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Q9HCM4 (E41L5_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 108. 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:
Band 4.1-like protein 5
Gene names
Name:EPB41L5
Synonyms:KIAA1548
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length733 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May contribute to the correct positioning of tight junctions during the establishment of polarity in epithelial cells. Ref.5

Subunit structure

Interacts with MPP5, CRB2 and CRB3. Ref.5

Subcellular location

Cytoplasm. Cell junctionadherens junction. Note: Associated with the plasma membrane. Colocalizes with CTNNB1, an adherens junction marker By similarity.

Domain

The FERM domain binds to CRB1.

Sequence similarities

Contains 1 FERM domain.

Ontologies

Keywords
   Cellular componentCell junction
Cytoplasm
   Coding sequence diversityAlternative splicing
Polymorphism
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processactomyosin structure organization

Inferred from electronic annotation. Source: Ensembl

apical constriction

Inferred from electronic annotation. Source: Ensembl

axial mesoderm morphogenesis

Inferred from electronic annotation. Source: Ensembl

cellular response to transforming growth factor beta stimulus

Inferred from electronic annotation. Source: Ensembl

ectoderm development

Inferred from electronic annotation. Source: Ensembl

embryonic foregut morphogenesis

Inferred from electronic annotation. Source: Ensembl

endoderm development

Inferred from electronic annotation. Source: Ensembl

epithelial to mesenchymal transition

Inferred from electronic annotation. Source: Ensembl

in utero embryonic development

Inferred from electronic annotation. Source: Ensembl

left/right axis specification

Inferred from electronic annotation. Source: Ensembl

mesoderm migration involved in gastrulation

Inferred from electronic annotation. Source: Ensembl

negative regulation of cell-cell adhesion

Inferred from electronic annotation. Source: Ensembl

negative regulation of protein binding

Inferred from electronic annotation. Source: Ensembl

neural plate morphogenesis

Inferred from electronic annotation. Source: Ensembl

paraxial mesoderm development

Inferred from electronic annotation. Source: Ensembl

positive regulation of epithelial cell migration

Inferred from electronic annotation. Source: Ensembl

positive regulation of epithelial to mesenchymal transition

Inferred from electronic annotation. Source: Ensembl

positive regulation of focal adhesion assembly

Inferred from electronic annotation. Source: Ensembl

positive regulation of protein binding

Inferred from electronic annotation. Source: Ensembl

posttranscriptional regulation of gene expression

Inferred from electronic annotation. Source: Ensembl

regulation of establishment of protein localization

Inferred from electronic annotation. Source: Ensembl

somite rostral/caudal axis specification

Inferred from electronic annotation. Source: Ensembl

substrate-dependent cell migration, cell attachment to substrate

Inferred from electronic annotation. Source: Ensembl

unidimensional cell growth

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentcytoplasm

Inferred from direct assay. Source: HPA

cytoskeleton

Inferred from electronic annotation. Source: InterPro

extrinsic component of membrane

Inferred from electronic annotation. Source: InterPro

focal adhesion

Inferred from electronic annotation. Source: Ensembl

nucleus

Inferred from direct assay. Source: HPA

plasma membrane

Inferred from direct assay. Source: HPA

ruffle membrane

Inferred from electronic annotation. Source: Ensembl

Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9HCM4-1)

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: Q9HCM4-2)

The sequence of this isoform differs from the canonical sequence as follows:
     446-505: CIPLNIDLLN...EVEYETLKDT → WLSAASDCCQ...FPGHTAMTEI
     506-733: Missing.
Isoform 3 (identifier: Q9HCM4-3)

The sequence of this isoform differs from the canonical sequence as follows:
     668-669: PQ → P
Note: No experimental confirmation available.
Isoform 4 (identifier: Q9HCM4-4)

The sequence of this isoform differs from the canonical sequence as follows:
     669-687: QSGAMSNGLAGCEMLLTGK → LWSHFGRRSCPEAEVFTDH
     688-733: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 733733Band 4.1-like protein 5
PRO_0000219406

