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Protein

Protein 4.1

Gene

EPB41

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

Functioni

Protein 4.1 is a major structural element of the erythrocyte membrane skeleton. It plays a key role in regulating membrane physical properties of mechanical stability and deformability by stabilizing spectrin-actin interaction. Recruits DLG1 to membranes.

GO - Molecular functioni

  • 1-phosphatidylinositol binding Source: UniProtKB
  • spectrin binding Source: BHF-UCL
  • structural constituent of cytoskeleton Source: ProtInc

GO - Biological processi

  • actin cytoskeleton organization Source: UniProtKB
  • actomyosin structure organization Source: GO_Central
  • blood circulation Source: ProtInc
  • cortical actin cytoskeleton organization Source: InterPro
  • positive regulation of protein binding Source: BHF-UCL
Complete GO annotation...

Keywords - Ligandi

Actin-binding, Calmodulin-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000159023-MONOMER.
ReactomeiR-HSA-6794361. Interactions of neurexins and neuroligins at synapses.
SIGNORiP11171.

Protein family/group databases

TCDBi8.A.25.1.2. the ezrin/radixin/moesin (ezrin) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Protein 4.1
Short name:
P4.1
Alternative name(s):
4.1R
Band 4.1
EPB4.1
Gene namesi
Name:EPB41
Synonyms:E41P
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:3377. EPB41.

Subcellular locationi

GO - Cellular componenti

  • cell junction Source: HPA
  • cortical cytoskeleton Source: UniProtKB
  • cytoplasm Source: HPA
  • extrinsic component of membrane Source: InterPro
  • nucleus Source: UniProtKB-SubCell
  • plasma membrane Source: HPA
  • protein complex Source: UniProtKB
  • spectrin Source: ProtInc
  • spectrin-associated cytoskeleton Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Nucleus

Pathology & Biotechi

Involvement in diseasei

Elliptocytosis 1 (EL1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA Rhesus-linked form of hereditary elliptocytosis, a genetically heterogeneous, autosomal dominant hematologic disorder. It is characterized by variable hemolytic anemia and elliptical or oval red cell shape.
See also OMIM:611804

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi60T → A: Loss of CDK1-mediated phosphorylation. Abolishes targeting onto the mitotic spindle; when associated with A-712. 1 Publication1
Mutagenesisi712S → A: Loss of CDK1-mediated phosphorylation. Abolishes targeting onto the mitotic spindle; when associated with A-60. 1 Publication1

Keywords - Diseasei

Elliptocytosis, Hereditary hemolytic anemia, Pyropoikilocytosis

Organism-specific databases

DisGeNETi2035.
MalaCardsiEPB41.
MIMi611804. phenotype.
OpenTargetsiENSG00000159023.
Orphaneti288. Hereditary elliptocytosis.
PharmGKBiPA27810.

Polymorphism and mutation databases

BioMutaiEPB41.
DMDMi90101808.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002193901 – 864Protein 4.1Add BLAST864

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei14PhosphoserineCombined sources1
Modified residuei60Phosphothreonine; by CDK1Combined sources1 Publication1
Modified residuei84PhosphoserineCombined sources1
Modified residuei85PhosphoserineCombined sources1
Modified residuei95PhosphoserineCombined sources1
Modified residuei104PhosphoserineCombined sources1
Modified residuei121PhosphoserineBy similarity1
Modified residuei149PhosphoserineCombined sources1
Modified residuei151PhosphoserineCombined sources1
Modified residuei152PhosphoserineCombined sources1
Modified residuei188PhosphoserineCombined sources1
Modified residuei191PhosphoserineCombined sources1
Modified residuei222PhosphotyrosineBy similarity1
Modified residuei378PhosphothreonineCombined sources1
Modified residuei521PhosphoserineCombined sources1
Modified residuei540PhosphoserineCombined sources1 Publication1
Modified residuei542PhosphoserineCombined sources1
Modified residuei555PhosphoserineCombined sources1
Modified residuei660Phosphotyrosine; by EGFRCombined sources1 Publication1
Modified residuei664PhosphoserineBy similarity1
Modified residuei674PhosphoserineCombined sources1
Modified residuei684PhosphoserineCombined sources1
Modified residuei709PhosphoserineCombined sources1 Publication1
Modified residuei712Phosphoserine; by CDK1Combined sources1 Publication1
Modified residuei736PhosphothreonineCombined sources1
Modified residuei859PhosphothreonineCombined sources1

