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

Gene ID: 22844, updated on 11-Jun-2021

Summary

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
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
Expression
Biased expression in testis (RPKM 3.6), skin (RPKM 1.1) and 2 other tissues See more
Orthologs
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Genomic context

See FRMPD1 in Genome Data Viewer
Location:
9p13.2
Exon count:
22
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (37603229..37746904)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (37603226..37746901)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene F-box protein 10 Neighboring gene translocase of outer mitochondrial membrane 5 Neighboring gene RAB1C, member RAS oncogene family pseudogene Neighboring gene RN7SK pseudogene 171 Neighboring gene tRNA methyltransferase 10B Neighboring gene uncharacterized LOC105376037 Neighboring gene exosome component 3 Neighboring gene DDB1 and CUL4 associated factor 10

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 
Component Evidence Code Pubs
colocalizes_with cell cortex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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

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

    Status: VALIDATED

    Source sequence(s)
    AL513165, AL591470
    Related
    ENSP00000444411.1, ENST00000539465.5
    Conserved Domains (5) summary
    smart00295
    Location:182401
    B41; Band 4.1 homologues
    PHA03307
    Location:555827
    PHA03307; transcriptional regulator ICP4; Provisional
    cd00992
    Location:56132
    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:397501
    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:179268
    FERM_F1_FRMPD1; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in FERM and PDZ domain-containing protein 1 (FRMPD1)
  2. NM_001371224.1NP_001358153.1  FERM and PDZ domain-containing protein 1

    Status: VALIDATED

    Source sequence(s)
    AL513165, AL591470
    Conserved Domains (5) summary
    smart00295
    Location:182401
    B41; Band 4.1 homologues
    PHA03307
    Location:555827
    PHA03307; transcriptional regulator ICP4; Provisional
    cd00992
    Location:56132
    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:397501
    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:179268
    FERM_F1_FRMPD1; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in FERM and PDZ domain-containing protein 1 (FRMPD1)
  3. NM_001371225.1NP_001358154.1  FERM and PDZ domain-containing protein 1

    Status: VALIDATED

    Source sequence(s)
    AL513165, AL591470
    Conserved Domains (5) summary
    smart00295
    Location:182401
    B41; Band 4.1 homologues
    PHA03307
    Location:555827
    PHA03307; transcriptional regulator ICP4; Provisional
    cd00992
    Location:56132
    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:397501
    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:179268
    FERM_F1_FRMPD1; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in FERM and PDZ domain-containing protein 1 (FRMPD1)
  4. NM_014907.3NP_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
    Q5SYB0
    Related
    ENSP00000366995.3, ENST00000377765.8
    Conserved Domains (5) summary
    smart00295
    Location:182401
    B41; Band 4.1 homologues
    PHA03307
    Location:555827
    PHA03307; transcriptional regulator ICP4; Provisional
    cd00992
    Location:56132
    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:397501
    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:179268
    FERM_F1_FRMPD1; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in FERM and PDZ domain-containing protein 1 (FRMPD1)

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_000009.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

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

    Conserved Domains (4) summary
    smart00295
    Location:57276
    B41; Band 4.1 homologues
    cd13183
    Location:272376
    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:149276
    FERM_M; FERM central domain
    pfam16511
    Location:5790
    FERM_f0; N-terminal or F0 domain of Talin-head FERM
  2. XM_017014482.1XP_016869971.1  FERM and PDZ domain-containing protein 1 isoform X3

    Conserved Domains (4) summary
    smart00295
    Location:57276
    B41; Band 4.1 homologues
    cd13183
    Location:272376
    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:149276
    FERM_M; FERM central domain
    pfam16511
    Location:5790
    FERM_f0; N-terminal or F0 domain of Talin-head FERM
  3. XM_017014481.1XP_016869970.1  FERM and PDZ domain-containing protein 1 isoform X2

  4. XM_024447454.1XP_024303222.1  FERM and PDZ domain-containing protein 1 isoform X5

    Conserved Domains (3) summary
    smart00295
    Location:4223
    B41; Band 4.1 homologues
    cd13183
    Location:219323
    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:377649
    Herpes_ICP4_C; Herpesvirus ICP4-like protein C-terminal region
  5. XM_011517806.2XP_011516108.1  FERM and PDZ domain-containing protein 1 isoform X4

    Conserved Domains (4) summary
    smart00295
    Location:56275
    B41; Band 4.1 homologues
    cd13183
    Location:271375
    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:148275
    FERM_M; FERM central domain
    pfam16511
    Location:5689
    FERM_f0; N-terminal or F0 domain of Talin-head FERM
  6. XM_024447456.1XP_024303224.1  FERM and PDZ domain-containing protein 1 isoform X5

    Conserved Domains (3) summary
    smart00295
    Location:4223
    B41; Band 4.1 homologues
    cd13183
    Location:219323
    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:377649
    Herpes_ICP4_C; Herpesvirus ICP4-like protein C-terminal region

RNA

  1. XR_929220.2 RNA Sequence

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