SYTL5 synaptotagmin like 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SYTL5provided by HGNC
Official Full Name: synaptotagmin like 5provided by HGNC
Primary source: HGNC:HGNC:15589
See related: Ensembl:ENSG00000147041 MIM:301126; AllianceGenome:HGNC:15589
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: slp5
Summary: The protein encoded by this gene belongs to the synaptotagmin-like (Slp) protein family, which contains a unique homology domain at the N-terminus, referred to as the Slp homology domain (SHD). The SHD functions as a binding site for Rab27A, which plays a role in protein transport. Expression of this gene is restricted to placenta and liver, suggesting that it might be involved in Rab27A-dependent membrane trafficking in specific tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
Expression: Broad expression in stomach (RPKM 4.3), placenta (RPKM 2.5) and 17 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xp11.4

Exon count:: 26

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (37888915..38128820)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (37292501..37532417)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (37865806..37988073)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

SYTL5 Promotes Papillary Thyroid Carcinoma Progression by Enhancing Activation of the NF-kappaB Signaling Pathway.
Title: SYTL5 Promotes Papillary Thyroid Carcinoma Progression by Enhancing Activation of the NF-κB Signaling Pathway.
These observations decisively prove that Rab27a inhibits ENaC function through a complex mechanism that involves GTP/GDP status, and protein-protein interactions involving Munc13-4 and SLP-5 effector proteins.
Title: Rab27a regulates epithelial sodium channel (ENaC) activity through synaptotagmin-like protein (SLP-5) and Munc13-4 effector mechanism.
molecular cloning of slp5:a novel Rab27A effector with C-terminal tandem C2 domains
Title: Synaptotagmin-like protein 5: a novel Rab27A effector with C-terminal tandem C2 domains.
Synaptotagmin-like protein 5 (Slp5) contains an N-terminal Slp homology domain (SHD) (PMID: 11327731). The SHD of Slp5 specifically and directly binds the GTP-bound form of Rab27A.
Title: Synaptotagmin-like protein 5: a novel Rab27A effector with C-terminal tandem C2 domains.

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

EBI GWAS Catalog

Description
Genetic variants associated with disordered eating. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study to identify single nucleotide polymorphisms (SNPs) associated with the development of erectile dysfunction in African-American men after radiotherapy for prostate cancer. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

DXS1349 (e-PCR)
- UniSTS:99139

RH98374 (e-PCR)
- UniSTS:84153

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables neurexin family protein binding	IBA Inferred from Biological aspect of Ancestor more info
enables phospholipid binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables small GTPase binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in exocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular protein transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in exocytic vesicle	IBA Inferred from Biological aspect of Ancestor more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: synaptotagmin-like protein 5

Names: exophilin 9

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_013265.2 RefSeqGene

Range

122640..244903

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001163334.1 → NP_001156806.1 synaptotagmin-like protein 5 isoform 2

See identical proteins and their annotated locations for NP_001156806.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) contains an in-frame coding exon missing in variant 1, resulting in a longer isoform (2) with an additional 22 aa protein segment compared to isoform 1.

Source sequence(s)

AK125106, AL135038, BC131585, BX647688

Consensus CDS

CCDS55399.1

UniProtKB/Swiss-Prot

Q8TDW5

Related

ENSP00000395220.2, ENST00000456733.2

Conserved Domains (5) summary

cd04020
Location:566 → 744

C2B_SLP_1-2-3-4; C2 domain second repeat present in Synaptotagmin-like proteins 1-4

cd04029
Location:429 → 552

C2A_SLP-4_5; C2 domain first repeat present in Synaptotagmin-like proteins 4 and 5

cd15766
Location:62 → 108

FYVE_Slp5; FYVE-related domain found in synaptotagmin-like protein 5 (Slp5) and similar proteins

pfam15308
Location:159 → 309

CEP170_C; CEP170 C-terminus

cl22851
Location:11 → 123

PHD_SF; PHD finger superfamily
NM_001163335.2 → NP_001156807.1 synaptotagmin-like protein 5 isoform 1

See identical proteins and their annotated locations for NP_001156807.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (1).

Source sequence(s)

AB080222, AK125106, AL121578, AL135038, BX647688

Consensus CDS

CCDS14244.1

UniProtKB/Swiss-Prot

A2RRF2, Q8TDW5

Conserved Domains (3) summary

cd04020
Location:544 → 722

C2B_SLP_1-2-3-4; C2 domain second repeat present in Synaptotagmin-like proteins 1-4

cd04029
Location:407 → 530

C2A_SLP-4_5; C2 domain first repeat present in Synaptotagmin-like proteins 4 and 5

cd15766
Location:62 → 108

FYVE_Slp5; FYVE-related domain found in synaptotagmin-like protein 5 (Slp5) and similar proteins
NM_138780.3 → NP_620135.1 synaptotagmin-like protein 5 isoform 1

See identical proteins and their annotated locations for NP_620135.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the shorter isoform (1). Variants 1 and 2 encode the same isoform.

