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

Gene ID: 22844, updated on 5-Mar-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_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (37603229..37746904)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (37626930..37770615)
105.20220307 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
  • 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)

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

  • 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_2023_10

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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