PBDC1 polysaccharide biosynthesis domain containing 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PBDC1provided by HGNC
Official Full Name: polysaccharide biosynthesis domain containing 1provided by HGNC
Primary source: HGNC:HGNC:28790
See related: Ensembl:ENSG00000102390 Vega:OTTHUMG00000021876
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: CXorf26
Expression: Ubiquitous expression in duodenum (RPKM 13.7), small intestine (RPKM 12.0) and 25 other tissues See more
Orthologs: mouse all

Genomic context

Location:: Xq13.3

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
109	current	GRCh38.p12 (GCF_000001405.38)	X	NC_000023.11 (76172929..76178310)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (75392771..75398033)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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 Jun 15 11:32:44 2016

Bibliography

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GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Homology

Homologs of the PBDC1 gene: The PBDC1 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, zebrafish, fruit fly, mosquito, C.elegans, S.cerevisiae, K.lactis, E.gossypii, S.pombe, M.oryzae, N.crassa, and frog.
Orthologs from Annotation Pipeline: 188 organisms have orthologs with human gene PBDC1
The Hierarchical Catalog of Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
biological_process	ND No biological Data available more info

Component	Evidence Code	Pubs
cellular_component	ND No biological Data available more info

General protein information

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Preferred Names: protein PBDC1

Names: UPF0368 protein Cxorf26; polysaccharide biosynthesis domain-containing protein 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.

mRNA and Protein(s)

NM_001300888.1 → NP_001287817.1 protein PBDC1 isoform 2

See identical proteins and their annotated locations for NP_001287817.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an exon in the 3' coding region which results in a frameshift compared to isoform 1. The encoded isoform (2) is shorter and has a distinct C-terminus compared to isoform 1.

Source sequence(s)

AC233281, AI919559, BC001220, BM817702, CD704296, DB536944

Consensus CDS

CCDS75995.1

UniProtKB/Swiss-Prot

Q9BVG4

UniProtKB/TrEMBL

A6NDF3

Related

ENSP00000362455.3, OTTHUMP00000023586, ENST00000373357.3, OTTHUMT00000057295

Conserved Domains (1) summary

cl04661
Location:35 → 100

Polysacc_synt_4; Polysaccharide biosynthesis
NM_016500.4 → NP_057584.2 protein PBDC1 isoform 1

See identical proteins and their annotated locations for NP_057584.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AC233281, AI919559, AY927529, BC001220

Consensus CDS

CCDS14432.1

UniProtKB/Swiss-Prot

Q9BVG4

Related

ENSP00000362456.3, OTTHUMP00000023585, ENST00000373358.7

Conserved Domains (1) summary

pfam04669
Location:35 → 159

Polysacc_synt_4; Polysaccharide biosynthesis