Post-translational modificationi

Phosphorylated at multiple sites by different protein kinases and each phosphorylation event selectively modulates the protein's functions.
Phosphorylation on Tyr-660 reduces the ability of 4.1 to promote the assembly of the spectrin/actin/4.1 ternary complex.1 Publication
O-glycosylated; contains N-acetylglucosamine side chains in the C-terminal domain.

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

EPDiP11171.
MaxQBiP11171.
PaxDbiP11171.
PeptideAtlasiP11171.
PRIDEiP11171.

PTM databases

iPTMnetiP11171.
PhosphoSitePlusiP11171.
UniCarbKBiP11171.

Miscellaneous databases

PMAP-CutDBB1ALH9.

Expressioni

Gene expression databases

BgeeiENSG00000159023.
CleanExiHS_EPB41.
ExpressionAtlasiP11171. baseline and differential.
GenevisibleiP11171. HS.

Organism-specific databases

HPAiHPA028412.
HPA028414.

Interactioni

Subunit structurei

Binds with a high affinity to glycophorin and with lower affinity to band III protein. Associates with the nuclear mitotic apparatus. Binds calmodulin, CENPJ and DLG1. Also found to associate with contractile apparatus and tight junctions.

Binary interactionsi

WithEntry#Exp.IntActNotes
CLNS1AP541053EBI-10197451,EBI-724693
RWDD2BP570603EBI-10197451,EBI-724442
ZCCHC10Q8TBK63EBI-10197451,EBI-597063

GO - Molecular functioni

  • spectrin binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi108349. 32 interactors.
DIPiDIP-17032N.
IntActiP11171. 8 interactors.
MINTiMINT-1208648.
STRINGi9606.ENSP00000345259.

Structurei

Secondary structure

1864
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi211 – 215Combined sources5
Beta strandi221 – 225Combined sources5
Helixi232 – 243Combined sources12
Helixi248 – 250Combined sources3
Beta strandi251 – 258Combined sources8
Beta strandi261 – 264Combined sources4
Helixi271 – 274Combined sources4
Turni275 – 277Combined sources3
Beta strandi281 – 288Combined sources8
Helixi293 – 295Combined sources3
Helixi299 – 314Combined sources16
Helixi322 – 337Combined sources16
Helixi342 – 345Combined sources4
Helixi350 – 352Combined sources3
Beta strandi356 – 358Combined sources3
Helixi361 – 372Combined sources12
Helixi379 – 390Combined sources12
Turni394 – 397Combined sources4
Beta strandi399 – 404Combined sources6
Beta strandi410 – 415Combined sources6
Beta strandi417 – 424Combined sources8
Beta strandi427 – 433Combined sources7
Helixi434 – 436Combined sources3
Beta strandi437 – 443Combined sources7
Beta strandi446 – 451Combined sources6
Beta strandi454 – 458Combined sources5
Beta strandi461 – 466Combined sources6
Helixi470 – 486Combined sources17

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1GG3X-ray2.80A/B/C210-488[»]
2RQ1NMR-A292-396[»]
3QIJX-ray1.80A/B211-488[»]
DisProtiDP00678.
ProteinModelPortaliP11171.
SMRiP11171.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP11171.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini210 – 491FERMPROSITE-ProRule annotationAdd BLAST282

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni494 – 614HydrophilicAdd BLAST121
Regioni615 – 713Spectrin--actin-bindingAdd BLAST99
Regioni714 – 864C-terminal (CTD)Add BLAST151

