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Protein

Exophilin-5

Gene

EXPH5

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

Functioni

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

GO - Molecular functioni

  • Rab GTPase binding Source: UniProtKB

GO - Biological processi

  • intracellular protein transport Source: InterPro
  • keratinocyte development Source: UniProtKB
  • multivesicular body sorting pathway Source: UniProtKB
  • positive regulation of exocytosis Source: UniProtKB
  • positive regulation of protein secretion Source: UniProtKB
Complete GO annotation...

Names & Taxonomyi

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
Gene namesi
Name:EXPH5
Synonyms:KIAA0624, SLAC2B
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:30578. EXPH5.

Subcellular locationi

GO - Cellular componenti

  • endosome Source: UniProtKB
Complete GO annotation...

Pathology & Biotechi

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

Keywords - Diseasei

Epidermolysis bullosa

Organism-specific databases

MalaCardsiEXPH5.
MIMi615028. phenotype.

Polymorphism and mutation databases

DMDMi296439360.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 19891989Exophilin-5PRO_0000190230Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei603 – 6031PhosphoserineCombined sources
Modified residuei806 – 8061PhosphoserineCombined sources
Modified residuei809 – 8091PhosphoserineCombined sources
Modified residuei1028 – 10281PhosphoserineCombined sources
Modified residuei1086 – 10861PhosphoserineCombined sources
Modified residuei1124 – 11241PhosphoserineCombined sources
Modified residuei1505 – 15051PhosphoserineCombined sources
Modified residuei1753 – 17531PhosphoserineCombined sources
Modified residuei1768 – 17681PhosphoserineCombined sources
Modified residuei1821 – 18211PhosphoserineCombined sources
Modified residuei1851 – 18511PhosphoserineCombined sources

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ8NEV8.
MaxQBiQ8NEV8.
PaxDbiQ8NEV8.
PeptideAtlasiQ8NEV8.
PRIDEiQ8NEV8.

PTM databases

iPTMnetiQ8NEV8.
PhosphoSiteiQ8NEV8.

Expressioni

Tissue specificityi

Expressed in keratinocytes.1 Publication

Gene expression databases

BgeeiENSG00000110723.
CleanExiHS_EXPH5.
ExpressionAtlasiQ8NEV8. baseline and differential.
GenevisibleiQ8NEV8. HS.

Organism-specific databases

HPAiHPA037840.

Interactioni

Subunit structurei

Interacts with RAB27A.By similarity

GO - Molecular functioni

  • Rab GTPase binding Source: UniProtKB

Protein-protein interaction databases

IntActiQ8NEV8. 3 interactions.
MINTiMINT-1198074.
STRINGi9606.ENSP00000265843.

Structurei

3D structure databases

ProteinModelPortaliQ8NEV8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini7 – 6357RabBDPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 1 RabBD (Rab-binding) domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiENOG410IEGS. Eukaryota.
ENOG4111DX8. LUCA.
HOGENOMiHOG000112418.
HOVERGENiHBG067353.
InParanoidiQ8NEV8.
OrthoDBiEOG091G00EG.
PhylomeDBiQ8NEV8.
TreeFamiTF335662.

Family and domain databases

Gene3Di3.30.40.10. 1 hit.
InterProiIPR010911. Rab_BD.
IPR013083. Znf_RING/FYVE/PHD.
[Graphical view]
PROSITEiPS50916. RABBD. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

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
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

