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Q8IUX8 (EGFL6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 96. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Epidermal growth factor-like protein 6

Short name=EGF-like protein 6
Alternative name(s):
MAM and EGF domains-containing gene protein
Gene names
Name:EGFL6
Synonyms:MAEG
ORF Names:PP648, UNQ281/PRO320
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length553 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

May bind integrin alpha-8/beta-1 and play a role in hair follicle morphogenesis. Promotes matrix assembly By similarity.

Subcellular location

Secretedextracellular spaceextracellular matrixbasement membrane By similarity.

Developmental stage

Only detected in fetal tissues. Ref.1 Ref.2

Sequence similarities

Belongs to the nephronectin family.

Contains 5 EGF-like domains.

Contains 1 MAM domain.

Sequence caution

The sequence AAG22483.1 differs from that shown. Reason: Frameshift at position 89.

The sequence AAQ88699.1 differs from that shown. Reason: Frameshift at position 338.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8IUX8-1)

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.
Isoform 2 (identifier: Q8IUX8-2)

The sequence of this isoform differs from the canonical sequence as follows:
     394-394: K → KA

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2121 Potential
Chain22 – 553532Epidermal growth factor-like protein 6
PRO_0000295811

Regions

Domain65 – 9127EGF-like 1
Domain94 – 13340EGF-like 2; calcium-binding Potential
Domain137 – 17337EGF-like 3
Domain174 – 21239EGF-like 4; calcium-binding Potential
Domain219 – 25941EGF-like 5; calcium-binding Potential
Domain400 – 546147MAM
Coiled coil331 – 36333 Potential

Amino acid modifications

Glycosylation3971N-linked (GlcNAc...) Potential
Disulfide bond98 ↔ 109 By similarity
Disulfide bond105 ↔ 118 By similarity
Disulfide bond120 ↔ 132 By similarity
Disulfide bond178 ↔ 191 By similarity
Disulfide bond185 ↔ 200 By similarity
Disulfide bond223 ↔ 236 By similarity
Disulfide bond230 ↔ 245 By similarity
Disulfide bond247 ↔ 258 By similarity

Natural variations

Alternative sequence3941K → KA in isoform 2.
VSP_027089
Natural variant661E → K.
Corresponds to variant rs16979010 [ dbSNP | Ensembl ].
VAR_033366
Natural variant1641R → C.
Corresponds to variant rs34613284 [ dbSNP | Ensembl ].
VAR_033367
Natural variant5081L → F. Ref.9
Corresponds to variant rs34550481 [ dbSNP | Ensembl ].
VAR_033368
Natural variant5351D → N.
Corresponds to variant rs16979033 [ dbSNP | Ensembl ].
VAR_033369

Experimental info

Sequence conflict221N → D in BAC11477. Ref.5
Sequence conflict831F → L in CAB56014. Ref.6
Sequence conflict1341N → Y in CAB56014. Ref.6
Sequence conflict2301C → S in CAB56014. Ref.6
Sequence conflict3201E → G in CAB56014. Ref.6
Sequence conflict4641L → S in CAB56014. Ref.6
Sequence conflict5211E → V in CAB56014. Ref.6

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified March 1, 2003. Version 1.
Checksum: 3AE93A0362E861E0

FASTA55361,317
        10         20         30         40         50         60 
MPLPWSLALP LLLSWVAGGF GNAASARHHG LLASARQPGV CHYGTKLACC YGWRRNSKGV 

        70         80         90        100        110        120 
CEATCEPGCK FGECVGPNKC RCFPGYTGKT CSQDVNECGM KPRPCQHRCV NTHGSYKCFC 

       130        140        150        160        170        180 
LSGHMLMPDA TCVNSRTCAM INCQYSCEDT EEGPQCLCPS SGLRLAPNGR DCLDIDECAS 

       190        200        210        220        230        240 
GKVICPYNRR CVNTFGSYYC KCHIGFELQY ISGRYDCIDI NECTMDSHTC SHHANCFNTQ 

       250        260        270        280        290        300 
GSFKCKCKQG YKGNGLRCSA IPENSVKEVL RAPGTIKDRI KKLLAHKNSM KKKAKIKNVT 

       310        320        330        340        350        360 
PEPTRTPTPK VNLQPFNYEE IVSRGGNSHG GKKGNEEKMK EGLEDEKREE KALKNDIEER 

       370        380        390        400        410        420 
SLRGDVFFPK VNEAGEFGLI LVQRKALTSK LEHKDLNISV DCSFNHGICD WKQDREDDFD 

       430        440        450        460        470        480 
WNPADRDNAI GFYMAVPALA GHKKDIGRLK LLLPDLQPQS NFCLLFDYRL AGDKVGKLRV 

       490        500        510        520        530        540 
FVKNSNNALA WEKTTSEDEK WKTGKIQLYQ GTDATKSIIF EAERGKGKTG EIAVDGVLLV 

       550 
SGLCPDSLLS VDD 

« Hide

Isoform 2 [UniParc].

