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    EXPH5 exophilin 5 [ Homo sapiens (human) ]

    Gene ID: 23086, updated on 2-Nov-2024

    Summary

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    Official Symbol
    EXPH5provided by HGNC
    Official Full Name
    exophilin 5provided by HGNC
    Primary source
    HGNC:HGNC:30578
    See related
    Ensembl:ENSG00000110723 MIM:612878; AllianceGenome:HGNC:30578
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    EBS4; SLAC2B; SLAC2-B
    Summary
    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]
    Expression
    Biased expression in skin (RPKM 9.2), esophagus (RPKM 2.8) and 9 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See EXPH5 in Genome Data Viewer
    Location:
    11q22.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (108505435..108607536, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (108512926..108615040, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (108376162..108464495, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ATM serine/threonine kinase Neighboring gene MPRA-validated peak1451 silencer Neighboring gene chromosome 11 open reading frame 65 Neighboring gene MPRA-validated peak1452 silencer Neighboring gene MPRA-validated peak1453 silencer Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:108273376 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:108294773 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:108301322 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:108309656 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:108323261 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:108333620 Neighboring gene Sharpr-MPRA regulatory region 13200 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:108337475-108338327 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:108344264 Neighboring gene uncharacterized LOC124902749 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:108353409-108353587 Neighboring gene uncharacterized LOC112267909 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3878 Neighboring gene protein O-glucosyltransferase 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:108427339-108427512 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5488 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3879 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3880 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3881 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:108487156-108488355 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5489 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5490 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5491 Neighboring gene inversion(11)(p15q22) DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 recombination region Neighboring gene uncharacterized LOC124902750 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5492 Neighboring gene DEAD-box helicase 10 Neighboring gene ribosomal protein S2 pseudogene 39

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Revealing EXPH5 as a potential diagnostic gene biomarker of the late stage of COPD based on machine learning analysis. Yang Y, et al. Comput Biol Med, 2023 Mar. PMID 36746116
    2. Slac2-b Coordinates Extracellular Vesicle Secretion to Regulate Keratinocyte Adhesion and Migration. Bare Y, et al. J Invest Dermatol, 2021 Mar. PMID 32890627
    3. Molecular heterogeneity of epidermolysis bullosa simplex: contribution of EXPH5 mutations. Pigors M, et al. J Invest Dermatol, 2014 Mar. PMID 24005056
    4. Mutations in EXPH5 underlie a rare subtype of autosomal recessive epidermolysis bullosa simplex. Rashidghamat E, et al. Br J Dermatol, 2016 Feb. PMID 26211931
    5. Association of Epidermolysis Bullosa Simplex With Mottled Pigmentation and EXPH5 Mutations. Turcan I, et al. JAMA Dermatol, 2016 Oct 1. PMID 27384765

    See all (40) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Revealing EXPH5 as a potential diagnostic gene biomarker of the late stage of COPD based on machine learning analysis.
      Title: Revealing EXPH5 as a potential diagnostic gene biomarker of the late stage of COPD based on machine learning analysis.
    2. Slac2-b Coordinates Extracellular Vesicle Secretion to Regulate Keratinocyte Adhesion and Migration.
      Title: Slac2-b Coordinates Extracellular Vesicle Secretion to Regulate Keratinocyte Adhesion and Migration.
    3. SLAC2B-dependent microtubule acetylation regulates extracellular matrix-mediated intracellular TM4SF5 traffic to the plasma membranes.
      Title: SLAC2B-dependent microtubule acetylation regulates extracellular matrix-mediated intracellular TM4SF5 traffic to the plasma membranes.
    4. both mutations were homozygous and were predicted to result in the absence (EXPH5) or very low levels (COL17A1) of the corresponding protein products, with ultrastructural findings in the skin consistent with the presence of two subtypes, the simplex and the junctional forms, of the disease.
      Title: Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa.
    5. Mutations in EXPH5 protein, human have been implicated in the physiopathology of Epidermolysis bullosa simplex.
      Title: Association of Epidermolysis Bullosa Simplex With Mottled Pigmentation and EXPH5 Mutations.
    6. The results identify a further EXPH5 pedigree suggest that mutations in EXPH5 should be considered as a possible candidate gene for recessive or sporadic cases of mild generalized EBS.
      Title: Mutations in EXPH5 underlie a rare subtype of autosomal recessive epidermolysis bullosa simplex.
    7. Here, we report the second family with two EXPH5 mutations in epidermolysis bullosa simplex.
      Title: Molecular heterogeneity of epidermolysis bullosa simplex: contribution of EXPH5 mutations.
    8. our findings identify an unexpected role for Slac2-b in inherited skin fragility and expand the clinical spectrum of human disorders of GTPase effector proteins.
      Title: Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility.
    9. Slac2-b/KIAA0624 contains an N-terminal Slp homology domain (SHD) (PMID: 11327731). The SHD of Slac2-b specifically and directly binds the GTP-bound form of Rab27A (J. Biol. Chem. 277, (2002) 9212-9218; PMID: 11773082).
      Title: The Slp homology domain of synaptotagmin-like proteins 1-4 and Slac2 functions as a novel Rab27A binding domain.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Silencing of SLAC2B by shRNA inhibits HIV-1 replication in Jurkat cells PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Pr55(Gag) gag Silencing the expression of SLAC2B leads to a diffuse intracellular HIV-1 Gag staining pattern accompanied by a dramatic reduction in the association of Gag with the plasma membrane PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0624, MGC133291, MGC134967, DKFZp586F1223, DKFZp781H0795

