Plekha1 pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Plekha1provided by MGI
Official Full Name: pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1provided by MGI
Primary source: MGI:MGI:2442213
See related: Ensembl:ENSMUSG00000040268 AllianceGenome:MGI:2442213
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: TAPP1; C920009D07Rik
Summary: Predicted to enable PDZ domain binding activity; phosphatidylinositol-3,4-bisphosphate binding activity; and phospholipid binding activity. Acts upstream of or within several processes, including androgen metabolic process; face morphogenesis; and gonad development. Predicted to be located in cytosol; nucleoplasm; and ruffle membrane. Predicted to be active in cytoplasm and plasma membrane. Is expressed in several structures, including embryo ectoderm; ganglia; metanephros; nasal epithelium; and ureter. Orthologous to human PLEKHA1 (pleckstrin homology domain containing A1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in CNS E18 (RPKM 32.7), whole brain E14.5 (RPKM 25.8) and 26 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 F3; 7 73.19 cM

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (130462281..130515224)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (130860551..130913494)

Chromosome 7 - NC_000073.7 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?

this study shows that TAPP1/2 double knock-out mice develop chronic germinal centers with age and show abnormal expression of B-cell activation anddevelop lupus-like characteristics including anti-DNA antibodies and deposition of immune complexes in kidneys
Title: B-cell-intrinsic function of TAPP adaptors in controlling germinal center responses and autoantibody production in mice.
Results identify TAPP1 as an important negative regulator of oligodendrocyte precursor cells differentiation through the Mek/Erk signaling pathway.
Title: TAPP1 inhibits the differentiation of oligodendrocyte precursor cells via suppressing the Mek/Erk pathway.
interacts with phosphatidylinositol (3,4)-bisphosphate thus regulating B-cell activation and autoantibody production
Title: Interaction of TAPP adapter proteins with phosphatidylinositol (3,4)-bisphosphate regulates B-cell activation and autoantibody production.

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Variation

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Alleles

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

Endonuclease-mediated (1)
Gene trapped (1) 1 citation
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AA960558 (e-PCR)
- UniSTS:159702

NoName (e-PCR)
- UniSTS:224735

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables PDZ domain binding	IEA Inferred from Electronic Annotation more info
enables PDZ domain binding	ISO Inferred from Sequence Orthology more info
enables lipid binding	IEA Inferred from Electronic Annotation more info
enables phosphatidylinositol-3,4-bisphosphate binding	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol-3,4-bisphosphate binding	IEA Inferred from Electronic Annotation more info
enables phosphatidylinositol-3,4-bisphosphate binding	ISO Inferred from Sequence Orthology more info
enables phospholipid binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in B cell receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in B cell receptor signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within Leydig cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within androgen metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to hydrogen peroxide	IEA Inferred from Electronic Annotation more info
involved_in cellular response to hydrogen peroxide	ISO Inferred from Sequence Orthology more info
involved_in establishment of protein localization	IEA Inferred from Electronic Annotation more info
involved_in establishment of protein localization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within estrogen metabolic process	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within face morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within female gonad development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within luteinization	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within multicellular organism growth	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	ISO Inferred from Sequence Orthology more info
involved_in phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA Inferred from Electronic Annotation more info
involved_in phosphatidylinositol 3-kinase/protein kinase B signal transduction	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within platelet-derived growth factor receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within post-embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within roof of mouth development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ruffle organization	IEA Inferred from Electronic Annotation more info
involved_in ruffle organization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within skeletal system morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within spermatogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in ruffle membrane	IEA Inferred from Electronic Annotation more info
located_in ruffle membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: pleckstrin homology domain-containing family A member 1

Names: PH domain-containing family A member 1; TAPP-1; tandem PH 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)

NM_001346515.1 → NP_001333444.1 pleckstrin homology domain-containing family A member 1 isoform 2

Status: VALIDATED

Source sequence(s)

AC115697

Consensus CDS

CCDS85434.1

UniProtKB/Swiss-Prot

Q8BK96, Q8BUL6, Q8BXU1, Q8VE13

Conserved Domains (2) summary

cd13270
Location:1 → 117

PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat

cd13271
Location:185 → 298

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
NM_001357696.1 → NP_001344625.1 pleckstrin homology domain-containing family A member 1 isoform 3

