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Protein

Pikachurin

Gene

EGFLAM

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

Involved in both the retinal photoreceptor ribbon synapse formation and physiological functions of visual perception. Necessary for proper bipolar dendritic tip apposition to the photoreceptor ribbon synapse. Promotes matrix assembly and cell adhesiveness (By similarity).By similarity

<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 - Molecular functioni

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:
Pikachurin
Alternative name(s):
Agrin-like protein
EGF-like, fibronectin type-III and laminin G-like domain-containing protein
<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:EGFLAM
Synonyms:AGRINL, AGRNL, PIKA
<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 5

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000164318.17

Human Gene Nomenclature Database

More...
HGNCi
HGNC:26810 EGFLAM

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
617683 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q63HQ2

<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; 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 junction, Extracellular matrix, Secreted, Synapse

<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

Organism-specific databases

DisGeNET

More...
DisGeNETi
133584

Open Targets

More...
OpenTargetsi
ENSG00000164318

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA147358056

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
EGFLAM

Domain mapping of disease mutations (DMDM)

More...
DMDMi
158705944

<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 denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 24Sequence analysisAdd BLAST24
<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_000030680325 – 1017PikachurinAdd BLAST993

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi47N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi347 ↔ 358By similarity
Disulfide bondi352 ↔ 369By similarity
Disulfide bondi371 ↔ 380By similarity
Disulfide bondi534 ↔ 564By similarity
Disulfide bondi569 ↔ 580By similarity
Disulfide bondi574 ↔ 590By similarity
Disulfide bondi592 ↔ 601By similarity
Disulfide bondi788 ↔ 799By similarity
Disulfide bondi793 ↔ 808By similarity
Disulfide bondi810 ↔ 819By similarity
Disulfide bondi987 ↔ 1014By similarity

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

O-glycosylated; contains chondroitin sulfate and heparan sulfate.By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

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

More...
PaxDbi
Q63HQ2

PeptideAtlas

More...
PeptideAtlasi
Q63HQ2

PRoteomics IDEntifications database

More...
PRIDEi
Q63HQ2

ProteomicsDB human proteome resource

More...
ProteomicsDBi
65890
65891 [Q63HQ2-2]
65892 [Q63HQ2-3]
65893 [Q63HQ2-4]
65894 [Q63HQ2-5]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q63HQ2

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

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PhosphoSitePlusi
Q63HQ2

<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
ENSG00000164318 Expressed in 123 organ(s), highest expression level in muscle of leg

CleanEx database of gene expression profiles

More...
CleanExi
HS_EGFLAM

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q63HQ2 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q63HQ2 HS

<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 DAG1 alpha-dystroglycan.By similarity

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
126364, 6 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000346964

<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

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q63HQ2

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

More...
SMRi
Q63HQ2

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<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>Domaini37 – 136Fibronectin type-III 1PROSITE-ProRule annotationAdd BLAST100
Domaini144 – 239Fibronectin type-III 2PROSITE-ProRule annotationAdd BLAST96
Domaini343 – 381EGF-like 1PROSITE-ProRule annotationAdd BLAST39
Domaini386 – 564Laminin G-like 1PROSITE-ProRule annotationAdd BLAST179
Domaini565 – 602EGF-like 2PROSITE-ProRule annotationAdd BLAST38
Domaini609 – 788Laminin G-like 2PROSITE-ProRule annotationAdd BLAST180
Domaini784 – 820EGF-like 3PROSITE-ProRule annotationAdd BLAST37
Domaini835 – 1014Laminin G-like 3PROSITE-ProRule annotationAdd BLAST180

Keywords - Domaini

EGF-like domain, Repeat, Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0613 Eukaryota
KOG3509 Eukaryota
ENOG410XRPX LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000158504

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG107839

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q63HQ2

Identification of Orthologs from Complete Genome Data

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OMAi
LGHWHEL

Database of Orthologous Groups

More...
OrthoDBi
EOG091G048M

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q63HQ2

TreeFam database of animal gene trees

More...
TreeFami
TF326548

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00063 FN3, 2 hits

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.60.40.10, 2 hits

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR013320 ConA-like_dom_sf
IPR001881 EGF-like_Ca-bd_dom
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom
IPR003961 FN3_dom
IPR036116 FN3_sf
IPR013783 Ig-like_fold
IPR001791 Laminin_G

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00008 EGF, 2 hits
PF00041 fn3, 2 hits
PF00054 Laminin_G_1, 2 hits
PF02210 Laminin_G_2, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00181 EGF, 3 hits
SM00179 EGF_CA, 2 hits
SM00060 FN3, 2 hits
SM00282 LamG, 3 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF49265 SSF49265, 1 hit
SSF49899 SSF49899, 3 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00022 EGF_1, 3 hits
PS01186 EGF_2, 2 hits
PS50026 EGF_3, 3 hits
PS50853 FN3, 2 hits
PS50025 LAM_G_DOMAIN, 3 hits

<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 (5+)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.