Source sequence(s)

AB080222, AK125106, AL121578, AL135038, BX647688

Consensus CDS

CCDS14244.1

UniProtKB/Swiss-Prot

A2RRF2, Q8TDW5

Related

ENSP00000297875.2, ENST00000297875.7

Conserved Domains (3) summary

cd04020
Location:544 → 722

C2B_SLP_1-2-3-4; C2 domain second repeat present in Synaptotagmin-like proteins 1-4

cd04029
Location:407 → 530

C2A_SLP-4_5; C2 domain first repeat present in Synaptotagmin-like proteins 4 and 5

cd15766
Location:62 → 108

FYVE_Slp5; FYVE-related domain found in synaptotagmin-like protein 5 (Slp5) and similar proteins

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

NC_000023.11 Reference GRCh38.p14 Primary Assembly

Range

37888915..38128820

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017029972.1 → XP_016885461.1 synaptotagmin-like protein 5 isoform X1

UniProtKB/Swiss-Prot

Q8TDW5

Conserved Domains (5) summary

cd04020
Location:566 → 744

C2B_SLP_1-2-3-4; C2 domain second repeat present in Synaptotagmin-like proteins 1-4

cd04029
Location:429 → 552

C2A_SLP-4_5; C2 domain first repeat present in Synaptotagmin-like proteins 4 and 5

cd15766
Location:62 → 108

FYVE_Slp5; FYVE-related domain found in synaptotagmin-like protein 5 (Slp5) and similar proteins

pfam15308
Location:159 → 309

CEP170_C; CEP170 C-terminus

cl22851
Location:11 → 123

PHD_SF; PHD finger superfamily
XM_047442658.1 → XP_047298614.1 synaptotagmin-like protein 5 isoform X3

UniProtKB/Swiss-Prot

A2RRF2, Q8TDW5
XM_011544001.3 → XP_011542303.1 synaptotagmin-like protein 5 isoform X1

See identical proteins and their annotated locations for XP_011542303.1

UniProtKB/Swiss-Prot

Q8TDW5

Conserved Domains (5) summary

cd04020
Location:566 → 744

C2B_SLP_1-2-3-4; C2 domain second repeat present in Synaptotagmin-like proteins 1-4

cd04029
Location:429 → 552

C2A_SLP-4_5; C2 domain first repeat present in Synaptotagmin-like proteins 4 and 5

cd15766
Location:62 → 108

FYVE_Slp5; FYVE-related domain found in synaptotagmin-like protein 5 (Slp5) and similar proteins

pfam15308
Location:159 → 309

CEP170_C; CEP170 C-terminus

cl22851
Location:11 → 123

PHD_SF; PHD finger superfamily
XM_047442654.1 → XP_047298610.1 synaptotagmin-like protein 5 isoform X3

UniProtKB/Swiss-Prot

A2RRF2, Q8TDW5
XM_047442663.1 → XP_047298619.1 synaptotagmin-like protein 5 isoform X4
XM_017029974.2 → XP_016885463.1 synaptotagmin-like protein 5 isoform X1

UniProtKB/Swiss-Prot

Q8TDW5

Conserved Domains (5) summary

cd04020
Location:566 → 744

C2B_SLP_1-2-3-4; C2 domain second repeat present in Synaptotagmin-like proteins 1-4

cd04029
Location:429 → 552

C2A_SLP-4_5; C2 domain first repeat present in Synaptotagmin-like proteins 4 and 5

cd15766
Location:62 → 108

FYVE_Slp5; FYVE-related domain found in synaptotagmin-like protein 5 (Slp5) and similar proteins

pfam15308
Location:159 → 309

CEP170_C; CEP170 C-terminus

cl22851
Location:11 → 123

PHD_SF; PHD finger superfamily
XM_047442655.1 → XP_047298611.1 synaptotagmin-like protein 5 isoform X3

UniProtKB/Swiss-Prot

A2RRF2, Q8TDW5
XM_047442669.1 → XP_047298625.1 synaptotagmin-like protein 5 isoform X5
XM_047442660.1 → XP_047298616.1 synaptotagmin-like protein 5 isoform X4
XM_047442652.1 → XP_047298608.1 synaptotagmin-like protein 5 isoform X1
XM_047442657.1 → XP_047298613.1 synaptotagmin-like protein 5 isoform X3

UniProtKB/Swiss-Prot

A2RRF2, Q8TDW5
XM_047442670.1 → XP_047298626.1 synaptotagmin-like protein 5 isoform X5
XM_047442666.1 → XP_047298622.1 synaptotagmin-like protein 5 isoform X4
XM_011544002.3 → XP_011542304.1 synaptotagmin-like protein 5 isoform X1

See identical proteins and their annotated locations for XP_011542304.1

UniProtKB/Swiss-Prot

Q8TDW5

Conserved Domains (5) summary

cd04020
Location:566 → 744

C2B_SLP_1-2-3-4; C2 domain second repeat present in Synaptotagmin-like proteins 1-4

cd04029
Location:429 → 552

C2A_SLP-4_5; C2 domain first repeat present in Synaptotagmin-like proteins 4 and 5

cd15766
Location:62 → 108

FYVE_Slp5; FYVE-related domain found in synaptotagmin-like protein 5 (Slp5) and similar proteins

pfam15308
Location:159 → 309

CEP170_C; CEP170 C-terminus

cl22851
Location:11 → 123

PHD_SF; PHD finger superfamily
XM_047442656.1 → XP_047298612.1 synaptotagmin-like protein 5 isoform X3

