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Q9HCM4

- E41L5_HUMAN

UniProt

Q9HCM4 - E41L5_HUMAN

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Protein

Band 4.1-like protein 5

Gene
EPB41L5, KIAA1548
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

May contribute to the correct positioning of tight junctions during the establishment of polarity in epithelial cells.1 Publication

GO - Biological processi

  1. actomyosin structure organization Source: Ensembl
  2. apical constriction Source: Ensembl
  3. axial mesoderm morphogenesis Source: Ensembl
  4. cellular response to transforming growth factor beta stimulus Source: Ensembl
  5. ectoderm development Source: Ensembl
  6. embryonic foregut morphogenesis Source: Ensembl
  7. endoderm development Source: Ensembl
  8. epithelial to mesenchymal transition Source: Ensembl
  9. in utero embryonic development Source: Ensembl
  10. left/right axis specification Source: Ensembl
  11. mesoderm migration involved in gastrulation Source: Ensembl
  12. negative regulation of cell-cell adhesion Source: Ensembl
  13. negative regulation of protein binding Source: Ensembl
  14. neural plate morphogenesis Source: Ensembl
  15. paraxial mesoderm development Source: Ensembl
  16. positive regulation of epithelial cell migration Source: Ensembl
  17. positive regulation of epithelial to mesenchymal transition Source: Ensembl
  18. positive regulation of focal adhesion assembly Source: Ensembl
  19. positive regulation of protein binding Source: Ensembl
  20. posttranscriptional regulation of gene expression Source: Ensembl
  21. regulation of establishment of protein localization Source: Ensembl
  22. somite rostral/caudal axis specification Source: Ensembl
  23. substrate-dependent cell migration, cell attachment to substrate Source: Ensembl
  24. unidimensional cell growth Source: Ensembl
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Band 4.1-like protein 5
Gene namesi
Name:EPB41L5
Synonyms:KIAA1548
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:19819. EPB41L5.

Subcellular locationi

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

GO - Cellular componenti

  1. cytoplasm Source: HPA
  2. cytoskeleton Source: InterPro
  3. extrinsic component of membrane Source: InterPro
  4. focal adhesion Source: Ensembl
  5. nucleus Source: HPA
  6. plasma membrane Source: HPA
  7. ruffle membrane Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cytoplasm

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134862834.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 733733Band 4.1-like protein 5PRO_0000219406Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei436 – 4361Phosphoserine1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ9HCM4.
PaxDbiQ9HCM4.
PRIDEiQ9HCM4.

PTM databases

PhosphoSiteiQ9HCM4.

Expressioni

Gene expression databases

ArrayExpressiQ9HCM4.
BgeeiQ9HCM4.
CleanExiHS_EPB41L5.
GenevestigatoriQ9HCM4.

Organism-specific databases

HPAiHPA037563.
HPA037564.

Interactioni

Subunit structurei

Interacts with MPP5, CRB2 and CRB3.1 Publication

Protein-protein interaction databases

BioGridi121701. 6 interactions.
IntActiQ9HCM4. 4 interactions.
MINTiMINT-5005367.
STRINGi9606.ENSP00000263713.

Structurei

3D structure databases

ProteinModelPortaliQ9HCM4.
SMRiQ9HCM4. Positions 45-324.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini43 – 327285FERMAdd
BLAST

Domaini

The FERM domain binds to CRB1.

Sequence similaritiesi

Contains 1 FERM domain.

Phylogenomic databases

eggNOGiNOG269561.
HOGENOMiHOG000231632.
HOVERGENiHBG051434.
InParanoidiQ9HCM4.
OMAiLEATIGD.
OrthoDBiEOG73FQM2.
PhylomeDBiQ9HCM4.
TreeFamiTF319780.

