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Q8IUX8

- EGFL6_HUMAN

UniProt

Q8IUX8 - EGFL6_HUMAN

Protein

Epidermal growth factor-like protein 6

Gene

EGFL6

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 97 (01 Oct 2014)
      Sequence version 1 (01 Mar 2003)
      Previous versions | rss
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    Functioni

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

    GO - Molecular functioni

    1. calcium ion binding Source: InterPro
    2. integrin binding Source: ProtInc

    GO - Biological processi

    1. cell adhesion Source: UniProtKB-KW
    2. cell cycle Source: ProtInc
    3. cell differentiation Source: UniProtKB-KW
    4. extracellular matrix organization Source: Ensembl
    5. multicellular organismal development Source: UniProtKB-KW
    6. positive regulation of cell-substrate adhesion Source: Ensembl

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Biological processi

    Cell adhesion, Differentiation

    Keywords - Ligandi

    Calcium

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Epidermal growth factor-like protein 6
    Short name:
    EGF-like protein 6
    Alternative name(s):
    MAM and EGF domains-containing gene protein
    Gene namesi
    Name:EGFL6
    Synonyms:MAEG
    ORF Names:PP648, UNQ281/PRO320
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome X

    Organism-specific databases

    HGNCiHGNC:3235. EGFL6.

    Subcellular locationi

    GO - Cellular componenti

    1. basement membrane Source: UniProtKB-SubCell
    2. extracellular space Source: ProtInc
    3. membrane Source: InterPro

    Keywords - Cellular componenti

    Basement membrane, Extracellular matrix, Secreted

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA27668.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2121Sequence AnalysisAdd
    BLAST
    Chaini22 – 553532Epidermal growth factor-like protein 6PRO_0000295811Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi98 ↔ 109PROSITE-ProRule annotation
    Disulfide bondi105 ↔ 118PROSITE-ProRule annotation
    Disulfide bondi120 ↔ 132PROSITE-ProRule annotation
    Disulfide bondi178 ↔ 191PROSITE-ProRule annotation
    Disulfide bondi185 ↔ 200PROSITE-ProRule annotation
    Disulfide bondi223 ↔ 236PROSITE-ProRule annotation
    Disulfide bondi230 ↔ 245PROSITE-ProRule annotation
    Disulfide bondi247 ↔ 258PROSITE-ProRule annotation
    Glycosylationi397 – 3971N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    PaxDbiQ8IUX8.
    PRIDEiQ8IUX8.

    PTM databases

    PhosphoSiteiQ8IUX8.

    Expressioni

    Developmental stagei

    Only detected in fetal tissues.2 Publications

    Gene expression databases

    BgeeiQ8IUX8.
    CleanExiHS_EGFL6.
    GenevestigatoriQ8IUX8.

    Organism-specific databases

    HPAiHPA001838.

    Interactioni

    Protein-protein interaction databases

    BioGridi117459. 2 interactions.
    IntActiQ8IUX8. 2 interactions.
    MINTiMINT-1398966.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8IUX8.
    SMRiQ8IUX8. Positions 36-254.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini65 – 9127EGF-like 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini94 – 13340EGF-like 2; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini137 – 17337EGF-like 3PROSITE-ProRule annotationAdd
    BLAST
    Domaini174 – 21239EGF-like 4; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini219 – 25941EGF-like 5; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini400 – 546147MAMPROSITE-ProRule annotationAdd
    BLAST

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili331 – 36333Sequence AnalysisAdd
    BLAST

    Sequence similaritiesi

    Belongs to the nephronectin family.Curated
    Contains 5 EGF-like domains.PROSITE-ProRule annotation
    Contains 1 MAM domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Coiled coil, EGF-like domain, Repeat, Signal

    Phylogenomic databases

    eggNOGiNOG254583.
    HOVERGENiHBG108200.
    OMAiPQSNFCL.
    OrthoDBiEOG73RBB8.
    PhylomeDBiQ8IUX8.
    TreeFamiTF330819.

