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Entry version 129 (08 May 2019)
Sequence version 3 (18 May 2010)
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Protein

Exophilin-5

Gene

EXPH5

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

May act as Rab effector protein and play a role in vesicle trafficking.

<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

  • Rab GTPase binding Source: UniProtKB

GO - Biological processi

<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:
Exophilin-5
Alternative name(s):
Synaptotagmin-like protein homolog lacking C2 domains b
Short name:
SlaC2-b
Short name:
Slp homolog lacking C2 domains b
<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:EXPH5
Synonyms:KIAA0624, SLAC2B
<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 11

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:30578 EXPH5

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
612878 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8NEV8

<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

<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

Epidermolysis bullosa, non-specific, autosomal recessive (EBNS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA skin disease characterized by blistering of skin and mucosae, following minimal pressure or trauma. Various clinical types with different severity are recognized, ranging from severe mutilating forms to mild forms with limited and localized scarring, and less frequent extracutaneous manifestations. EBNS clinical features mainly comprise trauma-induced scale crusts and intermittent skin blistering. Some of the crusted areas are hemorrhagic and accompanied by occasional bruising. Most lesions clear over several weeks to leave slightly atrophic scars and moderate post-inflammatory hyperpigmentation.
See also OMIM:615028

<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>Keywords - Diseasei

Epidermolysis bullosa

Organism-specific databases

DisGeNET

More...
DisGeNETi
23086

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

More...
GeneReviewsi
EXPH5

MalaCards human disease database

More...
MalaCardsi
EXPH5
MIMi615028 phenotype

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

More...
Orphaneti
412189 Epidermolysis bullosa simplex due to exophilin 5 deficiency

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
EXPH5

Domain mapping of disease mutations (DMDM)

More...
DMDMi
296439360

<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 ‘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_00001902301 – 1989Exophilin-5Add BLAST1989

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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 residuei603PhosphoserineCombined sources1
Modified residuei806PhosphoserineCombined sources1
Modified residuei809PhosphoserineCombined sources1
Modified residuei1028PhosphoserineCombined sources1
Modified residuei1086PhosphoserineCombined sources1
Modified residuei1124PhosphoserineCombined sources1
Modified residuei1505PhosphoserineCombined sources1
Modified residuei1753PhosphoserineCombined sources1
Modified residuei1768PhosphoserineCombined sources1
Modified residuei1821PhosphoserineCombined sources1
Modified residuei1851PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q8NEV8

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q8NEV8

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q8NEV8

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

More...
PaxDbi
Q8NEV8

PeptideAtlas

More...
PeptideAtlasi
Q8NEV8

PRoteomics IDEntifications database

More...
PRIDEi
Q8NEV8

ProteomicsDB human proteome resource

More...
ProteomicsDBi
73221
73222 [Q8NEV8-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8NEV8

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

More...
PhosphoSitePlusi
Q8NEV8

<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

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in keratinocytes.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000110723 Expressed in 192 organ(s), highest expression level in chorionic villus

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q8NEV8 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8NEV8 HS

<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

Interacts with RAB27A.By similarity

GO - Molecular functioni

Protein-protein interaction databases

Protein interaction database and analysis system

More...
IntActi
Q8NEV8, 4 interactors

Molecular INTeraction database

More...
MINTi
Q8NEV8

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000265843

<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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini7 – 63RabBDPROSITE-ProRule annotationAdd BLAST57

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IEGS Eukaryota
ENOG4111DX8 LUCA

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000112418

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8NEV8

KEGG Orthology (KO)

More...
KOi
K22236

Database of Orthologous Groups

More...
OrthoDBi
59101at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8NEV8

TreeFam database of animal gene trees

More...
TreeFami
TF335662

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR039916 EXPH5
IPR010911 Rab_BD

The PANTHER Classification System

More...
PANTHERi
PTHR21469 PTHR21469, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50916 RABBD, 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 (2+)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.

