q9NT05
      UniProtKB/TrEMBL
      B2RCI8
      Related
      ENSP00000491628.1, ENST00000640876.1

    11. XM_047437433.1 → XP_047293389.1  GPI ethanolamine phosphate transferase 1 isoform X2

      UniProtKB/TrEMBL
      B2RCI8

    12. XM_011525895.2 → XP_011524197.1  GPI ethanolamine phosphate transferase 1 isoform X1

      See identical proteins and their annotated locations for XP_011524197.1

      UniProtKB/TrEMBL
      A0A1W2PQA9, B2RCI8
      Related
      ENSP00000491620.1, ENST00000640540.1
      Conserved Domains (3) summary
      COG1524
      Location:7 → 280
      Npp1; Predicted pyrophosphatase or phosphodiesterase, AlkP superfamily [General function prediction only]
      pfam04987
      Location:431 → 884
      PigN; Phosphatidylinositolglycan class N (PIG-N)
      cd16020
      Location:40 → 345
      GPI_EPT_1; GPI ethanolamine phosphate transferase 1; PIG-N

    13. XM_047437458.1 → XP_047293414.1  GPI ethanolamine phosphate transferase 1 isoform X10

      UniProtKB/TrEMBL
      A0A1W2PPR7, A0A1W2PQP4

    14. XM_047437451.1 → XP_047293407.1  GPI ethanolamine phosphate transferase 1 isoform X8

      UniProtKB/TrEMBL
      A0A1W2PQP4

    15. XM_047437436.1 → XP_047293392.1  GPI ethanolamine phosphate transferase 1 isoform X6

      UniProtKB/Swiss-Prot
      O95427, Q7L8F8, Q8TC01, Q9NT05
      UniProtKB/TrEMBL
      B2RCI8
      Related
      ENSP00000350263.4, ENST00000357637.10

    16. XM_047437434.1 → XP_047293390.1  GPI ethanolamine phosphate transferase 1 isoform X2

      UniProtKB/TrEMBL
      B2RCI8

    17. XM_011525893.2 → XP_011524195.1  GPI ethanolamine phosphate transferase 1 isoform X1

      See identical proteins and their annotated locations for XP_011524195.1

      UniProtKB/TrEMBL
      A0A1W2PQA9, B2RCI8
      Conserved Domains (3) summary
      COG1524
      Location:7 → 280
      Npp1; Predicted pyrophosphatase or phosphodiesterase, AlkP superfamily [General function prediction only]
      pfam04987
      Location:431 → 884
      PigN; Phosphatidylinositolglycan class N (PIG-N)
      cd16020
      Location:40 → 345
      GPI_EPT_1; GPI ethanolamine phosphate transferase 1; PIG-N

    18. XM_047437456.1 → XP_047293412.1  GPI ethanolamine phosphate transferase 1 isoform X10

      UniProtKB/TrEMBL
      A0A1W2PPR7, A0A1W2PQP4

    19. XM_047437455.1 → XP_047293411.1  GPI ethanolamine phosphate transferase 1 isoform X9

      UniProtKB/TrEMBL
      A0A1W2PQP4

    20. XM_047437453.1 → XP_047293409.1  GPI ethanolamine phosphate transferase 1 isoform X8

      UniProtKB/TrEMBL
      A0A1W2PQP4

    21. XM_047437432.1 → XP_047293388.1  GPI ethanolamine phosphate transferase 1 isoform X2

      UniProtKB/TrEMBL
      B2RCI8

    22. XM_011525892.2 → XP_011524194.1  GPI ethanolamine phosphate transferase 1 isoform X1

      See identical proteins and their annotated locations for XP_011524194.1

      UniProtKB/TrEMBL
      A0A1W2PQA9, B2RCI8
      Related
      ENSP00000490965.1, ENST00000639902.1
      Conserved Domains (3) summary
      COG1524
      Location:7 → 280
      Npp1; Predicted pyrophosphatase or phosphodiesterase, AlkP superfamily [General function prediction only]
      pfam04987
      Location:431 → 884
      PigN; Phosphatidylinositolglycan class N (PIG-N)
      cd16020
      Location:40 → 345
      GPI_EPT_1; GPI ethanolamine phosphate transferase 1; PIG-N