Status: VALIDATED

Source sequence(s)

AC115697

Conserved Domains (2) summary

cd13270
Location:1 → 117

PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat

cd13271
Location:185 → 296

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
NM_001382373.1 → NP_001369302.1 pleckstrin homology domain-containing family A member 1 isoform 4

Status: VALIDATED

Source sequence(s)

AC115697

Conserved Domains (2) summary

cd13270
Location:1 → 117

PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat

cd13271
Location:185 → 298

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
NM_001382374.1 → NP_001369303.1 pleckstrin homology domain-containing family A member 1 isoform 2

Status: VALIDATED

Source sequence(s)

AC115697

UniProtKB/Swiss-Prot

Q8BK96, Q8BUL6, Q8BXU1, Q8VE13

Related

ENSMUSP00000074675.5, ENSMUST00000075181.11

Conserved Domains (2) summary

cd13270
Location:1 → 117

PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat

cd13271
Location:185 → 298

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
NM_001382375.1 → NP_001369304.1 pleckstrin homology domain-containing family A member 1 isoform 5

Status: VALIDATED

Source sequence(s)

AC115697

UniProtKB/TrEMBL

D3YU01, D6RCU3

Related

ENSMUSP00000112777.2, ENSMUST00000120441.8

Conserved Domains (2) summary

cd13270
Location:1 → 117

PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat

cd13271
Location:185 → 298

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
NM_001382376.1 → NP_001369305.1 pleckstrin homology domain-containing family A member 1 isoform 6

Status: VALIDATED

Source sequence(s)

AC115697

Conserved Domains (2) summary

cd13270
Location:1 → 117

PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat

cd13271
Location:185 → 298

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
NM_001382377.1 → NP_001369306.1 pleckstrin homology domain-containing family A member 1 isoform 7

Status: VALIDATED

Source sequence(s)

AC115697

UniProtKB/TrEMBL

D6RCU3

Conserved Domains (2) summary

cd13271
Location:137 → 250

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat

cl17171
Location:1 → 75

PH-like; Pleckstrin homology-like domain
NM_001382378.1 → NP_001369307.1 pleckstrin homology domain-containing family A member 1 isoform 5

Status: VALIDATED

Source sequence(s)

AC115697

UniProtKB/TrEMBL

D3YU01, D6RCU3

Conserved Domains (2) summary

cd13270
Location:1 → 117

PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat

cd13271
Location:185 → 298

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
NM_001382379.1 → NP_001369308.1 pleckstrin homology domain-containing family A member 1 isoform 7

Status: VALIDATED

Source sequence(s)

AC115697

UniProtKB/TrEMBL

D6RCU3

Conserved Domains (2) summary

cd13271
Location:137 → 250

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat

cl17171
Location:1 → 75

PH-like; Pleckstrin homology-like domain
NM_133942.3 → NP_598703.1 pleckstrin homology domain-containing family A member 1 isoform 1

See identical proteins and their annotated locations for NP_598703.1

Status: VALIDATED

Source sequence(s)

AC115697

Consensus CDS

CCDS21907.1

UniProtKB/Swiss-Prot

Q8BUL6

Related

ENSMUSP00000035375.6, ENSMUST00000048180.12

Conserved Domains (3) summary

cd13271
Location:137 → 250

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat

pfam00169
Location:144 → 240

PH; PH domain

cl17171
Location:1 → 75

PH-like; Pleckstrin homology-like domain

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_000073.7 Reference GRCm39 C57BL/6J

Range

130462281..130515224

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017321904.2 → XP_017177393.1 pleckstrin homology domain-containing family A member 1 isoform X1

Conserved Domains (2) summary

cd13270
Location:1 → 117

PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat

cd13271
Location:185 → 296

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
XM_006507152.2 → XP_006507215.1 pleckstrin homology domain-containing family A member 1 isoform X7

UniProtKB/TrEMBL

D6RCU3

Conserved Domains (2) summary

cd13270
Location:1 → 117

PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat

cd13271
Location:185 → 296

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
XM_006507140.1 → XP_006507203.1 pleckstrin homology domain-containing family A member 1 isoform X1