This entry describes 2 <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 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8NEV8-1) [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
MTKVPPAFDF SFLNDEEARK ILQVLERNEE LQRAEKDRIS KLQKTKRDIR
60 70 80 90 100
WLQGVTGEWF EEIQRKKFCN ETDVSQMLKQ PLTYRLSKEM AKNDPIELPT
110 120 130 140 150
SRSKNVTNQK KPTPFSSRMS FRSSFASLFS FRKSGKETSK LPSLGQKGCD
160 170 180 190 200
GHAGPPMPVR GAAVQAKIYN SPLENHLVDS TFVPKPAVMR EESGMPPPWD
210 220 230 240 250
ASLLENEFFQ VLDDLDSKLA QEQSASSVNT RTPLNYGSRT QFGHFYSSGN
260 270 280 290 300
RHGNITERHK KHYNETSNMS IYDILRPGTP REGFKTFSPR TSTIYDMYRT
310 320 330 340 350
REPRVFKEDY VQKNTFGSTS LCFDSRQRSA LPATGHFTAR SLHFPATTQS
360 370 380 390 400
KSGFIPPRHQ QSPKRTPLSS IIWNRSDSSR DRENQEEFLR APSPMEIDPA
410 420 430 440 450
DKYVYPRGFQ ENKRYESYHS QNVYQRVSLN APMENAMSPD TFENSENMPF
460 470 480 490 500
YHQSNTFTRS FFSNTFGRSG EQRRFGQGPF WGQEKGHSFW SDFHRSRKSF
510 520 530 540 550
SSSDRDFEMI SMEANSVSAI HGHNVSSEHW ESFSSGYGTD VSRGQEEPHP
560 570 580 590 600
WQFDFQRSTL DSMVVSHGNE TQLTPHFGTP NVCSMTGSSY HVKSSELVSQ
610 620 630 640 650
QDSSPVEVHI NKEASSFGIA QTLASSFKTS FSQISDDRRN PQSPNLQNPT
660 670 680 690 700
VTLQKIFPNK PASHPMRSHT EVTVTSSNSV DSLPLAKSQP NILVTEVNNE
710 720 730 740 750
KDLNESISEE DKQLSKMDQT NKAGEIPQPV SQTGISNSLP DFQNPLSQDS
760 770 780 790 800
AKSNGFGFNA STIISSKKSP RVFSRKDTSK MYIPHTDKSN DIKQDKRFTE
810 820 830 840 850
NRKLGSTASL PFIQEHRTPP SFPRTDQGCH QELTVNNEDI SRIITNNHWS
860 870 880 890 900
SALTDTQNAQ YSKCKLTPGH KTSCDSLDLS SAALPDSSPS KNSSLDAPVV
910 920 930 940 950
PSTTVFSRRS PSDKDPSLGE REEKDNAGKN QKNQFIVSHS ENQERNDSPV
960 970 980 990 1000
PTHDEVVDVK CHSHSPFRNE RGKGKIRHHI SCIEKLSKTE SISVPTSDHR
1010 1020 1030 1040 1050
SLIEANQSNS KVSELDTIYC TLPRKSSSFL IHGRQSGSKI MAASLRNGPP
1060 1070 1080 1090 1100
PFQIKNNVED AMGNYMLNKF SPSSPESANE CSKVLSDSAL EAPEATERMT
1110 1120 1130 1140 1150
NVKSSGSTSV RKGPLPFLIN RAMSCPSGEP HASTGREGRK KPLTSGMDAS
1160 1170 1180 1190 1200
ELTPRAWERI ISPVESDSSV RDCSLTKRQH QKENFQEYTE KEGKMAASRR
1210 1220 1230 1240 1250
SVFALSNEDP LPFCSDLSGK ERGKTLHKVK TTSTFSVSGD EDNVKCLEVV
1260 1270 1280 1290 1300
SIYYTLPRKP SKKFCNLLQQ YTQNTNLLIE SPQVETETFP NALEKDKQNY
1310 1320 1330 1340 1350
STREQSGTPS CENLKMSVNS DQTLTTENMT AFRLSNRGPL APTLQEMASV
1360 1370 1380 1390 1400
EAAVSLPEEE SKAREIFSDN LAKTPLGDSE NKKERGKKLQ SETLHTSLML
1410 1420 1430 1440 1450
QRKNVSEEKS ENCQQSINSS NSGPSSLPAL SEVNIGNSQT RRSSWECTGS
1460 1470 1480 1490 1500
GRAIPFTGSG KCPQKDHTST AVGDGSSGSQ PREGRGDIGT NCQKMTNKTL
1510 1520 1530 1540 1550
SHSESQVFAL TPALHKLQLG EETQSDEPNL ESLQSEPREL PQRSQEANMT
1560 1570 1580 1590 1600
ESRKAEDEMQ KSAWDQPSLP EGNKNKTNLD DLVKGENRSS VKHRLAAMSK
1610 1620 1630 1640 1650
ASRKFPAKDV SPRRHVATIF PQSGSRSGFD HLSLGTVECN PLFPEPTPKS
1660 1670 1680 1690 1700
AESIGESRLS ENGKHVKKSE NLLPITVLPN REPSTHVSNQ KSNSISQRHQ
1710 1720 1730 1740 1750
NEFKNVSESP SKHENSKDVT AAQNLVRESG APSPITFTSL REAEFSDNQR
1760 1770 1780 1790 1800
RLSPPFPLEP AQKSRVSSPL ASFLQQQRSA SSLEWEPEPH LYRSKSLKSI
1810 1820 1830 1840 1850
NVHGDLLRKS HPPKVRERHF SESTSIDNAL SRLTLGNEFS VNNGYSRRFR
1860 1870 1880 1890 1900
SFSELPSCDG NESWAYRSGT KTGPRSAISI YRPIDYGIFG KEQQLAFLEN
1910 1920 1930 1940 1950
VKRSLTQGRL WKPSFLKNPG FLKDDLRNPP NPSESLSSNS PSSQVPEDGL
1960 1970 1980
SPSEPLNIYE DDPVDSNCDT DTTTDDEYYL DENDKESEL
Length:1,989
Mass (Da):222,519
Last modified:May 18, 2010 - 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:i8436430AD5696FE2
GO
Isoform 2 (identifier: Q8NEV8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-10: MTKVPPAFDF → MSL

