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Protein

Erythrocyte membrane protein band 4.2

Gene

EPB42

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

Functioni

Probably plays an important role in the regulation of erythrocyte shape and mechanical properties.

Miscellaneous

The substitution of an Ala for a Cys in the active site may be responsible for the lack of transglutaminase activity of band 4.2.

GO - Molecular functioni

  • ATP binding Source: ProtInc
  • protein-glutamine gamma-glutamyltransferase activity Source: InterPro
  • structural constituent of cytoskeleton Source: ProtInc

GO - Biological processi

Keywordsi

Biological processCell shape, Erythrocyte maturation

Names & Taxonomyi

Protein namesi
Recommended name:
Erythrocyte membrane protein band 4.2
Short name:
Erythrocyte protein 4.2
Short name:
P4.2
Gene namesi
Name:EPB42
Synonyms:E42P
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

EuPathDBiHostDB:ENSG00000166947.11
HGNCiHGNC:3381 EPB42
MIMi177070 gene
neXtProtiNX_P16452

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Cytoskeleton, Membrane

Pathology & Biotechi

Involvement in diseasei

Spherocytosis 5 (SPH5)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionSpherocytosis is a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. Absence of band 4.2 associated with spur or target erythrocytes has also been reported.
See also OMIM:612690
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_007482112A → T in SPH5; Nippon/Fukuoka. 4 PublicationsCorresponds to variant dbSNP:rs104894487Ensembl.1
Natural variantiVAR_058099145D → Y in SPH5; Komatsu. 1 PublicationCorresponds to variant dbSNP:rs143682977Ensembl.1
Natural variantiVAR_012268280R → Q in SPH5; Tozeur. 1 PublicationCorresponds to variant dbSNP:rs121917734Ensembl.1
Natural variantiVAR_058100287R → C in SPH5; Shiga. 1 PublicationCorresponds to variant dbSNP:rs515726212Ensembl.1

Keywords - Diseasei

Disease mutation, Hereditary hemolytic anemia

Organism-specific databases

DisGeNETi2038
MalaCardsiEPB42
MIMi612690 phenotype
OpenTargetsiENSG00000166947
Orphaneti822 Hereditary spherocytosis
PharmGKBiPA27814

Polymorphism and mutation databases

BioMutaiEPB42
DMDMi215274164

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemoved
ChainiPRO_00002137202 – 691Erythrocyte membrane protein band 4.2Add BLAST690

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Lipidationi2N-myristoyl glycine1 Publication1
Modified residuei248Phosphoserine; by PKA1 Publication1

Post-translational modificationi

Both cAMP-dependent kinase (CAPK) and another kinase present in the red-blood cells seem to be able to phosphorylate EPB42.1 Publication

Keywords - PTMi

Lipoprotein, Myristate, Phosphoprotein

Proteomic databases

PaxDbiP16452
PeptideAtlasiP16452
PRIDEiP16452
ProteomicsDBi53363
53364 [P16452-2]

PTM databases

iPTMnetiP16452
PhosphoSitePlusiP16452

Expressioni

Gene expression databases

BgeeiENSG00000166947
CleanExiHS_EPB42
ExpressionAtlasiP16452 baseline and differential
GenevisibleiP16452 HS

Organism-specific databases

HPAiHPA040261

Interactioni

Subunit structurei

Oligomer. Interacts with the cytoplasmic domain of SLC4A1/band 3 anion transport protein.

Binary interactionsi

WithEntry#Exp.IntActNotes
SPINK7P580623EBI-1182496,EBI-1182445

Protein-protein interaction databases

BioGridi108352, 9 interactors
IntActiP16452, 3 interactors
STRINGi9606.ENSP00000300215

Structurei

3D structure databases

ProteinModelPortaliP16452
SMRiP16452
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni31 – 39Band 3 bindingBy similarity9

Sequence similaritiesi

Phylogenomic databases

eggNOGiENOG410IH88 Eukaryota
ENOG410YC7E LUCA
GeneTreeiENSGT00760000119108
HOGENOMiHOG000231695
HOVERGENiHBG106048
InParanoidiP16452
OMAiTSTECWM
OrthoDBiEOG091G030K
PhylomeDBiP16452
TreeFamiTF324278

Family and domain databases

Gene3Di2.60.40.10, 3 hits
3.90.260.10, 1 hit
InterProiView protein in InterPro
IPR013783 Ig-like_fold
IPR014756 Ig_E-set
IPR038765 Papain_like_cys_pep_sf
IPR002931 Transglutaminase-like
IPR036985 Transglutaminase-like_sf
IPR023608 Transglutaminase_animal
IPR013808 Transglutaminase_AS
IPR008958 Transglutaminase_C
IPR036238 Transglutaminase_C_sf
IPR001102 Transglutaminase_N
PfamiView protein in Pfam
PF00927 Transglut_C, 2 hits
PF01841 Transglut_core, 1 hit
PF00868 Transglut_N, 1 hit
PIRSFiPIRSF000459 TGM_EBP42, 1 hit
SMARTiView protein in SMART
SM00460 TGc, 1 hit
SUPFAMiSSF49309 SSF49309, 2 hits
SSF54001 SSF54001, 1 hit
SSF81296 SSF81296, 1 hit
PROSITEiView protein in PROSITE
PS00547 TRANSGLUTAMINASES, 1 hit

