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PGAP4 post-GPI attachment to proteins GalNAc transferase 4 [ Homo sapiens (human) ]

Gene ID: 84302, updated on 27-Jun-2020

Summary

Official Symbol
PGAP4provided by HGNC
Official Full Name
post-GPI attachment to proteins GalNAc transferase 4provided by HGNC
Primary source
HGNC:HGNC:28180
See related
Ensembl:ENSG00000165152
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TMEM246; C9orf125
Expression
Broad expression in brain (RPKM 25.2), heart (RPKM 14.2) and 20 other tissues See more
Orthologs

Genomic context

See PGAP4 in Genome Data Viewer
Location:
9q31.1
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (101473163..101489195, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (104235442..104249475, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376184 Neighboring gene NFE2L2 motif-containing MPRA enhancer 257 Neighboring gene TMEM246 antisense RNA 1 Neighboring gene ring finger protein 20 Neighboring gene glutamate ionotropic receptor NMDA type subunit 3A Neighboring gene protein phosphatase 3 regulatory subunit B, beta

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

Phenotypes

NHGRI GWAS Catalog

Description
Electronic medical records and genomics (eMERGE) network exploration in cataract: Several new potential susceptibility loci.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ37094, MGC12992

Gene Ontology Provided by GOA

Function Evidence Code Pubs
transferase activity, transferring glycosyl groups IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
GPI anchor biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
Golgi membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
post-GPI attachment to proteins factor 4; transmembrane protein 246
Names
transmembrane protein C9orf125

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.

mRNA and Protein(s)

  1. NM_001303107.2NP_001290036.1  post-GPI attachment to proteins factor 4

    See identical proteins and their annotated locations for NP_001290036.1

    Status: VALIDATED

    Source sequence(s)
    AJ420439, AL353621, AL521069, BC033550, HY174800
    Consensus CDS
    CCDS6757.1
    UniProtKB/Swiss-Prot
    Q9BRR3
    UniProtKB/TrEMBL
    A0A024R188
    Related
    ENSP00000363980.1, ENST00000374847.5
  2. NM_001303108.2NP_001290037.1  post-GPI attachment to proteins factor 4

    See identical proteins and their annotated locations for NP_001290037.1

    Status: VALIDATED

    Source sequence(s)
    AL353621
    Consensus CDS
    CCDS6757.1
    UniProtKB/Swiss-Prot
    Q9BRR3
    UniProtKB/TrEMBL
    A0A024R188
  3. NM_001371233.1NP_001358162.1  post-GPI attachment to proteins factor 4

    Status: VALIDATED

    Source sequence(s)
    AL353621
  4. NM_032342.3NP_115718.1  post-GPI attachment to proteins factor 4

    See identical proteins and their annotated locations for NP_115718.1

    Status: VALIDATED

    Source sequence(s)
    AJ420439, AL353621, BC006115, BC033550
    Consensus CDS
    CCDS6757.1
    UniProtKB/Swiss-Prot
    Q9BRR3
    UniProtKB/TrEMBL
    A0A024R188
    Related
    ENSP00000363981.3, ENST00000374848.8

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    101473163..101489195 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024447701.1XP_024303469.1  transmembrane protein 246 isoform X1

    Related
    ENSP00000363984.1, ENST00000374851.1
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