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Entry version 121 (10 Apr 2019)
Sequence version 1 (05 Jul 2005)
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Protein

FERM and PDZ domain-containing protein 1

Gene

FRMPD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Stabilizes membrane-bound GPSM1, and thereby promotes its interaction with GNAI1.1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
FERM and PDZ domain-containing protein 1
Alternative name(s):
FERM domain-containing protein 2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:FRMPD1
Synonyms:FRMD2, KIAA0967
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 9

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000070601.9

Human Gene Nomenclature Database

More...
HGNCi
HGNC:29159 FRMPD1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
616919 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q5SYB0

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Cell membrane, Cytoplasm, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi924E → A: Abolishes interaction with GPSM2. 1 Publication1
Mutagenesisi929E → A: Strongly reduces GPSM2 binding. 1 Publication1
Mutagenesisi931K → A: Strongly reduces GPSM2 binding. 1 Publication1

Organism-specific databases

DisGeNET

More...
DisGeNETi
22844

Open Targets

More...
OpenTargetsi
ENSG00000070601

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134910182

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
FRMPD1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74754275

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003068051 – 1578FERM and PDZ domain-containing protein 1Add BLAST1578

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q5SYB0

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q5SYB0

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q5SYB0

PeptideAtlas

More...
PeptideAtlasi
Q5SYB0

PRoteomics IDEntifications database

More...
PRIDEi
Q5SYB0

ProteomicsDB human proteome resource

More...
ProteomicsDBi
64023

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q5SYB0

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q5SYB0

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000070601 Expressed in 102 organ(s), highest expression level in dorsal root ganglion

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q5SYB0 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q5SYB0 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA042934

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with GPSM1 (PubMed:18566450). Interacts with GPSM2 (via TPR repeat region) (PubMed:23318951).2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
MAGEA6P433603EBI-10245120,EBI-1045155

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
116516, 4 interactors

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...
ELMi
Q5SYB0

Protein interaction database and analysis system

More...
IntActi
Q5SYB0, 3 interactors

Molecular INTeraction database

More...
MINTi
Q5SYB0

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000444411

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

11578
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2EDVNMR-A54-136[»]
4G2VX-ray2.40B901-938[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q5SYB0

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q5SYB0

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q5SYB0

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini57 – 135PDZPROSITE-ProRule annotationAdd BLAST79
Domaini181 – 496FERMPROSITE-ProRule annotationAdd BLAST316

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni924 – 931Important for interaction with GPSM21 Publication8

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3552 Eukaryota
ENOG410YV8Z LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00950000183035

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000112646

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG101205

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q5SYB0

Identification of Orthologs from Complete Genome Data

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OMAi
CFRGPQP

Database of Orthologous Groups

More...
OrthoDBi
30821at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q5SYB0

