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    FRMPD1 FERM and PDZ domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 22844, updated on 12-Sep-2024

    Summary

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    Official Symbol
    FRMPD1provided by HGNC
    Official Full Name
    FERM and PDZ domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:29159
    See related
    Ensembl:ENSG00000070601 MIM:616919; AllianceGenome:HGNC:29159
    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
    Also known as
    FRMD2
    Summary
    Involved in establishment of protein localization to membrane and regulation of G protein-coupled receptor signaling pathway. Located in plasma membrane. Part of protein-containing complex. Colocalizes with cell cortex. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in testis (RPKM 3.6), skin (RPKM 1.1) and 2 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    9p13.2
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (37603229..37746904)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (37626930..37770615)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (37603226..37746901)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:37511563-37512119 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:37515395-37515896 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28395 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28396 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19907 Neighboring gene F-box protein 10 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28397 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28398 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28399 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19908 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28400 Neighboring gene MPRA-validated peak7234 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19909 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28401 Neighboring gene Sharpr-MPRA regulatory region 11948 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19910 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:37600233-37600415 Neighboring gene translocase of outer mitochondrial membrane 5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19911 Neighboring gene RAB1C, member RAS oncogene family (pseudogene) Neighboring gene RN7SK pseudogene 171 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:37697369-37697615 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:37745887-37746388 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:37753712-37753946 Neighboring gene tRNA methyltransferase 10B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28402 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:37784801-37785316 Neighboring gene exosome component 3

    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. Novel genetic locus implicated for HIV-1 acquisition with putative regulatory links to HIV replication and infectivity: a genome-wide association study. Johnson EO, et al. PLoS One, 2015. PMID 25786224, Free PMC Article
    2. Structural and biochemical characterization of the interaction between LGN and Frmpd1. Pan Z, et al. J Mol Biol, 2013 Mar 25. PMID 23318951
    3. Rat Mcs5a is a compound quantitative trait locus with orthologous human loci that associate with breast cancer risk. Samuelson DJ, et al. Proc Natl Acad Sci U S A, 2007 Apr 10. PMID 17404222, Free PMC Article
    4. The PDZ and band 4.1 containing protein Frmpd1 regulates the subcellular location of activator of G-protein signaling 3 and its interaction with G-proteins. An N, et al. J Biol Chem, 2008 Sep 5. PMID 18566450, Free PMC Article
    5. Structural basis for interaction between the conserved cell polarity proteins Inscuteable and Leu-Gly-Asn repeat-enriched protein (LGN). Yuzawa S, et al. Proc Natl Acad Sci U S A, 2011 Nov 29. PMID 22074847, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. G allele at rs4878712 in FRMPD1 was associated with lower HIV-1 acquisition. G allele at this SNP was also associated with reduced FBXO10 and increased BCL2 expression levels, whereas higher BCL2 levels are known to reduce HIV replication and infectivity.
      Title: Novel genetic locus implicated for HIV-1 acquisition with putative regulatory links to HIV replication and infectivity: a genome-wide association study.
    2. LGN-TPR motifs are versatile and capable of recognizing multiple targets via diverse binding modes.
      Title: Structural and biochemical characterization of the interaction between LGN and Frmpd1.
    3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    4. The PDZ and band 4.1 containing protein Frmpd1 regulates the subcellular location of activator of G-protein signaling 3 and its interaction with G-proteins.
      Title: The PDZ and band 4.1 containing protein Frmpd1 regulates the subcellular location of activator of G-protein signaling 3 and its interaction with G-proteins.
    Submit: New GeneRIF Correction

    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

    • KIAA0967, MGC138833

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in establishment of protein localization to membrane IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of G protein-coupled receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    colocalizes_with cell cortex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    colocalizes_with cell cortex IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    part_of protein-containing complex IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    FERM and PDZ domain-containing protein 1
    Names
    FERM domain-containing protein 2

    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_001371223.1 → NP_001358152.1  FERM and PDZ domain-containing protein 1

      Status: VALIDATED

      Source sequence(s)
      AL513165, AL591470
      Consensus CDS
      CCDS6612.1
      UniProtKB/Swiss-Prot
      B4DZC8, B7Z807, D3DRQ3, Q14C73, Q5HY96, Q5SYB0, Q9Y2H3
      Related
      ENSP00000444411.1, ENST00000539465.5
      Conserved Domains (6) summary
      smart00295
      Location:182 → 401
      B41; Band 4.1 homologues
      PHA03307
      Location:555 → 827
      PHA03307; transcriptional regulator ICP4; Provisional
      cd00992
      Location:56 → 132
      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:397 → 501
      FERM_C_FRMPD1_FRMPD3_FRMPD4; FERM domain C-lobe of FERM and PDZ domain containing proteins 1, 3, and 4 (FRMPD1, 3, 4)
      cd17168
      Location:179 → 268
      FERM_F1_FRMPD1; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in FERM and PDZ domain-containing protein 1 (FRMPD1)
      cd21942
      Location:901 → 938
      LGNbd_FRMPD1; LGN tetratricopeptide repeat-binding domain found in FERM and PDZ domain-containing protein 1

