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HTR4 5-hydroxytryptamine receptor 4 [ Homo sapiens (human) ]

Gene ID: 3360, updated on 3-Feb-2020

Summary

Official Symbol
HTR4provided by HGNC
Official Full Name
5-hydroxytryptamine receptor 4provided by HGNC
Primary source
HGNC:HGNC:5299
See related
Ensembl:ENSG00000164270 MIM:602164
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
5-HT4; 5-HT4R
Summary
This gene is a member of the family of serotonin receptors, which are G protein coupled receptors that stimulate cAMP production in response to serotonin (5-hydroxytryptamine). The gene product is a glycosylated transmembrane protein that functions in both the peripheral and central nervous system to modulate the release of various neurotransmitters. Multiple transcript variants encoding proteins with distinct C-terminal sequences have been described. [provided by RefSeq, May 2010]
Expression
Biased expression in small intestine (RPKM 2.1), duodenum (RPKM 1.1) and 5 other tissues See more
Orthologs

Genomic context

See HTR4 in Genome Data Viewer
Location:
5q32
Exon count:
12
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (148451032..148654527, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (147830595..148034090, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102546294 Neighboring gene serine peptidase inhibitor Kazal type 9 Neighboring gene PRELI domain containing 3B pseudogene 9 Neighboring gene F-box protein 38 Neighboring gene uncharacterized LOC107986462 Neighboring gene uncharacterized LOC105378221 Neighboring gene adrenoceptor beta 2 Neighboring gene SH3 domain and tetratricopeptide repeats 2 Neighboring gene RNA, U6 small nuclear 732, pseudogene

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?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.
NHGRI GWA Catalog
Genome-wide association study identifies five loci associated with lung function.
NHGRI GWA Catalog
Genome-wide association study of periodontal pathogen colonization.
NHGRI GWA Catalog
Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.
NHGRI GWA Catalog
Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.
NHGRI GWA Catalog

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of 5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled (HTR4) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: SH3TC2

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
G protein-coupled receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
G protein-coupled serotonin receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
G protein-coupled serotonin receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
neurotransmitter receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
 
G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
G protein-coupled serotonin receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
chemical synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of appetite IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
dendrite IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endosome IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
synapse IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
5-hydroxytryptamine receptor 4
Names
5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled
5-hydroxytryptamine receptor 4 transcript variant b2
5-hydroxytryptamine receptor 4 transcript variant b3
cardiac 5-HT4 receptor

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_029052.1 RefSeqGene

    Range
    4650..177625
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000870.7NP_000861.1  5-hydroxytryptamine receptor 4 isoform b

    See identical proteins and their annotated locations for NP_000861.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (b) encodes the longest isoform (b).
    Source sequence(s)
    AC008627, AC091971, AJ131724, DR000612
    Consensus CDS
    CCDS4291.1
    UniProtKB/Swiss-Prot
    Q13639
    UniProtKB/TrEMBL
    A0A2D3FAF9
    Related
    ENSP00000367120.3, ENST00000377888.7
    Conserved Domains (1) summary
    cd15056
    Location:20323
    7tmA_5-HT4; serotonin receptor subtype 4, member of the class A family of seven-transmembrane G protein-coupled receptors
  2. NM_001040169.2NP_001035259.1  5-hydroxytryptamine receptor 4 isoform a

    See identical proteins and their annotated locations for NP_001035259.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (a) differs in the 5' UTR, 3' coding region and 3' UTR, compared to variant b. The resulting isoform (a) has a distinct C-terminus and is shorter than isoform b.
    Source sequence(s)
    AC114939, AJ131724, AJ278979, Y08756
    Consensus CDS
    CCDS34270.1
    UniProtKB/Swiss-Prot
    Q13639
    Related
    ENSP00000428320.1, ENST00000521530.5
    Conserved Domains (1) summary
    pfam00001
    Location:36312
    7tm_1; 7 transmembrane receptor (rhodopsin family)
  3. NM_001040172.2NP_001035262.2  5-hydroxytryptamine receptor 4 isoform d

    See identical proteins and their annotated locations for NP_001035262.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (d) differs in the 5' UTR and uses an alternate 3' terminal exon compared to variant b. The encoded isoform (d) has a distinct C-terminus and is shorter than isoform b.
    Source sequence(s)
    AC091971, AJ131724, Y12507
    Consensus CDS
    CCDS34273.2
    UniProtKB/Swiss-Prot
    Q13639
    Related
    ENSP00000435904.1, ENST00000517929.5
    Conserved Domains (1) summary
    pfam00001
    Location:36312
    7tm_1; 7 transmembrane receptor (rhodopsin family)
  4. NM_001040173.2NP_001035263.1  5-hydroxytryptamine receptor 4 isoform i

    See identical proteins and their annotated locations for NP_001035263.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (i) differs in the 5' UTR and includes an alternate in-frame exon, compared to variant b. This results in a longer protein (isoform i), compared to isoform b.
    Source sequence(s)
    AC091971, AJ131724, AJ131726
    Consensus CDS
    CCDS34272.1
    UniProtKB/Swiss-Prot
    Q13639
    Related
    ENSP00000355037.3, ENST00000362016.6
    Conserved Domains (1) summary
    pfam00001
    Location:36312
    7tm_1; 7 transmembrane receptor (rhodopsin family)
  5. NM_001286410.1NP_001273339.1  5-hydroxytryptamine receptor 4 isoform c

    See identical proteins and their annotated locations for NP_001273339.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (c) has a shorter 5' UTR and uses an alternate exon in the 3' UTR and coding region. The encoded isoform (c) is shorter and has a distinct C-terminus compared to isoform b.
    Source sequence(s)
    AC008627, AM712912, Y12506
    Consensus CDS
    CCDS75353.1
    UniProtKB/Swiss-Prot
    Q13639
    Related
    ENSP00000427913.1, ENST00000520514.5
    Conserved Domains (2) summary
    pfam00001
    Location:36312
    7tm_1; 7 transmembrane receptor (rhodopsin family)
    cl21561
    Location:26215
    7tm_4; Olfactory receptor
  6. NM_199453.3NP_955525.1  5-hydroxytryptamine receptor 4 isoform g

    See identical proteins and their annotated locations for NP_955525.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (g), also known as E or G1, differs in the 5' UTR, 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (isoform g) has a distinct C-terminus and is shorter than isoform b.
    Source sequence(s)
    AC114939, AJ011371, AJ131724, AJ278981, Y08756
    Consensus CDS
    CCDS34271.1
    UniProtKB/Swiss-Prot
    Q13639
    Related
    ENSP00000430979.1, ENST00000521735.5
    Conserved Domains (1) summary
    pfam00001
    Location:36312
    7tm_1; 7 transmembrane receptor (rhodopsin family)

RNA

  1. NR_104445.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (j) uses an alternate exon at the 3' end compared to variant b. This variant (j) is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC008627, AC091971, AK308471

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    148451032..148654527 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001040174.1: Suppressed sequence

    Description
    NM_001040174.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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