Q9Y2J2 (E41L3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Band 4.1-like protein 3

Alternative name(s):
4.1B
Differentially expressed in adenocarcinoma of the lung protein 1
Short name=DAL-1

Gene names

Name:	EPB41L3
Synonyms:	DAL1, KIAA0987

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1087 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Critical growth regulator in the pathogenesis of meningiomas.
Subunit structure	Interacts with CADM1. Ref.4
Subcellular location	Cytoplasm › cytoskeleton By similarity.
Tissue specificity	Expressed at high levels in brain, with lower levels in kidney, intestine, and testis.
Sequence similarities	Contains 1 FERM domain.
Sequence caution	The sequence AAC79806.1 differs from that shown. Reason: Frameshift at positions 29 and 59. The sequence BAA76831.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Cellular component	Cytoplasm Cytoskeleton
Coding sequence diversity	Alternative splicing Polymorphism
Ligand	Actin-binding
PTM	Phosphoprotein
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cortical actin cytoskeleton organization Inferred from electronic annotation. Source: InterPro cortical cytoskeleton organization Traceable author statement PubMed 21966409. Source: BHF-UCL cytoskeletal anchoring at plasma membrane Traceable author statement PubMed 21966409. Source: BHF-UCL myelin maintenance Inferred from sequence or structural similarity. Source: BHF-UCL neuron projection morphogenesis Inferred from sequence or structural similarity. Source: BHF-UCL paranodal junction assembly Inferred from sequence or structural similarity. Source: BHF-UCL protein localization to juxtaparanode region of axon Inferred from sequence or structural similarity. Source: BHF-UCL protein localization to paranode region of axon Inferred from sequence or structural similarity. Source: BHF-UCL protein localization to plasma membrane Inferred from sequence or structural similarity. Source: BHF-UCL regulation of cell shape Inferred from sequence or structural similarity. Source: BHF-UCL
Cellular_component	cell-cell junction Inferred from direct assay Ref.4. Source: HGNC cytoplasm Inferred from electronic annotation. Source: UniProtKB-KW cytoskeleton Inferred from electronic annotation. Source: UniProtKB-SubCell extrinsic to membrane Inferred from electronic annotation. Source: InterPro juxtaparanode region of axon Inferred from sequence or structural similarity. Source: BHF-UCL paranode region of axon Inferred from sequence or structural similarity. Source: BHF-UCL plasma membrane Non-traceable author statement Ref.1. Source: UniProtKB
Molecular_function	structural constituent of cytoskeleton Traceable author statement PubMed 21966409. Source: BHF-UCL
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Note: Additional isoforms seem to exist.

Isoform A (identifier: Q9Y2J2-1)

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 B (identifier: Q9Y2J2-2)

The sequence of this isoform differs from the canonical sequence as follows:
     446-446: G → GASVNENHEIYMKDSMSAA
     503-689: Missing.
     708-719: Missing.
     784-824: Missing.

Isoform C (identifier: Q9Y2J2-3)

The sequence of this isoform differs from the canonical sequence as follows:
     446-446: G → GASVNENHEIYMKDSMSAA
     503-689: Missing.
     708-719: Missing.
     784-824: Missing.
     835-1087: Missing.

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 1087

1087

Band 4.1-like protein 3

PRO_0000219399

Regions

Domain

110 – 391

282

FERM

Region

394 – 513

120

Hydrophilic

Region

514 – 860

347

Spectrin--actin-binding Potential

Region

861 – 1083

223

C-terminal (CTD)

Amino acid modifications

Modified residue

88

1

Phosphoserine Ref.8

Modified residue

420

1

Phosphoserine By similarity

Modified residue

443

1

Phosphoserine By similarity

Modified residue

460

1

Phosphoserine Ref.8

Modified residue

462

1

Phosphothreonine By similarity

Modified residue

469

1

Phosphothreonine Ref.8

Modified residue

703

1

Phosphothreonine By similarity

Modified residue

708

1

Phosphoserine By similarity

Modified residue

760

1

Phosphoserine By similarity

Modified residue

784

1

Phosphothreonine By similarity

Modified residue

787

1

Phosphoserine By similarity

Modified residue

788

1

Phosphoserine By similarity

Modified residue

962

1

Phosphoserine Ref.5

Modified residue

1081

1

Phosphothreonine By similarity

Natural variations

Alternative sequence

446

1

G → GASVNENHEIYMKDSMSAA in isoform B and isoform C.

VSP_000482

Alternative sequence

503 – 689

187

Missing in isoform B and isoform C.

VSP_000483

Alternative sequence

708 – 719

12

Missing in isoform B and isoform C.

VSP_000484

Alternative sequence

784 – 824

41

Missing in isoform B and isoform C.

