Format

Send to:

Choose Destination

POPDC3 popeye domain containing 3 [ Homo sapiens (human) ]

Gene ID: 64208, updated on 2-May-2020

Summary

Official Symbol
POPDC3provided by HGNC
Official Full Name
popeye domain containing 3provided by HGNC
Primary source
HGNC:HGNC:17649
See related
Ensembl:ENSG00000132429 MIM:605824
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
POP3; LGMDR26; bA355M14.1
Summary
This gene encodes a member of the POP family of proteins containing three putative transmembrane domains. This gene is expressed in cardiac and skeletal muscle and may play an important role in these tissues during development. Alternatively spliced transcript variants have been found. [provided by RefSeq, Nov 2008]
Expression
Biased expression in heart (RPKM 4.3), testis (RPKM 1.6) and 6 other tissues See more
Orthologs

Genomic context

See POPDC3 in Genome Data Viewer
Location:
6q21
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (105157900..105180014, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (105605775..105627858, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene lin-28 homolog B Neighboring gene RNA, U6 small nuclear 1106, pseudogene Neighboring gene blood vessel epicardial substance Neighboring gene BVES antisense RNA 1 Neighboring gene uncharacterized LOC105377920 Neighboring gene ribosomal protein L7a pseudogene 35 Neighboring gene prolyl endopeptidase

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
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26
MedGen: CN280722 OMIM: 618848 GeneReviews: Not available
not available

NHGRI GWAS Catalog

Description
Genome-wide association study identifies sequence variants on 6q21 associated with age at menarche.
NHGRI GWA Catalog
Genome-wide association study of severity in multiple sclerosis.
NHGRI GWA Catalog
Many sequence variants affecting diversity of adult human height.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC22671

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cAMP binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cAMP binding ISS
Inferred from Sequence or Structural Similarity
more info
 
molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
heart development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of membrane potential IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of membrane potential ISS
Inferred from Sequence or Structural Similarity
more info
 
skeletal muscle tissue development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
striated muscle cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sarcolemma IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
popeye domain-containing protein 3
Names
popeye protein 3

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_022361.5NP_071756.2  popeye domain-containing protein 3

    See identical proteins and their annotated locations for NP_071756.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) is the longer transcript and encodes a protein of 291 aa.
    Source sequence(s)
    AK314101, AL356775, AL359709
    Consensus CDS
    CCDS5052.1
    UniProtKB/Swiss-Prot
    Q9HBV1
    Related
    ENSP00000254765.3, ENST00000254765.4
    Conserved Domains (1) summary
    pfam04831
    Location:25249
    Popeye; Popeye protein conserved region

RNA

  1. NR_024539.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an internal segment, as compared to variant 1. It is a nonsense-mediated mRNA decay (NMD) candidate and does not make a functional protein.
    Source sequence(s)
    AK225989, AL356775

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_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    105157900..105180014 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011536067.3XP_011534369.1  popeye domain-containing protein 3 isoform X1

    See identical proteins and their annotated locations for XP_011534369.1

    UniProtKB/Swiss-Prot
    Q9HBV1
    Conserved Domains (1) summary
    pfam04831
    Location:25249
    Popeye; Popeye protein conserved region
  2. XM_017011194.1XP_016866683.1  popeye domain-containing protein 3 isoform X1

    UniProtKB/Swiss-Prot
    Q9HBV1
    Conserved Domains (1) summary
    pfam04831
    Location:25249
    Popeye; Popeye protein conserved region
  3. XM_017011195.1XP_016866684.1  popeye domain-containing protein 3 isoform X1

    UniProtKB/Swiss-Prot
    Q9HBV1
    Conserved Domains (1) summary
    pfam04831
    Location:25249
    Popeye; Popeye protein conserved region
Support Center