Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | migraine | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:35115687 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | migraine | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:35115687 | |
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# | Reference Title | Reference Citation |
1. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
2. | Molecular cloning and functional expression of 5-HT1E-like rat and human 5-hydroxytryptamine receptor genes. | Lovenberg TW, etal., Proc Natl Acad Sci U S A 1993 Mar 15;90(6):2184-8. |
3. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:1328180 | PMID:2834384 | PMID:8380639 | PMID:9632173 | PMID:11888546 | PMID:11916537 | PMID:12477932 | PMID:12627464 | PMID:15190056 | PMID:15489334 | PMID:16254601 | PMID:16856120 |
PMID:18240029 | PMID:18577758 | PMID:19086053 | PMID:19156168 | PMID:19455600 | PMID:21422162 | PMID:21457069 | PMID:21873635 | PMID:28009296 | PMID:31542386 |
HTR1F (Homo sapiens - human) |
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Htr1f (Mus musculus - house mouse) |
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Htr1f (Rattus norvegicus - Norway rat) |
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Htr1f (Chinchilla lanigera - long-tailed chinchilla) |
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HTR1F (Pan paniscus - bonobo/pygmy chimpanzee) |
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HTR1F (Canis lupus familiaris - dog) |
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Htr1f (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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HTR1F (Sus scrofa - pig) |
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HTR1F (Chlorocebus sabaeus - green monkey) |
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Htr1f (Heterocephalus glaber - naked mole-rat) |
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Variants in HTR1F
13 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 3p12.2-11.1(chr3:82912987-90179222)x1 | copy number loss | See cases [RCV000051542] | Chr3:82912987..90179222 [GRCh38] Chr3:82962138..90228372 [GRCh37] Chr3:83044828..90311062 [NCBI36] Chr3:3p12.2-11.1 |
pathogenic |
GRCh38/hg38 3p12.2-11.1(chr3:83366150-88146360)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053959]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053959]|See cases [RCV000053959] | Chr3:83366150..88146360 [GRCh38] Chr3:83415301..88195510 [GRCh37] Chr3:83497991..88278200 [NCBI36] Chr3:3p12.2-11.1 |
uncertain significance |
GRCh38/hg38 3p12.3-11.1(chr3:76764260-89682935)x1 | copy number loss | See cases [RCV000135700] | Chr3:76764260..89682935 [GRCh38] Chr3:76813411..89732085 [GRCh37] Chr3:76896101..89814775 [NCBI36] Chr3:3p12.3-11.1 |
likely pathogenic |
GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1 | copy number loss | See cases [RCV000139626] | Chr3:57140424..90259960 [GRCh38] Chr3:57174452..90309110 [GRCh37] Chr3:57149492..90391800 [NCBI36] Chr3:3p14.3-11.1 |
pathogenic |
GRCh38/hg38 3p13-11.1(chr3:73824871-90453699)x1 | copy number loss | See cases [RCV000141881] | Chr3:73824871..90453699 [GRCh38] Chr3:73874022..90502849 [GRCh37] Chr3:73956712..90585539 [NCBI36] Chr3:3p13-11.1 |
pathogenic |
GRCh38/hg38 3p12.3-11.1(chr3:74649382-89495681)x1 | copy number loss | See cases [RCV000143665] | Chr3:74649382..89495681 [GRCh38] Chr3:74698533..89544831 [GRCh37] Chr3:74781223..89627521 [NCBI36] Chr3:3p12.3-11.1 |
pathogenic |
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 | copy number gain | See cases [RCV000511055] | Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) | copy number gain | See cases [RCV000512358] | Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
GRCh37/hg19 3p11.1(chr3:87969926-88963355)x3 | copy number gain | not provided [RCV000682283] | Chr3:87969926..88963355 [GRCh37] Chr3:3p11.1 |
uncertain significance |
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 | copy number gain | not provided [RCV000742133] | Chr3:60174..197948027 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 | copy number gain | not provided [RCV000742138] | Chr3:61495..197838262 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
GRCh37/hg19 3p11.2-11.1(chr3:87877640-88214146)x1 | copy number loss | not provided [RCV001259195] | Chr3:87877640..88214146 [GRCh37] Chr3:3p11.2-11.1 |
uncertain significance |