VSP_000485

Alternative sequence

835 – 1087

253

Missing in isoform C.

VSP_000486

Natural variant

555

1

A → T.
Corresponds to variant rs9966357 [ dbSNP | Ensembl ].

VAR_048353

Natural variant

575

1

Y → C.
Corresponds to variant rs8082898 [ dbSNP | Ensembl ].

VAR_048354

Natural variant

859

1

E → Q.
Corresponds to variant rs8096452 [ dbSNP | Ensembl ].

VAR_048355

Experimental info

Sequence conflict

32

1

Missing in AAC79806. Ref.1

Sequence conflict

498

1

R → Q in AAC79806. Ref.1

Secondary structure

1

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1087

Helix Strand Turn

Details...

Beta strand

109 – 115

7

Beta strand

121 – 127

7

Helix

132 – 142

11

Helix

148 – 150

3

Beta strand

151 – 156

6

Beta strand

162 – 164

3

Helix

171 – 174

4

Beta strand

180 – 188

9

Helix

193 – 195

3

Helix

199 – 214

16

Helix

222 – 237

16

Turn

242 – 244

3

Turn

247 – 252

6

Beta strand

256 – 258

3

Helix

261 – 273

13

Turn

274 – 276

3

Helix

279 – 290

12

Turn

294 – 297

4

Beta strand

299 – 304

6

Beta strand

310 – 315

6

Beta strand

317 – 324

8

Beta strand

327 – 333

7

Helix

334 – 336

3

Beta strand

339 – 343

5

Beta strand

346 – 351

6

Turn

354 – 357

4

Beta strand

361 – 366

6

Helix

370 – 388

19

Sequences

	Sequence		Length	Mass (Da)
	Isoform A [UniParc]. Last modified December 5, 2001. Version 2. Checksum: 0A33CA4A43F12620	FASTA	1,087	120,678
	10 20 30 40 50 60 MTTESGSDSE SKPDQEAEPQ EAAGAQGRAG APVPEPPKEE QQQALEQFAA AAAHSTPVRR 70 80 90 100 110 120 EVTDKEQEFA ARAAKQLEYQ QLEDDKLSQK SSSSKLSRSP LKIVKKPKSM QCKVILLDGS 130 140 150 160 170 180 EYTCDVEKRS RGQVLFDKVC EHLNLLEKDY FGLTYRDAEN QKNWLDPAKE IKKQVRSGAW 190 200 210 220 230 240 HFSFNVKFYP PDPAQLSEDI TRYYLCLQLR DDIVSGRLPC SFVTLALLGS YTVQSELGDY 250 260 270 280 290 300 DPDECGSDYI SEFRFAPNHT KELEDKVIEL HKSHRGMTPA EAEMHFLENA KKLSMYGVDL 310 320 330 340 350 360 HHAKDSEGVE IMLGVCASGL LIYRDRLRIN RFAWPKVLKI SYKRNNFYIK IRPGEFEQFE 370 380 390 400 410 420 STIGFKLPNH RAAKRLWKVC VEHHTFFRLL LPEAPPKKFL TLGSKFRYSG RTQAQTRRAS 430 440 450 460 470 480 ALIDRPAPYF ERSSSKRYTM SRSLDGEVGT GQYATTKGIS QTNLITTVTP EKKAEEERDE 490 500 510 520 530 540 EEDKRRKGEE VTPISAIRHE GKSPGLGTDS CPLSPPSTHC APTSPTELRR RCKENDCKLP 550 560 570 580 590 600 GYEPSRAEHL PGEPALDSDG PGRPYLGDQD VAFSYRQQTG KGTTLFSFSL QLPESFPSLL 610 620 630 640 650 660 DDDGYLSFPN LSETNLLPQS LQHYLPIRSP SLVPCFLFIF FFLLSASFSV PYALTLSFPL 670 680 690 700 710 720 ALCLCYLEPK AASLSASLDN DPSDSSEEET DSERTDTAAD GETTATESDQ EEDAELKAQE 730 740 750 760 770 780 LEKTQDDLMK HQTNISELKR TFLETSTDTA VTNEWEKRLS TSPVRLAARQ EDAPMIEPLV 790 800 810 820 830 840 PEETKQSSGE KLMDGSEIFS LLESARKPTE FIGGVTSTSQ SWVQKMETKT ESSGIETEPT 850 860 870 880 890 900 VHHLPLSTEK VVQETVLVEE RRVVHASGDA SYSAGDSGDA AAQPAFTGIK GKEGSALTEG 910 920 930 940 950 960 AKEEGGEEVA KAVLEQEETA AASRERQEEQ SAAIHISETL EQKPHFESST VKTETISFGS 970 980 990 1000 1010 1020 VSPGGVKLEI STKEVPVVHT ETKTITYESS QVDPGTDLEP GVLMSAQTIT SETTSTTTTT 1030 1040 1050 1060 1070 1080 HITKTVKGGI SETRIEKRIV ITGDADIDHD QALAQAIKEA KEQHPDMSVT KVVVHKETEI TPEDGED