Sequence similaritiesi

Contains 1 FERM domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiENOG410IU7N. Eukaryota.
ENOG410XS0M. LUCA.
GeneTreeiENSGT00760000118823.
HOVERGENiHBG007777.
InParanoidiP11171.
KOiK06107.
OMAiGQQETQL.
OrthoDBiEOG091G00IL.
PhylomeDBiP11171.
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.
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.
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]
PRINTSiPR00935. BAND41.
PR00661. ERMFAMILY.
SMARTiSM00295. B41. 1 hit.
SM01195. FA. 1 hit.
SM01196. FERM_C. 1 hit.
[Graphical view]
SUPFAMiSSF47031. SSF47031. 1 hit.
SSF50729. SSF50729. 1 hit.
SSF54236. SSF54236. 1 hit.
PROSITEiPS00660. FERM_1. 1 hit.
PS00661. FERM_2. 1 hit.
PS50057. FERM_3. 1 hit.
[Graphical view]

Sequences (7)i

Sequence statusi: Complete.

This entry describes 7 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P11171-1) [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
MTTEKSLVTE AENSQHQQKE EGEEAINSGQ QEPQQEESCQ TAAEGDNWCE
60 70 80 90 100
QKLKASNGDT PTHEDLTKNK ERTSESRGLS RLFSSFLKRP KSQVSEEEGK
110 120 130 140 150
EVESDKEKGE GGQKEIEFGT SLDEEIILKA PIAAPEPELK TDPSLDLHSL
160 170 180 190 200
SSAETQPAQE ELREDPDFEI KEGEGLEECS KIEVKEESPQ SKAETELKAS
210 220 230 240 250
QKPIRKHRNM HCKVSLLDDT VYECVVEKHA KGQDLLKRVC EHLNLLEEDY
260 270 280 290 300
FGLAIWDNAT SKTWLDSAKE IKKQVRGVPW NFTFNVKFYP PDPAQLTEDI
310 320 330 340 350
TRYYLCLQLR QDIVAGRLPC SFATLALLGS YTIQSELGDY DPELHGVDYV
360 370 380 390 400
SDFKLAPNQT KELEEKVMEL HKSYRSMTPA QADLEFLENA KKLSMYGVDL
410 420 430 440 450
HKAKDLEGVD IILGVCSSGL LVYKDKLRIN RFPWPKVLKI SYKRSSFFIK
460 470 480 490 500
IRPGEQEQYE STIGFKLPSY RAAKKLWKVC VEHHTFFRLT STDTIPKSKF
510 520 530 540 550
LALGSKFRYS GRTQAQTRQA SALIDRPAPH FERTASKRAS RSLDGAAAVD
560 570 580 590 600
SADRSPRPTS APAITQGQVA EGGVLDASAK KTVVPKAQKE TVKAEVKKED
610 620 630 640 650
EPPEQAEPEP TEAWKVEKTH IEVTVPTSNG DQTQKLAEKT EDLIRMRKKK
660 670 680 690 700
RERLDGENIY IRHSNLMLED LDKSQEEIKK HHASISELKK NFMESVPEPR
710 720 730 740 750
PSEWDKRLST HSPFRTLNIN GQIPTGEGPP LVKTQTVTIS DNANAVKSEI
760 770 780 790 800
PTKDVPIVHT ETKTITYEAA QTDDNSGDLD PGVLLTAQTI TSETPSSTTT
810 820 830 840 850
TQITKTVKGG ISETRIEKRI VITGDADIDH DQVLVQAIKE AKEQHPDMSV
860
TKVVVHQETE IADE
Length:864
Mass (Da):97,017
Last modified:March 7, 2006 - v4
Checksum:iB466E7A9D7FBF12B
GO
Isoform 2 (identifier: P11171-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     616-648: Missing.

Show »
Length:831
Mass (Da):93,239
Checksum:iE09038E1654F9248
GO
Isoform 3 (identifier: P11171-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-209: Missing.
     635-648: Missing.

Show »
Length:641
Mass (Da):71,955
Checksum:i0350A4E7EF6E8AE8
GO
Isoform 4 (identifier: P11171-4) [UniParc]FASTAAdd to basket
Also known as: Erythroid

The sequence of this isoform differs from the canonical sequence as follows:
     1-209: Missing.
     616-648: Missing.
     772-805: Missing.

