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Q9H4G0

- E41L1_HUMAN

UniProt

Q9H4G0 - E41L1_HUMAN

Protein

Band 4.1-like protein 1

Gene

EPB41L1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 131 (01 Oct 2014)
      Sequence version 2 (11 Jul 2001)
      Previous versions | rss
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    Functioni

    May function to confer stability and plasticity to neuronal membrane via multiple interactions, including the spectrin-actin-based cytoskeleton, integral membrane channels and membrane-associated guanylate kinases.

    GO - Molecular functioni

    1. structural molecule activity Source: InterPro

    GO - Biological processi

    1. cortical actin cytoskeleton organization Source: InterPro
    2. synaptic transmission Source: Reactome

    Keywords - Ligandi

    Actin-binding

    Enzyme and pathway databases

    ReactomeiREACT_18307. Trafficking of AMPA receptors.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Band 4.1-like protein 1
    Alternative name(s):
    Neuronal protein 4.1
    Short name:
    4.1N
    Gene namesi
    Name:EPB41L1
    Synonyms:KIAA0338
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 20

    Organism-specific databases

    HGNCiHGNC:3378. EPB41L1.

    Subcellular locationi

    GO - Cellular componenti

    1. cytoskeleton Source: UniProtKB-SubCell
    2. cytosol Source: Reactome
    3. extrinsic component of membrane Source: InterPro
    4. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Cytoplasm, Cytoskeleton

    Pathology & Biotechi

    Involvement in diseasei

    Mental retardation, autosomal dominant 11 (MRD11) [MIM:614257]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti854 – 8541P → S in MRD11; results in a 50% reduction of interaction of 4.1N protein to GRIA1 compared to wild-type. 1 Publication
    VAR_066600

    Keywords - Diseasei

    Disease mutation, Mental retardation

    Organism-specific databases

    MIMi614257. phenotype.
    Orphaneti178469. Autosomal dominant nonsyndromic intellectual disability.
    PharmGKBiPA27811.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 881881Band 4.1-like protein 1PRO_0000219395Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei75 – 751Phosphoserine2 Publications
    Modified residuei79 – 791Phosphothreonine1 Publication
    Modified residuei343 – 3431PhosphotyrosineBy similarity
    Modified residuei430 – 4301Phosphoserine1 Publication
    Modified residuei475 – 4751Phosphothreonine1 Publication
    Modified residuei510 – 5101Phosphoserine1 Publication
    Modified residuei540 – 5401Phosphoserine1 Publication
    Modified residuei541 – 5411Phosphoserine1 Publication
    Modified residuei544 – 5441Phosphoserine2 Publications
    Modified residuei546 – 5461Phosphoserine2 Publications
    Modified residuei550 – 5501PhosphothreonineBy similarity
    Modified residuei564 – 5641Phosphoserine1 Publication
    Modified residuei578 – 5781Phosphoserine1 Publication
    Modified residuei648 – 6481Phosphoserine1 Publication
    Modified residuei650 – 6501Phosphoserine2 Publications
    Modified residuei784 – 7841Phosphoserine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ9H4G0.
    PaxDbiQ9H4G0.
    PRIDEiQ9H4G0.

    PTM databases

    PhosphoSiteiQ9H4G0.

    Expressioni

    Tissue specificityi

    Highest expression in brain, lower in heart, kidney, pancreas, placenta, lung and skeletal muscle.

    Gene expression databases

    ArrayExpressiQ9H4G0.
    BgeeiQ9H4G0.
    GenevestigatoriQ9H4G0.

    Organism-specific databases

    HPAiHPA054104.
    HPA056817.

    Interactioni

    Subunit structurei

    Interacts with AGAP2.1 Publication

    Protein-protein interaction databases

    BioGridi108350. 37 interactions.
    IntActiQ9H4G0. 4 interactions.
    MINTiMINT-5005633.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9H4G0.
    SMRiQ9H4G0. Positions 95-377.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini97 – 378282FERMPROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni483 – 54159Spectrin--actin-bindingAdd
    BLAST
    Regioni746 – 881136C-terminal (CTD)Add
    BLAST

    Sequence similaritiesi

    Contains 1 FERM domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiNOG242913.
    HOVERGENiHBG007777.
    KOiK06107.
    OMAiSNEKHPS.
    OrthoDBiEOG7Z69BP.
    PhylomeDBiQ9H4G0.
    TreeFamiTF351626.