Checksum: D519238F2A604101
Show »

FASTA55461,388

References

« Hide 'large scale' references
[1]"Cloning of a novel epidermal growth factor repeat containing gene EGFL6: expressed in tumor and fetal tissues."
Yeung G., Mulero J.J., Berntsen R.P., Loeb D.B., Drmanac R., Ford J.E.
Genomics 62:304-307(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), DEVELOPMENTAL STAGE.
Tissue: Fetal liver.
[2]"Identification of a new EGF-repeat-containing gene from human Xp22: a candidate for developmental disorders."
Buchner G., Orfanelli U., Quaderi N., Bassi M.T., Andolfi G.
Genomics 65:16-23(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), DEVELOPMENTAL STAGE.
Tissue: Teratocarcinoma.
[3]"Large-scale cDNA transfection screening for genes related to cancer development and progression."
Wan D., Gong Y., Qin W., Zhang P., Li J., Wei L., Zhou X., Li H., Qiu X., Zhong F., He L., Yu J., Yao G., Jiang H., Qian L., Yu Y., Shu H., Chen X. expand/collapse author list , Xu H., Guo M., Pan Z., Chen Y., Ge C., Yang S., Gu J.
Proc. Natl. Acad. Sci. U.S.A. 101:15724-15729(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[4]"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment."
Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. expand/collapse author list , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.
Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[5]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Placenta.
[6]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Brain.
[7]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Brain.
[9]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] PHE-508.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF186084 mRNA. Translation: AAF27812.1.
AJ245671 mRNA. Translation: CAB92132.1.
AF193055 mRNA. Translation: AAG22483.1. Frameshift.
AY358333 mRNA. Translation: AAQ88699.1. Frameshift.
AK075214 mRNA. Translation: BAC11477.1.
AK315018 mRNA. Translation: BAG37508.1.
AL117610 mRNA. Translation: CAB56014.2.
CH471074 Genomic DNA. Translation: EAW98822.1.
BC038587 mRNA. Translation: AAH38587.1.
CCDSCCDS14155.1. [Q8IUX8-1]
CCDS55370.1. [Q8IUX8-2]
PIRT17324.
RefSeqNP_001161362.1. NM_001167890.1. [Q8IUX8-2]
NP_056322.2. NM_015507.3. [Q8IUX8-1]
UniGeneHs.12844.

3D structure databases

ProteinModelPortalQ8IUX8.
SMRQ8IUX8. Positions 36-254.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid117459. 2 interactions.
IntActQ8IUX8. 2 interactions.
MINTMINT-1398966.

PTM databases

PhosphoSiteQ8IUX8.

Polymorphism databases

DMDM74728003.

Proteomic databases

PaxDbQ8IUX8.
PRIDEQ8IUX8.

Protocols and materials databases

DNASU25975.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000361306; ENSP00000355126; ENSG00000198759. [Q8IUX8-1]
ENST00000380602; ENSP00000369976; ENSG00000198759. [Q8IUX8-2]
GeneID25975.
KEGGhsa:25975.
UCSCuc004cvi.3. human. [Q8IUX8-1]
uc004cvj.3. human. [Q8IUX8-2]

Organism-specific databases

CTD25975.
GeneCardsGC0XP013497.
HGNCHGNC:3235. EGFL6.
HPAHPA001838.
MIM300239. gene.
neXtProtNX_Q8IUX8.
PharmGKBPA27668.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG254583.
HOVERGENHBG108200.
OMAPQSNFCL.
OrthoDBEOG73RBB8.
PhylomeDBQ8IUX8.
TreeFamTF330819.

Gene expression databases

BgeeQ8IUX8.
CleanExHS_EGFL6.
GenevestigatorQ8IUX8.

Family and domain databases

Gene3D2.40.155.10. 1 hit.
InterProIPR008985. ConA-like_lec_gl_sf.
IPR000742. EG-like_dom.
IPR001881. EGF-like_Ca-bd_dom.
IPR013032. EGF-like_CS.
IPR000152. EGF-type_Asp/Asn_hydroxyl_site.
IPR018097. EGF_Ca-bd_CS.
IPR023413. GFP_like.
IPR009030. Growth_fac_rcpt_N_dom.
IPR000998. MAM_dom.
[Graphical view]
PfamPF07645. EGF_CA. 3 hits.
PF00629. MAM. 1 hit.
[Graphical view]
SMARTSM00181. EGF. 2 hits.
SM00179. EGF_CA. 3 hits.
[Graphical view]
SUPFAMSSF49899. SSF49899. 1 hit.
SSF57184. SSF57184. 1 hit.
PROSITEPS00010. ASX_HYDROXYL. 3 hits.
PS00022. EGF_1. 1 hit.
PS01186. EGF_2. 2 hits.
PS50026. EGF_3. 3 hits.
PS01187. EGF_CA. 3 hits.
PS50060. MAM_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi25975.
NextBio47618.
PROQ8IUX8.
SOURCESearch...

Entry information

Entry nameEGFL6_HUMAN
AccessionPrimary (citable) accession number: Q8IUX8
Secondary accession number(s): B2RCB1 expand/collapse secondary AC list , Q6UXJ1, Q8NBV0, Q8WYG3, Q9NY67, Q9NZL7, Q9UFK6
Entry history
Integrated into UniProtKB/Swiss-Prot: July 24, 2007
Last sequence update: March 1, 2003
Last modified: July 9, 2014
This is version 96 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome X

Human chromosome X: entries, gene names and cross-references to MIM