Show »
Length:588
Mass (Da):66,399
Checksum:iD14399077034CFD5
GO
Isoform 5 (identifier: P11171-5) [UniParc]FASTAAdd to basket
Also known as: Non-erythroid A

The sequence of this isoform differs from the canonical sequence as follows:
     228-262: Missing.
     616-648: Missing.
     649-669: Missing.

Show »
Length:775
Mass (Da):86,603
Checksum:i4A2D98E32CF8552C
GO
Isoform 6 (identifier: P11171-6) [UniParc]FASTAAdd to basket
Also known as: Non-erythroid B

The sequence of this isoform differs from the canonical sequence as follows:
     1-209: Missing.
     228-262: Missing.
     616-648: Missing.
     649-669: Missing.

Show »
Length:566
Mass (Da):63,255
Checksum:i288A47844D5CCE62
GO
Isoform 7 (identifier: P11171-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     635-648: Missing.
     729-734: PPLVKT → VSTLST
     735-864: Missing.

Show »
Length:720
Mass (Da):81,235
Checksum:iAE02E72F2EB18335
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti51Q → H in AAD42222 (Ref. 5) Curated1
Sequence conflicti76S → N in AAD42222 (Ref. 5) Curated1
Sequence conflicti168F → S in AAD42223 (Ref. 9) Curated1
Sequence conflicti259A → T in AAD42222 (Ref. 5) Curated1
Sequence conflicti665N → S in AAD42222 (Ref. 5) Curated1
Sequence conflicti669E → K no nucleotide entry (PubMed:3194408).Curated1
Sequence conflicti679K → E in AAD42222 (Ref. 5) Curated1
Sequence conflicti802Q → K no nucleotide entry (PubMed:3223413).Curated1
Sequence conflicti802Q → K in AAA35793 (PubMed:3375238).Curated1
Sequence conflicti802Q → K in AAA35794 (PubMed:3375238).Curated1
Sequence conflicti852K → L no nucleotide entry (PubMed:3194408).Curated1
Sequence conflicti863D → E no nucleotide entry (PubMed:3194408).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_009122214V → I.1 PublicationCorresponds to variant rs111642750dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0004681 – 209Missing in isoform 3, isoform 4 and isoform 6. 4 PublicationsAdd BLAST209
Alternative sequenceiVSP_000469228 – 262Missing in isoform 5 and isoform 6. 2 PublicationsAdd BLAST35
Alternative sequenceiVSP_000470616 – 648Missing in isoform 2, isoform 4, isoform 5 and isoform 6. 3 PublicationsAdd BLAST33
Alternative sequenceiVSP_000471635 – 648Missing in isoform 3 and isoform 7. 2 PublicationsAdd BLAST14
Alternative sequenceiVSP_000472649 – 669Missing in isoform 5 and isoform 6. 2 PublicationsAdd BLAST21
Alternative sequenceiVSP_012872729 – 734PPLVKT → VSTLST in isoform 7. 1 Publication6
Alternative sequenceiVSP_012873735 – 864Missing in isoform 7. 1 PublicationAdd BLAST130
Alternative sequenceiVSP_000473772 – 805Missing in isoform 4. 1 PublicationAdd BLAST34