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform Short (identifier: P16452-1) [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
MGQALGIKSC DFQAARNNEE HHTKALSSRR LFVRRGQPFT IILYFRAPVR
60 70 80 90 100
AFLPALKKVA LTAQTGEQPS KINRTQATFP ISSLGDRKWW SAVVEERDAQ
110 120 130 140 150
SWTISVTTPA DAVIGHYSLL LQVSGRKQLL LGQFTLLFNP WNREDAVFLK
160 170 180 190 200
NEAQRMEYLL NQNGLIYLGT ADCIQAESWD FGQFEGDVID LSLRLLSKDK
210 220 230 240 250
QVEKWSQPVH VARVLGALLH FLKEQRVLPT PQTQATQEGA LLNKRRGSVP
260 270 280 290 300
ILRQWLTGRG RPVYDGQAWV LAAVACTVLR CLGIPARVVT TFASAQGTGG
310 320 330 340 350
RLLIDEYYNE EGLQNGEGQR GRIWIFQTST ECWMTRPALP QGYDGWQILH
360 370 380 390 400
PSAPNGGGVL GSCDLVPVRA VKEGTLGLTP AVSDLFAAIN ASCVVWKCCE
410 420 430 440 450
DGTLELTDSN TKYVGNNIST KGVGSDRCED ITQNYKYPEG SLQEKEVLER
460 470 480 490 500
VEKEKMEREK DNGIRPPSLE TASPLYLLLK APSSLPLRGD AQISVTLVNH
510 520 530 540 550
SEQEKAVQLA IGVQAVHYNG VLAAKLWRKK LHLTLSANLE KIITIGLFFS
560 570 580 590 600
NFERNPPENT FLRLTAMATH SESNLSCFAQ EDIAICRPHL AIKMPEKAEQ
610 620 630 640 650
YQPLTASVSL QNSLDAPMED CVISILGRGL IHRERSYRFR SVWPENTMCA
660 670 680 690
KFQFTPTHVG LQRLTVEVDC NMFQNLTNYK SVTVVAPELS A
Note: Major isoform.
Length:691
Mass (Da):77,009
Last modified:November 25, 2008 - v3
Checksum:i38225C311E478580
GO
Isoform Long (identifier: P16452-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     3-3: Q → QGEPSQRSTGLAGLYAAPAASPVFIKGSGMD

Show »
Length:721
Mass (Da):79,927
Checksum:iA1C85B41298A93C0
GO
Isoform 3 (identifier: P16452-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     324-395: Missing.

Note: No experimental confirmation available.
Show »
Length:619
Mass (Da):69,455
Checksum:i640A1E12CC4ED420
GO

Sequence cautioni

The sequence AAA36401 differs from that shown. Reason: Frameshift at positions 335 and 340.Curated
The sequence AAA36402 differs from that shown. Reason: Frameshift at positions 335 and 340.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti350H → D in AAA74589 (PubMed:2052563).Curated1
Sequence conflicti350H → D in AAA52385 (PubMed:2052563).Curated1
Sequence conflicti350H → D in AAA35798 (PubMed:2300550).Curated1
Sequence conflicti376L → V in AAA74589 (PubMed:2052563).Curated1
Sequence conflicti376L → V in AAA52385 (PubMed:2052563).Curated1
Sequence conflicti376L → V in AAA35798 (PubMed:2300550).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_007482112A → T in SPH5; Nippon/Fukuoka. 4 PublicationsCorresponds to variant dbSNP:rs104894487Ensembl.1
Natural variantiVAR_058099145D → Y in SPH5; Komatsu. 1 PublicationCorresponds to variant dbSNP:rs143682977Ensembl.1
Natural variantiVAR_012268280R → Q in SPH5; Tozeur. 1 PublicationCorresponds to variant dbSNP:rs121917734Ensembl.1
Natural variantiVAR_058100287R → C in SPH5; Shiga. 1 PublicationCorresponds to variant dbSNP:rs515726212Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0064163Q → QGEPSQRSTGLAGLYAAPAA SPVFIKGSGMD in isoform Long. 2 Publications1
Alternative sequenceiVSP_055340324 – 395Missing in isoform 3. 1 PublicationAdd BLAST72

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M60298 mRNA Translation: AAA74589.1
L06519
, L06447, L06448, L06449, L06450, L06511, L06512, L06513, L06515, L06516, L06517, L06518 Genomic DNA Translation: AAA52385.1
M29399 mRNA Translation: AAA35798.1
M30647 mRNA Translation: AAA36401.1 Frameshift.
M30646 mRNA Translation: AAA36402.1 Frameshift.
AC068724 Genomic DNA No translation available.
CH471125 Genomic DNA Translation: EAW92591.1
BC096093 mRNA Translation: AAH96093.1
BC096094 mRNA Translation: AAH96094.1
BC099627 mRNA Translation: AAH99627.1
CCDSiCCDS10093.1 [P16452-2]
CCDS45249.1 [P16452-1]
PIRiA39707
RefSeqiNP_000110.2, NM_000119.2 [P16452-2]
NP_001107606.1, NM_001114134.1 [P16452-1]
XP_011519651.1, XM_011521349.2 [P16452-2]
XP_011519652.1, XM_011521350.2 [P16452-2]
XP_011519653.1, XM_011521351.2 [P16452-2]
UniGeneiHs.368642

Genome annotation databases

EnsembliENST00000441366; ENSP00000396616; ENSG00000166947 [P16452-1]
ENST00000568508; ENSP00000457140; ENSG00000166947 [P16452-2]
ENST00000622454; ENSP00000481226; ENSG00000166947 [P16452-3]
GeneIDi2038
KEGGihsa:2038
UCSCiuc001zra.5 human [P16452-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiEPB42_HUMAN
AccessioniPrimary (citable) accession number: P16452
Secondary accession number(s): Q4KKX0, Q4VB97
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 1, 1990
Last sequence update: November 25, 2008
Last modified: June 20, 2018
This is version 184 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, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: 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

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