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

Gene ID: 79981, updated on 18-Aug-2021

Summary

Official Symbol
FRMD1provided by HGNC
Official Full Name
FERM domain containing 1provided by HGNC
Primary source
HGNC:HGNC:21240
See related
Ensembl:ENSG00000153303
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
Expression
Biased expression in colon (RPKM 2.7), kidney (RPKM 2.0) and 7 other tissues See more
Orthologs
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Genomic context

See FRMD1 in Genome Data Viewer
Location:
6q27
Exon count:
19
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (168053095..168093007, complement)
105.20201022 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 kinesin family member 25 Neighboring gene uncharacterized LOC105378135 Neighboring gene uncharacterized LOC107986548 Neighboring gene Sharpr-MPRA regulatory region 8070

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

Associated conditions

Description Tests
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
GeneReviews: Not available
Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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

General protein information

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_001122841.3NP_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/Swiss-Prot
    Q8N878
    Related
    ENSP00000414115.2, ENST00000440994.6
    Conserved Domains (4) summary
    smart00295
    Location:3196
    B41; Band 4.1 homologues
    pfam00373
    Location:85196
    FERM_M; FERM central domain
    pfam09379
    Location:352
    FERM_N; FERM N-terminal domain
    cl17171
    Location:189274
    PH-like; Pleckstrin homology-like domain
  2. NM_001394681.1NP_001381610.1  FERM domain-containing protein 1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL589733
    Conserved Domains (3) summary
    cd13185
    Location:169277
    FERM_C_FRMD1_FRMD6; FERM domain C-lobe of FERM domain containing 1 and 6 proteins
    cd14473
    Location:70168
    FERM_B-lobe; FERM domain B-lobe
    cl28922
    Location:1162
    Ubiquitin_like_fold; Beta-grasp ubiquitin-like fold
  3. NM_024919.6NP_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
    Q8N878
    Related
    ENSP00000283309.6, ENST00000283309.10
    Conserved Domains (4) summary
    smart00295
    Location:56264
    B41; Band 4.1 homologues
    pfam00373
    Location:153264
    FERM_M; FERM central domain
    pfam09379
    Location:58120
    FERM_N; FERM N-terminal domain
    cl17171
    Location:257342
    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: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    168053095..168093007 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for XP_011534445.1

    Related
    ENSP00000495639.1, ENST00000336070.11
    Conserved Domains (3) summary
    smart00295
    Location:68198
    B41; Band 4.1 homologues
    cd13185
    Location:191299
    FERM_C_FRMD1_FRMD6; FERM domain C-lobe of FERM domain containing 1 and 6 proteins
    pfam00373
    Location:87198
    FERM_M; FERM central domain
  2. XM_011536138.1XP_011534440.1  FERM domain-containing protein 1 isoform X4

    Conserved Domains (4) summary
    smart00295
    Location:36244
    B41; Band 4.1 homologues
    cd13185
    Location:237345
    FERM_C_FRMD1_FRMD6; FERM domain C-lobe of FERM domain containing 1 and 6 proteins
    pfam00373
    Location:133244
    FERM_M; FERM central domain
    pfam09379
    Location:38100
    FERM_N; FERM N-terminal domain
  3. XM_011536137.1XP_011534439.1  FERM domain-containing protein 1 isoform X1

    Related
    ENSP00000494166.1, ENST00000646385.1
    Conserved Domains (4) summary
    smart00295
    Location:98306
    B41; Band 4.1 homologues
    cd13185
    Location:299407
    FERM_C_FRMD1_FRMD6; FERM domain C-lobe of FERM domain containing 1 and 6 proteins
    pfam00373
    Location:195306
    FERM_M; FERM central domain
    pfam09379
    Location:100162
    FERM_N; FERM N-terminal domain
  4. XM_011536141.1XP_011534443.1  FERM domain-containing protein 1 isoform X6

    See identical proteins and their annotated locations for XP_011534443.1

    Conserved Domains (3) summary
    smart00295
    Location:68198
    B41; Band 4.1 homologues
    cd13185
    Location:191299
    FERM_C_FRMD1_FRMD6; FERM domain C-lobe of FERM domain containing 1 and 6 proteins
    pfam00373
    Location:87198
    FERM_M; FERM central domain
  5. XM_011536142.2XP_011534444.1  FERM domain-containing protein 1 isoform X6

    See identical proteins and their annotated locations for XP_011534444.1

    Conserved Domains (3) summary
    smart00295
    Location:68198
    B41; Band 4.1 homologues
    cd13185
    Location:191299
    FERM_C_FRMD1_FRMD6; FERM domain C-lobe of FERM domain containing 1 and 6 proteins
    pfam00373
    Location:87198
    FERM_M; FERM central domain
  6. XM_011536145.1XP_011534447.1  FERM domain-containing protein 1 isoform X3

    Conserved Domains (4) summary
    smart00295
    Location:3196
    B41; Band 4.1 homologues
    cd13185
    Location:189297
    FERM_C_FRMD1_FRMD6; FERM domain C-lobe of FERM domain containing 1 and 6 proteins
    pfam00373
    Location:85196
    FERM_M; FERM central domain
    pfam09379
    Location:352
    FERM_N; FERM N-terminal domain
  7. XM_011536140.1XP_011534442.1  FERM domain-containing protein 1 isoform X5

    Conserved Domains (4) summary
    smart00295
    Location:23217
    B41; Band 4.1 homologues
    cd13185
    Location:210318
    FERM_C_FRMD1_FRMD6; FERM domain C-lobe of FERM domain containing 1 and 6 proteins
    pfam00373
    Location:106217
    FERM_M; FERM central domain
    pfam09379
    Location:2473
    FERM_N; FERM N-terminal domain
  8. XM_011536146.2XP_011534448.1  FERM domain-containing protein 1 isoform X7

    See identical proteins and their annotated locations for XP_011534448.1

    UniProtKB/Swiss-Prot
    Q8N878
    Conserved Domains (2) summary
    cd13185
    Location:28136
    FERM_C_FRMD1_FRMD6; FERM domain C-lobe of FERM domain containing 1 and 6 proteins
    cl09511
    Location:135
    FERM_B-lobe; FERM domain B-lobe
  9. XM_017011317.1XP_016866806.1  FERM domain-containing protein 1 isoform X2

  10. XM_017011318.1XP_016866807.1  FERM domain-containing protein 1 isoform X7

    UniProtKB/Swiss-Prot
    Q8N878
    Conserved Domains (2) summary
    cd13185
    Location:28136
    FERM_C_FRMD1_FRMD6; FERM domain C-lobe of FERM domain containing 1 and 6 proteins
    cl09511
    Location:135
    FERM_B-lobe; FERM domain B-lobe
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