Frmpd4 FERM and PDZ domain containing 4 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Frmpd4provided by MGI
Official Full Name: FERM and PDZ domain containing 4provided by MGI
Primary source: MGI:MGI:3042378
See related: Ensembl:ENSMUSG00000049176 AllianceGenome:MGI:3042378
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Gm196; PKAP1; preso; Pdzd10; Pdzk10; Preso1
Summary: Predicted to enable phosphatidylinositol-4,5-bisphosphate binding activity. Predicted to be involved in positive regulation of synapse structural plasticity and postsynaptic actin cytoskeleton organization. Predicted to be located in cell projection; cytoskeleton; and synapse. Predicted to be part of protein-containing complex. Predicted to be active in dendritic spine. Is expressed in dorsal root ganglion; facial ganglion; lateral ventricle choroid plexus; metencephalon part of 4th ventricle choroid plexus; and trigeminal ganglion. Human ortholog(s) of this gene implicated in non-syndromic X-linked intellectual disability 104. Orthologous to human FRMPD4 (FERM and PDZ domain containing 4). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in cortex adult (RPKM 3.1), frontal lobe adult (RPKM 2.7) and 6 other tissues See more
Orthologs: human all
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Genomic context

Location:: X F5; X 78.36 cM

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (166254297..167360230, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (167471306..168577241, complement)

Chromosome X - NC_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Uncoupling the linkage between Preso and PSD-95 attenuated the stability of this complex and suppressed the regulatory effect of Preso on the NO response. In addition, phosphorylation of NMDAR by cyclin-dependent kinase 5 (CDK5) was shown to be responsible for the Preso-mediated Ca(2+) response, which was dependent on the interaction between Preso and CDK5.
Title: Preso regulates NMDA receptor-mediated excitotoxicity via modulating nitric oxide and calcium responses after traumatic brain injury.
The findings point to an important role of FRMPD4 in normal cognitive development and function in humans and mice, and support the hypothesis that FRMPD4 mutations cause ID by disrupting dendritic spine morphogenesis in glutamatergic neurons.
Title: FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH144489 (e-PCR)
- UniSTS:233734

px-63e8 (e-PCR)
- UniSTS:258077

NoName (e-PCR)
- UniSTS:238112

DXMit29 (e-PCR), detects polymorphism
- UniSTS:132136

DXMit30 (e-PCR), detects polymorphism
- UniSTS:132138

px-16h2 (e-PCR)
- UniSTS:257339

02.MHAa50e2.seq (e-PCR)
- UniSTS:122685

px-28c8 (e-PCR)
- UniSTS:258367

DXMit71 (e-PCR), detects polymorphism
- UniSTS:132177

DXMit71.1 (e-PCR), detects polymorphism
- UniSTS:132178

px-56a9 (e-PCR)
- UniSTS:258424

px-56a12 (e-PCR)
- UniSTS:257924

20.MMHAP25FLG2.seq (e-PCR)
- UniSTS:160906

px-40b2 (e-PCR)
- UniSTS:257741

MTH763 (e-PCR)
- UniSTS:132075

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables lipid binding	IEA Inferred from Electronic Annotation more info
enables phosphatidylinositol-4,5-bisphosphate binding	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol-4,5-bisphosphate binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in positive regulation of synapse structural plasticity	ISO Inferred from Sequence Orthology more info
involved_in postsynaptic actin cytoskeleton organization	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
is_active_in dendritic spine	IBA Inferred from Biological aspect of Ancestor more info
located_in dendritic spine	ISO Inferred from Sequence Orthology more info
is_active_in glutamatergic synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in glutamatergic synapse	ISO Inferred from Sequence Orthology more info
is_active_in postsynaptic density	IDA Inferred from Direct Assay more info	PubMed
is_active_in postsynaptic density	ISO Inferred from Sequence Orthology more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info
located_in synapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: FERM and PDZ domain-containing protein 4

Names: PDZ domain-containing protein 10; PSD-95-interacting regulator of spine morphogenesis

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)

NM_001033330.4 → NP_001028502.1 FERM and PDZ domain-containing protein 4 isoform a

See identical proteins and their annotated locations for NP_001028502.1

Status: VALIDATED

Source sequence(s)

AK038542, AK147370, AK147440, AL669945, CJ251567

Consensus CDS

CCDS41210.1

UniProtKB/Swiss-Prot

A2AFR3, B9EIG4, Q3UHE4, Q3UHI9, Q80U41

Conserved Domains (6) summary

smart00295
Location:197 → 416

B41; Band 4.1 homologues

cd00201
Location:28 → 57

WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...

