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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

FRMPD1 Gene

protein-coding GIFtS: 49
GCID: GC09P037644

FERM and PDZ domain containing 1

Explore 1 disease affiliated with
FRMPD1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
FERM And PDZ Domain Containing 1¹ ²
FRMD2¹ ² ³
KIAA0967¹ ³
FERM Domain-Containing Protein 2² ³
FERM And PDZ Domain-Containing Protein 1²

External Ids:	HGNC: 29159¹	Entrez Gene: 22844²	Ensembl: ENSG00000070601⁷	UniProtKB: Q5SYB0³

Export aliases for FRMPD1 gene to outside databases

Previous GC identifers: GC09P037642 GC09P037643

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: FRPD1_HUMAN, Q5SYB0

Function: Stabilizes membrane-bound GPSM1, and thereby promotes its interaction with GNAI1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000009.11 NC_018920.1 NT_008413.18

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the FRMPD1 gene promoter:
GR Pbx1a Tal-1 LCR-F1 Tal-1beta E47 SRY Zic1 GR-alpha
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: FRMPD1 promoter sequence

Search SABiosciences Chromatin IP Primers for FRMPD1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FRMPD1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9p13.2 Ensembl cytogenetic band: 9p13.2 HGNC cytogenetic band: 9p13.1

FRMPD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FRMPD1 gene location

GeneLoc information about chromosome 9 GeneLoc Exon Structure

GeneLoc location for GC09P037644: view genomic region (about GC identifiers)

Start:	37,650,997 bp from pter	End:	37,746,901 bp from pter
Size:	95,905 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: FRPD1_HUMAN, Q5SYB0 (See protein sequence)

Recommended Name: FERM and PDZ domain-containing protein 1

Size: 1578 amino acids; 173437 Da

Subunit: Interacts with GPSM1

Subcellular location: Cytoplasm, cytosol. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Note=Found both

in the cytoplasm and associated with the cell membrane

2 PDB 3D structures from and Proteopedia for FRMPD1:

2EDV (3D)

4G2V (3D)

Secondary accessions: D3DRQ3 Q14C73 Q5HY96 Q9Y2H3

Explore the universe of human proteins at neXtProt for FRMPD1: NX_Q5SYB0

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q5SYB0

FRMPD1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_055722.2

ENSEMBL proteins:

ENSP00000366995 ENSP00000444411 ENSP00000439868 ENSP00000444804 ENSP00000437762

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	Uscn Proteins for FRMPD1

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IDA	--
GO:0005829	cytosol	IEA	--
GO:0005856	cytoskeleton	IEA	--
GO:0005886	plasma membrane	IEA	--

FRMPD1 for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

FRMPD1 for domains About GeneDecksing

5 InterPro domains/families:

IPR019748 FERM_central

IPR001478 PDZ

IPR019749 Band_41_domain

IPR018979 FERM_N

IPR000299 FERM_domain

Graphical View of Domain Structure for InterPro Entry Q5SYB0

ProtoNet protein and cluster: Q5SYB0

1 Blocks protein family: IPB000299 Band 4.1 domain

UniProtKB/Swiss-Prot: FRPD1_HUMAN, Q5SYB0

Similarity: Contains 1 FERM domain

Similarity: Contains 1 PDZ (DHR) domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: FRPD1_HUMAN, Q5SYB0

Function: Stabilizes membrane-bound GPSM1, and thereby promotes its interaction with GNAI1

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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FRMPD1

Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	--	--

FRMPD1 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for FRMPD1:

Synthetic lethal with Ras

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for FRMPD1

1 Interacting protein for FRMPD1 (Q5SYB0³) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
TLN1	Q9Y490³	I2D: score=1

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for FRMPD1
Search CenterWatch for drugs/clinical trials and news about FRMPD1 / FRPD1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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About This Section

REFSEQ mRNAs for FRMPD1 gene:

NM_014907.2

Unigene Cluster for FRMPD1:

FERM and PDZ domain containing 1

Hs.163990 [show with all ESTs]

Unigene Representative Sequence: BX648967

5 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000377765(uc004aag.1) ENST00000539465(uc004aah.1) ENST00000359927

ENST00000541302 ENST00000536622(uc011lqm.2 uc011lqn.2)

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		6 QIAGEN miScript miRNA Assays for microRNAs that regulate FRMPD1:
		hsa-miR-30c hsa-miR-30a hsa-miR-1266 hsa-miR-30b hsa-miR-30d hsa-miR-30e
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Additional cDNA sequence:

AB023184.1 AK302739.1 AK302854.1 BC114965.1 BX648967.1

4 DOTS entries:

DT.105175 DT.97770109 DT.97786805 DT.100674219

24/31 AceView cDNA sequences (see all 31):

AB023184 BM714301 BM722677 CD675426 BQ068691 BM677068 BQ071053 BM700114

BM679166 BM665597 BM721329 AA613216 BU737912 NM_014907 AA367739 BG740424

CD626298 BX648967 BX955619 BX105679 BQ069229 AA453913 BM711782 H88113

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for FRMPD1 About this scheme

ExUns:	1	^	2	^	3	^	4	^	5	^	6	^	7	^	8a	·	8b	^	9	^	10	^	11	^	12	^	13	^	14	^	15	^	16	^	17	^	18	^	19a	·	19b
SP1:											-		-																								-
SP2:
SP3:

ECgene alternative splicing isoforms for FRMPD1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