GRCh37/hg19 3p13-q12.1(chr3:72488757-99614758)x3 | copy number gain | not provided [RCV002221455] | Chr3:72488757..99614758 [GRCh37] Chr3:3p13-q12.1 |
likely pathogenic |
NM_001322209.2(HTR1F):c.257G>A (p.Arg86Lys) | single nucleotide variant | Inborn genetic diseases [RCV002859270] | Chr3:87991006 [GRCh38] Chr3:88040156 [GRCh37] Chr3:3p11.1 |
uncertain significance |
NM_001322209.2(HTR1F):c.896T>G (p.Leu299Trp) | single nucleotide variant | Inborn genetic diseases [RCV002794280] | Chr3:87991645 [GRCh38] Chr3:88040795 [GRCh37] Chr3:3p11.1 |
uncertain significance |
NM_001322209.2(HTR1F):c.736G>A (p.Val246Ile) | single nucleotide variant | Inborn genetic diseases [RCV002998375] | Chr3:87991485 [GRCh38] Chr3:88040635 [GRCh37] Chr3:3p11.1 |
uncertain significance |
NM_001322209.2(HTR1F):c.155G>A (p.Arg52Gln) | single nucleotide variant | Inborn genetic diseases [RCV002673086] | Chr3:87990904 [GRCh38] Chr3:88040054 [GRCh37] Chr3:3p11.1 |
uncertain significance |
NM_001322209.2(HTR1F):c.259G>C (p.Glu87Gln) | single nucleotide variant | Inborn genetic diseases [RCV003349291] | Chr3:87991008 [GRCh38] Chr3:88040158 [GRCh37] Chr3:3p11.1 |
uncertain significance |
NM_001322209.2(HTR1F):c.23A>G (p.Asp8Gly) | single nucleotide variant | Inborn genetic diseases [RCV003372178] | Chr3:87990772 [GRCh38] Chr3:88039922 [GRCh37] Chr3:3p11.1 |
uncertain significance |
NM_001322209.2(HTR1F):c.688C>T (p.Leu230Phe) | single nucleotide variant | Inborn genetic diseases [RCV003381068] | Chr3:87991437 [GRCh38] Chr3:88040587 [GRCh37] Chr3:3p11.1 |
uncertain significance |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
HTR1F_996 |
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RH46950 |
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RH68987 |
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HTR1F |
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UniSTS:481225 |
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alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | sensory system | adipose tissue | appendage | entire extraembryonic component | |
High | ||||||||||||||||
Medium | 2 | 1 | 7 | 1 | 4 | 8 | 5 | 1 | ||||||||
Low | 49 | 110 | 550 | 3 | 100 | 3 | 1373 | 65 | 752 | 114 | 374 | 664 | 2 | 951 | 649 | 1 |
Below cutoff | 1967 | 2266 | 698 | 251 | 997 | 96 | 2771 | 2014 | 2822 | 177 | 929 | 751 | 154 | 252 | 2029 |
RefSeq Transcripts | NM_000866 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001322208 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001322209 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001322210 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_005264751 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011533664 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054346412 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054346413 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | A74286 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AB037533 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC117513 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC119034 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC119733 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC132004 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF498981 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC069125 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC096838 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BX357988 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CA942616 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471110 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068275 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
L04962 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
L05597 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000319595 ⟹ ENSP00000322924 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_000866 ⟹ NP_000857 | ||||||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001322208 ⟹ NP_001309137 | ||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001322209 ⟹ NP_001309138 | ||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001322210 ⟹ NP_001309139 | ||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_005264751 ⟹ XP_005264808 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011533664 ⟹ XP_011531966 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_054346412 ⟹ XP_054202387 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054346413 ⟹ XP_054202388 | ||||||||
Type: | CODING | ||||||||
