• Gene id: 23086

Gene Summary

• Gene Symbol: EXPH5   Gene   UCSC   Ensembl
• Aliases: SLAC2-B, SLAC2B
• Gene name: exophilin 5
• Alternate names: exophilin-5, slp homolog lacking C2 domains b, synaptotagmin-like homologue lacking C2 domains b, synaptotagmin-like protein homolog lacking C2 domains b,
• Gene location: 11q22.3 (69962085: 69853273)     Exons: 12     NC_000018.10
• Gene summary(Entrez): 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 tho
• OMIM: 612878

Protein Summary

• Protein general information: Q8NEV8  
  • Name: Exophilin 5 (Synaptotagmin like protein homolog lacking C2 domains b) (SlaC2 b) (Slp homolog lacking C2 domains b)
  • Length: 1989  
  • Mass: 222519
  • Tissue specificity: Expressed in keratinocytes. {ECO
• Sequence:

  MTKVPPAFDFSFLNDEEARKILQVLERNEELQRAEKDRISKLQKTKRDIRWLQGVTGEWFEEIQRKKFCNETDVS
  QMLKQPLTYRLSKEMAKNDPIELPTSRSKNVTNQKKPTPFSSRMSFRSSFASLFSFRKSGKETSKLPSLGQKGCD
  GHAGPPMPVRGAAVQAKIYNSPLENHLVDSTFVPKPAVMREESGMPPPWDASLLENEFFQVLDDLDSKLAQEQSA
  SSVNTRTPLNYGSRTQFGHFYSSGNRHGNITERHKKHYNETSNMSIYDILRPGTPREGFKTFSPRTSTIYDMYRT
  REPRVFKEDYVQKNTFGSTSLCFDSRQRSALPATGHFTARSLHFPATTQSKSGFIPPRHQQSPKRTPLSSIIWNR
  SDSSRDRENQEEFLRAPSPMEIDPADKYVYPRGFQENKRYESYHSQNVYQRVSLNAPMENAMSPDTFENSENMPF
  YHQSNTFTRSFFSNTFGRSGEQRRFGQGPFWGQEKGHSFWSDFHRSRKSFSSSDRDFEMISMEANSVSAIHGHNV
  SSEHWESFSSGYGTDVSRGQEEPHPWQFDFQRSTLDSMVVSHGNETQLTPHFGTPNVCSMTGSSYHVKSSELVSQ
  QDSSPVEVHINKEASSFGIAQTLASSFKTSFSQISDDRRNPQSPNLQNPTVTLQKIFPNKPASHPMRSHTEVTVT
  SSNSVDSLPLAKSQPNILVTEVNNEKDLNESISEEDKQLSKMDQTNKAGEIPQPVSQTGISNSLPDFQNPLSQDS
  AKSNGFGFNASTIISSKKSPRVFSRKDTSKMYIPHTDKSNDIKQDKRFTENRKLGSTASLPFIQEHRTPPSFPRT
  DQGCHQELTVNNEDISRIITNNHWSSALTDTQNAQYSKCKLTPGHKTSCDSLDLSSAALPDSSPSKNSSLDAPVV
  PSTTVFSRRSPSDKDPSLGEREEKDNAGKNQKNQFIVSHSENQERNDSPVPTHDEVVDVKCHSHSPFRNERGKGK
  IRHHISCIEKLSKTESISVPTSDHRSLIEANQSNSKVSELDTIYCTLPRKSSSFLIHGRQSGSKIMAASLRNGPP
  PFQIKNNVEDAMGNYMLNKFSPSSPESANECSKVLSDSALEAPEATERMTNVKSSGSTSVRKGPLPFLINRAMSC
  PSGEPHASTGREGRKKPLTSGMDASELTPRAWERIISPVESDSSVRDCSLTKRQHQKENFQEYTEKEGKMAASRR
  SVFALSNEDPLPFCSDLSGKERGKTLHKVKTTSTFSVSGDEDNVKCLEVVSIYYTLPRKPSKKFCNLLQQYTQNT
  NLLIESPQVETETFPNALEKDKQNYSTREQSGTPSCENLKMSVNSDQTLTTENMTAFRLSNRGPLAPTLQEMASV
  EAAVSLPEEESKAREIFSDNLAKTPLGDSENKKERGKKLQSETLHTSLMLQRKNVSEEKSENCQQSINSSNSGPS
  SLPALSEVNIGNSQTRRSSWECTGSGRAIPFTGSGKCPQKDHTSTAVGDGSSGSQPREGRGDIGTNCQKMTNKTL
  SHSESQVFALTPALHKLQLGEETQSDEPNLESLQSEPRELPQRSQEANMTESRKAEDEMQKSAWDQPSLPEGNKN
  KTNLDDLVKGENRSSVKHRLAAMSKASRKFPAKDVSPRRHVATIFPQSGSRSGFDHLSLGTVECNPLFPEPTPKS
  AESIGESRLSENGKHVKKSENLLPITVLPNREPSTHVSNQKSNSISQRHQNEFKNVSESPSKHENSKDVTAAQNL
  VRESGAPSPITFTSLREAEFSDNQRRLSPPFPLEPAQKSRVSSPLASFLQQQRSASSLEWEPEPHLYRSKSLKSI
  NVHGDLLRKSHPPKVRERHFSESTSIDNALSRLTLGNEFSVNNGYSRRFRSFSELPSCDGNESWAYRSGTKTGPR
  SAISIYRPIDYGIFGKEQQLAFLENVKRSLTQGRLWKPSFLKNPGFLKDDLRNPPNPSESLSSNSPSSQVPEDGL
  SPSEPLNIYEDDPVDSNCDTDTTTDDEYYLDENDKESEL

• Structural information:
  • Protein Domains: (7..6-)
    (/note="RabBD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00234"-)
  • Interpro: IPR039916  IPR010911  
  • Prosite: PS50916
  • STRING: ENSP00000265843
• Other Databases: GeneCards:  EXPH5  Malacards:  EXPH5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045921	positive regulation of exocytosis	IBA	biological process
GO:0050714	positive regulation of protein secretion	IBA	biological process
GO:0005768	endosome	IBA	cellular component
GO:0017137	Rab GTPase binding	IBA	molecular function
GO:0071985	multivesicular body sorting pathway	IBA	biological process
GO:0003334	keratinocyte development	IMP	biological process
GO:0017137	Rab GTPase binding	IEA	molecular function
GO:0006886	intracellular protein transport	IEA	biological process
GO:0005768	endosome	IDA	cellular component
GO:0071985	multivesicular body sorting pathway	IMP	biological process
GO:0017137	Rab GTPase binding	IPI	molecular function
GO:0017137	Rab GTPase binding	IPI	molecular function
GO:0050714	positive regulation of protein secretion	IMP	biological process
GO:0045921	positive regulation of exocytosis	IMP	biological process

Diseases

Associated diseases	References
Epidermolysis bullosa simplex	KEGG:H00584
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881