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    FRMD1 FERM domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 79981, updated on 3-Apr-2024

    Summary

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    Official Symbol
    FRMD1provided by HGNC
    Official Full Name
    FERM domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:21240
    See related
    Ensembl:ENSG00000153303 AllianceGenome:HGNC:21240
    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
    bA164L23.1
    Summary
    Predicted to be involved in positive regulation of hippo signaling. Predicted to be located in cytoskeleton. Predicted to be active in cytoplasmic side of apical plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in colon (RPKM 2.7), kidney (RPKM 2.0) and 7 other tissues See more
    Orthologs
    all
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    Genomic context

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    Location:
    6q27
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (168053095..168093056, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (169394018..169442330, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (168453775..168482237, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:168407804-168409003 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:168412930-168413846 Neighboring gene kinesin family member 25 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:168426039-168426217 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:168430121-168430302 Neighboring gene uncharacterized LOC105378135 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:168449097-168449596 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:168459591-168460092 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:168478883-168479604 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:168482533-168483533 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:168483534-168484533 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:168499911-168500412 Neighboring gene uncharacterized LOC107986548 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:168506640-168507627 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:168518029-168518528 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:168521725-168522286 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:168525719-168526232 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:168529825-168530422 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:168551001-168551637 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:168556329-168557328 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:168557329-168558326 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:168558327-168559325 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:168568969-168570168 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:168580313-168581020 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:168590405-168591604 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:168594074-168594641 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:168594898-168595547 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:168595548-168596196 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr6:168608743-168609449 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:168609450-168610156 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:168615624-168616124 Neighboring gene uncharacterized LOC105378137

    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. Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits. Ebejer JL, et al. Twin Res Hum Genet, 2013 Apr. PMID 23527680
    2. Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. Kennedy RB, et al. Hum Genet, 2012 Sep. PMID 22610502, Free PMC Article
    3. Pooled-matrix protein interaction screens using Barcode Fusion Genetics. Yachie N, et al. Mol Syst Biol, 2016 Apr 22. PMID 27107012, Free PMC Article
    4. 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
    5. The DNA sequence and analysis of human chromosome 6. Mungall AJ, et al. Nature, 2003 Oct 23. PMID 14574404

    See all (12) 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

    EBI GWAS Catalog

    Description
    Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
    EBI GWAS Catalog
    Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.
    EBI GWAS Catalog

    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

    • FLJ00181, FLJ22615, FLJ40260, DKFZp434O0117

    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 positive regulation of hippo signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasmic side of apical plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    FERM domain-containing protein 1

    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_001122841.3 → NP_001116313.1  FERM domain-containing protein 1 isoform 2

      See identical proteins and their annotated locations for NP_001116313.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and has multiple coding region differences, compared to variant 1. This variant encodes isoform 2 which has a shorter, distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AK097579, AL133077, AL589733
      Consensus CDS
      CCDS47518.1
      UniProtKB/TrEMBL
      B7Z8G9
      Related
      ENSP00000414115.2, ENST00000440994.6
      Conserved Domains (4) summary
      smart00295
      Location:3 → 196
      B41; Band 4.1 homologues
      pfam00373
      Location:85 → 196
      FERM_M; FERM central domain
      pfam09379
      Location:3 → 52
      FERM_N; FERM N-terminal domain
      cl17171
      Location:189 → 274
      PH-like; Pleckstrin homology-like domain

    2. NM_001394681.1 → NP_001381610.1  FERM domain-containing protein 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL589733
      Consensus CDS
      CCDS94036.1
      UniProtKB/TrEMBL
      A0A2R8Y6M2, B7Z8G9
      Related
      ENSP00000495639.1, ENST00000336070.11
      Conserved Domains (3) summary
      cd13185
      Location:169 → 277
      FERM_C_FRMD1_FRMD6; FERM domain C-lobe of FERM domain containing 1 and 6 proteins
      cd14473
      Location:70 → 168
      FERM_B-lobe; FERM domain B-lobe
      cl28922
      Location:11 → 62
      Ubiquitin_like_fold; Beta-grasp ubiquitin-like fold

    3. NM_024919.6 → NP_079195.3  FERM domain-containing protein 1 isoform 1

      See identical proteins and their annotated locations for NP_079195.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AL589733
      Consensus CDS
      CCDS5306.1
      UniProtKB/Swiss-Prot
      B2RNV8, B3KUM6, Q5SZU7, Q8N878, Q9UFB0
      UniProtKB/TrEMBL
      B7Z8G9
      Related
      ENSP00000283309.6, ENST00000283309.11
      Conserved Domains (4) summary
      smart00295
      Location:56 → 264
      B41; Band 4.1 homologues
      pfam00373
      Location:153 → 264
      FERM_M; FERM central domain
      pfam09379
      Location:58 → 120
      FERM_N; FERM N-terminal domain
      cl17171
      Location:257 → 342
      PH-like; Pleckstrin homology-like domain

    RNA

    1. NR_110312.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate 5' and 3' exon structure, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK125963, AL133077, AL589733, DB019858

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      168053095..168093056 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011536143.2 → XP_011534445.1  FERM domain-containing protein 1 isoform X6

      See identical proteins and their annotated locations for XP_011534445.1

      UniProtKB/TrEMBL
      B7Z8G9
      Conserved Domains (3) summary
      smart00295
      Location:68 → 198
      B41; Band 4.1 homologues
      cd13185
      Location:191 → 299
      FERM_C_FRMD1_FRMD6; FERM domain C-lobe of FERM domain containing 1 and 6 proteins
      pfam00373
      Location:87 → 198
      FERM_M; FERM central domain