cd00992
Location:68 → 144

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:412 → 516

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:292 → 416

FERM_M; FERM central domain

pfam16511
Location:197 → 230

FERM_f0; N-terminal or F0 domain of Talin-head FERM
NM_001290427.2 → NP_001277356.1 FERM and PDZ domain-containing protein 4 isoform a

See identical proteins and their annotated locations for NP_001277356.1

Status: VALIDATED

Source sequence(s)

AK038542, AK147440, CJ104300, CJ116157, CJ251567

Consensus CDS

CCDS41210.1

UniProtKB/Swiss-Prot

A2AFR3, B9EIG4, Q3UHE4, Q3UHI9, Q80U41

Related

ENSMUSP00000107773.3, ENSMUST00000112145.3

Conserved Domains (6) summary

smart00295
Location:197 → 416

B41; Band 4.1 homologues

cd00201
Location:28 → 57

WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...

cd00992
Location:68 → 144

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:412 → 516

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:292 → 416

FERM_M; FERM central domain

pfam16511
Location:197 → 230

FERM_f0; N-terminal or F0 domain of Talin-head FERM
NM_001290428.1 → NP_001277357.1 FERM and PDZ domain-containing protein 4 isoform b

See identical proteins and their annotated locations for NP_001277357.1

Status: VALIDATED

Source sequence(s)

AK038542, AK147440, CJ251567

Consensus CDS

CCDS72470.1

UniProtKB/Swiss-Prot

A2AFR3, B9EIG4, Q3UHE4, Q3UHI9, Q80U41

Related

ENSMUSP00000158917.2, ENSMUST00000238211.2

Conserved Domains (5) summary

smart00295
Location:165 → 384

B41; Band 4.1 homologues

cd00992
Location:36 → 112

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:380 → 484

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:260 → 384

FERM_M; FERM central domain

pfam16511
Location:165 → 198

FERM_f0; N-terminal or F0 domain of Talin-head FERM
NM_001359072.1 → NP_001346001.1 FERM and PDZ domain-containing protein 4 isoform c

Status: VALIDATED

Source sequence(s)

AL672186, AL807773, BX546498

UniProtKB/Swiss-Prot

A2AFR3, B9EIG4, Q3UHE4, Q3UHI9, Q80U41

Conserved Domains (4) summary

smart00295
Location:202 → 421

B41; Band 4.1 homologues

cd00201
Location:33 → 62

WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...

cd00992
Location:73 → 149

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:417 → 521

FERM_C_FRMPD1_FRMPD3_FRMPD4; FERM domain C-lobe of FERM and PDZ domain containing proteins 1, 3, and 4 (FRMPD1, 3, 4)
NM_001368936.1 → NP_001355865.1 FERM and PDZ domain-containing protein 4 isoform 5

Status: VALIDATED

Source sequence(s)

AL672186, AL807773, BX546498

Consensus CDS

CCDS90773.1

UniProtKB/TrEMBL

A0A589MR22

Related

ENSMUSP00000107774.3, ENSMUST00000112146.9

Conserved Domains (5) summary

smart00295
Location:205 → 424

B41; Band 4.1 homologues

cd00201
Location:36 → 65

WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...

cd00992
Location:76 → 152

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:420 → 524

FERM_C_FRMPD1_FRMPD3_FRMPD4; FERM domain C-lobe of FERM and PDZ domain containing proteins 1, 3, and 4 (FRMPD1, 3, 4)

cd17170
Location:201 → 294

FERM_F1_FRMPD4; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in FERM and PDZ domain-containing protein 4 (FRMPD4)
NM_001369234.1 → NP_001356163.1 FERM and PDZ domain-containing protein 4 isoform d

Status: VALIDATED

Source sequence(s)

AL669945, AL807773, BX546498

Consensus CDS

CCDS90774.1

UniProtKB/TrEMBL

A0A571BG68

Conserved Domains (5) summary

smart00295
Location:223 → 442

B41; Band 4.1 homologues

cd00201
Location:54 → 83

WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...

cd00992
Location:94 → 170

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:438 → 542

FERM_C_FRMPD1_FRMPD3_FRMPD4; FERM domain C-lobe of FERM and PDZ domain containing proteins 1, 3, and 4 (FRMPD1, 3, 4)

cd17170
Location:219 → 312

FERM_F1_FRMPD4; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in FERM and PDZ domain-containing protein 4 (FRMPD4)

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000086.8 Reference GRCm39 C57BL/6J

Range

166254297..167360230 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036161994.1 → XP_036017887.1 FERM and PDZ domain-containing protein 4 isoform X5

UniProtKB/Swiss-Prot

A2AFR3, B9EIG4, Q3UHE4, Q3UHI9, Q80U41

Conserved Domains (6) summary

smart00295
Location:223 → 442

B41; Band 4.1 homologues

cd00201
Location:54 → 83

WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...

