EXPH5 exophilin 5 [Homo sapiens (human)] - Gene

Summary

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

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_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.

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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

Associated conditions

Description	Tests
Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive MedGen: C3554367 OMIM: 615028 GeneReviews: Epidermolysis Bullosa Simplex	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

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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

SHGC-82695 (e-PCR)
- UniSTS:102409

D11S2921 (e-PCR)
- UniSTS:152074

SHGC-52610 (e-PCR)
- UniSTS:27413

D10S275 (e-PCR)
- UniSTS:147992

D8S2279 (e-PCR)
- UniSTS:473907

D11S4669 (e-PCR)
- UniSTS:21565

GDB:314949 (e-PCR)
- UniSTS:156503

L17709 (e-PCR)
- UniSTS:42599

D15S1477 (e-PCR)
- UniSTS:474482

D1S1423 (e-PCR)
- UniSTS:149619

D11S1294 (e-PCR)
- UniSTS:44420

STS-N32319 (e-PCR)
- UniSTS:79770

STS-T89299 (e-PCR)
- UniSTS:676

SHGC-80937 (e-PCR)
- UniSTS:102571

L18441 (e-PCR)
- UniSTS:71348

SLAC2-B__5426 (e-PCR)
- UniSTS:464097

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

NG_042852.2 RefSeqGene

Range

18768..107101

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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
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