    2. XM_011536138.2 → XP_011534440.1  FERM domain-containing protein 1 isoform X4

      UniProtKB/TrEMBL
      B7Z8G9
      Related
      ENSP00000496464.1, ENST00000644440.1
      Conserved Domains (4) summary
      smart00295
      Location:36 → 244
      B41; Band 4.1 homologues
      cd13185
      Location:237 → 345
      FERM_C_FRMD1_FRMD6; FERM domain C-lobe of FERM domain containing 1 and 6 proteins
      pfam00373
      Location:133 → 244
      FERM_M; FERM central domain
      pfam09379
      Location:38 → 100
      FERM_N; FERM N-terminal domain

    3. XM_011536137.2 → XP_011534439.1  FERM domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A2R8Y4L9
      Related
      ENSP00000494166.1, ENST00000646385.1
      Conserved Domains (4) summary
      smart00295
      Location:98 → 306
      B41; Band 4.1 homologues
      cd13185
      Location:299 → 407
      FERM_C_FRMD1_FRMD6; FERM domain C-lobe of FERM domain containing 1 and 6 proteins
      pfam00373
      Location:195 → 306
      FERM_M; FERM central domain
      pfam09379
      Location:100 → 162
      FERM_N; FERM N-terminal domain

    4. XM_017011317.2 → XP_016866806.1  FERM domain-containing protein 1 isoform X2

    5. XM_011536141.2 → XP_011534443.1  FERM domain-containing protein 1 isoform X6

      See identical proteins and their annotated locations for XP_011534443.1

      UniProtKB/TrEMBL
      B7Z8G9
      Conserved Domains (3) summary
      smart00295
      Location:68 → 198
      B41; Band 4.1 homologues
      cd13185
      Location:191 → 299
      FERM_C_FRMD1_FRMD6; FERM domain C-lobe of FERM domain containing 1 and 6 proteins
      pfam00373
      Location:87 → 198
      FERM_M; FERM central domain

    6. XM_011536142.3 → XP_011534444.1  FERM domain-containing protein 1 isoform X6

      See identical proteins and their annotated locations for XP_011534444.1

      UniProtKB/TrEMBL
      B7Z8G9
      Conserved Domains (3) summary
      smart00295
      Location:68 → 198
      B41; Band 4.1 homologues
      cd13185
      Location:191 → 299
      FERM_C_FRMD1_FRMD6; FERM domain C-lobe of FERM domain containing 1 and 6 proteins
      pfam00373
      Location:87 → 198
      FERM_M; FERM central domain

    7. XM_011536145.2 → XP_011534447.1  FERM domain-containing protein 1 isoform X3

      UniProtKB/TrEMBL
      B7Z8G9
      Conserved Domains (4) summary
      smart00295
      Location:3 → 196
      B41; Band 4.1 homologues
      cd13185
      Location:189 → 297
      FERM_C_FRMD1_FRMD6; FERM domain C-lobe of FERM domain containing 1 and 6 proteins
      pfam00373
      Location:85 → 196
      FERM_M; FERM central domain
      pfam09379
      Location:3 → 52
      FERM_N; FERM N-terminal domain

    8. XM_011536140.2 → XP_011534442.1  FERM domain-containing protein 1 isoform X5

      UniProtKB/TrEMBL
      B7Z8G9
      Conserved Domains (4) summary
      smart00295
      Location:23 → 217
      B41; Band 4.1 homologues
      cd13185
      Location:210 → 318
      FERM_C_FRMD1_FRMD6; FERM domain C-lobe of FERM domain containing 1 and 6 proteins
      pfam00373
      Location:106 → 217
      FERM_M; FERM central domain
      pfam09379
      Location:24 → 73
      FERM_N; FERM N-terminal domain

    9. XM_017011318.2 → XP_016866807.1  FERM domain-containing protein 1 isoform X7

      UniProtKB/TrEMBL
      B7Z8D0
      Conserved Domains (2) summary
      cd13185
      Location:28 → 136
      FERM_C_FRMD1_FRMD6; FERM domain C-lobe of FERM domain containing 1 and 6 proteins
      cl09511
      Location:1 → 35
      FERM_B-lobe; FERM domain B-lobe

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      169394018..169442330 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054356454.1 → XP_054212429.1  FERM domain-containing protein 1 isoform X6

    2. XM_054356448.1 → XP_054212423.1  FERM domain-containing protein 1 isoform X8

      UniProtKB/TrEMBL
      A0A2R8Y7X7

    3. XM_054356453.1 → XP_054212428.1  FERM domain-containing protein 1 isoform X6

    4. XM_054356447.1 → XP_054212422.1  FERM domain-containing protein 1 isoform X4

    5. XM_054356444.1 → XP_054212419.1  FERM domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A2R8Y4L9

    6. XM_054356445.1 → XP_054212420.1  FERM domain-containing protein 1 isoform X2

    7. XM_054356450.1 → XP_054212425.1  FERM domain-containing protein 1 isoform X6

    8. XM_054356452.1 → XP_054212427.1  FERM domain-containing protein 1 isoform X6

    9. XM_054356451.1 → XP_054212426.1  FERM domain-containing protein 1 isoform X6

    10. XM_054356446.1 → XP_054212421.1  FERM domain-containing protein 1 isoform X3

    11. XM_054356449.1 → XP_054212424.1  FERM domain-containing protein 1 isoform X5

    12. XM_054356455.1 → XP_054212430.1  FERM domain-containing protein 1 isoform X7

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N878.2 GenPept UniProtKB/Swiss-Prot:Q8N878

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