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

    Gene ID: 84443, updated on 3-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:29382
    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
    mouse all
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    Genomic context

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    See FRMPD3 in Genome Data Viewer
    Location:
    Xq22.3
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (107449652..107605251)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (105886268..106042004)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (106692882..106848481)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:106598330-106599265 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:106607772-106608400 Neighboring gene DnaJ heat shock protein family (Hsp40) member A1 pseudogene 3 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:106640109-106640292 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20927 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:106686037-106686538 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:106686539-106687038 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:106691754-106692254 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:106694089-106695003 Neighboring gene keratin 18 pseudogene 49 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:106727305-106727863 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:106749412-106749912 Neighboring gene FRMPD3 antisense RNA 1 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:106804525-106805322 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:106806121-106806916 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:106806917-106807714 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:106842109-106842610 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:106842611-106843110 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:106843233-106843778 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:106843779-106844324 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20928 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:106876457-106876559 Neighboring gene Sharpr-MPRA regulatory region 15331 Neighboring gene phosphoribosyl pyrophosphate synthetase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20929 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29833 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20930 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20931 Neighboring gene NANOG hESC enhancer GRCh37_chrX:106943730-106944231 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29834 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29835 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:106968611-106969112 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:106975096-106975705 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chrX:106980023-106980600 Neighboring gene TSC22 domain family member 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:106992672-106993524 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:106993525-106994376 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:107017786-107018363 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:107018364-107018940 Neighboring gene Sharpr-MPRA regulatory region 6089

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 2001 Apr 27. PMID 11347906
    2. The DNA sequence of the human X chromosome. Ross MT, et al. Nature, 2005 Mar 17. PMID 15772651, Free PMC Article
    3. Global mapping of herpesvirus-host protein complexes reveals a transcription strategy for late genes. Davis ZH, et al. Mol Cell, 2015 Jan 22. PMID 25544563, Free PMC Article
    4. Optimized fragmentation schemes and data analysis strategies for proteome-wide cross-link identification. Liu F, et al. Nat Commun, 2017 May 19. PMID 28524877, Free PMC Article
    5. DSBSO-Based XL-MS Analysis of Breast Cancer PDX Tissues to Delineate Protein Interaction Network in Clinical Samples. Jiao F, et al. J Proteome Res, 2024 Aug 2. PMID 38334954, Free PMC Article

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA1817, RP5-1070B1.1

    Gene Ontology Provided by GOA

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

    General protein information

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    Preferred Names
    FERM and PDZ domain-containing protein 3

    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)

    1. NM_001388459.1 → NP_001375388.1  FERM and PDZ domain-containing protein 3 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL035088, AL137787
      Consensus CDS
      CCDS94646.1
      UniProtKB/Swiss-Prot
      A0A804HKI5, Q5JV73, Q96JK8
      UniProtKB/TrEMBL
      A0A0A0MSP7
      Related
      ENSP00000507942.1, ENST00000683843.1
      Conserved Domains (4) summary
      smart00295
      Location:148 → 367
      B41; Band 4.1 homologues
      cd00992
      Location:19 → 95
      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:363 → 466
      FERM_C_FRMPD1_FRMPD3_FRMPD4; FERM domain C-lobe of FERM and PDZ domain containing proteins 1, 3, and 4 (FRMPD1, 3, 4)
      cd17169
      Location:145 → 237
      FERM_F1_FRMPD3; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in FERM and PDZ domain-containing protein 3 (FRMPD3)

    2. NM_001388462.1 → NP_001375391.1  FERM and PDZ domain-containing protein 3 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL035088, AL137787
      Consensus CDS
      CCDS94647.1
      UniProtKB/TrEMBL
      A0A0A0MSP7, A0A804HJA6
      Conserved Domains (3) summary
      smart00295
      Location:13 → 232
      B41; Band 4.1 homologues
      cd13183
      Location:228 → 331
      FERM_C_FRMPD1_FRMPD3_FRMPD4; FERM domain C-lobe of FERM and PDZ domain containing proteins 1, 3, and 4 (FRMPD1, 3, 4)
      cd17169
      Location:10 → 102
      FERM_F1_FRMPD3; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in FERM and PDZ domain-containing protein 3 (FRMPD3)