    2. NM_001371224.1 → NP_001358153.1  FERM and PDZ domain-containing protein 1

      Status: VALIDATED

      Source sequence(s)
      AL513165, AL591470
      Consensus CDS
      CCDS6612.1
      UniProtKB/Swiss-Prot
      B4DZC8, B7Z807, D3DRQ3, Q14C73, Q5HY96, Q5SYB0, Q9Y2H3
      Conserved Domains (6) summary
      smart00295
      Location:182 → 401
      B41; Band 4.1 homologues
      PHA03307
      Location:555 → 827
      PHA03307; transcriptional regulator ICP4; Provisional
      cd00992
      Location:56 → 132
      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:397 → 501
      FERM_C_FRMPD1_FRMPD3_FRMPD4; FERM domain C-lobe of FERM and PDZ domain containing proteins 1, 3, and 4 (FRMPD1, 3, 4)
      cd17168
      Location:179 → 268
      FERM_F1_FRMPD1; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in FERM and PDZ domain-containing protein 1 (FRMPD1)
      cd21942
      Location:901 → 938
      LGNbd_FRMPD1; LGN tetratricopeptide repeat-binding domain found in FERM and PDZ domain-containing protein 1

    3. NM_001371225.1 → NP_001358154.1  FERM and PDZ domain-containing protein 1

      Status: VALIDATED

      Source sequence(s)
      AL513165, AL591470
      Consensus CDS
      CCDS6612.1
      UniProtKB/Swiss-Prot
      B4DZC8, B7Z807, D3DRQ3, Q14C73, Q5HY96, Q5SYB0, Q9Y2H3
      Conserved Domains (6) summary
      smart00295
      Location:182 → 401
      B41; Band 4.1 homologues
      PHA03307
      Location:555 → 827
      PHA03307; transcriptional regulator ICP4; Provisional
      cd00992
      Location:56 → 132
      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:397 → 501
      FERM_C_FRMPD1_FRMPD3_FRMPD4; FERM domain C-lobe of FERM and PDZ domain containing proteins 1, 3, and 4 (FRMPD1, 3, 4)
      cd17168
      Location:179 → 268
      FERM_F1_FRMPD1; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in FERM and PDZ domain-containing protein 1 (FRMPD1)
      cd21942
      Location:901 → 938
      LGNbd_FRMPD1; LGN tetratricopeptide repeat-binding domain found in FERM and PDZ domain-containing protein 1

    4. NM_014907.3 → NP_055722.2  FERM and PDZ domain-containing protein 1

      See identical proteins and their annotated locations for NP_055722.2

      Status: VALIDATED

      Source sequence(s)
      AB023184, AL513165, AL591470, BX648967
      Consensus CDS
      CCDS6612.1
      UniProtKB/Swiss-Prot
      B4DZC8, B7Z807, D3DRQ3, Q14C73, Q5HY96, Q5SYB0, Q9Y2H3
      Related
      ENSP00000366995.3, ENST00000377765.8
      Conserved Domains (6) summary
      smart00295
      Location:182 → 401
      B41; Band 4.1 homologues
      PHA03307
      Location:555 → 827
      PHA03307; transcriptional regulator ICP4; Provisional
      cd00992
      Location:56 → 132
      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:397 → 501
      FERM_C_FRMPD1_FRMPD3_FRMPD4; FERM domain C-lobe of FERM and PDZ domain containing proteins 1, 3, and 4 (FRMPD1, 3, 4)
      cd17168
      Location:179 → 268
      FERM_F1_FRMPD1; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in FERM and PDZ domain-containing protein 1 (FRMPD1)
      cd21942
      Location:901 → 938
      LGNbd_FRMPD1; LGN tetratricopeptide repeat-binding domain found in FERM and PDZ domain-containing protein 1

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      37603229..37746904
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047423003.1 → XP_047278959.1  FERM and PDZ domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      B4DZC8, B7Z807, D3DRQ3, Q14C73, Q5HY96, Q5SYB0, Q9Y2H3