    Family and domain databases

    Gene3Di1.20.80.10. 1 hit.
    2.30.29.30. 1 hit.
    InterProiIPR008379. Band_4.1_C.
    IPR019749. Band_41_domain.
    IPR019750. Band_41_fam.
    IPR021187. Band_41_protein.
    IPR000798. Ez/rad/moesin_like.
    IPR014847. FERM-adjacent.
    IPR014352. FERM/acyl-CoA-bd_prot_3-hlx.
    IPR019748. FERM_central.
    IPR019747. FERM_CS.
    IPR000299. FERM_domain.
    IPR018979. FERM_N.
    IPR018980. FERM_PH-like_C.
    IPR011993. PH_like_dom.
    IPR007477. SAB_dom.
    IPR029071. Ubiquitin-rel_dom.
    [Graphical view]
    PfamiPF05902. 4_1_CTD. 1 hit.
    PF08736. FA. 1 hit.
    PF09380. FERM_C. 1 hit.
    PF00373. FERM_M. 1 hit.
    PF09379. FERM_N. 1 hit.
    PF04382. SAB. 1 hit.
    [Graphical view]
    PIRSFiPIRSF002304. Membrane_skeletal_4_1. 1 hit.
    PRINTSiPR00935. BAND41.
    PR00661. ERMFAMILY.
    SMARTiSM00295. B41. 1 hit.
    [Graphical view]
    SUPFAMiSSF47031. SSF47031. 1 hit.
    SSF54236. SSF54236. 1 hit.
    PROSITEiPS00660. FERM_1. 1 hit.
    PS00661. FERM_2. 1 hit.
    PS50057. FERM_3. 1 hit.
    [Graphical view]

    Sequences (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9H4G0-1) [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

    MTTETGPDSE VKKAQEEAPQ QPEAAAAVTT PVTPAGHGHP EANSNEKHPS    50
    QQDTRPAEQS LDMEEKDYSE ADGLSERTTP SKAQKSPQKI AKKYKSAICR 100
    VTLLDASEYE CEVEKHGRGQ VLFDLVCEHL NLLEKDYFGL TFCDADSQKN 150
    WLDPSKEIKK QIRSSPWNFA FTVKFYPPDP AQLTEDITRY YLCLQLRADI 200
    ITGRLPCSFV THALLGSYAV QAELGDYDAE EHVGNYVSEL RFAPNQTREL 250
    EERIMELHKT YRGMTPGEAE IHFLENAKKL SMYGVDLHHA KDSEGIDIML 300
    GVCANGLLIY RDRLRINRFA WPKILKISYK RSNFYIKIRP GEYEQFESTI 350
    GFKLPNHRSA KRLWKVCIEH HTFFRLVSPE PPPKGFLVMG SKFRYSGRTQ 400
    AQTRQASALI DRPAPFFERS SSKRYTMSRS LDGAEFSRPA SVSENHDAGP 450
    DGDKRDEDGE SGGQRSEAEE GEVRTPTKIK ELKPEQETTP RHKQEFLDKP 500
    EDVLLKHQAS INELKRTLKE PNSKLIHRDR DWERERRLPS SPASPSPKGT 550
    PEKANERAGL REGSEEKVKP PRPRAPESDT GDEDQDQERD TVFLKDNHLA 600
    IERKCSSITV SSTSSLEAEV DFTVIGDYHG SAFEDFSRSL PELDRDKSDS 650
    DTEGLLFSRD LNKGAPSQDD ESGGIEDSPD RGACSTPDMP QFEPVKTETM 700
    TVSSLAIRKK IEPEAVLQTR VSAMDNTQQV DGSASVGREF IATTPSITTE 750
    TISTTMENSL KSGKGAAAMI PGPQTVATEI RSLSPIIGKD VLTSTYGATA 800
    ETLSTSTTTH VTKTVKGGFS ETRIEKRIII TGDEDVDQDQ ALALAIKEAK 850
    LQHPDMLVTK AVVYRETDPS PEERDKKPQE S 881
    Length:881
    Mass (Da):98,503
    Last modified:July 11, 2001 - v2
    Checksum:iD923CF554EDB41D3
    GO
    Isoform 2 (identifier: Q9H4G0-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-62: Missing.
         484-495: Missing.
         729-756: Missing.