<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 in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 5 <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 5 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q63HQ2-1) [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
MDLIRGVLLR LLLLASSLGP GAVSLRAAIR KPGKVGPPLD IKLGALNCTA
60 70 80 90 100
FSIQWKMPRH PGSPILGYTV FYSEVGADKS LQEQLHSVPL SRDIPTTEEV
110 120 130 140 150
IGDLKPGTEY RVSIAAYSQA GKGRLSSPRH VTTLSQDSCL PPAAPQQPHV
160 170 180 190 200
IVVSDSEVAL SWKPGASEGS APIQYYSVEF IRPDFDKKWT SIHERIQMDS
210 220 230 240 250
MVIKGLDPDT NYQFAVRAMN SHGPSPRSWP SDIIRTLCPE EAGSGRYGPR
260 270 280 290 300
YITDMGAGED DEGFEDDLDL DISFEEVKPL PATKGGNKKF LVESKKMSIS
310 320 330 340 350
NPKTISRLIP PTSASLPVTT VAPQPIPIQR KGKNGVAIMS RLFDMPCDET
360 370 380 390 400
LCSADSFCVN DYTWGGSRCQ CTLGKGGESC SEDIVIQYPQ FFGHSYVTFE
410 420 430 440 450
PLKNSYQAFQ ITLEFRAEAE DGLLLYCGEN EHGRGDFMSL AIIRRSLQFR
460 470 480 490 500
FNCGTGVAII VSETKIKLGG WHTVMLYRDG LNGLLQLNNG TPVTGQSQGQ
510 520 530 540 550
YSKITFRTPL YLGGAPSAYW LVRATGTNRG FQGCVQSLAV NGRRIDMRPW
560 570 580 590 600
PLGKALSGAD VGECSSGICD EASCIHGGTC TAIKADSYIC LCPLGFKGRH
610 620 630 640 650
CEDAFTLTIP QFRESLRSYA ATPWPLEPQH YLSFMEFEIT FRPDSGDGVL
660 670 680 690 700
LYSYDTGSKD FLSINLAGGH VEFRFDCGSG TGVLRSEDPL TLGNWHELRV
710 720 730 740 750
SRTAKNGILQ VDKQKIVEGM AEGGFTQIKC NTDIFIGGVP NYDDVKKNSG
760 770 780 790 800
VLKPFSGSIQ KIILNDRTIH VKHDFTSGVN VENAAHPCVR APCAHGGSCR
810 820 830 840 850
PRKEGYDCDC PLGFEGLHCQ KECGNYCLNT IIEAIEIPQF IGRSYLTYDN
860 870 880 890 900
PDILKRVSGS RSNVFMRFKT TAKDGLLLWR GDSPMRPNSD FISLGLRDGA
910 920 930 940 950
LVFSYNLGSG VASIMVNGSF NDGRWHRVKA VRDGQSGKIT VDDYGARTGK
960 970 980 990 1000
SPGMMRQLNI NGALYVGGMK EIALHTNRQY MRGLVGCISH FTLSTDYHIS
1010
LVEDAVDGKN INTCGAK
Length:1,017
Mass (Da):111,271
Last modified:October 2, 2007 - v2
<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:iAF251212507A57EB
GO
Isoform 2 (identifier: Q63HQ2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     822-830: ECGNYCLNT → A

Show »
Length:1,009
Mass (Da):110,344
Checksum:i0F2EC9C7EE261ACD
GO
Isoform 3 (identifier: Q63HQ2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-634: Missing.
     822-830: ECGNYCLNT → A

Show »
Length:375
Mass (Da):41,072
Checksum:i4003CD994EC02E45
GO
Isoform 4 (identifier: Q63HQ2-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-234: Missing.
     235-238: RTLC → MHPG
     822-830: ECGNYCLNT → A

Show »
Length:775
Mass (Da):84,800
Checksum:i61A81294F0204ED2
GO
Isoform 5 (identifier: Q63HQ2-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-865: Missing.