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables small GTPase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in intracellular protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in keratinocyte development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in multivesicular body sorting pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in multivesicular body sorting pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of exocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of exocytosis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of protein secretion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of protein secretion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    exophilin-5
    Names
    slp homolog lacking C2 domains b
    synaptotagmin-like homologue lacking C2 domains b
    synaptotagmin-like protein homolog lacking C2 domains b

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_042852.2 RefSeqGene

      Range
      18768..107101
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001144763.2 → NP_001138235.1  exophilin-5 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) represents use of an alternate promoter and therefore differs in the 5' UTR and 5' coding region, compared to variant 1. These differences cause translation initiation at a downstream start codon and result in an isoform (4) with a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AL050204, AP002453, AP005718, BC117701, CR627226, KF455497
      UniProtKB/TrEMBL
      Q149M6
      Related
      ENSP00000432683.1, ENST00000526312.5

    2. NM_001144764.2 → NP_001138236.1  exophilin-5 isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) represents use of an alternate promoter and therefore differs in the 5' UTR and 5' coding region, compared to variant 1. These differences cause translation initiation at a downstream start codon and result in an isoform (5) with a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AK303993, AL050204, AP005718, BC117701, KF455497
      UniProtKB/TrEMBL
      Q149M6

    3. NM_001144765.2 → NP_001138237.1  exophilin-5 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents use of an alternate promoter and therefore differs in the 5' UTR and 5' coding region, compared to variant 1. These differences cause translation initiation at a downstream start codon and result in an isoform (3) with a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AI203086, AK304212, AL050204, AP005718, BC117701, KF455497
      UniProtKB/TrEMBL
      Q149M6

    4. NM_001308019.2 → NP_001294948.1  exophilin-5 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and uses an alternate exon in the 5' coding region that results in use of an alternate start codon compared to variant 1. It encodes isoform 2, which is shorter than and has a distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AB014524, AL050204, AP002453, AP005718, BC031034, BC117701, BU527461
      Consensus CDS
      CCDS76473.1
      UniProtKB/TrEMBL
      Q149M6
      Related
      ENSP00000432546.1, ENST00000525344.5
      Conserved Domains (1) summary
      cl22851
      Location:4 → 39
      PHD_SF; PHD finger superfamily

    5. NM_015065.3 → NP_055880.2  exophilin-5 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AI203086, AP002453, AP005718, BC117701, BP358360, KF455497
      Consensus CDS
      CCDS8341.1
      UniProtKB/Swiss-Prot
      Q2KHM1, Q8NEV8, Q9Y4D6
      UniProtKB/TrEMBL
      Q149M6
      Related
      ENSP00000265843.4, ENST00000265843.9
      Conserved Domains (1) summary
      cl22851
      Location:11 → 46
      PHD_SF; PHD finger superfamily

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      108505435..108607536 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017017398.2 → XP_016872887.2  exophilin-5 isoform X2

    2. XM_017017397.2 → XP_016872886.2  exophilin-5 isoform X1

    3. XM_047426624.1 → XP_047282580.1  exophilin-5 isoform X3

    4. XM_011542696.3 → XP_011540998.1  exophilin-5 isoform X4

      See identical proteins and their annotated locations for XP_011540998.1

      UniProtKB/TrEMBL
      Q149M6

    5. XM_047426627.1 → XP_047282583.1  exophilin-5 isoform X4

    6. XM_011542700.3 → XP_011541002.1  exophilin-5 isoform X4

      See identical proteins and their annotated locations for XP_011541002.1

      UniProtKB/TrEMBL
      Q149M6

    7. XM_017017400.2 → XP_016872889.1  exophilin-5 isoform X4

      UniProtKB/TrEMBL
      Q149M6

    8. XM_047426626.1 → XP_047282582.1  exophilin-5 isoform X4

    9. XM_011542698.3 → XP_011541000.1  exophilin-5 isoform X4

      See identical proteins and their annotated locations for XP_011541000.1

      UniProtKB/TrEMBL
      Q149M6

    10. XM_047426629.1 → XP_047282585.1  exophilin-5 isoform X7

    11. XM_047426628.1 → XP_047282584.1  exophilin-5 isoform X5

    12. XM_017017403.2 → XP_016872892.1  exophilin-5 isoform X6

      UniProtKB/TrEMBL
      Q149M6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      108512926..108615040 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054368126.1 → XP_054224101.1  exophilin-5 isoform X8

    2. XM_054368125.1 → XP_054224100.1  exophilin-5 isoform X4

    3. XM_054368128.1 → XP_054224103.1  exophilin-5 isoform X3

    4. XM_054368127.1 → XP_054224102.1  exophilin-5 isoform X9

    5. XM_054368134.1 → XP_054224109.1  exophilin-5 isoform X4

    6. XM_054368131.1 → XP_054224106.1  exophilin-5 isoform X4

    7. XM_054368129.1 → XP_054224104.1  exophilin-5 isoform X4

    8. XM_054368132.1 → XP_054224107.1  exophilin-5 isoform X4

    9. XM_054368130.1 → XP_054224105.1  exophilin-5 isoform X4

    10. XM_054368133.1 → XP_054224108.1  exophilin-5 isoform X4

    11. XM_054368137.1 → XP_054224112.1  exophilin-5 isoform X7

    12. XM_054368135.1 → XP_054224110.1  exophilin-5 isoform X5

    13. XM_054368136.1 → XP_054224111.1  exophilin-5 isoform X6

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NEV8.4 GenPept UniProtKB/Swiss-Prot:Q8NEV8

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