TreeFam database of animal gene trees

More...
TreeFami
TF316497

Family and domain databases

Conserved Domains Database

More...
CDDi
cd14473 FERM_B-lobe, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.20.80.10, 1 hit
2.30.29.30, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR019749 Band_41_domain
IPR014352 FERM/acyl-CoA-bd_prot_sf
IPR035963 FERM_2
IPR019748 FERM_central
IPR000299 FERM_domain
IPR001478 PDZ
IPR036034 PDZ_sf
IPR011993 PH-like_dom_sf
IPR029071 Ubiquitin-like_domsf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00373 FERM_M, 1 hit
PF00595 PDZ, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00295 B41, 1 hit
SM00228 PDZ, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF47031 SSF47031, 1 hit
SSF50156 SSF50156, 1 hit
SSF54236 SSF54236, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50057 FERM_3, 1 hit
PS50106 PDZ, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q5SYB0-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MEELETSLFQ TRKAHRIEQM VARWLRRSRD SSARAKVAAA DGPARNPTQT
60 70 80 90 100
LIPVRHTVKI DKDTLLQDYG FHISESLPLT VVAVTAGGSA HGKLFPGDQI
110 120 130 140 150
LQMNNEPAED LSWERAVDIL REAEDSLSIT VVRCTSGVPK SSFLTEEKRA
160 170 180 190 200
RLKTNPVKVH FAEEVLISGH SQGNSLLCMP NVLKLYLENG QTKAFKFEAN
210 220 230 240 250
TTVKDIILTV KEKLSIRSIE YFALALEEQY SISRLHLLHE EELIQQVVER
260 270 280 290 300
EESHDYRCLF RVCFVPKDPL DLLKEDPVAF EYLYLQSCSD VLQERFAVEM
310 320 330 340 350
KCSSALRLAA LHIQERIYAC AQPQKISLKY IEKDWGIENF ISPTLLRNMK
360 370 380 390 400
GKDIKKAISF HMKRNQNLLE PRQKQLISAA QLRLNYLQIL GELKTYGGRI
410 420 430 440 450
FNATLMLQDR ESYIALLVGA KYGISQVINS KLNIMSTLAE FANISRVELT
460 470 480 490 500
EESEKVSVVK VYLQDVKVLT LLLESNSAKD LACLIAGYYR LLVDPVTSIF
510 520 530 540 550
LWPGNKQQAH RVSAEEGYES RACSDSEESS EVDCVLEPLS DRRLVKLAPC
560 570 580 590 600
RSLIKEEQPP GNSPTPEVAR RGPSTCGASS TTDSAESEAS DSANTESRGY
610 620 630 640 650
RTSGSSESMD ALEEDDLDTC SSSRSTFFHF GSPGLAESID SDSQEERSGI
660 670 680 690 700
ETSGFLCLLD LAQRANPQCQ KTEFSESAAL ETFGWAPELS TVRLDPRLYE
710 720 730 740 750
GSHADYYSLC SSVSPASYLS DSSESTASRQ GGAPPAWGQQ GWTEAQPSSM
760 770 780 790 800
LEPLALHPPL AFEDGSSDEE YYDAADKLTP PGPPSGPRDV STAEPSATSL
810 820 830 840 850
QNKASTSSPE NSLPCGPDGR QPSRRGGVKK YAKTLRKRRS FLQTDYTSQV
860 870 880 890 900
SFPLVPSASL ESVDDVCYYD REPYLALGAP SPTVSSLQDM QGEPGLLETK
910 920 930 940 950
ALGLLAPLRE TKSTNPASRV MEMEPETMET KSVIDSRVSS ISAIRFRIDP
960 970 980 990 1000
NNKENSGVVP AASSSASTPH CSNPGSSGPD TAQARPSQIL PLSQDLDGIA
1010 1020 1030 1040 1050
PKEPTIEHGD SSFSLSSGDP NPDRACLASN PGLNNVSQGD TLELQLEPHV
1060 1070 1080 1090 1100
QLEMGLESFC TNHIQETAPK YTEPLLSPRD EPRSDECGIN PGEKIASIPT
1110 1120 1130 1140 1150
KEEPQGQLSL ERDREVTNKN GTNVFQEESR KDSGDSPGDV SNNVSQTLDI
1160 1170 1180 1190 1200
SSPAGKIVTS LSLDAPVTGT EQIPPHPPRD PQGQSREPPG QGCQAQEQKL
1210 1220 1230 1240 1250
FVELDLDPDF FLGKQTVSPA VPPEGIKAEA PNHVTGQDIA PRDSPEWVCF
1260 1270 1280 1290 1300
NPEPSLPEPL PCPQEDPHLE TSNHCLLSEG KSDSSSICLS AEKSFLCFAP
1310 1320 1330 1340 1350
ESHPEVSASL RVATSLGFAG MNEMVAPRIG MDQCSCQFSY ATCFRGPQPE
1360 1370 1380 1390 1400
TEEEDRDLEA HPMAPLTSPP SAGSPVVLPW RPARAHSCTT APLSRKSHIW
1410 1420 1430 1440 1450
PEYCSRALRQ LKATPASTPE GFIQLMESLL ELQDILETSW GVGNKHPPEK
1460 1470 1480 1490 1500
CTWHFTESRS RLCMGSQKLL SSCRHVIRMD QSPEEMQGAV RDTFQHLVQL
1510 1520 1530 1540 1550
AGLCFQFTDC SRCSARHREA AGNLRDVVYT YHQFIEAAKS TCERGYHDLS
1560 1570
VKLLARQCTA LTAAVFCLTQ KFRASTAL
Length:1,578
Mass (Da):173,437
Last modified:July 5, 2005 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iDE1D285EEC3A743E
GO
Isoform 2 (identifier: Q5SYB0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-178: Missing.
     787-812: PRDVSTAEPSATSLQNKASTSSPENS → EPSLAGLQTRQAAPECLPGIKAWGQA
     813-1578: Missing.