Position: |
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Protein RefSeqs | NP_000857 | (Get FASTA) | NCBI Sequence Viewer |
NP_001309137 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001309138 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001309139 | (Get FASTA) | NCBI Sequence Viewer | |
XP_005264808 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011531966 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054202387 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054202388 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAA36605 | (Get FASTA) | NCBI Sequence Viewer |
AAA36646 | (Get FASTA) | NCBI Sequence Viewer | |
AAH69125 | (Get FASTA) | NCBI Sequence Viewer | |
AAM21128 | (Get FASTA) | NCBI Sequence Viewer | |
BAA90453 | (Get FASTA) | NCBI Sequence Viewer | |
CAB58517 | (Get FASTA) | NCBI Sequence Viewer | |
EAW68865 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000322924 | ||
ENSP00000322924.4 | |||
GenBank Protein | P30939 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_000857 ⟸ NM_000866 |
- UniProtKB: | P30939 (UniProtKB/Swiss-Prot), Q9P2Q4 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_005264808 ⟸ XM_005264751 |
- Peptide Label: | isoform X1 |
- UniProtKB: | P30939 (UniProtKB/Swiss-Prot), Q9P2Q4 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_011531966 ⟸ XM_011533664 |
- Peptide Label: | isoform X1 |
- UniProtKB: | P30939 (UniProtKB/Swiss-Prot), Q9P2Q4 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001309138 ⟸ NM_001322209 |
- UniProtKB: | P30939 (UniProtKB/Swiss-Prot), Q9P2Q4 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001309139 ⟸ NM_001322210 |
- UniProtKB: | P30939 (UniProtKB/Swiss-Prot), Q9P2Q4 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001309137 ⟸ NM_001322208 |
- UniProtKB: | P30939 (UniProtKB/Swiss-Prot), Q9P2Q4 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSP00000322924 ⟸ ENST00000319595 |
RefSeq Acc Id: | XP_054202387 ⟸ XM_054346412 |
- Peptide Label: | isoform X1 |
- UniProtKB: | P30939 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_054202388 ⟸ XM_054346413 |
- Peptide Label: | isoform X1 |
- UniProtKB: | P30939 (UniProtKB/Swiss-Prot) |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P30939-F1-model_v2 | AlphaFold | P30939 | 1-366 | view protein structure |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:5292 | AgrOrtholog |
COSMIC | HTR1F | COSMIC |
Ensembl Genes | ENSG00000179097 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Transcript | ENST00000319595 | ENTREZGENE |
ENST00000319595.7 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | Rhodopsin 7-helix transmembrane proteins | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000179097 | GTEx |
HGNC ID | HGNC:5292 | ENTREZGENE |
Human Proteome Map | HTR1F | Human Proteome Map |
InterPro | 5HT1F_rcpt | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
5HT_rcpt | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
GPCR_Rhodpsn | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
GPCR_Rhodpsn_7TM | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:3355 | UniProtKB/Swiss-Prot |
NCBI Gene | 3355 | ENTREZGENE |
OMIM | 182134 | OMIM |
PANTHER | 5-HYDROXYTRYPTAMINE RECEPTOR | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR24247:SF34 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | 7tm_1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA29553 | PharmGKB |
PRINTS | 5HT1FRECEPTR | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
5HTRECEPTOR | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
GPCRRHODOPSN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PROSITE | G_PROTEIN_RECEP_F1_1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
G_PROTEIN_RECEP_F1_2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SMART | 7TM_GPCR_Srsx | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | Family A G protein-coupled receptor-like | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | 5HT1F_HUMAN | UniProtKB/Swiss-Prot, ENTREZGENE |
Q9P2Q4 | ENTREZGENE, UniProtKB/TrEMBL |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2016-02-10 | HTR1F | 5-hydroxytryptamine receptor 1F | 5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled | Symbol and/or name change | 5135510 | APPROVED | |
2012-02-14 | HTR1F | 5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled | HTR1F | 5-hydroxytryptamine (serotonin) receptor 1F | Symbol and/or name change | 5135510 | APPROVED |