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M14993 mRNA. Translation: AAA35795.1.
J03796 mRNA. Translation: AAA35793.1.
J03796 mRNA. Translation: AAA35794.1.
M61733 mRNA. Translation: AAA35797.1.
AF156225 mRNA. Translation: AAD42222.1.
AL138785, AL357500 Genomic DNA. Translation: CAI21967.1.
AL138785, AL357500 Genomic DNA. Translation: CAI21966.1.
AL138785 Genomic DNA. Translation: CAI21968.1.
AL138785, AL357500 Genomic DNA. Translation: CAI21969.1.
AL138785, AL357500 Genomic DNA. Translation: CAI21970.1.
AL357500, AL138785 Genomic DNA. Translation: CAH71636.1.
AL357500, AL138785 Genomic DNA. Translation: CAH71637.1.
AL357500, AL138785 Genomic DNA. Translation: CAH71638.1.
AL357500, AL138785 Genomic DNA. Translation: CAH71639.1.
CH471059 Genomic DNA. Translation: EAX07663.1.
CH471059 Genomic DNA. Translation: EAX07665.1.
CH471059 Genomic DNA. Translation: EAX07667.1.
CH471059 Genomic DNA. Translation: EAX07668.1.
BC039079 mRNA. Translation: AAH39079.1.
AF156226 Genomic DNA. Translation: AAD42223.1.
CCDSiCCDS330.1. [P11171-5]
CCDS331.1. [P11171-4]
CCDS332.1. [P11171-3]
CCDS53288.1. [P11171-1]
CCDS53289.1. [P11171-7]
PIRiA39810. MMHUE4.
RefSeqiNP_001159477.1. NM_001166005.1. [P11171-1]
NP_001159478.1. NM_001166006.1. [P11171-7]
NP_004428.1. NM_004437.3. [P11171-4]
NP_976217.1. NM_203342.2. [P11171-3]
XP_005245818.1. XM_005245761.1. [P11171-1]
XP_005245821.1. XM_005245764.1. [P11171-2]
XP_016856078.1. XM_017000589.1. [P11171-5]
UniGeneiHs.175437.
Hs.708933.
Hs.712722.

Genome annotation databases

EnsembliENST00000343067; ENSP00000345259; ENSG00000159023. [P11171-1]
ENST00000347529; ENSP00000290100; ENSG00000159023. [P11171-5]
ENST00000349460; ENSP00000317597; ENSG00000159023. [P11171-3]
ENST00000373797; ENSP00000362903; ENSG00000159023. [P11171-7]
ENST00000373798; ENSP00000362904; ENSG00000159023. [P11171-1]
ENST00000373800; ENSP00000362906; ENSG00000159023. [P11171-4]
GeneIDi2035.
KEGGihsa:2035.
UCSCiuc001brg.3. human. [P11171-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M14993 mRNA. Translation: AAA35795.1.
J03796 mRNA. Translation: AAA35793.1.
J03796 mRNA. Translation: AAA35794.1.
M61733 mRNA. Translation: AAA35797.1.
AF156225 mRNA. Translation: AAD42222.1.
AL138785, AL357500 Genomic DNA. Translation: CAI21967.1.
AL138785, AL357500 Genomic DNA. Translation: CAI21966.1.
AL138785 Genomic DNA. Translation: CAI21968.1.
AL138785, AL357500 Genomic DNA. Translation: CAI21969.1.
AL138785, AL357500 Genomic DNA. Translation: CAI21970.1.
AL357500, AL138785 Genomic DNA. Translation: CAH71636.1.
AL357500, AL138785 Genomic DNA. Translation: CAH71637.1.
AL357500, AL138785 Genomic DNA. Translation: CAH71638.1.
AL357500, AL138785 Genomic DNA. Translation: CAH71639.1.
CH471059 Genomic DNA. Translation: EAX07663.1.
CH471059 Genomic DNA. Translation: EAX07665.1.
CH471059 Genomic DNA. Translation: EAX07667.1.
CH471059 Genomic DNA. Translation: EAX07668.1.
BC039079 mRNA. Translation: AAH39079.1.
AF156226 Genomic DNA. Translation: AAD42223.1.
CCDSiCCDS330.1. [P11171-5]
CCDS331.1. [P11171-4]
CCDS332.1. [P11171-3]
CCDS53288.1. [P11171-1]
CCDS53289.1. [P11171-7]
PIRiA39810. MMHUE4.
RefSeqiNP_001159477.1. NM_001166005.1. [P11171-1]
NP_001159478.1. NM_001166006.1. [P11171-7]
NP_004428.1. NM_004437.3. [P11171-4]
NP_976217.1. NM_203342.2. [P11171-3]
XP_005245818.1. XM_005245761.1. [P11171-1]
XP_005245821.1. XM_005245764.1. [P11171-2]
XP_016856078.1. XM_017000589.1. [P11171-5]
UniGeneiHs.175437.
Hs.708933.
Hs.712722.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1GG3X-ray2.80A/B/C210-488[»]
2RQ1NMR-A292-396[»]
3QIJX-ray1.80A/B211-488[»]
DisProtiDP00678.
ProteinModelPortaliP11171.
SMRiP11171.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108349. 32 interactors.
DIPiDIP-17032N.
IntActiP11171. 8 interactors.
MINTiMINT-1208648.
STRINGi9606.ENSP00000345259.