Regions

Domain43 – 327285FERM

Amino acid modifications

Modified residue4361Phosphoserine Ref.7

Natural variations

Alternative sequence446 – 50560CIPLN…TLKDT → WLSAASDCCQRGGNQWNTRA LPPPQTAHRNYTDFVHEHNV KNAGIRHDVHFPGHTAMTEI in isoform 2.
VSP_033034
Alternative sequence506 – 733228Missing in isoform 2.
VSP_033035
Alternative sequence668 – 6692PQ → P in isoform 3.
VSP_033036
Alternative sequence669 – 68719QSGAM…LLTGK → LWSHFGRRSCPEAEVFTDH in isoform 4.
VSP_033037
Alternative sequence688 – 73346Missing in isoform 4.
VSP_033038
Natural variant3341H → Y.
Corresponds to variant rs28930677 [ dbSNP | Ensembl ].
VAR_048357
Natural variant4621A → T. Ref.1 Ref.4
Corresponds to variant rs1034489 [ dbSNP | Ensembl ].
VAR_042699

Sequences

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

Last modified April 29, 2008. Version 3.
Checksum: A3712B5927C9C199

FASTA73381,856
        10         20         30         40         50         60 
MLSFFRRTLG RRSMRKHAEK ERLREAQRAA THIPAAGDSK SIITCRVSLL DGTDVSVDLP 

        70         80         90        100        110        120 
KKAKGQELFD QIMYHLDLIE SDYFGLRFMD SAQVAHWLDG TKSIKKQVKI GSPYCLHLRV 

       130        140        150        160        170        180 
KFYSSEPNNL REELTRYLFV LQLKQDILSG KLDCPFDTAV QLAAYNLQAE LGDYDLAEHS 

       190        200        210        220        230        240 
PELVSEFRFV PIQTEEMELA IFEKWKEYRG QTPAQAETNY LNKAKWLEMY GVDMHVVKAR 

       250        260        270        280        290        300 
DGNDYSLGLT PTGVLVFEGD TKIGLFFWPK ITRLDFKKNK LTLVVVEDDD QGKEQEHTFV 

       310        320        330        340        350        360 
FRLDHPKACK HLWKCAVEHH AFFRLRGPVQ KSSHRSGFIR LGSRFRYSGK TEYQTTKTNK 

       370        380        390        400        410        420 
ARRSTSFERR PSKRYSRRTL QMKACATKPE ELSVHNNVST QSNGSQQAWG MRSALPVSPS 

       430        440        450        460        470        480 
ISSAPVPVEI ENLPQSPGTD QHDRKCIPLN IDLLNSPDLL EATIGDVIGA SDTMETSQAL 

       490        500        510        520        530        540 
NDVNVATRLP GLGEPEVEYE TLKDTSEKLK QLEMENSPLL SPRSNIDVNI NSQEEVVKLT 

       550        560        570        580        590        600 
EKCLNNVIES PGLNVMRVPP DFKSNILKAQ VEAVHKVTKE DSLLSHKNAN VQDAATNSAV 

       610        620        630        640        650        660 
LNENNVPLPK ESLETLMLIT PADSGSVLKE ATDELDALLA SLTENLIDHT VAPQVSSTSM 

       670        680        690        700        710        720 
ITPRWIVPQS GAMSNGLAGC EMLLTGKEGH GNKDGISLIS PPAPFLVDAV TSSGPILAEE 

       730 
AVLKQKCLLT TEL 

« Hide

Isoform 2 [UniParc].

Checksum: D481C3DD2A16B630
Show »

FASTA50557,886
Isoform 3 [UniParc].

Checksum: 1DA5B2DC1599E331
Show »

FASTA73281,728
Isoform 4 [UniParc].

Checksum: C91D55CAC3D5C19D
Show »

FASTA68777,520

References

« Hide 'large scale' references
[1]"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] (ISOFORMS 2 AND 4), VARIANT THR-462.
[2]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].
[3]"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: Retinoblastoma and Testis.
[4]"Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
Nagase T., Kikuno R., Nakayama M., Hirosawa M., Ohara O.
DNA Res. 7:273-281(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 188-732 (ISOFORM 3), VARIANT THR-462.
Tissue: Brain.
[5]"FERM protein EPB41L5 is a novel member of the mammalian CRB-MPP5 polarity complex."
Gosens I., Sessa A., den Hollander A.I., Letteboer S.J.F., Belloni V., Arends M.L., Le Bivic A., Cremers F.P.M., Broccoli V., Roepman R.
Exp. Cell Res. 313:3959-3970(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, INTERACTION WITH MPP5; CRB2 AND CRB3.
[6]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[7]"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-436, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Leukemic T-cell.
[8]"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK023019 mRNA. Translation: BAB14360.1.
AK290895 mRNA. Translation: BAF83584.1.
CH471103 Genomic DNA. Translation: EAW95234.1.
BC032822 mRNA. Translation: AAH32822.1.
BC054508 mRNA. Translation: AAH54508.1.
AB046768 mRNA. Translation: BAB13374.1.
CCDSCCDS2130.1. [Q9HCM4-1]
CCDS54392.1. [Q9HCM4-2]
CCDS54393.1. [Q9HCM4-4]
RefSeqNP_001171866.1. NM_001184937.1. [Q9HCM4-4]
NP_001171867.1. NM_001184938.1. [Q9HCM4-2]
NP_001171868.1. NM_001184939.1. [Q9HCM4-2]
NP_065960.2. NM_020909.3. [Q9HCM4-1]
UniGeneHs.369232.