Show »
Length:1,982
Mass (Da):221,716
Checksum:i323F7E751CFF9C0E
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
F5GXG5F5GXG5_HUMAN
Exophilin-5
EXPH5
1,192Annotation 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>
E9PPH6E9PPH6_HUMAN
Exophilin-5
EXPH5
1,733Annotation 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>
E9PIT1E9PIT1_HUMAN
Exophilin-5
EXPH5
79Annotation 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>
A0A087WZJ0A0A087WZJ0_HUMAN
Exophilin-5
EXPH5
544Annotation 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 BAA31599 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Natural variant

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_03053819R → G2 PublicationsCorresponds to variant dbSNP:rs2640738Ensembl.1
Natural variantiVAR_030539118R → L. Corresponds to variant dbSNP:rs3741046Ensembl.1
Natural variantiVAR_030540137E → V. Corresponds to variant dbSNP:rs2640785Ensembl.1
Natural variantiVAR_030541328R → Q. Corresponds to variant dbSNP:rs11212684Ensembl.1
Natural variantiVAR_030542512M → L. Corresponds to variant dbSNP:rs17108127Ensembl.1
Natural variantiVAR_030543525V → F. Corresponds to variant dbSNP:rs12146448Ensembl.1
Natural variantiVAR_030544676S → N3 PublicationsCorresponds to variant dbSNP:rs2846412Ensembl.1
Natural variantiVAR_030545777D → N. Corresponds to variant dbSNP:rs3741048Ensembl.1
Natural variantiVAR_030546853L → P. Corresponds to variant dbSNP:rs10749920Ensembl.1
Natural variantiVAR_030547892N → Y. Corresponds to variant dbSNP:rs10890850Ensembl.1
Natural variantiVAR_030548899V → A. Corresponds to variant dbSNP:rs17108112Ensembl.1
Natural variantiVAR_0571171147M → I. Corresponds to variant dbSNP:rs34012545Ensembl.1
Natural variantiVAR_0571181236S → A. Corresponds to variant dbSNP:rs35520914Ensembl.1
Natural variantiVAR_0305491240D → N. Corresponds to variant dbSNP:rs11828459Ensembl.1
Natural variantiVAR_0305501311C → R. Corresponds to variant dbSNP:rs877474Ensembl.1
Natural variantiVAR_0571191343T → A. Corresponds to variant dbSNP:rs34978242Ensembl.1
Natural variantiVAR_0571201656E → K. Corresponds to variant dbSNP:rs35083468Ensembl.1
Natural variantiVAR_0305511663G → R3 PublicationsCorresponds to variant dbSNP:rs2640779Ensembl.1
Natural variantiVAR_0571211735I → F. Corresponds to variant dbSNP:rs35717245Ensembl.1
Natural variantiVAR_0305521967N → D3 PublicationsCorresponds to variant dbSNP:rs1943382Ensembl.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_0079061 – 10MTKVPPAFDF → MSL in isoform 2. 1 Publication10