See identical proteins and their annotated locations for XP_006507203.1

Conserved Domains (2) summary

cd13270
Location:1 → 117

PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat

cd13271
Location:185 → 296

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
XM_006507145.1 → XP_006507208.1 pleckstrin homology domain-containing family A member 1 isoform X2

See identical proteins and their annotated locations for XP_006507208.1

Conserved Domains (2) summary

cd13270
Location:1 → 117

PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat

cd13271
Location:185 → 298

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
XM_006507150.1 → XP_006507213.1 pleckstrin homology domain-containing family A member 1 isoform X6

See identical proteins and their annotated locations for XP_006507213.1

Conserved Domains (2) summary

cd13271
Location:137 → 248

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat

cl17171
Location:1 → 75

PH-like; Pleckstrin homology-like domain
XM_036152519.1 → XP_036008412.1 pleckstrin homology domain-containing family A member 1 isoform X8

Conserved Domains (2) summary

cd13271
Location:137 → 250

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat

cl17171
Location:1 → 75

PH-like; Pleckstrin homology-like domain
XM_030241937.1 → XP_030097797.1 pleckstrin homology domain-containing family A member 1 isoform X9

Conserved Domains (2) summary

cd13271
Location:137 → 250

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat

cl17171
Location:1 → 75

PH-like; Pleckstrin homology-like domain
XM_006507151.5 → XP_006507214.1 pleckstrin homology domain-containing family A member 1 isoform X6

See identical proteins and their annotated locations for XP_006507214.1

Conserved Domains (2) summary

cd13271
Location:137 → 248

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat

cl17171
Location:1 → 75

PH-like; Pleckstrin homology-like domain
XM_006507141.5 → XP_006507204.1 pleckstrin homology domain-containing family A member 1 isoform X1

See identical proteins and their annotated locations for XP_006507204.1

Conserved Domains (2) summary

cd13270
Location:1 → 117

PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat

cd13271
Location:185 → 296

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
XM_036152518.1 → XP_036008411.1 pleckstrin homology domain-containing family A member 1 isoform X4

Conserved Domains (2) summary

cd13270
Location:1 → 117

PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat

cd13271
Location:185 → 298

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
XM_036152520.1 → XP_036008413.1 pleckstrin homology domain-containing family A member 1 isoform X9

Conserved Domains (2) summary

cd13271
Location:137 → 250

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat

cl17171
Location:1 → 75

PH-like; Pleckstrin homology-like domain
XM_036152517.1 → XP_036008410.1 pleckstrin homology domain-containing family A member 1 isoform X3

Conserved Domains (2) summary

cd13270
Location:1 → 117

PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat

cd13271
Location:185 → 296

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
XM_030241935.2 → XP_030097795.1 pleckstrin homology domain-containing family A member 1 isoform X2

Conserved Domains (2) summary

cd13270
Location:1 → 117

PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat

cd13271
Location:185 → 298

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
XM_030241936.2 → XP_030097796.1 pleckstrin homology domain-containing family A member 1 isoform X5

UniProtKB/Swiss-Prot

Q8BK96, Q8BUL6, Q8BXU1, Q8VE13

Conserved Domains (2) summary

cd13270
Location:1 → 117

PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat

cd13271
Location:185 → 298

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
XM_006507143.5 → XP_006507206.1 pleckstrin homology domain-containing family A member 1 isoform X1

See identical proteins and their annotated locations for XP_006507206.1

Conserved Domains (2) summary

cd13270
Location:1 → 117

PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat

cd13271
Location:185 → 296

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
XM_006507142.4 → XP_006507205.1 pleckstrin homology domain-containing family A member 1 isoform X1

See identical proteins and their annotated locations for XP_006507205.1

Conserved Domains (2) summary

cd13270
Location:1 → 117

PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat

cd13271
Location:185 → 296

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
XM_036152521.1 → XP_036008414.1 pleckstrin homology domain-containing family A member 1 isoform X10

Conserved Domains (2) summary

cd13271
Location:165 → 278

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat

cl17171
Location:48 → 97

PH-like; Pleckstrin homology-like domain