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EXPH5 exophilin 5 [ Homo sapiens (human) ]

Gene ID: 23086, updated on 11-Sep-2019

Summary

Official Symbol
EXPH5provided by HGNC
Official Full Name
exophilin 5provided by HGNC
Primary source
HGNC:HGNC:30578
See related
Ensembl:ENSG00000110723 MIM:612878
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
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

Genomic context

See EXPH5 in Genome Data Viewer
Location:
11q22.3
Exon count:
13
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (108505431..108607514, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (108376158..108464492, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC112267909 Neighboring gene protein O-glucosyltransferase 3 Neighboring gene uncharacterized LOC101928561 Neighboring gene inversion(11)(p15q22) DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 recombination region Neighboring gene DEAD-box helicase 10 Neighboring gene ribosomal protein S2 pseudogene 39

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

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 BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0624, MGC133291, MGC134967, DKFZp586F1223, DKFZp781H0795

Gene Ontology Provided by GOA

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

General protein information

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)

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_042852.1 RefSeqGene

    Range
    4971..93304
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001144763.2NP_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, Q6AI59
    Related
    ENSP00000432683.1, ENST00000526312.5
  2. NM_001144764.2NP_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
    B4E1U8, B4E2C3, Q149M6
  3. NM_001144765.2NP_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
    B4E2C3, Q149M6
  4. NM_001308019.2NP_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/Swiss-Prot
    Q8NEV8
    UniProtKB/TrEMBL
    Q149M6
    Related
    ENSP00000432546.1, ENST00000525344.5
    Conserved Domains (1) summary
    cl22851
    Location:439
    PHD_SF; PHD finger superfamily
  5. NM_015065.3NP_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/TrEMBL
    Q149M6
    Related
    ENSP00000265843.4, ENST00000265843.9
    Conserved Domains (1) summary
    cl22851
    Location:1146
    PHD_SF; PHD finger superfamily

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    108505431..108607514 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

  2. XM_017017397.1XP_016872886.1  exophilin-5 isoform X1

  3. XM_011542696.2XP_011540998.1  exophilin-5 isoform X1

    See identical proteins and their annotated locations for XP_011540998.1

  4. XM_017017404.1XP_016872893.1  exophilin-5 isoform X5

  5. XM_017017401.1XP_016872890.1  exophilin-5 isoform X2

  6. XM_011542700.2XP_011541002.1  exophilin-5 isoform X1

    See identical proteins and their annotated locations for XP_011541002.1

  7. XM_017017402.1XP_016872891.1  exophilin-5 isoform X3

  8. XM_017017400.1XP_016872889.1  exophilin-5 isoform X1

  9. XM_011542698.2XP_011541000.1  exophilin-5 isoform X1

    See identical proteins and their annotated locations for XP_011541000.1

  10. XM_017017399.1XP_016872888.1  exophilin-5 isoform X1

  11. XM_017017403.1XP_016872892.1  exophilin-5 isoform X4

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