Family and domain databases

Gene3Di1.20.80.10. 1 hit.
2.30.29.30. 1 hit.
InterProiIPR019749. 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]
PfamiPF08736. FA. 1 hit.
PF09380. FERM_C. 1 hit.
PF00373. FERM_M. 1 hit.
PF09379. FERM_N. 1 hit.
[Graphical view]
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: Q9HCM4-1) [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

MLSFFRRTLG RRSMRKHAEK ERLREAQRAA THIPAAGDSK SIITCRVSLL    50
DGTDVSVDLP KKAKGQELFD QIMYHLDLIE SDYFGLRFMD SAQVAHWLDG 100
TKSIKKQVKI GSPYCLHLRV KFYSSEPNNL REELTRYLFV LQLKQDILSG 150
KLDCPFDTAV QLAAYNLQAE LGDYDLAEHS PELVSEFRFV PIQTEEMELA 200
IFEKWKEYRG QTPAQAETNY LNKAKWLEMY GVDMHVVKAR DGNDYSLGLT 250
PTGVLVFEGD TKIGLFFWPK ITRLDFKKNK LTLVVVEDDD QGKEQEHTFV 300
FRLDHPKACK HLWKCAVEHH AFFRLRGPVQ KSSHRSGFIR LGSRFRYSGK 350
TEYQTTKTNK ARRSTSFERR PSKRYSRRTL QMKACATKPE ELSVHNNVST 400
QSNGSQQAWG MRSALPVSPS ISSAPVPVEI ENLPQSPGTD QHDRKCIPLN 450
IDLLNSPDLL EATIGDVIGA SDTMETSQAL NDVNVATRLP GLGEPEVEYE 500
TLKDTSEKLK QLEMENSPLL SPRSNIDVNI NSQEEVVKLT EKCLNNVIES 550
PGLNVMRVPP DFKSNILKAQ VEAVHKVTKE DSLLSHKNAN VQDAATNSAV 600
LNENNVPLPK ESLETLMLIT PADSGSVLKE ATDELDALLA SLTENLIDHT 650
VAPQVSSTSM ITPRWIVPQS GAMSNGLAGC EMLLTGKEGH GNKDGISLIS 700
PPAPFLVDAV TSSGPILAEE AVLKQKCLLT TEL 733
Length:733
Mass (Da):81,856
Last modified:April 29, 2008 - v3
Checksum:iA3712B5927C9C199
GO
Isoform 2 (identifier: Q9HCM4-2) [UniParc]FASTAAdd to Basket

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

Show »
Length:505
Mass (Da):57,886
Checksum:iD481C3DD2A16B630
GO
Isoform 3 (identifier: Q9HCM4-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     668-669: PQ → P

Note: No experimental confirmation available.

Show »
Length:732
Mass (Da):81,728
Checksum:i1DA5B2DC1599E331
GO
Isoform 4 (identifier: Q9HCM4-4) [UniParc]FASTAAdd to Basket

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

Show »
Length:687
Mass (Da):77,520
Checksum:iC91D55CAC3D5C19D
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti334 – 3341H → Y.
Corresponds to variant rs28930677 [ dbSNP | Ensembl ].
VAR_048357
Natural varianti462 – 4621A → T.2 Publications
Corresponds to variant rs1034489 [ dbSNP | Ensembl ].
VAR_042699

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei446 – 50560CIPLN…TLKDT → WLSAASDCCQRGGNQWNTRA LPPPQTAHRNYTDFVHEHNV KNAGIRHDVHFPGHTAMTEI in isoform 2. VSP_033034Add
BLAST
Alternative sequencei506 – 733228Missing in isoform 2. VSP_033035Add
BLAST
Alternative sequencei668 – 6692PQ → P in isoform 3. VSP_033036
Alternative sequencei669 – 68719QSGAM…LLTGK → LWSHFGRRSCPEAEVFTDH in isoform 4. VSP_033037Add
BLAST
Alternative sequencei688 – 73346Missing in isoform 4. VSP_033038Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS2130.1. [Q9HCM4-1]
CCDS54392.1. [Q9HCM4-2]
CCDS54393.1. [Q9HCM4-4]
RefSeqiNP_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]
UniGeneiHs.369232.

