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Protein

Pikachurin

Gene

EGFLAM

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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

GO - Molecular functioni

GO - Biological processi

Names & Taxonomyi

Protein namesi
Recommended name:
Pikachurin
Alternative name(s):
Agrin-like protein
EGF-like, fibronectin type-III and laminin G-like domain-containing protein
Gene namesi
Name:EGFLAM
Synonyms:AGRINL, AGRNL, PIKA
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000164318.17
HGNCiHGNC:26810 EGFLAM
MIMi617683 gene
neXtProtiNX_Q63HQ2

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

Keywords - Cellular componenti

Cell junction, Extracellular matrix, Secreted, Synapse

Pathology & Biotechi

Organism-specific databases

DisGeNETi133584
OpenTargetsiENSG00000164318
PharmGKBiPA147358056

Polymorphism and mutation databases

BioMutaiEGFLAM
DMDMi158705944

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 24Sequence analysisAdd BLAST24
ChainiPRO_000030680325 – 1017PikachurinAdd BLAST993

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi47N-linked (GlcNAc...) asparagineSequence analysis1
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

Post-translational modificationi

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

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

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

PTM databases

iPTMnetiQ63HQ2
PhosphoSitePlusiQ63HQ2

Expressioni

Gene expression databases

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

Interactioni

Subunit structurei

Interacts with DAG1 alpha-dystroglycan.By similarity

Protein-protein interaction databases

BioGridi126364, 6 interactors
STRINGi9606.ENSP00000346964

Structurei

3D structure databases

ProteinModelPortaliQ63HQ2
SMRiQ63HQ2
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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

eggNOGiKOG0613 Eukaryota
KOG3509 Eukaryota
ENOG410XRPX LUCA
GeneTreeiENSGT00930000150942
HOVERGENiHBG107839
InParanoidiQ63HQ2
OMAiLGHWHEL
OrthoDBiEOG091G048M
PhylomeDBiQ63HQ2
TreeFamiTF326548

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

Sequences (5+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 5 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
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

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:
D6RG24D6RG24_HUMAN
Pikachurin
EGFLAM
47Annotation score:

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
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
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:
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

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]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

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

CTDi133584
DisGeNETi133584
EuPathDBiHostDB:ENSG00000164318.17
GeneCardsiEGFLAM
HGNCiHGNC:26810 EGFLAM
MIMi617683 gene
neXtProtiNX_Q63HQ2
OpenTargetsiENSG00000164318
PharmGKBiPA147358056
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0613 Eukaryota
KOG3509 Eukaryota
ENOG410XRPX LUCA
GeneTreeiENSGT00930000150942
HOVERGENiHBG107839
InParanoidiQ63HQ2
OMAiLGHWHEL
OrthoDBiEOG091G048M
PhylomeDBiQ63HQ2
TreeFamiTF326548

Miscellaneous databases

ChiTaRSiEGFLAM human
GeneWikiiPikachurin
GenomeRNAii133584
PROiPR:Q63HQ2
SOURCEiSearch...

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
ProtoNetiSearch...

Entry informationi

Entry nameiEGFLA_HUMAN
AccessioniPrimary (citable) accession number: Q63HQ2
Secondary accession number(s): A8K6D7
, Q5U643, Q6P3V1, Q8N124, Q8N197, Q8N7Y0, Q8N8N5, Q8NAL2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 2, 2007
Last sequence update: October 2, 2007
Last modified: November 7, 2018
This is version 132 of the entry and version 2 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

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