3D structure databases

ProteinModelPortalQ9HCM4.
SMRQ9HCM4. Positions 45-324.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid121701. 6 interactions.
IntActQ9HCM4. 4 interactions.
MINTMINT-5005367.
STRING9606.ENSP00000263713.

PTM databases

PhosphoSiteQ9HCM4.

Polymorphism databases

DMDM187608883.

Proteomic databases

MaxQBQ9HCM4.
PaxDbQ9HCM4.
PRIDEQ9HCM4.

Protocols and materials databases

DNASU57669.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000263713; ENSP00000263713; ENSG00000115109. [Q9HCM4-1]
ENST00000331393; ENSP00000329687; ENSG00000115109. [Q9HCM4-2]
ENST00000443124; ENSP00000393722; ENSG00000115109. [Q9HCM4-2]
ENST00000443902; ENSP00000393856; ENSG00000115109. [Q9HCM4-4]
ENST00000452780; ENSP00000390439; ENSG00000115109. [Q9HCM4-3]
GeneID57669.
KEGGhsa:57669.
UCSCuc002tmg.3. human. [Q9HCM4-1]
uc002tmh.4. human. [Q9HCM4-2]
uc010fll.3. human. [Q9HCM4-4]
uc010flm.3. human. [Q9HCM4-3]

Organism-specific databases

CTD57669.
GeneCardsGC02P120865.
HGNCHGNC:19819. EPB41L5.
HPAHPA037563.
HPA037564.
MIM611730. gene.
neXtProtNX_Q9HCM4.
PharmGKBPA134862834.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG269561.
HOGENOMHOG000231632.
HOVERGENHBG051434.
InParanoidQ9HCM4.
OMALEATIGD.
OrthoDBEOG73FQM2.
PhylomeDBQ9HCM4.
TreeFamTF319780.

Gene expression databases

ArrayExpressQ9HCM4.
BgeeQ9HCM4.
CleanExHS_EPB41L5.
GenevestigatorQ9HCM4.

Family and domain databases

Gene3D1.20.80.10. 1 hit.
2.30.29.30. 1 hit.
InterProIPR019749. Band_41_domain.
IPR019750. Band_41_fam.
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.
IPR029071. Ubiquitin-rel_dom.
[Graphical view]
PfamPF08736. FA. 1 hit.
PF09380. FERM_C. 1 hit.
PF00373. FERM_M. 1 hit.
PF09379. FERM_N. 1 hit.
[Graphical view]
PRINTSPR00935. BAND41.
PR00661. ERMFAMILY.
SMARTSM00295. B41. 1 hit.
[Graphical view]
SUPFAMSSF47031. SSF47031. 1 hit.
SSF54236. SSF54236. 1 hit.
PROSITEPS00660. FERM_1. 1 hit.
PS00661. FERM_2. 1 hit.
PS50057. FERM_3. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSEPB41L5. human.
GeneWikiEPB41L5.
GenomeRNAi57669.
NextBio64455.
PROQ9HCM4.
SOURCESearch...

Entry information

Entry nameE41L5_HUMAN
AccessionPrimary (citable) accession number: Q9HCM4
Secondary accession number(s): Q7Z5S1, Q8IZ12, Q9H975
Entry history
Integrated into UniProtKB/Swiss-Prot: July 11, 2001
Last sequence update: April 29, 2008
Last modified: July 9, 2014
This is version 108 of the entry and version 3 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 2

Human chromosome 2: entries, gene names and cross-references to MIM