cd00992
Location:94 → 170

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:438 → 542

FERM_C_FRMPD1_FRMPD3_FRMPD4; FERM domain C-lobe of FERM and PDZ domain containing proteins 1, 3, and 4 (FRMPD1, 3, 4)

cd17170
Location:219 → 312

FERM_F1_FRMPD4; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in FERM and PDZ domain-containing protein 4 (FRMPD4)

cd21943
Location:991 → 1039

LGNbd_FRMPD4; LGN tetratricopeptide repeat-binding domain found in FERM and PDZ domain-containing protein 4
XM_006528885.5 → XP_006528948.1 FERM and PDZ domain-containing protein 4 isoform X1

See identical proteins and their annotated locations for XP_006528948.1

UniProtKB/TrEMBL

A0A571BG68

Related

ENSMUSP00000158713.2, ENSMUST00000238709.2

Conserved Domains (5) summary

smart00295
Location:223 → 442

B41; Band 4.1 homologues

cd00201
Location:54 → 83

WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...

cd00992
Location:94 → 170

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:438 → 542

FERM_C_FRMPD1_FRMPD3_FRMPD4; FERM domain C-lobe of FERM and PDZ domain containing proteins 1, 3, and 4 (FRMPD1, 3, 4)

cd17170
Location:219 → 312

FERM_F1_FRMPD4; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in FERM and PDZ domain-containing protein 4 (FRMPD4)
XM_011247834.4 → XP_011246136.1 FERM and PDZ domain-containing protein 4 isoform X3

See identical proteins and their annotated locations for XP_011246136.1

Conserved Domains (5) summary

smart00295
Location:197 → 416

B41; Band 4.1 homologues

cd00201
Location:28 → 57

WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...

cd00992
Location:68 → 144

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:412 → 516

FERM_C_FRMPD1_FRMPD3_FRMPD4; FERM domain C-lobe of FERM and PDZ domain containing proteins 1, 3, and 4 (FRMPD1, 3, 4)

cd17170
Location:193 → 286

FERM_F1_FRMPD4; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in FERM and PDZ domain-containing protein 4 (FRMPD4)
XM_006528888.5 → XP_006528951.1 FERM and PDZ domain-containing protein 4 isoform X2

Conserved Domains (5) summary

smart00295
Location:202 → 421

B41; Band 4.1 homologues

cd00201
Location:33 → 62

WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...

cd00992
Location:73 → 149

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:417 → 521

FERM_C_FRMPD1_FRMPD3_FRMPD4; FERM domain C-lobe of FERM and PDZ domain containing proteins 1, 3, and 4 (FRMPD1, 3, 4)

cd17170
Location:198 → 291

FERM_F1_FRMPD4; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in FERM and PDZ domain-containing protein 4 (FRMPD4)
XM_011247833.4 → XP_011246135.1 FERM and PDZ domain-containing protein 4 isoform X3

See identical proteins and their annotated locations for XP_011246135.1

Conserved Domains (5) summary

smart00295
Location:197 → 416

B41; Band 4.1 homologues

cd00201
Location:28 → 57

WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...

cd00992
Location:68 → 144

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:412 → 516

FERM_C_FRMPD1_FRMPD3_FRMPD4; FERM domain C-lobe of FERM and PDZ domain containing proteins 1, 3, and 4 (FRMPD1, 3, 4)

cd17170
Location:193 → 286

FERM_F1_FRMPD4; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in FERM and PDZ domain-containing protein 4 (FRMPD4)
XM_011247832.4 → XP_011246134.1 FERM and PDZ domain-containing protein 4 isoform X3

See identical proteins and their annotated locations for XP_011246134.1

Conserved Domains (5) summary

smart00295
Location:197 → 416

B41; Band 4.1 homologues

cd00201
Location:28 → 57

WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...

cd00992
Location:68 → 144

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:412 → 516

FERM_C_FRMPD1_FRMPD3_FRMPD4; FERM domain C-lobe of FERM and PDZ domain containing proteins 1, 3, and 4 (FRMPD1, 3, 4)

cd17170
Location:193 → 286

FERM_F1_FRMPD4; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in FERM and PDZ domain-containing protein 4 (FRMPD4)
XM_006528889.4 → XP_006528952.1 FERM and PDZ domain-containing protein 4 isoform X4

Conserved Domains (4) summary

smart00295
Location:165 → 384

B41; Band 4.1 homologues

cd00992
Location:36 → 112

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:380 → 484

FERM_C_FRMPD1_FRMPD3_FRMPD4; FERM domain C-lobe of FERM and PDZ domain containing proteins 1, 3, and 4 (FRMPD1, 3, 4)

cd17170
Location:161 → 254

FERM_F1_FRMPD4; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in FERM and PDZ domain-containing protein 4 (FRMPD4)