    Family and domain databases

    Gene3Di2.40.155.10. 1 hit.
    InterProiIPR008985. 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]
    PfamiPF07645. EGF_CA. 3 hits.
    PF00629. MAM. 1 hit.
    [Graphical view]
    SMARTiSM00181. EGF. 2 hits.
    SM00179. EGF_CA. 3 hits.
    [Graphical view]
    SUPFAMiSSF49899. SSF49899. 1 hit.
    SSF57184. SSF57184. 1 hit.
    PROSITEiPS00010. 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]

    Sequences (2)i

    Sequence statusi: Complete.

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

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8IUX8-1) [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

    MPLPWSLALP LLLSWVAGGF GNAASARHHG LLASARQPGV CHYGTKLACC    50
    YGWRRNSKGV CEATCEPGCK FGECVGPNKC RCFPGYTGKT CSQDVNECGM 100
    KPRPCQHRCV NTHGSYKCFC LSGHMLMPDA TCVNSRTCAM INCQYSCEDT 150
    EEGPQCLCPS SGLRLAPNGR DCLDIDECAS GKVICPYNRR CVNTFGSYYC 200
    KCHIGFELQY ISGRYDCIDI NECTMDSHTC SHHANCFNTQ GSFKCKCKQG 250
    YKGNGLRCSA IPENSVKEVL RAPGTIKDRI KKLLAHKNSM KKKAKIKNVT 300
    PEPTRTPTPK VNLQPFNYEE IVSRGGNSHG GKKGNEEKMK EGLEDEKREE 350
    KALKNDIEER SLRGDVFFPK VNEAGEFGLI LVQRKALTSK LEHKDLNISV 400
    DCSFNHGICD WKQDREDDFD WNPADRDNAI GFYMAVPALA GHKKDIGRLK 450
    LLLPDLQPQS NFCLLFDYRL AGDKVGKLRV FVKNSNNALA WEKTTSEDEK 500
    WKTGKIQLYQ GTDATKSIIF EAERGKGKTG EIAVDGVLLV SGLCPDSLLS 550
    VDD 553
    Length:553
    Mass (Da):61,317
    Last modified:March 1, 2003 - v1
    Checksum:i3AE93A0362E861E0
    GO
    Isoform 2 (identifier: Q8IUX8-2) [UniParc]FASTAAdd to Basket

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

    Show »
    Length:554
    Mass (Da):61,388
    Checksum:iD519238F2A604101
    GO

    Sequence cautioni

    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.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti22 – 221N → D in BAC11477. (PubMed:14702039)Curated
    Sequence conflicti83 – 831F → L in CAB56014. (PubMed:17974005)Curated
    Sequence conflicti134 – 1341N → Y in CAB56014. (PubMed:17974005)Curated
    Sequence conflicti230 – 2301C → S in CAB56014. (PubMed:17974005)Curated
    Sequence conflicti320 – 3201E → G in CAB56014. (PubMed:17974005)Curated
    Sequence conflicti464 – 4641L → S in CAB56014. (PubMed:17974005)Curated
    Sequence conflicti521 – 5211E → V in CAB56014. (PubMed:17974005)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti66 – 661E → K.
    Corresponds to variant rs16979010 [ dbSNP | Ensembl ].
    VAR_033366
    Natural varianti164 – 1641R → C.
    Corresponds to variant rs34613284 [ dbSNP | Ensembl ].
    VAR_033367
    Natural varianti508 – 5081L → F.1 Publication
    Corresponds to variant rs34550481 [ dbSNP | Ensembl ].
    VAR_033368
    Natural varianti535 – 5351D → N.
    Corresponds to variant rs16979033 [ dbSNP | Ensembl ].
    VAR_033369

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei394 – 3941K → KA in isoform 2. 1 PublicationVSP_027089

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSiCCDS14155.1. [Q8IUX8-1]
    CCDS55370.1. [Q8IUX8-2]
    PIRiT17324.
    RefSeqiNP_001161362.1. NM_001167890.1. [Q8IUX8-2]
    NP_056322.2. NM_015507.3. [Q8IUX8-1]
    UniGeneiHs.12844.