    2. XM_011517805.3 → XP_011516107.1  FERM and PDZ domain-containing protein 1 isoform X3

      Conserved Domains (5) summary
      smart00295
      Location:57 → 276
      B41; Band 4.1 homologues
      PHA03307
      Location:430 → 702
      PHA03307; transcriptional regulator ICP4; Provisional
      cd13183
      Location:272 → 376
      FERM_C_FRMPD1_FRMPD3_FRMPD4; FERM domain C-lobe of FERM and PDZ domain containing proteins 1, 3, and 4 (FRMPD1, 3, 4)
      cd17168
      Location:54 → 143
      FERM_F1_FRMPD1; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in FERM and PDZ domain-containing protein 1 (FRMPD1)
      cd21942
      Location:776 → 813
      LGNbd_FRMPD1; LGN tetratricopeptide repeat-binding domain found in FERM and PDZ domain-containing protein 1

    3. XM_017014482.2 → XP_016869971.1  FERM and PDZ domain-containing protein 1 isoform X3

      Conserved Domains (5) summary
      smart00295
      Location:57 → 276
      B41; Band 4.1 homologues
      PHA03307
      Location:430 → 702
      PHA03307; transcriptional regulator ICP4; Provisional
      cd13183
      Location:272 → 376
      FERM_C_FRMPD1_FRMPD3_FRMPD4; FERM domain C-lobe of FERM and PDZ domain containing proteins 1, 3, and 4 (FRMPD1, 3, 4)
      cd17168
      Location:54 → 143
      FERM_F1_FRMPD1; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in FERM and PDZ domain-containing protein 1 (FRMPD1)
      cd21942
      Location:776 → 813
      LGNbd_FRMPD1; LGN tetratricopeptide repeat-binding domain found in FERM and PDZ domain-containing protein 1

    4. XM_017014481.2 → XP_016869970.1  FERM and PDZ domain-containing protein 1 isoform X2

    5. XM_024447454.2 → XP_024303222.1  FERM and PDZ domain-containing protein 1 isoform X5

      Conserved Domains (3) summary
      smart00295
      Location:4 → 223
      B41; Band 4.1 homologues
      cd13183
      Location:219 → 323
      FERM_C_FRMPD1_FRMPD3_FRMPD4; FERM domain C-lobe of FERM and PDZ domain containing proteins 1, 3, and 4 (FRMPD1, 3, 4)
      cl28033
      Location:377 → 649
      Herpes_ICP4_C; Herpesvirus ICP4-like protein C-terminal region

    6. XM_011517806.3 → XP_011516108.1  FERM and PDZ domain-containing protein 1 isoform X4

      Conserved Domains (4) summary
      smart00295
      Location:56 → 275
      B41; Band 4.1 homologues
      cd13183
      Location:271 → 375
      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:148 → 275
      FERM_M; FERM central domain
      pfam16511
      Location:56 → 89
      FERM_f0; N-terminal or F0 domain of Talin-head FERM

    7. XM_024447456.2 → XP_024303224.1  FERM and PDZ domain-containing protein 1 isoform X5

      Conserved Domains (3) summary
      smart00295
      Location:4 → 223
      B41; Band 4.1 homologues
      cd13183
      Location:219 → 323
      FERM_C_FRMPD1_FRMPD3_FRMPD4; FERM domain C-lobe of FERM and PDZ domain containing proteins 1, 3, and 4 (FRMPD1, 3, 4)
      cl28033
      Location:377 → 649
      Herpes_ICP4_C; Herpesvirus ICP4-like protein C-terminal region

    8. XM_047423004.1 → XP_047278960.1  FERM and PDZ domain-containing protein 1 isoform X5

    RNA

    1. XR_929220.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      37626930..37770615
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054362377.1 → XP_054218352.1  FERM and PDZ domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      B4DZC8, B7Z807, D3DRQ3, Q14C73, Q5HY96, Q5SYB0, Q9Y2H3

    2. XM_054362379.1 → XP_054218354.1  FERM and PDZ domain-containing protein 1 isoform X3

    3. XM_054362380.1 → XP_054218355.1  FERM and PDZ domain-containing protein 1 isoform X3

    4. XM_054362378.1 → XP_054218353.1  FERM and PDZ domain-containing protein 1 isoform X2

    5. XM_054362382.1 → XP_054218357.1  FERM and PDZ domain-containing protein 1 isoform X5

    6. XM_054362381.1 → XP_054218356.1  FERM and PDZ domain-containing protein 1 isoform X4

    7. XM_054362384.1 → XP_054218359.1  FERM and PDZ domain-containing protein 1 isoform X5

    8. XM_054362383.1 → XP_054218358.1  FERM and PDZ domain-containing protein 1 isoform X5

    RNA

    1. XR_008487967.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5SYB0.1 GenPept UniProtKB/Swiss-Prot:Q5SYB0

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