Show »
Length:152
Mass (Da):16,588
Checksum:i628A79CBD877DB87
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 are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6RJD2D6RJD2_HUMAN
Pikachurin
EGFLAM
112Annotation 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>
D6RG24D6RG24_HUMAN
Pikachurin
EGFLAM
47Annotation 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>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAC04800 differs from that shown. Unlikely isoform. Aberrant splice sites.Curated

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 conflicti546D → G in CAH56137 (PubMed:17974005).Curated1
Sequence conflicti602E → G in CAH56137 (PubMed:17974005).Curated1
Sequence conflicti641F → L in BAF84291 (PubMed:14702039).Curated1
Sequence conflicti775F → L in CAH56137 (PubMed:17974005).Curated1
Sequence conflicti1005A → S in AAH33177 (PubMed:15489334).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_05571826R → P. Corresponds to variant dbSNP:rs12522205Ensembl.1
Natural variantiVAR_035302111R → H. Corresponds to variant dbSNP:rs2561111Ensembl.1
Natural variantiVAR_035303229W → R. Corresponds to variant dbSNP:rs1465567Ensembl.1
Natural variantiVAR_035304473T → M1 PublicationCorresponds to variant dbSNP:rs16903965Ensembl.1
Natural variantiVAR_035305576H → N. Corresponds to variant dbSNP:rs6897179Ensembl.1
Natural variantiVAR_055719745V → M. Corresponds to variant dbSNP:rs2561818Ensembl.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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0284751 – 865Missing in isoform 5. 2 PublicationsAdd BLAST865
Alternative sequenceiVSP_0284761 – 634Missing in isoform 3. 1 PublicationAdd BLAST634
Alternative sequenceiVSP_0284771 – 234Missing in isoform 4. 1 PublicationAdd BLAST234
Alternative sequenceiVSP_028478235 – 238RTLC → MHPG in isoform 4. 1 Publication4
Alternative sequenceiVSP_028481822 – 830ECGNYCLNT → A in isoform 2, isoform 3 and isoform 4. 2 Publications9

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AK092479 mRNA Translation: BAC03900.1
AK092994 mRNA Translation: BAC04013.1
AK096474 mRNA Translation: BAC04800.1 Sequence problems.
AK097549 mRNA Translation: BAC05096.1
AK291602 mRNA Translation: BAF84291.1
BX647551 mRNA Translation: CAH56137.1
AC010338 Genomic DNA No translation available.
AC010457 Genomic DNA No translation available.
AC091839 Genomic DNA No translation available.
CH471119 Genomic DNA Translation: EAW55968.1
BC031251 mRNA Translation: AAH31251.1
BC033177 mRNA Translation: AAH33177.1
BC033188 mRNA Translation: AAH33188.1
BC063822 mRNA Translation: AAH63822.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS3924.1 [Q63HQ2-2]
CCDS3925.1 [Q63HQ2-4]
CCDS47199.1 [Q63HQ2-5]
CCDS56363.1 [Q63HQ2-1]

NCBI Reference Sequences

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RefSeqi
NP_001192230.1, NM_001205301.1 [Q63HQ2-1]
NP_689616.2, NM_152403.3 [Q63HQ2-2]
NP_877950.1, NM_182798.2 [Q63HQ2-4]
NP_877953.1, NM_182801.2 [Q63HQ2-5]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.20103

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000322350; ENSP00000313084; ENSG00000164318 [Q63HQ2-2]
ENST00000336740; ENSP00000337607; ENSG00000164318 [Q63HQ2-4]
ENST00000354891; ENSP00000346964; ENSG00000164318 [Q63HQ2-1]
ENST00000397202; ENSP00000380385; ENSG00000164318 [Q63HQ2-3]
ENST00000397210; ENSP00000380393; ENSG00000164318 [Q63HQ2-5]
ENST00000506135; ENSP00000425579; ENSG00000164318 [Q63HQ2-5]
ENST00000514476; ENSP00000423228; ENSG00000164318 [Q63HQ2-5]

Database of genes from NCBI RefSeq genomes

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GeneIDi
133584

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:133584

UCSC genome browser

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UCSCi
uc003jlb.3 human [Q63HQ2-1]

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
AK092479 mRNA Translation: BAC03900.1
AK092994 mRNA Translation: BAC04013.1
AK096474 mRNA Translation: BAC04800.1 Sequence problems.
AK097549 mRNA Translation: BAC05096.1
AK291602 mRNA Translation: BAF84291.1
BX647551 mRNA Translation: CAH56137.1
AC010338 Genomic DNA No translation available.
AC010457 Genomic DNA No translation available.
AC091839 Genomic DNA No translation available.
CH471119 Genomic DNA Translation: EAW55968.1
BC031251 mRNA Translation: AAH31251.1
BC033177 mRNA Translation: AAH33177.1
BC033188 mRNA Translation: AAH33188.1
BC063822 mRNA Translation: AAH63822.1
CCDSiCCDS3924.1 [Q63HQ2-2]
CCDS3925.1 [Q63HQ2-4]
CCDS47199.1 [Q63HQ2-5]
CCDS56363.1 [Q63HQ2-1]
RefSeqiNP_001192230.1, NM_001205301.1 [Q63HQ2-1]
NP_689616.2, NM_152403.3 [Q63HQ2-2]
NP_877950.1, NM_182798.2 [Q63HQ2-4]
NP_877953.1, NM_182801.2 [Q63HQ2-5]
UniGeneiHs.20103