FRMPD1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGATCAGAAT

About this image

FRMPD1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Bone

Mandibular Process

Bone

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See FRMPD1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for FRMPD1

SOURCE GeneReport for Unigene cluster: Hs.163990

SABiosciences Custom PCR Arrays for FRMPD1

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for FRMPD1 gene from 6/16 species (see all 16) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Frmpd1^{1 , 5}	FERM and PDZ domain containing 1^{1, 5}	81.46(n)¹ 78.3(a)¹		4 (23.77 cM)⁵ 666060¹ NM_001081172.2¹ NP_001074641.1¹ 45184875⁵
chicken (Gallus gallus)	Aves	LOC100859250¹	FERM and PDZ domain-containing protein 1-like	61.87(n) 55.19(a)		100859250 XM_003643105.1 XP_003643153.1
lizard (Anolis carolinensis)	Reptilia	FRMPD1⁶	--	44(a)	1 ↔ 1	GL343201.1(3834351-3871582)
zebrafish (Danio rerio)	Actinopterygii	CU638740.4⁶ BX088718.5⁶ (see all 6)	--	65(a) 51(a) (see all 6)	many → 1 many → 1 (see all 6)	14(4382291-4389202) 14(4588851-4591210)
fruit fly (Drosophila melanogaster)	Insecta	CG42788⁶	--	14(a)	1 → many	3R(10921679-10957646)
worm (Caenorhabditis elegans)	Secernentea	frm-8⁶	FERM domain (protein4.1-ezrin-radixin-moesin) fami...	19(a)	1 → many	III(3200791-3219143)

ENSEMBL Gene Tree for FRMPD1 (if available)
TreeFam Gene Tree for FRMPD1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for FRMPD1 gene

FRMPD4² FRMPD3²

FRMPD1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 9 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs78649563^1,2		--	37649057(+)	`GAGGCT/AGACAC`	1	--	us2k¹		1		NA	120
rs141520606^1,2		--	37649112(+)	`ATGGGG/TAACAT`	1	--	us2k¹		0	--	--	--	--
rs62534443^1,2	C,	--	37649129(+)	`TCACCG/AGACAA`	1	--	us2k¹		5		NA WA EA	408
rs185172187^1,2		--	37649219(+)	`TTAATA/CTTTAT`	1	--	us2k¹		0	--	--	--	--
rs190862975^1,2		--	37649254(+)	`ACTTTA/TTTTTG`	1	--	us2k¹		0	--	--	--	--
rs10973454^1,2	C,F,	--	37649331(+)	`AAAAGC/TTTTCA`	1	--	us2k¹		4		CSA WA NA	242
rs115940058^1,2	F,	--	37649364(+)	`ATCTTC/TCACCC`	1	--	us2k¹		1		WA	118
rs112624688^1,2		--	37649404(+)	`CTTTGC/TATACT`	1	--	us2k¹		1		CSA	2
rs113784640^1,2		--	37649418(+)	`AAGACG/AGGTGA`	1	--	us2k¹		1		CSA	2
rs138945445^1,2		--	37649476(+)	`TGGGGC/TACTGA`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for FRMPD1 (37650997 - 37746901 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for FRMPD1
1 CNV: 59529

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

FRMPD1 for disorders About GeneDecksing

1 disease for FRMPD1: About MalaCards

breast cancer

Human Genome Epidemiology (HuGE) Navigator: FRMPD1 (1 document)

Export disorders for FRMPD1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for FRMPD1 gene integrated from 9 sources:
(articles sorted by number of sources associating them with FRMPD1)

Utopia: connect your pdf to the dynamic
world of online information

Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10231032)^{1, 2, 3} Nagase T.... Ohara O. (1999)
The PDZ and band 4.1 containing protein Frmpd1 regulates the subcellular location of activator of G-protein signaling 3 and its interaction with G-proteins. (PubMed id 18566450)^{1, 2} An N....Lanier S.M. (2008)
Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)¹ Rose J.E....Uhl G.R. (2010)
Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)¹ Barbe L....Andersson-Svahn H. (2008)
Rat Mcs5a is a compound quantitative trait locus with orthologous human loci that associate with breast cancer risk. (PubMed id 17404222)¹ Samuelson D.J....Gould M.N. (2007)
The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)² Bechtel S.... Schupp I. (2007)
The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)² Sjoeblom T.... Velculescu V.E. (2006)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)² Gerhard D.S....Malek J. (2004)
DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)² Humphray S.J.... Dunham I. (2004)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 22844	HGNC: 29159	AceView: FRMPD1	Ensembl:ENSG00000070601	euGenes: HUgn22844
ECgene: FRMPD1	H-InvDB: FRMPD1

(According to HUGE)
About This Section

HUGE: KIAA0967

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for FRMPD1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for FRMPD1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for FRMPD1 gene:
Search GeneIP for patents involving FRMPD1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section


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	OriGene Antibodies for FRMPD1		OriGene shRNA RFP for FRMPD1
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	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat FRMPD1
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	GenScript Custom Purified and Recombinant Proteins Services for FRMPD1		GenScript cDNA clones with any tag delivered in your preferred vector for FRMPD1
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FRMPD1

GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

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FRMPD1 Gene

FERM and PDZ domain containing 1

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FRMPD1 Gene

FERM and PDZ domain containing 1

Aliasesfor FRMPD1 gene

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Genomic Viewsfor FRMPD1 gene

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