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PRR7 proline rich 7, synaptic [ Homo sapiens (human) ]

Gene ID: 80758, updated on 24-Nov-2020

Summary

Official Symbol
PRR7provided by HGNC
Official Full Name
proline rich 7, synapticprovided by HGNC
Primary source
HGNC:HGNC:28130
See related
Ensembl:ENSG00000131188 MIM:618306
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
Expression
Biased expression in bone marrow (RPKM 2.0), brain (RPKM 0.9) and 12 other tissues See more
Orthologs

Genomic context

See PRR7 in Genome Data Viewer
Location:
5q35.3
Exon count:
7
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (177445995..177456701)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (176873796..176883287)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene solute carrier family 34 member 1 Neighboring gene coagulation factor XII Neighboring gene G protein-coupled receptor kinase 6 Neighboring gene PRR7 antisense RNA 1 Neighboring gene drebrin 1 Neighboring gene PDZ and LIM domain 7 Neighboring gene docking protein 3

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
Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.
GeneReviews: Not available
New loci associated with kidney function and chronic kidney disease.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC10772

Gene Ontology Provided by GOA

Function Evidence Code Pubs
long-chain fatty acid binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein tyrosine kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein-containing complex binding IEA
Inferred from Electronic Annotation
more info
 
ubiquitin-like protein ligase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
dendrite IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 
perinuclear region of cytoplasm IMP
Inferred from Mutant Phenotype
more info
PubMed 
plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
postsynaptic density membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
proline-rich protein 7
Names
synaptic proline-rich membrane protein

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_001174101.2NP_001167572.1  proline-rich protein 7

    See identical proteins and their annotated locations for NP_001167572.1

    Status: VALIDATED

    Source sequence(s)
    AC145098, BC021240, BC024233
    Consensus CDS
    CCDS4419.1
    UniProtKB/Swiss-Prot
    Q8TB68
    UniProtKB/TrEMBL
    A0A024R7R8
    Related
    ENSP00000420872.1, ENST00000502922.5
    Conserved Domains (1) summary
    pfam11669
    Location:1753
    WBP-1; WW domain-binding protein 1
  2. NM_001174102.3NP_001167573.1  proline-rich protein 7

    See identical proteins and their annotated locations for NP_001167573.1

    Status: VALIDATED

    Source sequence(s)
    AC145098
    Consensus CDS
    CCDS4419.1
    UniProtKB/Swiss-Prot
    Q8TB68
    UniProtKB/TrEMBL
    A0A024R7R8
    Related
    ENSP00000421039.1, ENST00000510492.1
    Conserved Domains (1) summary
    pfam11669
    Location:1753
    WBP-1; WW domain-binding protein 1
  3. NM_001375593.1NP_001362522.1  proline-rich protein 7

    Status: VALIDATED

    Source sequence(s)
    AC145098
    Conserved Domains (1) summary
    pfam11669
    Location:1753
    WBP-1; WW domain-binding protein 1
  4. NM_001375594.1NP_001362523.1  proline-rich protein 7

    Status: VALIDATED

    Source sequence(s)
    AC145098
    Conserved Domains (1) summary
    pfam11669
    Location:1753
    WBP-1; WW domain-binding protein 1
  5. NM_030567.5NP_085044.2  proline-rich protein 7

    See identical proteins and their annotated locations for NP_085044.2

    Status: VALIDATED

    Source sequence(s)
    AC145098, BC021240, BC024233
    Consensus CDS
    CCDS4419.1
    UniProtKB/Swiss-Prot
    Q8TB68
    UniProtKB/TrEMBL
    A0A024R7R8
    Related
    ENSP00000327168.3, ENST00000323249.8
    Conserved Domains (1) summary
    pfam11669
    Location:1753
    WBP-1; WW domain-binding protein 1

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    177445995..177456701
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017009896.1XP_016865385.1  proline-rich protein 7 isoform X1

    UniProtKB/Swiss-Prot
    Q8TB68
    UniProtKB/TrEMBL
    A0A024R7R8
    Conserved Domains (1) summary
    pfam11669
    Location:1753
    WBP-1; WW domain-binding protein 1
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