    Show »
    Length:779
    Mass (Da):87,645
    Checksum:i144DEEB4E9174DF0
    GO
    Isoform 3 (identifier: Q9H4G0-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-62: Missing.
         115-149: Missing.
         484-495: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:772
    Mass (Da):86,506
    Checksum:i3FD79DBAEB979E87
    GO
    Isoform 4 (identifier: Q9H4G0-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-59: MTTETGPDSE...SQQDTRPAEQ → MVFLGRINEVEPAKGLAESLAPTERSVK
         484-495: Missing.
         556-692: Missing.

    Show »
    Length:701
    Mass (Da):78,831
    Checksum:iA1B6C60B3ABF611A
    GO

    Sequence cautioni

    The sequence BAA20796.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti728 – 7281Missing in CAI95019. (PubMed:11780052)Curated
    Sequence conflicti728 – 7281Missing in CAI95025. (PubMed:11780052)Curated
    Sequence conflicti728 – 7281Missing in AAH40259. (PubMed:15489334)Curated
    Sequence conflicti728 – 7281Missing in AAL15446. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti854 – 8541P → S in MRD11; results in a 50% reduction of interaction of 4.1N protein to GRIA1 compared to wild-type. 1 Publication
    VAR_066600

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 6262Missing in isoform 2 and isoform 3. 1 PublicationVSP_023958Add
    BLAST
    Alternative sequencei1 – 5959MTTET…RPAEQ → MVFLGRINEVEPAKGLAESL APTERSVK in isoform 4. 1 PublicationVSP_023959Add
    BLAST
    Alternative sequencei115 – 14935Missing in isoform 3. CuratedVSP_023960Add
    BLAST
    Alternative sequencei484 – 49512Missing in isoform 2, isoform 3 and isoform 4. 2 PublicationsVSP_023961Add
    BLAST
    Alternative sequencei556 – 692137Missing in isoform 4. 1 PublicationVSP_023962Add
    BLAST
    Alternative sequencei729 – 75628Missing in isoform 2. 1 PublicationVSP_023963Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB002336 mRNA. Translation: BAA20796.1. Different initiation.
    AK126875 mRNA. Translation: BAC86733.1.
    AL121895 Genomic DNA. Translation: CAI95018.1.
    AL121895 Genomic DNA. Translation: CAI95019.1.
    AL121895 Genomic DNA. Translation: CAI95023.1.
    AL121895 Genomic DNA. Translation: CAI95024.1.
    AL121895 Genomic DNA. Translation: CAI95025.1.
    AL121895 Genomic DNA. Translation: CAI95027.1.
    BC013885 mRNA. Translation: AAH13885.1.
    BC040259 mRNA. Translation: AAH40259.1.
    AY049789 mRNA. Translation: AAL15446.1.
    CCDSiCCDS13271.1. [Q9H4G0-1]
    CCDS13272.1. [Q9H4G0-2]
    CCDS58770.1. [Q9H4G0-4]
    RefSeqiNP_001245258.1. NM_001258329.1.
    NP_001245259.1. NM_001258330.1. [Q9H4G0-4]
    NP_001245260.1. NM_001258331.1. [Q9H4G0-2]
    NP_036288.2. NM_012156.2. [Q9H4G0-1]
    NP_818932.1. NM_177996.2. [Q9H4G0-2]
    XP_005260376.1. XM_005260319.1.
    XP_006723799.1. XM_006723736.1. [Q9H4G0-1]
    XP_006723800.1. XM_006723737.1. [Q9H4G0-1]
    XP_006723801.1. XM_006723738.1. [Q9H4G0-1]
    UniGeneiHs.437422.

