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Protein

Band 4.1-like protein 5

Gene

EPB41L5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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 - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

ReactomeiR-HSA-6794361. Interactions of neurexins and neuroligins at synapses.

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
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:19819. EPB41L5.

Subcellular locationi

GO - Cellular componenti

Keywords - Cellular componenti

Cell junction, Cytoplasm

Pathology & Biotechi

Organism-specific databases

DisGeNETi57669.
OpenTargetsiENSG00000115109.
PharmGKBiPA134862834.

Polymorphism and mutation databases

BioMutaiEPB41L5.
DMDMi187608883.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002194061 – 733Band 4.1-like protein 5Add BLAST733

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei39PhosphoserineCombined sources1
Modified residuei436PhosphoserineCombined sources1
Modified residuei517PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9HCM4.
MaxQBiQ9HCM4.
PaxDbiQ9HCM4.
PeptideAtlasiQ9HCM4.
PRIDEiQ9HCM4.

PTM databases

iPTMnetiQ9HCM4.
PhosphoSitePlusiQ9HCM4.

Expressioni

Gene expression databases

BgeeiENSG00000115109.
CleanExiHS_EPB41L5.
GenevisibleiQ9HCM4. HS.

Organism-specific databases

HPAiHPA037563.
HPA037564.

Interactioni

Subunit structurei

Interacts with MPP5, CRB2 and CRB3.1 Publication

GO - Molecular functioni

Protein-protein interaction databases

BioGridi121701. 67 interactors.
IntActiQ9HCM4. 23 interactors.
MINTiMINT-5005367.
STRINGi9606.ENSP00000263713.

Structurei

3D structure databases

ProteinModelPortaliQ9HCM4.
SMRiQ9HCM4.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini43 – 327FERMPROSITE-ProRule annotationAdd BLAST285

Domaini

The FERM domain binds to CRB1.

Phylogenomic databases

eggNOGiENOG410IQ60. Eukaryota.
ENOG410XRFC. LUCA.
GeneTreeiENSGT00760000118823.
HOGENOMiHOG000231632.
HOVERGENiHBG051434.
InParanoidiQ9HCM4.
OMAiFVHEHNV.
OrthoDBiEOG091G032O.
PhylomeDBiQ9HCM4.
TreeFamiTF319780.

Family and domain databases

CDDicd14473. FERM_B-lobe. 1 hit.
Gene3Di1.20.80.10. 1 hit.
2.30.29.30. 1 hit.
InterProiView protein in InterPro
IPR030694. Band4.1-like5.
IPR019749. Band_41_domain.
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_dom-like.
IPR029071. Ubiquitin-rel_dom.
PANTHERiPTHR23280:SF40. PTHR23280:SF40. 1 hit.
PfamiView protein in Pfam
PF08736. FA. 1 hit.
PF09380. FERM_C. 1 hit.
PF00373. FERM_M. 1 hit.
PF09379. FERM_N. 1 hit.
PRINTSiPR00935. BAND41.
PR00661. ERMFAMILY.
SMARTiView protein in SMART
SM00295. B41. 1 hit.
SM01195. FA. 1 hit.
SM01196. FERM_C. 1 hit.
SUPFAMiSSF47031. SSF47031. 1 hit.
SSF50729. SSF50729. 1 hit.
SSF54236. SSF54236. 1 hit.
PROSITEiView protein in PROSITE
PS00660. FERM_1. 1 hit.
PS00661. FERM_2. 1 hit.
PS50057. FERM_3. 1 hit.

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

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

        10         20         30         40         50
MLSFFRRTLG RRSMRKHAEK ERLREAQRAA THIPAAGDSK SIITCRVSLL
60 70 80 90 100
DGTDVSVDLP KKAKGQELFD QIMYHLDLIE SDYFGLRFMD SAQVAHWLDG
110 120 130 140 150
TKSIKKQVKI GSPYCLHLRV KFYSSEPNNL REELTRYLFV LQLKQDILSG
160 170 180 190 200
KLDCPFDTAV QLAAYNLQAE LGDYDLAEHS PELVSEFRFV PIQTEEMELA
210 220 230 240 250
IFEKWKEYRG QTPAQAETNY LNKAKWLEMY GVDMHVVKAR DGNDYSLGLT
260 270 280 290 300
PTGVLVFEGD TKIGLFFWPK ITRLDFKKNK LTLVVVEDDD QGKEQEHTFV
310 320 330 340 350
FRLDHPKACK HLWKCAVEHH AFFRLRGPVQ KSSHRSGFIR LGSRFRYSGK
360 370 380 390 400
TEYQTTKTNK ARRSTSFERR PSKRYSRRTL QMKACATKPE ELSVHNNVST
410 420 430 440 450
QSNGSQQAWG MRSALPVSPS ISSAPVPVEI ENLPQSPGTD QHDRKCIPLN
460 470 480 490 500
IDLLNSPDLL EATIGDVIGA SDTMETSQAL NDVNVATRLP GLGEPEVEYE
510 520 530 540 550
TLKDTSEKLK QLEMENSPLL SPRSNIDVNI NSQEEVVKLT EKCLNNVIES
560 570 580 590 600
PGLNVMRVPP DFKSNILKAQ VEAVHKVTKE DSLLSHKNAN VQDAATNSAV
610 620 630 640 650
LNENNVPLPK ESLETLMLIT PADSGSVLKE ATDELDALLA SLTENLIDHT
660 670 680 690 700
VAPQVSSTSM ITPRWIVPQS GAMSNGLAGC EMLLTGKEGH GNKDGISLIS
710 720 730
PPAPFLVDAV TSSGPILAEE AVLKQKCLLT TEL
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)DescriptionActionsGraphical viewLength
Natural variantiVAR_048357334H → Y. Corresponds to variant dbSNP:rs28930677Ensembl.1
Natural variantiVAR_042699462A → T2 PublicationsCorresponds to variant dbSNP:rs1034489Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_033034446 – 505CIPLN…TLKDT → WLSAASDCCQRGGNQWNTRA LPPPQTAHRNYTDFVHEHNV KNAGIRHDVHFPGHTAMTEI in isoform 2. 2 PublicationsAdd BLAST60
Alternative sequenceiVSP_033035506 – 733Missing in isoform 2. 2 PublicationsAdd BLAST228
Alternative sequenceiVSP_033036668 – 669PQ → P in isoform 3. 1 Publication2
Alternative sequenceiVSP_033037669 – 687QSGAM…LLTGK → LWSHFGRRSCPEAEVFTDH in isoform 4. 1 PublicationAdd BLAST19
Alternative sequenceiVSP_033038688 – 733Missing in isoform 4. 1 PublicationAdd BLAST46

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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]
CCDS82506.1. [Q9HCM4-3]
RefSeqiNP_001171866.1. NM_001184937.1. [Q9HCM4-4]
NP_001171867.1. NM_001184938.3. [Q9HCM4-2]
NP_001171868.1. NM_001184939.2. [Q9HCM4-2]
NP_001317239.1. NM_001330310.1. [Q9HCM4-3]
NP_065960.2. NM_020909.3. [Q9HCM4-1]
UniGeneiHs.369232.
Hs.733250.

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.4. human. [Q9HCM4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiE41L5_HUMAN
AccessioniPrimary (citable) accession number: Q9HCM4
Secondary accession number(s): Q7Z5S1, Q8IZ12, Q9H975
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 11, 2001
Last sequence update: April 29, 2008
Last modified: August 30, 2017
This is version 138 of the entry and version 3 of the sequence. See 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