Note: No experimental confirmation available.
Show »
Length:634
Mass (Da):70,342
Checksum:i033CB8E3B8A1B0FB
GO
Isoform 3 (identifier: Q5SYB0-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-5: MEELE → MAEVG
     6-136: Missing.
     787-812: PRDVSTAEPSATSLQNKASTSSPENS → EPSLAGLQTRQAAPECLPGIKAWGQA
     813-1578: Missing.

Note: No experimental confirmation available.
Show »
Length:681
Mass (Da):75,420
Checksum:iDE916F42850847DC
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F5H0G3F5H0G3_HUMAN
FERM and PDZ domain-containing prot...
FRMPD1
62Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti404T → A in CAI46019 (PubMed:17974005).Curated1
Sequence conflicti428I → T in CAI46019 (PubMed:17974005).Curated1
Sequence conflicti1278S → L in BAA76811 (PubMed:10231032).Curated1
Sequence conflicti1418T → A in CAI46019 (PubMed:17974005).Curated1
Sequence conflicti1446H → I in CAI46019 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_0353066T → P. Corresponds to variant dbSNP:rs3747539Ensembl.1
Natural variantiVAR_03530744A → T. Corresponds to variant dbSNP:rs2296556Ensembl.1
Natural variantiVAR_03530850T → N. Corresponds to variant dbSNP:rs7031966Ensembl.1
Natural variantiVAR_035309225A → V. Corresponds to variant dbSNP:rs1359590Ensembl.1
Natural variantiVAR_035445572G → D in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_035310846Y → D1 PublicationCorresponds to variant dbSNP:rs34233395Ensembl.1
Natural variantiVAR_0353111092G → E. Corresponds to variant dbSNP:rs35075933Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0560601 – 178Missing in isoform 2. 1 PublicationAdd BLAST178
Alternative sequenceiVSP_0560611 – 5MEELE → MAEVG in isoform 3. 1 Publication5
Alternative sequenceiVSP_0560626 – 136Missing in isoform 3. 1 PublicationAdd BLAST131
Alternative sequenceiVSP_056063787 – 812PRDVS…SPENS → EPSLAGLQTRQAAPECLPGI KAWGQA in isoform 2 and isoform 3. 1 PublicationAdd BLAST26
Alternative sequenceiVSP_056064813 – 1578Missing in isoform 2 and isoform 3. 1 PublicationAdd BLAST766

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AB023184 mRNA Translation: BAA76811.1
AK302739 mRNA Translation: BAH13793.1
AK302854 mRNA Translation: BAG64040.1
BX648967 mRNA Translation: CAI46019.1
AL513165 Genomic DNA No translation available.
AL591470 Genomic DNA No translation available.
CH471071 Genomic DNA Translation: EAW58270.1
CH471071 Genomic DNA Translation: EAW58271.1
BC114965 mRNA Translation: AAI14966.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS6612.1 [Q5SYB0-1]

NCBI Reference Sequences

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RefSeqi
NP_055722.2, NM_014907.2 [Q5SYB0-1]
XP_011516105.1, XM_011517803.2 [Q5SYB0-1]
XP_011516106.1, XM_011517804.2 [Q5SYB0-1]
XP_016869969.1, XM_017014480.1 [Q5SYB0-1]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.163990

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000377765; ENSP00000366995; ENSG00000070601 [Q5SYB0-1]
ENST00000539465; ENSP00000444411; ENSG00000070601 [Q5SYB0-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
22844