Genome annotation databases

EnsembliENST00000263713; ENSP00000263713; ENSG00000115109. [Q9HCM4-1]
ENST00000331393; ENSP00000329687; ENSG00000115109. [Q9HCM4-2]
ENST00000443124; ENSP00000393722; ENSG00000115109. [Q9HCM4-2]
ENST00000443902; ENSP00000393856; ENSG00000115109. [Q9HCM4-4]
ENST00000452780; ENSP00000390439; ENSG00000115109. [Q9HCM4-3]
GeneIDi57669.
KEGGihsa:57669.
UCSCiuc002tmg.3. human. [Q9HCM4-1]
uc002tmh.4. human. [Q9HCM4-2]
uc010fll.3. human. [Q9HCM4-4]
uc010flm.3. human. [Q9HCM4-3]

Polymorphism databases

DMDMi187608883.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS2130.1. [Q9HCM4-1 ]
CCDS54392.1. [Q9HCM4-2 ]
CCDS54393.1. [Q9HCM4-4 ]
RefSeqi NP_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 ]
UniGenei Hs.369232.

3D structure databases

ProteinModelPortali Q9HCM4.
SMRi Q9HCM4. Positions 45-324.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 121701. 6 interactions.
IntActi Q9HCM4. 4 interactions.
MINTi MINT-5005367.
STRINGi 9606.ENSP00000263713.

PTM databases

PhosphoSitei Q9HCM4.

Polymorphism databases

DMDMi 187608883.

Proteomic databases

MaxQBi Q9HCM4.
PaxDbi Q9HCM4.
PRIDEi Q9HCM4.

Protocols and materials databases

DNASUi 57669.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000263713 ; ENSP00000263713 ; ENSG00000115109 . [Q9HCM4-1 ]
ENST00000331393 ; ENSP00000329687 ; ENSG00000115109 . [Q9HCM4-2 ]
ENST00000443124 ; ENSP00000393722 ; ENSG00000115109 . [Q9HCM4-2 ]
ENST00000443902 ; ENSP00000393856 ; ENSG00000115109 . [Q9HCM4-4 ]
ENST00000452780 ; ENSP00000390439 ; ENSG00000115109 . [Q9HCM4-3 ]
GeneIDi 57669.
KEGGi hsa:57669.
UCSCi uc002tmg.3. human. [Q9HCM4-1 ]
uc002tmh.4. human. [Q9HCM4-2 ]
uc010fll.3. human. [Q9HCM4-4 ]
uc010flm.3. human. [Q9HCM4-3 ]

Organism-specific databases

CTDi 57669.
GeneCardsi GC02P120865.
HGNCi HGNC:19819. EPB41L5.
HPAi HPA037563.
HPA037564.
MIMi 611730. gene.
neXtProti NX_Q9HCM4.
PharmGKBi PA134862834.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG269561.
HOGENOMi HOG000231632.
HOVERGENi HBG051434.
InParanoidi Q9HCM4.
OMAi LEATIGD.
OrthoDBi EOG73FQM2.
PhylomeDBi Q9HCM4.
TreeFami TF319780.

Miscellaneous databases

ChiTaRSi EPB41L5. human.
GeneWikii EPB41L5.
GenomeRNAii 57669.
NextBioi 64455.
PROi Q9HCM4.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9HCM4.
Bgeei Q9HCM4.
CleanExi HS_EPB41L5.
Genevestigatori Q9HCM4.

Family and domain databases

Gene3Di 1.20.80.10. 1 hit.
2.30.29.30. 1 hit.
InterProi IPR019749. 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 ]
Pfami PF08736. FA. 1 hit.
PF09380. FERM_C. 1 hit.
PF00373. FERM_M. 1 hit.
PF09379. FERM_N. 1 hit.
[Graphical view ]
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. "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] (ISOFORMS 2 AND 4), VARIANT THR-462.
  2. 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. Cited for: FUNCTION, INTERACTION WITH MPP5; CRB2 AND CRB3.
  6. 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].

Entry informationi

Entry nameiE41L5_HUMAN
AccessioniPrimary (citable) accession number: Q9HCM4
Secondary accession number(s): Q7Z5S1, Q8IZ12, Q9H975
Entry historyi
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 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 2
    Human chromosome 2: 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

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