Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 191 (08 May 2019)
Sequence version 3 (25 Nov 2008)
Previous versions | rss
Other tutorials and videosHelp videoFeedback
Protein

Erythrocyte membrane protein band 4.2

Gene

EPB42

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

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processCell shape, Erythrocyte maturation

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Erythrocyte membrane protein band 4.2
Short name:
Erythrocyte protein 4.2
Short name:
P4.2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:EPB42
Synonyms:E42P
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 15

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:3381 EPB42

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
177070 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P16452

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Cytoskeleton, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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

DisGeNET

More...
DisGeNETi
2038

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
EPB42

MalaCards human disease database

More...
MalaCardsi
EPB42
MIMi612690 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000166947

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
822 Hereditary spherocytosis

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA27814

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
EPB42

Domain mapping of disease mutations (DMDM)

More...
DMDMi
215274164

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemoved
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002137202 – 691Erythrocyte membrane protein band 4.2Add BLAST690

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position(s) and the type of covalently attached lipid group(s).<p><a href='/help/lipid' target='_top'>More...</a></p>Lipidationi2N-myristoyl glycine1 Publication1
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei248Phosphoserine; by PKA1 Publication1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>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

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
P16452

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
P16452

PeptideAtlas

More...
PeptideAtlasi
P16452

PRoteomics IDEntifications database

More...
PRIDEi
P16452

ProteomicsDB human proteome resource

More...
ProteomicsDBi
53363
53364 [P16452-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P16452

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
P16452

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000166947 Expressed in 106 organ(s), highest expression level in trabecular bone tissue

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
P16452 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P16452 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA040261

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

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

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
108352, 10 interactors

Protein interaction database and analysis system

More...
IntActi
P16452, 5 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000300215

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
P16452

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni31 – 39Band 3 bindingBy similarity9

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IH88 Eukaryota
ENOG410YC7E LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00950000182628

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000231695

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P16452

Identification of Orthologs from Complete Genome Data

More...
OMAi
GWQILYP

Database of Orthologous Groups

More...
OrthoDBi
297055at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P16452

TreeFam database of animal gene trees

More...
TreeFami
TF324278

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.60.40.10, 3 hits
3.90.260.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View 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

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00927 Transglut_C, 2 hits
PF01841 Transglut_core, 1 hit
PF00868 Transglut_N, 1 hit

PIRSF; a whole-protein classification database

More...
PIRSFi
PIRSF000459 TGM_EBP42, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00460 TGc, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF49309 SSF49309, 2 hits
SSF54001 SSF54001, 1 hit
SSF81296 SSF81296, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00547 TRANSGLUTAMINASES, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BTE6H3BTE6_HUMAN
Erythrocyte membrane protein band 4...
EPB42
543Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5H563F5H563_HUMAN
Erythrocyte membrane protein band 4...
EPB42
613Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H3BUR1H3BUR1_HUMAN
Erythrocyte membrane protein band 4...
EPB42
147Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H3BPV8H3BPV8_HUMAN
Erythrocyte membrane protein band 4...
EPB42
191Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS10093.1 [P16452-2]
CCDS45249.1 [P16452-1]

Protein sequence database of the Protein Information Resource

More...
PIRi
A39707

NCBI Reference Sequences

More...
RefSeqi
NP_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]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000441366; ENSP00000396616; ENSG00000166947 [P16452-1]
ENST00000568508; ENSP00000457140; ENSG00000166947 [P16452-2]
ENST00000622454; ENSP00000481226; ENSG00000166947 [P16452-3]
ENST00000648595; ENSP00000497777; ENSG00000166947 [P16452-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
2038

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:2038

UCSC genome browser

More...
UCSCi
uc001zra.5 human [P16452-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

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]

3D structure databases

SMRiP16452
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108352, 10 interactors
IntActiP16452, 5 interactors
STRINGi9606.ENSP00000300215

PTM databases

iPTMnetiP16452
PhosphoSitePlusiP16452

Polymorphism and mutation databases

BioMutaiEPB42
DMDMi215274164

Proteomic databases

jPOSTiP16452
PaxDbiP16452
PeptideAtlasiP16452
PRIDEiP16452
ProteomicsDBi53363
53364 [P16452-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000441366; ENSP00000396616; ENSG00000166947 [P16452-1]
ENST00000568508; ENSP00000457140; ENSG00000166947 [P16452-2]
ENST00000622454; ENSP00000481226; ENSG00000166947 [P16452-3]
ENST00000648595; ENSP00000497777; ENSG00000166947 [P16452-2]
GeneIDi2038
KEGGihsa:2038
UCSCiuc001zra.5 human [P16452-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
2038
DisGeNETi2038

GeneCards: human genes, protein and diseases

More...
GeneCardsi
EPB42
GeneReviewsiEPB42
HGNCiHGNC:3381 EPB42
HPAiHPA040261
MalaCardsiEPB42
MIMi177070 gene
612690 phenotype
neXtProtiNX_P16452
OpenTargetsiENSG00000166947
Orphaneti822 Hereditary spherocytosis
PharmGKBiPA27814

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IH88 Eukaryota
ENOG410YC7E LUCA
GeneTreeiENSGT00950000182628
HOGENOMiHOG000231695
InParanoidiP16452
OMAiGWQILYP
OrthoDBi297055at2759
PhylomeDBiP16452
TreeFamiTF324278

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
Protein_4.2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
2038

Protein Ontology

More...
PROi
PR:P16452

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000166947 Expressed in 106 organ(s), highest expression level in trabecular bone tissue
ExpressionAtlasiP16452 baseline and differential
GenevisibleiP16452 HS

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

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiEPB42_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P16452
Secondary accession number(s): Q4KKX0, Q4VB97
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 1, 1990
Last sequence update: November 25, 2008
Last modified: May 8, 2019
This is version 191 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>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. SIMILARITY comments
    Index of protein domains and families
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again