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:22844

UCSC genome browser

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UCSCi
uc004aag.2 human [Q5SYB0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB023184 mRNA Translation: BAA76811.1
AK302739 mRNA Translation: BAH13793.1
AK302854 mRNA Translation: BAG64040.1
BX648967 mRNA Translation: CAI46019.1
AL513165 Genomic DNA No translation available.
AL591470 Genomic DNA No translation available.
CH471071 Genomic DNA Translation: EAW58270.1
CH471071 Genomic DNA Translation: EAW58271.1
BC114965 mRNA Translation: AAI14966.1
CCDSiCCDS6612.1 [Q5SYB0-1]
RefSeqiNP_055722.2, NM_014907.2 [Q5SYB0-1]
XP_011516105.1, XM_011517803.2 [Q5SYB0-1]
XP_011516106.1, XM_011517804.2 [Q5SYB0-1]
XP_016869969.1, XM_017014480.1 [Q5SYB0-1]
UniGeneiHs.163990

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2EDVNMR-A54-136[»]
4G2VX-ray2.40B901-938[»]
ProteinModelPortaliQ5SYB0
SMRiQ5SYB0
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116516, 4 interactors
ELMiQ5SYB0
IntActiQ5SYB0, 3 interactors
MINTiQ5SYB0
STRINGi9606.ENSP00000444411

PTM databases

iPTMnetiQ5SYB0
PhosphoSitePlusiQ5SYB0

Polymorphism and mutation databases

BioMutaiFRMPD1
DMDMi74754275

Proteomic databases

EPDiQ5SYB0
jPOSTiQ5SYB0
PaxDbiQ5SYB0
PeptideAtlasiQ5SYB0
PRIDEiQ5SYB0
ProteomicsDBi64023

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000377765; ENSP00000366995; ENSG00000070601 [Q5SYB0-1]
ENST00000539465; ENSP00000444411; ENSG00000070601 [Q5SYB0-1]
GeneIDi22844
KEGGihsa:22844
UCSCiuc004aag.2 human [Q5SYB0-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
22844
DisGeNETi22844
EuPathDBiHostDB:ENSG00000070601.9

GeneCards: human genes, protein and diseases

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GeneCardsi
FRMPD1

H-Invitational Database, human transcriptome db

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H-InvDBi
HIX0008040
HGNCiHGNC:29159 FRMPD1
HPAiHPA042934
MIMi616919 gene
neXtProtiNX_Q5SYB0
OpenTargetsiENSG00000070601
PharmGKBiPA134910182

Human Unidentified Gene-Encoded large proteins database

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HUGEi
Search...

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3552 Eukaryota
ENOG410YV8Z LUCA
GeneTreeiENSGT00950000183035
HOGENOMiHOG000112646
HOVERGENiHBG101205
InParanoidiQ5SYB0
OMAiCFRGPQP
OrthoDBi30821at2759
PhylomeDBiQ5SYB0
TreeFamiTF316497

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
FRMPD1 human
EvolutionaryTraceiQ5SYB0

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
22844

Protein Ontology

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PROi
PR:Q5SYB0

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000070601 Expressed in 102 organ(s), highest expression level in dorsal root ganglion
ExpressionAtlasiQ5SYB0 baseline and differential
GenevisibleiQ5SYB0 HS

Family and domain databases

CDDicd14473 FERM_B-lobe, 1 hit
Gene3Di1.20.80.10, 1 hit
2.30.29.30, 1 hit
InterProiView protein in InterPro
IPR019749 Band_41_domain
IPR014352 FERM/acyl-CoA-bd_prot_sf
IPR035963 FERM_2
IPR019748 FERM_central
IPR000299 FERM_domain
IPR001478 PDZ
IPR036034 PDZ_sf
IPR011993 PH-like_dom_sf
IPR029071 Ubiquitin-like_domsf
PfamiView protein in Pfam
PF00373 FERM_M, 1 hit
PF00595 PDZ, 1 hit
SMARTiView protein in SMART
SM00295 B41, 1 hit
SM00228 PDZ, 1 hit
SUPFAMiSSF47031 SSF47031, 1 hit
SSF50156 SSF50156, 1 hit
SSF54236 SSF54236, 1 hit
PROSITEiView protein in PROSITE
PS50057 FERM_3, 1 hit
PS50106 PDZ, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiFRPD1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q5SYB0
Secondary accession number(s): B4DZC8
, B7Z807, D3DRQ3, Q14C73, Q5HY96, Q9Y2H3
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 2, 2007
Last sequence update: July 5, 2005
Last modified: April 10, 2019
This is version 121 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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