Sequence cautioni

The sequence BAA31599 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti19 – 191R → G.2 Publications
Corresponds to variant rs2640738 [ dbSNP | Ensembl ].
VAR_030538
Natural varianti118 – 1181R → L.
Corresponds to variant rs3741046 [ dbSNP | Ensembl ].
VAR_030539
Natural varianti137 – 1371E → V.
Corresponds to variant rs2640785 [ dbSNP | Ensembl ].
VAR_030540
Natural varianti328 – 3281R → Q.
Corresponds to variant rs11212684 [ dbSNP | Ensembl ].
VAR_030541
Natural varianti512 – 5121M → L.
Corresponds to variant rs17108127 [ dbSNP | Ensembl ].
VAR_030542
Natural varianti525 – 5251V → F.
Corresponds to variant rs12146448 [ dbSNP | Ensembl ].
VAR_030543
Natural varianti676 – 6761S → N.3 Publications
Corresponds to variant rs2846412 [ dbSNP | Ensembl ].
VAR_030544
Natural varianti777 – 7771D → N.
Corresponds to variant rs3741048 [ dbSNP | Ensembl ].
VAR_030545
Natural varianti853 – 8531L → P.
Corresponds to variant rs10749920 [ dbSNP | Ensembl ].
VAR_030546
Natural varianti892 – 8921N → Y.
Corresponds to variant rs10890850 [ dbSNP | Ensembl ].
VAR_030547
Natural varianti899 – 8991V → A.
Corresponds to variant rs17108112 [ dbSNP | Ensembl ].
VAR_030548
Natural varianti1147 – 11471M → I.
Corresponds to variant rs34012545 [ dbSNP | Ensembl ].
VAR_057117
Natural varianti1236 – 12361S → A.
Corresponds to variant rs35520914 [ dbSNP | Ensembl ].
VAR_057118
Natural varianti1240 – 12401D → N.
Corresponds to variant rs11828459 [ dbSNP | Ensembl ].
VAR_030549
Natural varianti1311 – 13111C → R.
Corresponds to variant rs877474 [ dbSNP | Ensembl ].
VAR_030550
Natural varianti1343 – 13431T → A.
Corresponds to variant rs34978242 [ dbSNP | Ensembl ].
VAR_057119
Natural varianti1656 – 16561E → K.
Corresponds to variant rs35083468 [ dbSNP | Ensembl ].
VAR_057120
Natural varianti1663 – 16631G → R.3 Publications
Corresponds to variant rs2640779 [ dbSNP | Ensembl ].
VAR_030551
Natural varianti1735 – 17351I → F.
Corresponds to variant rs35717245 [ dbSNP | Ensembl ].
VAR_057121
Natural varianti1967 – 19671N → D.3 Publications
Corresponds to variant rs1943382 [ dbSNP | Ensembl ].
VAR_030552

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 1010MTKVPPAFDF → MSL in isoform 2. 1 PublicationVSP_007906

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.
UniGeneiHs.28540.

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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.
UniGeneiHs.28540.

3D structure databases

ProteinModelPortaliQ8NEV8.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ8NEV8. 3 interactions.
MINTiMINT-1198074.
STRINGi9606.ENSP00000265843.

PTM databases

iPTMnetiQ8NEV8.
PhosphoSiteiQ8NEV8.

Polymorphism and mutation databases

DMDMi296439360.

Proteomic databases

EPDiQ8NEV8.
MaxQBiQ8NEV8.
PaxDbiQ8NEV8.
PeptideAtlasiQ8NEV8.
PRIDEiQ8NEV8.

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

CTDi23086.
GeneCardsiEXPH5.
HGNCiHGNC:30578. EXPH5.
HPAiHPA037840.
MalaCardsiEXPH5.
MIMi612878. gene.
615028. phenotype.
neXtProtiNX_Q8NEV8.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IEGS. Eukaryota.
ENOG4111DX8. LUCA.
HOGENOMiHOG000112418.
HOVERGENiHBG067353.
InParanoidiQ8NEV8.
OrthoDBiEOG091G00EG.
PhylomeDBiQ8NEV8.
TreeFamiTF335662.

Miscellaneous databases

ChiTaRSiEXPH5. human.
GenomeRNAii23086.
PROiQ8NEV8.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000110723.
CleanExiHS_EXPH5.
ExpressionAtlasiQ8NEV8. baseline and differential.
GenevisibleiQ8NEV8. HS.

Family and domain databases

Gene3Di3.30.40.10. 1 hit.
InterProiIPR010911. Rab_BD.
IPR013083. Znf_RING/FYVE/PHD.
[Graphical view]
PROSITEiPS50916. RABBD. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiEXPH5_HUMAN
AccessioniPrimary (citable) accession number: Q8NEV8
Secondary accession number(s): Q2KHM1, Q9Y4D6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 25, 2003
Last sequence update: May 18, 2010
Last modified: September 7, 2016
This is version 113 of the entry and version 3 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

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
  5. 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.