Protein family/group databases

TCDBi8.A.25.1.2. the ezrin/radixin/moesin (ezrin) family.

PTM databases

iPTMnetiP11171.
PhosphoSitePlusiP11171.
UniCarbKBiP11171.

Polymorphism and mutation databases

BioMutaiEPB41.
DMDMi90101808.

Proteomic databases

EPDiP11171.
MaxQBiP11171.
PaxDbiP11171.
PeptideAtlasiP11171.
PRIDEiP11171.

Protocols and materials databases

DNASUi2035.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000343067; ENSP00000345259; ENSG00000159023. [P11171-1]
ENST00000347529; ENSP00000290100; ENSG00000159023. [P11171-5]
ENST00000349460; ENSP00000317597; ENSG00000159023. [P11171-3]
ENST00000373797; ENSP00000362903; ENSG00000159023. [P11171-7]
ENST00000373798; ENSP00000362904; ENSG00000159023. [P11171-1]
ENST00000373800; ENSP00000362906; ENSG00000159023. [P11171-4]
GeneIDi2035.
KEGGihsa:2035.
UCSCiuc001brg.3. human. [P11171-1]

Organism-specific databases

CTDi2035.
DisGeNETi2035.
GeneCardsiEPB41.
HGNCiHGNC:3377. EPB41.
HPAiHPA028412.
HPA028414.
MalaCardsiEPB41.
MIMi130500. gene.
611804. phenotype.
neXtProtiNX_P11171.
OpenTargetsiENSG00000159023.
Orphaneti288. Hereditary elliptocytosis.
PharmGKBiPA27810.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IU7N. Eukaryota.
ENOG410XS0M. LUCA.
GeneTreeiENSGT00760000118823.
HOVERGENiHBG007777.
InParanoidiP11171.
KOiK06107.
OMAiGQQETQL.
OrthoDBiEOG091G00IL.
PhylomeDBiP11171.
TreeFamiTF351626.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000159023-MONOMER.
ReactomeiR-HSA-6794361. Interactions of neurexins and neuroligins at synapses.
SIGNORiP11171.

Miscellaneous databases

ChiTaRSiEPB41. human.
EvolutionaryTraceiP11171.
GeneWikiiEPB41.
GenomeRNAii2035.
PMAP-CutDBB1ALH9.
PROiP11171.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000159023.
CleanExiHS_EPB41.
ExpressionAtlasiP11171. baseline and differential.
GenevisibleiP11171. HS.

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.
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.
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]
PRINTSiPR00935. BAND41.
PR00661. ERMFAMILY.
SMARTiSM00295. B41. 1 hit.
SM01195. FA. 1 hit.
SM01196. FERM_C. 1 hit.
[Graphical view]
SUPFAMiSSF47031. SSF47031. 1 hit.
SSF50729. SSF50729. 1 hit.
SSF54236. SSF54236. 1 hit.
PROSITEiPS00660. FERM_1. 1 hit.
PS00661. FERM_2. 1 hit.
PS50057. FERM_3. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry namei41_HUMAN
AccessioniPrimary (citable) accession number: P11171
Secondary accession number(s): B1ALH8
, B1ALH9, D3DPM9, D3DPN0, P11176, Q14245, Q5TB35, Q5VXN8, Q8IXV9, Q9Y578, Q9Y579
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 1, 1989
Last sequence update: March 7, 2006
Last modified: November 2, 2016
This is version 194 of the entry and version 4 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

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.