    23. XM_047437454.1 → XP_047293410.1  GPI ethanolamine phosphate transferase 1 isoform X10

      UniProtKB/TrEMBL
      A0A1W2PPR7, A0A1W2PQP4

    24. XM_047437450.1 → XP_047293406.1  GPI ethanolamine phosphate transferase 1 isoform X9

      UniProtKB/TrEMBL
      A0A1W2PQP4

    25. XM_017025685.2 → XP_016881174.1  GPI ethanolamine phosphate transferase 1 isoform X8

      UniProtKB/TrEMBL
      A0A1W2PQP4

    26. XM_011525896.2 → XP_011524198.1  GPI ethanolamine phosphate transferase 1 isoform X2

      UniProtKB/TrEMBL
      B2RCI8
      Conserved Domains (3) summary
      COG1524
      Location:7 → 280
      Npp1; Predicted pyrophosphatase or phosphodiesterase, AlkP superfamily [General function prediction only]
      pfam04987
      Location:431 → 884
      PigN; Phosphatidylinositolglycan class N (PIG-N)
      cd16020
      Location:40 → 345
      GPI_EPT_1; GPI ethanolamine phosphate transferase 1; PIG-N

    27. XM_011525889.2 → XP_011524191.1  GPI ethanolamine phosphate transferase 1 isoform X1

      See identical proteins and their annotated locations for XP_011524191.1

      UniProtKB/TrEMBL
      A0A1W2PQA9, B2RCI8
      Conserved Domains (3) summary
      COG1524
      Location:7 → 280
      Npp1; Predicted pyrophosphatase or phosphodiesterase, AlkP superfamily [General function prediction only]
      pfam04987
      Location:431 → 884
      PigN; Phosphatidylinositolglycan class N (PIG-N)
      cd16020
      Location:40 → 345
      GPI_EPT_1; GPI ethanolamine phosphate transferase 1; PIG-N

    28. XM_047437457.1 → XP_047293413.1  GPI ethanolamine phosphate transferase 1 isoform X10

      UniProtKB/TrEMBL
      A0A1W2PPR7, A0A1W2PQP4

    29. XM_047437437.1 → XP_047293393.1  GPI ethanolamine phosphate transferase 1 isoform X6

      UniProtKB/Swiss-Prot
      O95427, Q7L8F8, Q8TC01, Q9NT05
      UniProtKB/TrEMBL
      B2RCI8

    30. XM_011525890.2 → XP_011524192.1  GPI ethanolamine phosphate transferase 1 isoform X1

      See identical proteins and their annotated locations for XP_011524192.1

      UniProtKB/TrEMBL
      A0A1W2PQA9, B2RCI8
      Conserved Domains (3) summary
      COG1524
      Location:7 → 280
      Npp1; Predicted pyrophosphatase or phosphodiesterase, AlkP superfamily [General function prediction only]
      pfam04987
      Location:431 → 884
      PigN; Phosphatidylinositolglycan class N (PIG-N)
      cd16020
      Location:40 → 345
      GPI_EPT_1; GPI ethanolamine phosphate transferase 1; PIG-N

    31. XM_047437449.1 → XP_047293405.1  GPI ethanolamine phosphate transferase 1 isoform X7

      UniProtKB/TrEMBL
      A0A1W2PNR0, A0A1W2PS19

    32. XM_047437462.1 → XP_047293418.1  GPI ethanolamine phosphate transferase 1 isoform X11

      UniProtKB/TrEMBL
      A0A1W2PQP4

    33. XM_047437447.1 → XP_047293403.1  GPI ethanolamine phosphate transferase 1 isoform X7

      UniProtKB/TrEMBL
      A0A1W2PNR0, A0A1W2PS19

    34. XM_047437464.1 → XP_047293420.1  GPI ethanolamine phosphate transferase 1 isoform X11

      UniProtKB/TrEMBL
      A0A1W2PQP4

    35. XM_047437444.1 → XP_047293400.1  GPI ethanolamine phosphate transferase 1 isoform X7

      UniProtKB/TrEMBL
      A0A1W2PNR0, A0A1W2PS19
      Related
      ENSP00000491013.1, ENST00000638183.1