UniProtKB/Swiss-Prot

A2RRF2, Q8TDW5
XM_047442653.1 → XP_047298609.1 synaptotagmin-like protein 5 isoform X2
XM_047442664.1 → XP_047298620.1 synaptotagmin-like protein 5 isoform X4
XM_017029973.2 → XP_016885462.1 synaptotagmin-like protein 5 isoform X1

UniProtKB/Swiss-Prot

Q8TDW5

Conserved Domains (5) summary

cd04020
Location:566 → 744

C2B_SLP_1-2-3-4; C2 domain second repeat present in Synaptotagmin-like proteins 1-4

cd04029
Location:429 → 552

C2A_SLP-4_5; C2 domain first repeat present in Synaptotagmin-like proteins 4 and 5

cd15766
Location:62 → 108

FYVE_Slp5; FYVE-related domain found in synaptotagmin-like protein 5 (Slp5) and similar proteins

pfam15308
Location:159 → 309

CEP170_C; CEP170 C-terminus

cl22851
Location:11 → 123

PHD_SF; PHD finger superfamily
XM_047442659.1 → XP_047298615.1 synaptotagmin-like protein 5 isoform X3

UniProtKB/Swiss-Prot

A2RRF2, Q8TDW5
XM_047442665.1 → XP_047298621.1 synaptotagmin-like protein 5 isoform X4
XM_047442667.1 → XP_047298623.1 synaptotagmin-like protein 5 isoform X4
XM_047442662.1 → XP_047298618.1 synaptotagmin-like protein 5 isoform X4
XM_047442668.1 → XP_047298624.1 synaptotagmin-like protein 5 isoform X5
XM_047442661.1 → XP_047298617.1 synaptotagmin-like protein 5 isoform X4
XM_047442671.1 → XP_047298627.1 synaptotagmin-like protein 5 isoform X6

Alternate T2T-CHM13v2.0

Genomic

NC_060947.1 Alternate T2T-CHM13v2.0

Range

37292501..37532417

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054328146.1 → XP_054184121.1 synaptotagmin-like protein 5 isoform X1
XM_054328155.1 → XP_054184130.1 synaptotagmin-like protein 5 isoform X3

UniProtKB/Swiss-Prot

A2RRF2, Q8TDW5
XM_054328153.1 → XP_054184128.1 synaptotagmin-like protein 5 isoform X3

UniProtKB/Swiss-Prot

A2RRF2, Q8TDW5
XM_054328149.1 → XP_054184124.1 synaptotagmin-like protein 5 isoform X2
XM_054328162.1 → XP_054184137.1 synaptotagmin-like protein 5 isoform X4
XM_054328154.1 → XP_054184129.1 synaptotagmin-like protein 5 isoform X3

UniProtKB/Swiss-Prot

A2RRF2, Q8TDW5
XM_054328145.1 → XP_054184120.1 synaptotagmin-like protein 5 isoform X1
XM_054328158.1 → XP_054184133.1 synaptotagmin-like protein 5 isoform X4
XM_054328147.1 → XP_054184122.1 synaptotagmin-like protein 5 isoform X1
XM_054328159.1 → XP_054184134.1 synaptotagmin-like protein 5 isoform X4
XM_054328150.1 → XP_054184125.1 synaptotagmin-like protein 5 isoform X3

UniProtKB/Swiss-Prot

A2RRF2, Q8TDW5
XM_054328161.1 → XP_054184136.1 synaptotagmin-like protein 5 isoform X4
XM_054328165.1 → XP_054184140.1 synaptotagmin-like protein 5 isoform X5
XM_054328148.1 → XP_054184123.1 synaptotagmin-like protein 5 isoform X1
XM_054328166.1 → XP_054184141.1 synaptotagmin-like protein 5 isoform X5
XM_054328143.1 → XP_054184118.1 synaptotagmin-like protein 5 isoform X1
XM_054328151.1 → XP_054184126.1 synaptotagmin-like protein 5 isoform X3

UniProtKB/Swiss-Prot

A2RRF2, Q8TDW5
XM_054328163.1 → XP_054184138.1 synaptotagmin-like protein 5 isoform X4
XM_054328160.1 → XP_054184135.1 synaptotagmin-like protein 5 isoform X4
XM_054328152.1 → XP_054184127.1 synaptotagmin-like protein 5 isoform X3

UniProtKB/Swiss-Prot

A2RRF2, Q8TDW5
XM_054328144.1 → XP_054184119.1 synaptotagmin-like protein 5 isoform X1
XM_054328157.1 → XP_054184132.1 synaptotagmin-like protein 5 isoform X4
XM_054328164.1 → XP_054184139.1 synaptotagmin-like protein 5 isoform X5
XM_054328156.1 → XP_054184131.1 synaptotagmin-like protein 5 isoform X4
XM_054328167.1 → XP_054184142.1 synaptotagmin-like protein 5 isoform X6