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Q9H4G0

- E41L1_HUMAN

UniProt

Q9H4G0 - E41L1_HUMAN

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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

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
Complete GO annotation...

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-KW
  2. cytosol Source: Reactome
  3. extrinsic component of membrane Source: InterPro
  4. plasma membrane Source: Reactome
Complete GO annotation...

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 non-syndromic 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

BgeeiQ9H4G0.
ExpressionAtlasiQ9H4G0. baseline and differential.
GenevestigatoriQ9H4G0.

Organism-specific databases

HPAiHPA054104.
HPA056817.

Interactioni

Subunit structurei

Interacts with AGAP2.1 Publication

Protein-protein interaction databases

BioGridi108350. 44 interactions.
IntActiQ9H4G0. 5 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.
GeneTreeiENSGT00760000118823.
HOVERGENiHBG007777.
InParanoidiQ9H4G0.
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

        10         20         30         40         50
MTTETGPDSE VKKAQEEAPQ QPEAAAAVTT PVTPAGHGHP EANSNEKHPS
60 70 80 90 100
QQDTRPAEQS LDMEEKDYSE ADGLSERTTP SKAQKSPQKI AKKYKSAICR
110 120 130 140 150
VTLLDASEYE CEVEKHGRGQ VLFDLVCEHL NLLEKDYFGL TFCDADSQKN
160 170 180 190 200
WLDPSKEIKK QIRSSPWNFA FTVKFYPPDP AQLTEDITRY YLCLQLRADI
210 220 230 240 250
ITGRLPCSFV THALLGSYAV QAELGDYDAE EHVGNYVSEL RFAPNQTREL
260 270 280 290 300
EERIMELHKT YRGMTPGEAE IHFLENAKKL SMYGVDLHHA KDSEGIDIML
310 320 330 340 350
GVCANGLLIY RDRLRINRFA WPKILKISYK RSNFYIKIRP GEYEQFESTI
360 370 380 390 400
GFKLPNHRSA KRLWKVCIEH HTFFRLVSPE PPPKGFLVMG SKFRYSGRTQ
410 420 430 440 450
AQTRQASALI DRPAPFFERS SSKRYTMSRS LDGAEFSRPA SVSENHDAGP
460 470 480 490 500
DGDKRDEDGE SGGQRSEAEE GEVRTPTKIK ELKPEQETTP RHKQEFLDKP
510 520 530 540 550
EDVLLKHQAS INELKRTLKE PNSKLIHRDR DWERERRLPS SPASPSPKGT
560 570 580 590 600
PEKANERAGL REGSEEKVKP PRPRAPESDT GDEDQDQERD TVFLKDNHLA
610 620 630 640 650
IERKCSSITV SSTSSLEAEV DFTVIGDYHG SAFEDFSRSL PELDRDKSDS
660 670 680 690 700
DTEGLLFSRD LNKGAPSQDD ESGGIEDSPD RGACSTPDMP QFEPVKTETM
710 720 730 740 750
TVSSLAIRKK IEPEAVLQTR VSAMDNTQQV DGSASVGREF IATTPSITTE
760 770 780 790 800
TISTTMENSL KSGKGAAAMI PGPQTVATEI RSLSPIIGKD VLTSTYGATA
810 820 830 840 850
ETLSTSTTTH VTKTVKGGFS ETRIEKRIII TGDEDVDQDQ ALALAIKEAK
860 870 880
LQHPDMLVTK AVVYRETDPS PEERDKKPQE S
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.Curated

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:
EMBLi
GenBanki
DDBJi
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]
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.
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:
EMBLi
GenBanki
DDBJi
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 ]
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. 44 interactions.
IntActi Q9H4G0. 5 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 .
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 non-syndromic intellectual disability.
PharmGKBi PA27811.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG242913.
GeneTreei ENSGT00760000118823.
HOVERGENi HBG007777.
InParanoidi Q9H4G0.
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

Bgeei Q9H4G0.
ExpressionAtlasi Q9H4G0. baseline and differential.
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

« Hide 'large scale' publications
  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: November 26, 2014
This is version 133 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