	Isoform B [UniParc]. Checksum: C2070B01BF7F9422	FASTA	865	96,514
	10 20 30 40 50 60 MTTESGSDSE SKPDQEAEPQ EAAGAQGRAG APVPEPPKEE QQQALEQFAA AAAHSTPVRR 70 80 90 100 110 120 EVTDKEQEFA ARAAKQLEYQ QLEDDKLSQK SSSSKLSRSP LKIVKKPKSM QCKVILLDGS 130 140 150 160 170 180 EYTCDVEKRS RGQVLFDKVC EHLNLLEKDY FGLTYRDAEN QKNWLDPAKE IKKQVRSGAW 190 200 210 220 230 240 HFSFNVKFYP PDPAQLSEDI TRYYLCLQLR DDIVSGRLPC SFVTLALLGS YTVQSELGDY 250 260 270 280 290 300 DPDECGSDYI SEFRFAPNHT KELEDKVIEL HKSHRGMTPA EAEMHFLENA KKLSMYGVDL 310 320 330 340 350 360 HHAKDSEGVE IMLGVCASGL LIYRDRLRIN RFAWPKVLKI SYKRNNFYIK IRPGEFEQFE 370 380 390 400 410 420 STIGFKLPNH RAAKRLWKVC VEHHTFFRLL LPEAPPKKFL TLGSKFRYSG RTQAQTRRAS 430 440 450 460 470 480 ALIDRPAPYF ERSSSKRYTM SRSLDGASVN ENHEIYMKDS MSAAEVGTGQ YATTKGISQT 490 500 510 520 530 540 NLITTVTPEK KAEEERDEEE DKRRKGEEVT PISAIRHEGK TDSERTDTAA DGETTATEEL 550 560 570 580 590 600 EKTQDDLMKH QTNISELKRT FLETSTDTAV TNEWEKRLST SPVRLAARQE DAPMIEPLVP 610 620 630 640 650 660 EEKMETKTES SGIETEPTVH HLPLSTEKVV QETVLVEERR VVHASGDASY SAGDSGDAAA 670 680 690 700 710 720 QPAFTGIKGK EGSALTEGAK EEGGEEVAKA VLEQEETAAA SRERQEEQSA AIHISETLEQ 730 740 750 760 770 780 KPHFESSTVK TETISFGSVS PGGVKLEIST KEVPVVHTET KTITYESSQV DPGTDLEPGV 790 800 810 820 830 840 LMSAQTITSE TTSTTTTTHI TKTVKGGISE TRIEKRIVIT GDADIDHDQA LAQAIKEAKE 850 860 QHPDMSVTKV VVHKETEITP EDGED
	Isoform C [UniParc]. Checksum: 3881FB17E0DBAD00	FASTA	612	69,521
	10 20 30 40 50 60 MTTESGSDSE SKPDQEAEPQ EAAGAQGRAG APVPEPPKEE QQQALEQFAA AAAHSTPVRR 70 80 90 100 110 120 EVTDKEQEFA ARAAKQLEYQ QLEDDKLSQK SSSSKLSRSP LKIVKKPKSM QCKVILLDGS 130 140 150 160 170 180 EYTCDVEKRS RGQVLFDKVC EHLNLLEKDY FGLTYRDAEN QKNWLDPAKE IKKQVRSGAW 190 200 210 220 230 240 HFSFNVKFYP PDPAQLSEDI TRYYLCLQLR DDIVSGRLPC SFVTLALLGS YTVQSELGDY 250 260 270 280 290 300 DPDECGSDYI SEFRFAPNHT KELEDKVIEL HKSHRGMTPA EAEMHFLENA KKLSMYGVDL 310 320 330 340 350 360 HHAKDSEGVE IMLGVCASGL LIYRDRLRIN RFAWPKVLKI SYKRNNFYIK IRPGEFEQFE 370 380 390 400 410 420 STIGFKLPNH RAAKRLWKVC VEHHTFFRLL LPEAPPKKFL TLGSKFRYSG RTQAQTRRAS 430 440 450 460 470 480 ALIDRPAPYF ERSSSKRYTM SRSLDGASVN ENHEIYMKDS MSAAEVGTGQ YATTKGISQT 490 500 510 520 530 540 NLITTVTPEK KAEEERDEEE DKRRKGEEVT PISAIRHEGK TDSERTDTAA DGETTATEEL 550 560 570 580 590 600 EKTQDDLMKH QTNISELKRT FLETSTDTAV TNEWEKRLST SPVRLAARQE DAPMIEPLVP 610 EEKMETKTES SG