    Genome annotation databases

    EnsembliENST00000202028; ENSP00000202028; ENSG00000088367. [Q9H4G0-2]
    ENST00000338074; ENSP00000337168; ENSG00000088367. [Q9H4G0-1]
    ENST00000373941; ENSP00000363052; ENSG00000088367.
    ENST00000373946; ENSP00000363057; ENSG00000088367. [Q9H4G0-4]
    ENST00000373950; ENSP00000363061; ENSG00000088367. [Q9H4G0-3]
    ENST00000441639; ENSP00000399214; ENSG00000088367. [Q9H4G0-2]
    GeneIDi2036.
    KEGGihsa:2036.
    UCSCiuc002xeu.3. human. [Q9H4G0-2]
    uc002xev.3. human. [Q9H4G0-1]
    uc002xew.3. human. [Q9H4G0-3]
    uc002xex.3. human. [Q9H4G0-4]

    Polymorphism databases

    DMDMi14916561.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB002336 mRNA. Translation: BAA20796.1 . Different initiation.
    AK126875 mRNA. Translation: BAC86733.1 .
    AL121895 Genomic DNA. Translation: CAI95018.1 .
    AL121895 Genomic DNA. Translation: CAI95019.1 .
    AL121895 Genomic DNA. Translation: CAI95023.1 .
    AL121895 Genomic DNA. Translation: CAI95024.1 .
    AL121895 Genomic DNA. Translation: CAI95025.1 .
    AL121895 Genomic DNA. Translation: CAI95027.1 .
    BC013885 mRNA. Translation: AAH13885.1 .
    BC040259 mRNA. Translation: AAH40259.1 .
    AY049789 mRNA. Translation: AAL15446.1 .
    CCDSi CCDS13271.1. [Q9H4G0-1 ]
    CCDS13272.1. [Q9H4G0-2 ]
    CCDS58770.1. [Q9H4G0-4 ]
    RefSeqi NP_001245258.1. NM_001258329.1.
    NP_001245259.1. NM_001258330.1. [Q9H4G0-4 ]
    NP_001245260.1. NM_001258331.1. [Q9H4G0-2 ]
    NP_036288.2. NM_012156.2. [Q9H4G0-1 ]
    NP_818932.1. NM_177996.2. [Q9H4G0-2 ]
    XP_005260376.1. XM_005260319.1.
    XP_006723799.1. XM_006723736.1. [Q9H4G0-1 ]
    XP_006723800.1. XM_006723737.1. [Q9H4G0-1 ]
    XP_006723801.1. XM_006723738.1. [Q9H4G0-1 ]
    UniGenei Hs.437422.

    3D structure databases

    ProteinModelPortali Q9H4G0.
    SMRi Q9H4G0. Positions 95-377.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108350. 37 interactions.
    IntActi Q9H4G0. 4 interactions.
    MINTi MINT-5005633.

    PTM databases

    PhosphoSitei Q9H4G0.

    Polymorphism databases

    DMDMi 14916561.

    Proteomic databases

    MaxQBi Q9H4G0.
    PaxDbi Q9H4G0.
    PRIDEi Q9H4G0.

    Protocols and materials databases

    DNASUi 2036.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000202028 ; ENSP00000202028 ; ENSG00000088367 . [Q9H4G0-2 ]
    ENST00000338074 ; ENSP00000337168 ; ENSG00000088367 . [Q9H4G0-1 ]
    ENST00000373941 ; ENSP00000363052 ; ENSG00000088367 .
    ENST00000373946 ; ENSP00000363057 ; ENSG00000088367 . [Q9H4G0-4 ]
    ENST00000373950 ; ENSP00000363061 ; ENSG00000088367 . [Q9H4G0-3 ]
    ENST00000441639 ; ENSP00000399214 ; ENSG00000088367 . [Q9H4G0-2 ]
    GeneIDi 2036.
    KEGGi hsa:2036.
    UCSCi uc002xeu.3. human. [Q9H4G0-2 ]
    uc002xev.3. human. [Q9H4G0-1 ]
    uc002xew.3. human. [Q9H4G0-3 ]
    uc002xex.3. human. [Q9H4G0-4 ]

    Organism-specific databases

    CTDi 2036.
    GeneCardsi GC20P034679.
    HGNCi HGNC:3378. EPB41L1.
    HPAi HPA054104.
    HPA056817.
    MIMi 602879. gene.
    614257. phenotype.
    neXtProti NX_Q9H4G0.
    Orphaneti 178469. Autosomal dominant nonsyndromic intellectual disability.
    PharmGKBi PA27811.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG242913.
    HOVERGENi HBG007777.
    KOi K06107.
    OMAi SNEKHPS.
    OrthoDBi EOG7Z69BP.
    PhylomeDBi Q9H4G0.
    TreeFami TF351626.