3D structure databases

ProteinModelPortaliQ63HQ2
SMRiQ63HQ2
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi126364, 6 interactors
STRINGi9606.ENSP00000346964

PTM databases

iPTMnetiQ63HQ2
PhosphoSitePlusiQ63HQ2

Polymorphism and mutation databases

BioMutaiEGFLAM
DMDMi158705944

Proteomic databases

PaxDbiQ63HQ2
PeptideAtlasiQ63HQ2
PRIDEiQ63HQ2
ProteomicsDBi65890
65891 [Q63HQ2-2]
65892 [Q63HQ2-3]
65893 [Q63HQ2-4]
65894 [Q63HQ2-5]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000322350; ENSP00000313084; ENSG00000164318 [Q63HQ2-2]
ENST00000336740; ENSP00000337607; ENSG00000164318 [Q63HQ2-4]
ENST00000354891; ENSP00000346964; ENSG00000164318 [Q63HQ2-1]
ENST00000397202; ENSP00000380385; ENSG00000164318 [Q63HQ2-3]
ENST00000397210; ENSP00000380393; ENSG00000164318 [Q63HQ2-5]
ENST00000506135; ENSP00000425579; ENSG00000164318 [Q63HQ2-5]
ENST00000514476; ENSP00000423228; ENSG00000164318 [Q63HQ2-5]
GeneIDi133584
KEGGihsa:133584
UCSCiuc003jlb.3 human [Q63HQ2-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
133584
DisGeNETi133584
EuPathDBiHostDB:ENSG00000164318.17

GeneCards: human genes, protein and diseases

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GeneCardsi
EGFLAM
HGNCiHGNC:26810 EGFLAM
MIMi617683 gene
neXtProtiNX_Q63HQ2
OpenTargetsiENSG00000164318
PharmGKBiPA147358056

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0613 Eukaryota
KOG3509 Eukaryota
ENOG410XRPX LUCA
GeneTreeiENSGT00940000158504
HOVERGENiHBG107839
InParanoidiQ63HQ2
OMAiLGHWHEL
OrthoDBiEOG091G048M
PhylomeDBiQ63HQ2
TreeFamiTF326548

Miscellaneous databases

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

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ChiTaRSi
EGFLAM human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
Pikachurin

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

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GenomeRNAii
133584

Protein Ontology

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PROi
PR:Q63HQ2

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000164318 Expressed in 123 organ(s), highest expression level in muscle of leg
CleanExiHS_EGFLAM
ExpressionAtlasiQ63HQ2 baseline and differential
GenevisibleiQ63HQ2 HS

Family and domain databases

CDDicd00063 FN3, 2 hits
Gene3Di2.60.40.10, 2 hits
InterProiView protein in InterPro
IPR013320 ConA-like_dom_sf
IPR001881 EGF-like_Ca-bd_dom
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom
IPR003961 FN3_dom
IPR036116 FN3_sf
IPR013783 Ig-like_fold
IPR001791 Laminin_G
PfamiView protein in Pfam
PF00008 EGF, 2 hits
PF00041 fn3, 2 hits
PF00054 Laminin_G_1, 2 hits
PF02210 Laminin_G_2, 1 hit
SMARTiView protein in SMART
SM00181 EGF, 3 hits
SM00179 EGF_CA, 2 hits
SM00060 FN3, 2 hits
SM00282 LamG, 3 hits
SUPFAMiSSF49265 SSF49265, 1 hit
SSF49899 SSF49899, 3 hits
PROSITEiView protein in PROSITE
PS00022 EGF_1, 3 hits
PS01186 EGF_2, 2 hits
PS50026 EGF_3, 3 hits
PS50853 FN3, 2 hits
PS50025 LAM_G_DOMAIN, 3 hits

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 nameiEGFLA_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: Q63HQ2
Secondary accession number(s): A8K6D7
, Q5U643, Q6P3V1, Q8N124, Q8N197, Q8N7Y0, Q8N8N5, Q8NAL2
<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: October 2, 2007
Last modified: December 5, 2018
This is version 133 of the entry and version 2 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

Complete proteome, Direct protein sequencing, Reference proteome

Documents

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