EXPH5

Protein identityUniProt · HPA

UniProt accession

Q8NEV8

Gene

EXPH5

Ensembl

ENSG00000110723

Chromosome

11

Canonical length

1989 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

OverviewNCBI Gene

The protein encoded by this gene is a member of the synaptotagmin-like protein (Slp) family lacking a C2 domain. It contains an N-terminal synaptotagmin-like homology domain (SHD), and is a ras-related protein Rab-27B effector protein. This protein is thought to be involved in exosome secretion and intracellular vesicle trafficking. Reduced expression of this gene results in keratin filament defects. Mutations in this gene have been associated with some cases of epidermolysis bullosa, an inherited skin fragility disorder. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]

Canonical amino-acid sequenceUniProt

1989 residues, UniProt reviewed canonical sequence.

>Q8NEV8|EXPH5
     1  MTKVPPAFDF SFLNDEEARK ILQVLERNEE LQRAEKDRIS KLQKTKRDIR WLQGVTGEWF
    61  EEIQRKKFCN ETDVSQMLKQ PLTYRLSKEM AKNDPIELPT SRSKNVTNQK KPTPFSSRMS
   121  FRSSFASLFS FRKSGKETSK LPSLGQKGCD GHAGPPMPVR GAAVQAKIYN SPLENHLVDS
   181  TFVPKPAVMR EESGMPPPWD ASLLENEFFQ VLDDLDSKLA QEQSASSVNT RTPLNYGSRT
   241  QFGHFYSSGN RHGNITERHK KHYNETSNMS IYDILRPGTP REGFKTFSPR TSTIYDMYRT
   301  REPRVFKEDY VQKNTFGSTS LCFDSRQRSA LPATGHFTAR SLHFPATTQS KSGFIPPRHQ
   361  QSPKRTPLSS IIWNRSDSSR DRENQEEFLR APSPMEIDPA DKYVYPRGFQ ENKRYESYHS
   421  QNVYQRVSLN APMENAMSPD TFENSENMPF YHQSNTFTRS FFSNTFGRSG EQRRFGQGPF
   481  WGQEKGHSFW SDFHRSRKSF SSSDRDFEMI SMEANSVSAI HGHNVSSEHW ESFSSGYGTD
   541  VSRGQEEPHP WQFDFQRSTL DSMVVSHGNE TQLTPHFGTP NVCSMTGSSY HVKSSELVSQ
   601  QDSSPVEVHI NKEASSFGIA QTLASSFKTS FSQISDDRRN PQSPNLQNPT VTLQKIFPNK
   661  PASHPMRSHT EVTVTSSNSV DSLPLAKSQP NILVTEVNNE KDLNESISEE DKQLSKMDQT
   721  NKAGEIPQPV SQTGISNSLP DFQNPLSQDS AKSNGFGFNA STIISSKKSP RVFSRKDTSK
   781  MYIPHTDKSN DIKQDKRFTE NRKLGSTASL PFIQEHRTPP SFPRTDQGCH QELTVNNEDI
   841  SRIITNNHWS SALTDTQNAQ YSKCKLTPGH KTSCDSLDLS SAALPDSSPS KNSSLDAPVV
   901  PSTTVFSRRS PSDKDPSLGE REEKDNAGKN QKNQFIVSHS ENQERNDSPV PTHDEVVDVK
   961  CHSHSPFRNE RGKGKIRHHI SCIEKLSKTE SISVPTSDHR SLIEANQSNS KVSELDTIYC
  1021  TLPRKSSSFL IHGRQSGSKI MAASLRNGPP PFQIKNNVED AMGNYMLNKF SPSSPESANE
  1081  CSKVLSDSAL EAPEATERMT NVKSSGSTSV RKGPLPFLIN RAMSCPSGEP HASTGREGRK
  1141  KPLTSGMDAS ELTPRAWERI ISPVESDSSV RDCSLTKRQH QKENFQEYTE KEGKMAASRR
  1201  SVFALSNEDP LPFCSDLSGK ERGKTLHKVK TTSTFSVSGD EDNVKCLEVV SIYYTLPRKP
  1261  SKKFCNLLQQ YTQNTNLLIE SPQVETETFP NALEKDKQNY STREQSGTPS CENLKMSVNS
  1321  DQTLTTENMT AFRLSNRGPL APTLQEMASV EAAVSLPEEE SKAREIFSDN LAKTPLGDSE
  1381  NKKERGKKLQ SETLHTSLML QRKNVSEEKS ENCQQSINSS NSGPSSLPAL SEVNIGNSQT
  1441  RRSSWECTGS GRAIPFTGSG KCPQKDHTST AVGDGSSGSQ PREGRGDIGT NCQKMTNKTL
  1501  SHSESQVFAL TPALHKLQLG EETQSDEPNL ESLQSEPREL PQRSQEANMT ESRKAEDEMQ
  1561  KSAWDQPSLP EGNKNKTNLD DLVKGENRSS VKHRLAAMSK ASRKFPAKDV SPRRHVATIF
  1621  PQSGSRSGFD HLSLGTVECN PLFPEPTPKS AESIGESRLS ENGKHVKKSE NLLPITVLPN
  1681  REPSTHVSNQ KSNSISQRHQ NEFKNVSESP SKHENSKDVT AAQNLVRESG APSPITFTSL
  1741  REAEFSDNQR RLSPPFPLEP AQKSRVSSPL ASFLQQQRSA SSLEWEPEPH LYRSKSLKSI
  1801  NVHGDLLRKS HPPKVRERHF SESTSIDNAL SRLTLGNEFS VNNGYSRRFR SFSELPSCDG
  1861  NESWAYRSGT KTGPRSAISI YRPIDYGIFG KEQQLAFLEN VKRSLTQGRL WKPSFLKNPG
  1921  FLKDDLRNPP NPSESLSSNS PSSQVPEDGL SPSEPLNIYE DDPVDSDCDT DTTTDDEYYL
  1981  DENDKESEL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against EXPH5 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.66

Highest tissue expression

24 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about EXPH5.

Disease | AllUniProt

Conditions EXPH5 is implicated in, by any mechanism.

• Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive (EBS4) MIM:615028

Disease | GeneticClinVar

16 pathogenic / likely-pathogenic of 432 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive
• Inborn genetic diseases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.94

gnomAD pLI

0

gnomAD missense Z

-0.27

DepMap mean gene effect

0.06

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• intracellular protein transport
• keratinocyte development
• multivesicular body sorting pathway
• positive regulation of exocytosis
• positive regulation of protein secretion

Molecular functions

• small GTPase binding

Cellular components

• endosome

Protein domainsUniProt · Pfam · InterPro

• Rab-binding domain
• Exophilin-5

KeywordsUniProt

• Epidermolysis bullosa
• Phosphoprotein

InteractionsUniProt · HPA

Protein binding partners of EXPH5 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• RAB27A