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AY099469 mRNA Translation: AAM44402.1
AB014524 mRNA Translation: BAA31599.1 Different initiation.
AP000871 Genomic DNA No translation available.
AP002453 Genomic DNA No translation available.
AP005718 Genomic DNA No translation available.
BC113119 mRNA Translation: AAI13120.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS76473.1 [Q8NEV8-2]
CCDS8341.1 [Q8NEV8-1]

Protein sequence database of the Protein Information Resource

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PIRi
T00385

NCBI Reference Sequences

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RefSeqi
NP_001294948.1, NM_001308019.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000265843; ENSP00000265843; ENSG00000110723
ENST00000525344; ENSP00000432546; ENSG00000110723

Database of genes from NCBI RefSeq genomes

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GeneIDi
23086

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:23086

UCSC genome browser

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UCSCi
uc001pkk.3 human [Q8NEV8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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
AY099469 mRNA Translation: AAM44402.1
AB014524 mRNA Translation: BAA31599.1 Different initiation.
AP000871 Genomic DNA No translation available.
AP002453 Genomic DNA No translation available.
AP005718 Genomic DNA No translation available.
BC113119 mRNA Translation: AAI13120.1
CCDSiCCDS76473.1 [Q8NEV8-2]
CCDS8341.1 [Q8NEV8-1]
PIRiT00385
RefSeqiNP_001294948.1, NM_001308019.1

3D structure databases

Database of comparative protein structure models

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ModBasei
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

IntActiQ8NEV8, 4 interactors
MINTiQ8NEV8
STRINGi9606.ENSP00000265843

PTM databases

iPTMnetiQ8NEV8
PhosphoSitePlusiQ8NEV8

Polymorphism and mutation databases

BioMutaiEXPH5
DMDMi296439360

Proteomic databases

EPDiQ8NEV8
jPOSTiQ8NEV8
MaxQBiQ8NEV8
PaxDbiQ8NEV8
PeptideAtlasiQ8NEV8
PRIDEiQ8NEV8
ProteomicsDBi73221
73222 [Q8NEV8-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000265843; ENSP00000265843; ENSG00000110723
ENST00000525344; ENSP00000432546; ENSG00000110723
GeneIDi23086
KEGGihsa:23086
UCSCiuc001pkk.3 human [Q8NEV8-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
23086
DisGeNETi23086

GeneCards: human genes, protein and diseases

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GeneCardsi
EXPH5
GeneReviewsiEXPH5
HGNCiHGNC:30578 EXPH5
MalaCardsiEXPH5
MIMi612878 gene
615028 phenotype
neXtProtiNX_Q8NEV8
Orphaneti412189 Epidermolysis bullosa simplex due to exophilin 5 deficiency

Human Unidentified Gene-Encoded large proteins database

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HUGEi
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GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IEGS Eukaryota
ENOG4111DX8 LUCA
HOGENOMiHOG000112418
InParanoidiQ8NEV8
KOiK22236
OrthoDBi59101at2759
PhylomeDBiQ8NEV8
TreeFamiTF335662

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
EXPH5 human

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

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GenomeRNAii
23086

Protein Ontology

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PROi
PR:Q8NEV8

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000110723 Expressed in 192 organ(s), highest expression level in chorionic villus
ExpressionAtlasiQ8NEV8 baseline and differential
GenevisibleiQ8NEV8 HS

Family and domain databases

InterProiView protein in InterPro
IPR039916 EXPH5
IPR010911 Rab_BD
PANTHERiPTHR21469 PTHR21469, 1 hit
PROSITEiView protein in PROSITE
PS50916 RABBD, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<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 nameiEXPH5_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: Q8NEV8
Secondary accession number(s): Q2KHM1, Q9Y4D6
<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: July 25, 2003
Last sequence update: May 18, 2010
Last modified: May 8, 2019
This is version 129 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, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: 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
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