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FRMPD3 FERM and PDZ domain containing 3 [ Homo sapiens (human) ]

Gene ID: 84443, updated on 1-Jun-2020

Summary

Official Symbol
FRMPD3provided by HGNC
Official Full Name
FERM and PDZ domain containing 3provided by HGNC
Primary source
HGNC:HGNC:29382
See related
Ensembl:ENSG00000147234 MIM:301005
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
Summary
This gene encodes a protein that contains a PDZ (post synaptic density protein (PSD95), Drosophila disc large tumor suppressor (Dlg1), and zonula occludens-1 protein (zo-1) domain at the N-terminus followed by a FERM domain. The encoded protein is involved in signal transduction. The PDZ domain is thought to function in protein-protein interactions, mainly by binding to specific C-terminal peptides of other proteins. The FERM domain is found in proteins that are localized to the plasma membrane and are associated with the cytoskeleton. [provided by RefSeq, May 2017]
Expression
Biased expression in ovary (RPKM 3.1), brain (RPKM 2.3) and 8 other tissues See more
Orthologs

Genomic context

See FRMPD3 in Genome Data Viewer
Location:
Xq22.3
Exon count:
18
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (107522450..107605264)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (106769819..106848474)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene DnaJ heat shock protein family (Hsp40) member A1 pseudogene 3 Neighboring gene keratin 18 pseudogene 49 Neighboring gene FRMPD3 antisense RNA 1 Neighboring gene phosphoribosyl pyrophosphate synthetase 1 Neighboring gene TSC22 domain family member 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1817, RP5-1070B1.1

Gene Ontology Provided by GOA

Process Evidence Code Pubs
neutrophil degranulation TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
secretory granule membrane TAS
Traceable Author Statement
more info
 
tertiary granule membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
FERM and PDZ domain-containing 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_032428.2NP_115804.1  FERM and PDZ domain-containing protein 3

    See identical proteins and their annotated locations for NP_115804.1

    Status: REVIEWED

    Source sequence(s)
    AL035088, AL137787
    Consensus CDS
    CCDS76006.1
    UniProtKB/Swiss-Prot
    Q5JV73
    Related
    ENSP00000276185.4, ENST00000276185.8
    Conserved Domains (5) summary
    smart00295
    Location:181400
    B41; Band 4.1 homologues
    cd00992
    Location:52128
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd13183
    Location:396499
    FERM_C_FRMPD1_FRMPD3_FRMPD4; FERM domain C-lobe of FERM and PDZ domain containing proteins 1, 3, and 4 (FRMPD1, 3, 4)
    pfam00373
    Location:276400
    FERM_M; FERM central domain
    pfam15710
    Location:10001378
    DUF4671; Domain of unknown function (DUF4671)

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_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    107522450..107605264
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017029902.2XP_016885391.1  FERM and PDZ domain-containing protein 3 isoform X2

  2. XM_017029901.2XP_016885390.1  FERM and PDZ domain-containing protein 3 isoform X1

    Related
    ENSP00000398668.1, ENST00000439554.1
  3. XM_011531056.3XP_011529358.1  FERM and PDZ domain-containing protein 3 isoform X3

    Conserved Domains (4) summary
    smart00295
    Location:50269
    B41; Band 4.1 homologues
    cd13183
    Location:265368
    FERM_C_FRMPD1_FRMPD3_FRMPD4; FERM domain C-lobe of FERM and PDZ domain containing proteins 1, 3, and 4 (FRMPD1, 3, 4)
    pfam00373
    Location:145269
    FERM_M; FERM central domain
    pfam15710
    Location:8691247
    DUF4671; Domain of unknown function (DUF4671)
  4. XM_011531057.3XP_011529359.1  FERM and PDZ domain-containing protein 3 isoform X4

    Conserved Domains (4) summary
    smart00295
    Location:46265
    B41; Band 4.1 homologues
    cd13183
    Location:261364
    FERM_C_FRMPD1_FRMPD3_FRMPD4; FERM domain C-lobe of FERM and PDZ domain containing proteins 1, 3, and 4 (FRMPD1, 3, 4)
    pfam00373
    Location:141265
    FERM_M; FERM central domain
    pfam15710
    Location:8651243
    DUF4671; Domain of unknown function (DUF4671)
  5. XM_011531058.3XP_011529360.1  FERM and PDZ domain-containing protein 3 isoform X5

    Conserved Domains (4) summary
    smart00295
    Location:13232
    B41; Band 4.1 homologues
    cd13183
    Location:228331
    FERM_C_FRMPD1_FRMPD3_FRMPD4; FERM domain C-lobe of FERM and PDZ domain containing proteins 1, 3, and 4 (FRMPD1, 3, 4)
    pfam00373
    Location:108232
    FERM_M; FERM central domain
    pfam15710
    Location:8321210
    DUF4671; Domain of unknown function (DUF4671)
  6. XM_006724709.3XP_006724772.1  FERM and PDZ domain-containing protein 3 isoform X6

    See identical proteins and their annotated locations for XP_006724772.1

    Conserved Domains (4) summary
    smart00295
    Location:3195
    B41; Band 4.1 homologues
    cd13183
    Location:191294
    FERM_C_FRMPD1_FRMPD3_FRMPD4; FERM domain C-lobe of FERM and PDZ domain containing proteins 1, 3, and 4 (FRMPD1, 3, 4)
    pfam00373
    Location:71195
    FERM_M; FERM central domain
    pfam15710
    Location:7951173
    DUF4671; Domain of unknown function (DUF4671)
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