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PIGU phosphatidylinositol glycan anchor biosynthesis class U [ Homo sapiens (human) ]

Gene ID: 128869, updated on 17-Jun-2024

Summary

Official Symbol
PIGUprovided by HGNC
Official Full Name
phosphatidylinositol glycan anchor biosynthesis class Uprovided by HGNC
Primary source
HGNC:HGNC:15791
See related
Ensembl:ENSG00000101464 MIM:608528; AllianceGenome:HGNC:15791
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
GAB1; PIG-U; NEDBSS; CDC91L1; GPIBD21
Summary
The protein encoded by this gene shares similarity with Saccharomyces cerevisiae Cdc91, a predicted integral membrane protein that may function in cell division control. The protein encoded by this gene is the fifth subunit of GPI transamidase that attaches GPI-anchors to proteins. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in testis (RPKM 6.6), ovary (RPKM 5.2) and 25 other tissues See more
Orthologs
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Genomic context

See PIGU in Genome Data Viewer
Location:
20q11.22
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (34560542..34677092, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (36283696..36397781, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (33148346..33264896, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17766 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:33104047-33104912 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:33110743-33111242 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:33113424-33114623 Neighboring gene dynein light chain roadblock-type 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12837 Neighboring gene microtubule associated protein 1 light chain 3 alpha Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12838 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12839 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12840 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:33153261-33153762 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:33170999-33171500 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:33171501-33172000 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:33264364-33265250 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:33265251-33266136 Neighboring gene uncharacterized LOC105372599 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12843 Neighboring gene Sharpr-MPRA regulatory region 13945 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12844 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12845 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12846 Neighboring gene tumor protein p53 inducible nuclear protein 2

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?

Phenotypes

Associated conditions

Description Tests
Glycosylphosphatidylinositol biosynthesis defect 21
MedGen: C5231419 OMIM: 618590 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Common sequence variants on 20q11.22 confer melanoma susceptibility.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC40420

General protein information

Preferred Names
phosphatidylinositol glycan anchor biosynthesis class U protein
Names
CDC91 (cell division cycle 91, S. cerevisiae, homolog)-like 1
GPI and Actin Bar homolog
GPI transamidase component PIG-U
GPI transamidase subunit
GPI transamidase subunit PIGU
cell division cycle 91-like 1 protein
cell division cycle protein 91-like 1
protein CDC91-like 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_011497.1 RefSeqGene

    Range
    5194..121744
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_080476.5NP_536724.1  phosphatidylinositol glycan anchor biosynthesis class U protein

    See identical proteins and their annotated locations for NP_536724.1

    Status: REVIEWED

    Source sequence(s)
    AY422169
    Consensus CDS
    CCDS13239.1
    UniProtKB/Swiss-Prot
    Q7Z489, Q8N2F2, Q9H490
    UniProtKB/TrEMBL
    B4DXB6
    Related
    ENSP00000217446.3, ENST00000217446.8
    Conserved Domains (1) summary
    pfam06728
    Location:20394
    PIG-U; GPI transamidase subunit PIG-U

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_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    34560542..34677092 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017027664.2XP_016883153.1  phosphatidylinositol glycan anchor biosynthesis class U protein isoform X1

    UniProtKB/TrEMBL
    B4DXB6
    Conserved Domains (1) summary
    pfam06728
    Location:20346
    PIG-U; GPI transamidase subunit PIG-U
  2. XM_011528542.2XP_011526844.1  phosphatidylinositol glycan anchor biosynthesis class U protein isoform X2

    See identical proteins and their annotated locations for XP_011526844.1

    Conserved Domains (1) summary
    pfam06728
    Location:2178
    PIG-U; GPI transamidase subunit PIG-U

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    36283696..36397781 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054322981.1XP_054178956.1  phosphatidylinositol glycan anchor biosynthesis class U protein isoform X1

    UniProtKB/TrEMBL
    B4DXB6
  2. XM_054322982.1XP_054178957.1  phosphatidylinositol glycan anchor biosynthesis class U protein isoform X2