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"A novel member of the NF2/ERM/4.1 superfamily with growth suppressing properties in lung cancer." Tran Y.K., Boegler O., Gorse K.M., Wieland I., Green M.R., Newsham I.F. Cancer Res. 59:35-43(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM C). Tissue: Lung.
[2]	"Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 6:63-70(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM A). Tissue: Brain.
[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] (ISOFORM B). Tissue: Lung.
[4]	"Direct association of TSLC1 and DAL-1, two distinct tumor suppressor proteins in lung cancer." Yageta M., Kuramochi M., Masuda M., Fukami T., Fukuhara H., Maruyama T., Shibuya M., Murakami Y. Cancer Res. 62:5129-5133(2002) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH CADM1.
[5]	"A probability-based approach for high-throughput protein phosphorylation analysis and site localization." Beausoleil S.A., Villen J., Gerber S.A., Rush J., Gygi S.P. Nat. Biotechnol. 24:1285-1292(2006) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-962, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[6]	"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: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Cervix carcinoma.
[7]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[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: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-88; SER-460 AND THR-469, MASS SPECTROMETRY.
[9]	"Ferm domain of EPB41L3 (DAL-1)." Structural genomics consortium (SGC) Submitted (JUL-2006) to the PDB data bank Cited for: X-RAY CRYSTALLOGRAPHY (2.0 ANGSTROMS) OF 108-390.
+	Additional computationally mapped references.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

AF069072 mRNA. Translation: AAC79806.1. Frameshift.
AB023204 mRNA. Translation: BAA76831.1. Different initiation.
BC006141 mRNA. Translation: AAH06141.1.

IPI

IPI00032230.
IPI00215716.
IPI00215717.

RefSeq

NP_036439.2. NM_012307.2.

UniGene

Hs.213394.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2HE7	X-ray	2.00	A	108-390	[»]
3BIN	X-ray	2.30	A	109-390	[»]

ProteinModelPortal

Q9Y2J2.

ModBase

Search...

Protein-protein interaction databases

DIP

DIP-17035N.

IntAct

Q9Y2J2. 17 interactions.

MINT

MINT-1630957.

STRING

9606.ENSP00000341138.

PTM databases

PhosphoSite

Q9Y2J2.

Polymorphism databases

DMDM

17433099.

Proteomic databases

PaxDb

Q9Y2J2.

PRIDE

Q9Y2J2.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000341928; ENSP00000343158; ENSG00000082397.
ENST00000342933; ENSP00000341138; ENSG00000082397.
ENST00000400111; ENSP00000382981; ENSG00000082397.
ENST00000540638; ENSP00000442091; ENSG00000082397.

GeneID

23136.

KEGG

hsa:23136.

UCSC

uc002kmt.1. human.
uc002kmu.1. human.
uc010dks.1. human.

Organism-specific databases

CTD

23136.

GeneCards

GC18M005382.

HGNC

HGNC:3380. EPB41L3.

HPA

HPA028605.

MIM

605331. gene.

neXtProt

NX_Q9Y2J2.

PharmGKB

PA27813.

HUGE

Search...

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG242913.

HOGENOM

HOG000228840.

HOVERGEN

HBG007777.

InParanoid

Q9Y2J2.

KO

K06107.

OMA

AITNEWE.

OrthoDB

EOG4Z8XVQ.

PhylomeDB

Q9Y2J2.

Gene expression databases

ArrayExpress

Q9Y2J2.

Bgee

Q9Y2J2.

CleanEx

HS_EPB41L3.

Genevestigator

Q9Y2J2.

GermOnline

ENSG00000082397. Homo sapiens.

Family and domain databases

Gene3D

1.20.80.10. 1 hit.
2.30.29.30. 1 hit.

InterPro

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.
[Graphical view]

Pfam

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]

PIRSF

PIRSF002304. Membrane_skeletal_4_1. 1 hit.

PRINTS

PR00935. BAND41.
PR00661. ERMFAMILY.

SMART

SM00295. B41. 1 hit.
[Graphical view]

SUPFAM

SSF47031. FERM_3-hlx. 1 hit.

PROSITE

PS00660. FERM_1. 1 hit.
PS00661. FERM_2. 1 hit.
PS50057. FERM_3. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

EvolutionaryTrace

Q9Y2J2.

GenomeRNAi

23136.

NextBio

44399.

SOURCE

Search...

Entry information

Entry name

E41L3_HUMAN

Accession

Primary (citable) accession number: Q9Y2J2
Secondary accession number(s): O95713, Q9BRP5

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 5, 2001
Last sequence update:	December 5, 2001
Last modified:	May 1, 2013
This is version 122 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.