    Genome annotation databases

    EnsembliENST00000361306; ENSP00000355126; ENSG00000198759. [Q8IUX8-1]
    ENST00000380602; ENSP00000369976; ENSG00000198759. [Q8IUX8-2]
    GeneIDi25975.
    KEGGihsa:25975.
    UCSCiuc004cvi.3. human. [Q8IUX8-1]
    uc004cvj.3. human. [Q8IUX8-2]

    Polymorphism databases

    DMDMi74728003.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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 .
    CCDSi CCDS14155.1. [Q8IUX8-1 ]
    CCDS55370.1. [Q8IUX8-2 ]
    PIRi T17324.
    RefSeqi NP_001161362.1. NM_001167890.1. [Q8IUX8-2 ]
    NP_056322.2. NM_015507.3. [Q8IUX8-1 ]
    UniGenei Hs.12844.

    3D structure databases

    ProteinModelPortali Q8IUX8.
    SMRi Q8IUX8. Positions 36-254.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 117459. 2 interactions.
    IntActi Q8IUX8. 2 interactions.
    MINTi MINT-1398966.

    PTM databases

    PhosphoSitei Q8IUX8.

    Polymorphism databases

    DMDMi 74728003.

    Proteomic databases

    PaxDbi Q8IUX8.
    PRIDEi Q8IUX8.

    Protocols and materials databases

    DNASUi 25975.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000361306 ; ENSP00000355126 ; ENSG00000198759 . [Q8IUX8-1 ]
    ENST00000380602 ; ENSP00000369976 ; ENSG00000198759 . [Q8IUX8-2 ]
    GeneIDi 25975.
    KEGGi hsa:25975.
    UCSCi uc004cvi.3. human. [Q8IUX8-1 ]
    uc004cvj.3. human. [Q8IUX8-2 ]

    Organism-specific databases

    CTDi 25975.
    GeneCardsi GC0XP013497.
    HGNCi HGNC:3235. EGFL6.
    HPAi HPA001838.
    MIMi 300239. gene.
    neXtProti NX_Q8IUX8.
    PharmGKBi PA27668.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG254583.
    HOVERGENi HBG108200.
    OMAi PQSNFCL.
    OrthoDBi EOG73RBB8.
    PhylomeDBi Q8IUX8.
    TreeFami TF330819.

    Miscellaneous databases

    GenomeRNAii 25975.
    NextBioi 47618.
    PROi Q8IUX8.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q8IUX8.
    CleanExi HS_EGFL6.
    Genevestigatori Q8IUX8.

    Family and domain databases

    Gene3Di 2.40.155.10. 1 hit.
    InterProi IPR008985. 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 ]
    Pfami PF07645. EGF_CA. 3 hits.
    PF00629. MAM. 1 hit.
    [Graphical view ]
    SMARTi SM00181. EGF. 2 hits.
    SM00179. EGF_CA. 3 hits.
    [Graphical view ]
    SUPFAMi SSF49899. SSF49899. 1 hit.
    SSF57184. SSF57184. 1 hit.
    PROSITEi PS00010. 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 ]
    ProtoNeti Search...

    Publicationsi

    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.
      , 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. 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.
      , 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. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Brain.
    7. 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. Cited for: VARIANT [LARGE SCALE ANALYSIS] PHE-508.

    Entry informationi

    Entry nameiEGFL6_HUMAN
    AccessioniPrimary (citable) accession number: Q8IUX8
    Secondary accession number(s): B2RCB1
    , Q6UXJ1, Q8NBV0, Q8WYG3, Q9NY67, Q9NZL7, Q9UFK6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 24, 2007
    Last sequence update: March 1, 2003
    Last modified: October 1, 2014
    This is version 97 of the entry and version 1 of the sequence. [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, Reference proteome

    Documents

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

    External Data

    Dasty 3