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

Gene ID: 79981, updated on 2-Nov-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, Nov 2024]
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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See FRMD1 in Genome Data Viewer
Location:
6q27
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (168053095..168093056, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (169394018..169442330, complement)
RS_2024_09 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 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_2024_08

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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