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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
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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)

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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