    3. NM_032428.2 → NP_115804.1  FERM and PDZ domain-containing protein 3 isoform 3

      See identical proteins and their annotated locations for NP_115804.1

      Status: REVIEWED

      Source sequence(s)
      AL035088, AL137787
      UniProtKB/TrEMBL
      A0A0A0MSP7
      Conserved Domains (5) summary
      smart00295
      Location:181 → 400
      B41; Band 4.1 homologues
      cd00992
      Location:52 → 128
      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:396 → 499
      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:276 → 400
      FERM_M; FERM central domain
      pfam15710
      Location:1000 → 1378
      DUF4671; Domain of unknown function (DUF4671)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      107449652..107605251
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017029902.3 → XP_016885391.1  FERM and PDZ domain-containing protein 3 isoform X1

      UniProtKB/TrEMBL
      A0A0A0MSP7

    2. XM_006724709.4 → XP_006724772.1  FERM and PDZ domain-containing protein 3 isoform X5

      See identical proteins and their annotated locations for XP_006724772.1

      UniProtKB/TrEMBL
      A0A0A0MSP7
      Conserved Domains (4) summary
      smart00295
      Location:3 → 195
      B41; Band 4.1 homologues
      cd13183
      Location:191 → 294
      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:71 → 195
      FERM_M; FERM central domain
      pfam15710
      Location:795 → 1173
      DUF4671; Domain of unknown function (DUF4671)

    3. XM_011531056.4 → XP_011529358.1  FERM and PDZ domain-containing protein 3 isoform X2

      UniProtKB/TrEMBL
      A0A0A0MSP7
      Conserved Domains (4) summary
      smart00295
      Location:50 → 269
      B41; Band 4.1 homologues
      cd13183
      Location:265 → 368
      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:145 → 269
      FERM_M; FERM central domain
      pfam15710
      Location:869 → 1247
      DUF4671; Domain of unknown function (DUF4671)

    4. XM_011531057.4 → XP_011529359.1  FERM and PDZ domain-containing protein 3 isoform X3

      UniProtKB/TrEMBL
      A0A0A0MSP7
      Conserved Domains (4) summary
      smart00295
      Location:46 → 265
      B41; Band 4.1 homologues
      cd13183
      Location:261 → 364
      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:141 → 265
      FERM_M; FERM central domain
      pfam15710
      Location:865 → 1243
      DUF4671; Domain of unknown function (DUF4671)

    5. XM_011531058.4 → XP_011529360.1  FERM and PDZ domain-containing protein 3 isoform X4

      UniProtKB/TrEMBL
      A0A0A0MSP7, A0A804HJA6
      Related
      ENSP00000507422.1, ENST00000684358.1
      Conserved Domains (3) summary
      smart00295
      Location:13 → 232
      B41; Band 4.1 homologues
      cd13183
      Location:228 → 331
      FERM_C_FRMPD1_FRMPD3_FRMPD4; FERM domain C-lobe of FERM and PDZ domain containing proteins 1, 3, and 4 (FRMPD1, 3, 4)
      cd17169
      Location:10 → 102
      FERM_F1_FRMPD3; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in FERM and PDZ domain-containing protein 3 (FRMPD3)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      105886268..106042004
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327971.1 → XP_054183946.1  FERM and PDZ domain-containing protein 3 isoform X1

    2. XM_054327975.1 → XP_054183950.1  FERM and PDZ domain-containing protein 3 isoform X5

    3. XM_054327972.1 → XP_054183947.1  FERM and PDZ domain-containing protein 3 isoform X2

    4. XM_054327973.1 → XP_054183948.1  FERM and PDZ domain-containing protein 3 isoform X3

    5. XM_054327974.1 → XP_054183949.1  FERM and PDZ domain-containing protein 3 isoform X4

      UniProtKB/TrEMBL
      A0A804HJA6
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5JV73.3 GenPept UniProtKB/Swiss-Prot:Q5JV73

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