    Enzyme and pathway databases

    Reactomei REACT_18307. Trafficking of AMPA receptors.

    Miscellaneous databases

    ChiTaRSi EPB41L1. human.
    GeneWikii EPB41L1.
    GenomeRNAii 2036.
    NextBioi 8267.
    PROi Q9H4G0.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9H4G0.
    Bgeei Q9H4G0.
    Genevestigatori Q9H4G0.

    Family and domain databases

    Gene3Di 1.20.80.10. 1 hit.
    2.30.29.30. 1 hit.
    InterProi IPR008379. Band_4.1_C.
    IPR019749. Band_41_domain.
    IPR019750. Band_41_fam.
    IPR021187. Band_41_protein.
    IPR000798. Ez/rad/moesin_like.
    IPR014847. FERM-adjacent.
    IPR014352. FERM/acyl-CoA-bd_prot_3-hlx.
    IPR019748. FERM_central.
    IPR019747. FERM_CS.
    IPR000299. FERM_domain.
    IPR018979. FERM_N.
    IPR018980. FERM_PH-like_C.
    IPR011993. PH_like_dom.
    IPR007477. SAB_dom.
    IPR029071. Ubiquitin-rel_dom.
    [Graphical view ]
    Pfami PF05902. 4_1_CTD. 1 hit.
    PF08736. FA. 1 hit.
    PF09380. FERM_C. 1 hit.
    PF00373. FERM_M. 1 hit.
    PF09379. FERM_N. 1 hit.
    PF04382. SAB. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF002304. Membrane_skeletal_4_1. 1 hit.
    PRINTSi PR00935. BAND41.
    PR00661. ERMFAMILY.
    SMARTi SM00295. B41. 1 hit.
    [Graphical view ]
    SUPFAMi SSF47031. SSF47031. 1 hit.
    SSF54236. SSF54236. 1 hit.
    PROSITEi PS00660. FERM_1. 1 hit.
    PS00661. FERM_2. 1 hit.
    PS50057. FERM_3. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro."
      Nagase T., Ishikawa K., Nakajima D., Ohira M., Seki N., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
      DNA Res. 4:141-150(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Brain.
    2. "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 4).
      Tissue: Amygdala.
    3. "The DNA sequence and comparative analysis of human chromosome 20."
      Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E.
      , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.
      Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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] (ISOFORMS 1 AND 2).
      Tissue: Brain and Pancreas.
    5. Liu J., Zhou Y., Zhang B., Peng X., Yuan J., Qiang B.
      Submitted (JUL-2001) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-873 (ISOFORM 1).
    6. "PIKE: a nuclear GTPase that enhances PI3kinase activity and is regulated by protein 4.1N."
      Ye K., Hurt K.J., Wu F.Y., Fang M., Luo H.R., Hong J.J., Blackshaw S., Ferris C.D., Snyder S.H.
      Cell 103:919-930(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH AGAP2.
    7. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
      Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
      Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    8. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-75; THR-79; THR-475; SER-540; SER-541; SER-544; SER-546; SER-578; SER-648; SER-650 AND SER-784, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    9. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
      Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-75; SER-430; SER-510; SER-544; SER-546; SER-564 AND SER-650, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    10. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    11. Cited for: VARIANT MRD11 SER-854, CHARACTERIZATION OF VARIANT MRD11 SER-854.

    Entry informationi

    Entry nameiE41L1_HUMAN
    AccessioniPrimary (citable) accession number: Q9H4G0
    Secondary accession number(s): O15046
    , Q4VXM6, Q4VXM7, Q4VXM8, Q4VXN4, Q6ZT61, Q8IUU7, Q96CV5, Q96L65
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 11, 2001
    Last sequence update: July 11, 2001
    Last modified: October 1, 2014
    This is version 131 of the entry and version 2 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 20
      Human chromosome 20: 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