    36. XM_047437448.1 → XP_047293404.1  GPI ethanolamine phosphate transferase 1 isoform X7

      UniProtKB/TrEMBL
      A0A1W2PNR0, A0A1W2PS19

    37. XM_047437463.1 → XP_047293419.1  GPI ethanolamine phosphate transferase 1 isoform X11

      UniProtKB/TrEMBL
      A0A1W2PQP4

    38. XM_047437445.1 → XP_047293401.1  GPI ethanolamine phosphate transferase 1 isoform X7

      UniProtKB/TrEMBL
      A0A1W2PNR0, A0A1W2PS19

    39. XM_047437441.1 → XP_047293397.1  GPI ethanolamine phosphate transferase 1 isoform X3

      UniProtKB/TrEMBL
      A0A1W2PS19

    40. XM_047437460.1 → XP_047293416.1  GPI ethanolamine phosphate transferase 1 isoform X11

      UniProtKB/TrEMBL
      A0A1W2PQP4

    41. XM_047437443.1 → XP_047293399.1  GPI ethanolamine phosphate transferase 1 isoform X7

      UniProtKB/TrEMBL
      A0A1W2PNR0, A0A1W2PS19

    42. XM_047437446.1 → XP_047293402.1  GPI ethanolamine phosphate transferase 1 isoform X7

      UniProtKB/TrEMBL
      A0A1W2PNR0, A0A1W2PS19

    43. XM_047437442.1 → XP_047293398.1  GPI ethanolamine phosphate transferase 1 isoform X3

      UniProtKB/TrEMBL
      A0A1W2PS19

    44. XM_047437430.1 → XP_047293386.1  GPI ethanolamine phosphate transferase 1 isoform X3

      UniProtKB/TrEMBL
      A0A1W2PS19

    45. XM_011525898.2 → XP_011524200.1  GPI ethanolamine phosphate transferase 1 isoform X5

      UniProtKB/TrEMBL
      A0A1W2PS19
      Related
      ENSP00000492783.1, ENST00000639174.1
      Conserved Domains (3) summary
      COG1524
      Location:7 → 280
      Npp1; Predicted pyrophosphatase or phosphodiesterase, AlkP superfamily [General function prediction only]
      pfam04987
      Location:431 → 884
      PigN; Phosphatidylinositolglycan class N (PIG-N)
      cd16020
      Location:40 → 345
      GPI_EPT_1; GPI ethanolamine phosphate transferase 1; PIG-N

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      62220799..62389993 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054318466.1 → XP_054174441.1  GPI ethanolamine phosphate transferase 1 isoform X12

      UniProtKB/TrEMBL
      A0A1W2PQP4

    2. XM_054318438.1 → XP_054174413.1  GPI ethanolamine phosphate transferase 1 isoform X4

      UniProtKB/TrEMBL
      A0A1W2PS19

    3. XM_054318446.1 → XP_054174421.1  GPI ethanolamine phosphate transferase 1 isoform X6

      UniProtKB/TrEMBL
      B2RCI8

    4. XM_054318437.1 → XP_054174412.1  GPI ethanolamine phosphate transferase 1 isoform X2

      UniProtKB/TrEMBL
      B2RCI8

    5. XM_054318435.1 → XP_054174410.1  GPI ethanolamine phosphate transferase 1 isoform X2

      UniProtKB/TrEMBL
      B2RCI8

    6. XM_054318445.1 → XP_054174420.1  GPI ethanolamine phosphate transferase 1 isoform X6

      UniProtKB/TrEMBL
      B2RCI8

    7. XM_054318444.1 → XP_054174419.1  GPI ethanolamine phosphate transferase 1 isoform X6

      UniProtKB/TrEMBL
      B2RCI8

    8. XM_054318464.1 → XP_054174439.1  GPI ethanolamine phosphate transferase 1 isoform X10

      UniProtKB/TrEMBL
      A0A1W2PQP4

    9. XM_054318457.1 → XP_054174432.1  GPI ethanolamine phosphate transferase 1 isoform X9

      UniProtKB/TrEMBL
      A0A1W2PQP4

    10. XM_054318441.1 → XP_054174416.1  GPI ethanolamine phosphate transferase 1 isoform X6

      UniProtKB/TrEMBL
      B2RCI8

    11. XM_054318433.1 → XP_054174408.1  GPI ethanolamine phosphate transferase 1 isoform X2

      UniProtKB/TrEMBL
      B2RCI8

    12. XM_054318463.1 → XP_054174438.1  GPI ethanolamine phosphate transferase 1 isoform X10

      UniProtKB/TrEMBL
      A0A1W2PQP4

    13. XM_054318442.1 → XP_054174417.1  GPI ethanolamine phosphate transferase 1 isoform X6

      UniProtKB/TrEMBL
      B2RCI8

    14. XM_054318436.1 → XP_054174411.1  GPI ethanolamine phosphate transferase 1 isoform X2

      UniProtKB/TrEMBL
      B2RCI8

    15. XM_054318461.1 → XP_054174436.1  GPI ethanolamine phosphate transferase 1 isoform X10

      UniProtKB/TrEMBL
      A0A1W2PQP4

    16. XM_054318460.1 → XP_054174435.1  GPI ethanolamine phosphate transferase 1 isoform X9

      UniProtKB/TrEMBL
      A0A1W2PQP4

    17. XM_054318432.1 → XP_054174407.1  GPI ethanolamine phosphate transferase 1 isoform X2

      UniProtKB/TrEMBL
      B2RCI8

    18. XM_054318458.1 → XP_054174433.1  GPI ethanolamine phosphate transferase 1 isoform X10

      UniProtKB/TrEMBL
      A0A1W2PQP4

    19. XM_054318459.1 → XP_054174434.1  GPI ethanolamine phosphate transferase 1 isoform X9

      UniProtKB/TrEMBL
      A0A1W2PQP4

    20. XM_054318431.1 → XP_054174406.1  GPI ethanolamine phosphate transferase 1 isoform X2

      UniProtKB/TrEMBL
      B2RCI8

    21. XM_054318462.1 → XP_054174437.1  GPI ethanolamine phosphate transferase 1 isoform X10

      UniProtKB/TrEMBL
      A0A1W2PQP4

    22. XM_054318443.1 → XP_054174418.1  GPI ethanolamine phosphate transferase 1 isoform X6

      UniProtKB/TrEMBL
      B2RCI8

    23. XM_054318434.1 → XP_054174409.1  GPI ethanolamine phosphate transferase 1 isoform X2

      UniProtKB/TrEMBL
      B2RCI8

    24. XM_054318469.1 → XP_054174444.1  GPI ethanolamine phosphate transferase 1 isoform X11

      UniProtKB/TrEMBL
      A0A1W2PQP4

    25. XM_054318454.1 → XP_054174429.1  GPI ethanolamine phosphate transferase 1 isoform X7

      UniProtKB/TrEMBL
      A0A1W2PS19

    26. XM_054318456.1 → XP_054174431.1  GPI ethanolamine phosphate transferase 1 isoform X7

      UniProtKB/TrEMBL
      A0A1W2PS19

    27. XM_054318471.1 → XP_054174446.1  GPI ethanolamine phosphate transferase 1 isoform X11

      UniProtKB/TrEMBL
      A0A1W2PQP4

    28. XM_054318451.1 → XP_054174426.1  GPI ethanolamine phosphate transferase 1 isoform X7

      UniProtKB/TrEMBL
      A0A1W2PS19

    29. XM_054318455.1 → XP_054174430.1  GPI ethanolamine phosphate transferase 1 isoform X7

      UniProtKB/TrEMBL
      A0A1W2PS19

    30. XM_054318470.1 → XP_054174445.1  GPI ethanolamine phosphate transferase 1 isoform X11

      UniProtKB/TrEMBL
      A0A1W2PQP4

    31. XM_054318452.1 → XP_054174427.1  GPI ethanolamine phosphate transferase 1 isoform X7

      UniProtKB/TrEMBL
      A0A1W2PS19

    32. XM_054318465.1 → XP_054174440.1  GPI ethanolamine phosphate transferase 1 isoform X11

      UniProtKB/TrEMBL
      A0A1W2PQP4

    33. XM_054318447.1 → XP_054174422.1  GPI ethanolamine phosphate transferase 1 isoform X7

      UniProtKB/TrEMBL
      A0A1W2PS19

    34. XM_054318453.1 → XP_054174428.1  GPI ethanolamine phosphate transferase 1 isoform X7

      UniProtKB/TrEMBL
      A0A1W2PS19

    35. XM_054318439.1 → XP_054174414.1  GPI ethanolamine phosphate transferase 1 isoform X5

      UniProtKB/TrEMBL
      A0A1W2PS19

    36. XM_054318468.1 → XP_054174443.1  GPI ethanolamine phosphate transferase 1 isoform X14

      UniProtKB/TrEMBL
      A0A1W2PQP4

    37. XM_054318448.1 → XP_054174423.1  GPI ethanolamine phosphate transferase 1 isoform X13

      UniProtKB/TrEMBL
      A0A1W2PS19

    38. XM_054318467.1 → XP_054174442.1  GPI ethanolamine phosphate transferase 1 isoform X14

      UniProtKB/TrEMBL
      A0A1W2PQP4

    39. XM_054318449.1 → XP_054174424.1  GPI ethanolamine phosphate transferase 1 isoform X13

      UniProtKB/TrEMBL
      A0A1W2PS19

    40. XM_054318440.1 → XP_054174415.1  GPI ethanolamine phosphate transferase 1 isoform X13

      UniProtKB/TrEMBL
      A0A1W2PS19

    41. XM_054318450.1 → XP_054174425.1  GPI ethanolamine phosphate transferase 1 isoform X13

      UniProtKB/TrEMBL
      A0A1W2PS19
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95427.1 GenPept UniProtKB/Swiss-Prot:O95427

    Gene LinkOut

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