IQCF1 (IQ motif containing F1) - Rat Genome Database

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Gene: IQCF1 (IQ motif containing F1) Homo sapiens
Analyze
Symbol: IQCF1
Name: IQ motif containing F1
RGD ID: 1348129
HGNC Page HGNC:28607
Description: Predicted to enable calmodulin binding activity. Predicted to be involved in positive regulation of acrosome reaction and positive regulation of flagellated sperm motility involved in capacitation. Located in acrosomal vesicle.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FLJ27508; IQ domain-containing protein F1; MGC39725
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: AC025030.1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38351,894,876 - 51,903,353 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl351,894,876 - 51,903,353 (-)EnsemblGRCh38hg38GRCh38
GRCh37351,928,892 - 51,937,369 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36351,903,932 - 51,912,391 (-)NCBINCBI36Build 36hg18NCBI36
Build 34351,903,932 - 51,912,391NCBI
Celera351,907,728 - 51,916,218 (-)NCBICelera
Cytogenetic Map3p21.2NCBI
HuRef351,992,583 - 52,001,072 (-)NCBIHuRef
CHM1_1351,881,593 - 51,890,082 (-)NCBICHM1_1
T2T-CHM13v2.0351,927,807 - 51,936,279 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
Additional References at PubMed
PMID:15489334   PMID:17207965   PMID:21873635   PMID:25380116   PMID:26186194   PMID:28514442   PMID:32814053   PMID:33961781   PMID:34349018  


Genomics

Comparative Map Data
IQCF1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38351,894,876 - 51,903,353 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl351,894,876 - 51,903,353 (-)EnsemblGRCh38hg38GRCh38
GRCh37351,928,892 - 51,937,369 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36351,903,932 - 51,912,391 (-)NCBINCBI36Build 36hg18NCBI36
Build 34351,903,932 - 51,912,391NCBI
Celera351,907,728 - 51,916,218 (-)NCBICelera
Cytogenetic Map3p21.2NCBI
HuRef351,992,583 - 52,001,072 (-)NCBIHuRef
CHM1_1351,881,593 - 51,890,082 (-)NCBICHM1_1
T2T-CHM13v2.0351,927,807 - 51,936,279 (-)NCBIT2T-CHM13v2.0
Iqcf1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm399106,377,166 - 106,379,449 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl9106,377,166 - 106,379,453 (+)EnsemblGRCm39 Ensembl
GRCm389106,499,967 - 106,502,250 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl9106,499,967 - 106,502,254 (+)EnsemblGRCm38mm10GRCm38
MGSCv379106,402,298 - 106,404,581 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv369106,358,083 - 106,360,352 (+)NCBIMGSCv36mm8
Celera9106,118,274 - 106,120,561 (+)NCBICelera
Cytogenetic Map9F1NCBI
cM Map957.65NCBI
Iqcf1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr88116,008,081 - 116,011,950 (+)NCBIGRCr8
mRatBN7.28107,129,462 - 107,133,242 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl8107,130,704 - 107,133,249 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx8112,753,894 - 112,756,362 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.08110,953,070 - 110,955,538 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.08108,795,852 - 108,798,320 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.08115,191,919 - 115,195,599 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl8115,193,146 - 115,195,668 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.08114,556,972 - 114,559,887 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.48111,635,585 - 111,638,080 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera8106,442,644 - 106,445,131 (+)NCBICelera
Cytogenetic Map8q32NCBI
LOC102021703
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049555323,559,990 - 3,561,238 (-)NCBIChiLan1.0ChiLan1.0
IQCF1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2251,890,290 - 51,927,780 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1351,882,930 - 51,905,753 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0351,836,683 - 51,847,503 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1353,068,288 - 53,076,768 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl353,068,302 - 53,076,490 (-)Ensemblpanpan1.1panPan2
IQCF1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12037,797,253 - 37,799,110 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2037,797,325 - 37,799,110 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2037,777,288 - 37,779,145 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02038,146,404 - 38,148,261 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2038,146,476 - 38,148,261 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12037,510,001 - 37,511,858 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02037,918,928 - 37,920,765 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02038,203,853 - 38,205,711 (+)NCBIUU_Cfam_GSD_1.0
LOC101959243
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560266,502,800 - 66,504,791 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049365293,263,311 - 3,266,991 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
IQCF1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1334,057,164 - 34,060,951 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11334,057,694 - 34,059,552 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21337,254,232 - 37,255,986 (-)NCBISscrofa10.2Sscrofa10.2susScr3
IQCF1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12213,264,183 - 13,271,409 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2213,264,197 - 13,270,856 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666041153,634,100 - 153,670,754 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
LOC101714413
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247305,706,146 - 5,706,571 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in IQCF1
11 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1 copy number loss See cases [RCV000051511] Chr3:49461000..55314500 [GRCh38]
Chr3:49498433..55348528 [GRCh37]
Chr3:49473437..55323568 [NCBI36]
Chr3:3p21.31-14.3		 pathogenic
GRCh38/hg38 3p21.2-14.3(chr3:51394434-55064449)x1 copy number loss See cases [RCV000143631] Chr3:51394434..55064449 [GRCh38]
Chr3:51431865..55098476 [GRCh37]
Chr3:51406905..55073516 [NCBI36]
Chr3:3p21.2-14.3		 likely 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 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 3p21.31-21.1(chr3:45153770-53878616) copy number gain not provided [RCV000767704] Chr3:45153770..53878616 [GRCh37]
Chr3:3p21.31-21.1		 pathogenic
GRCh37/hg19 3p21.2-21.1(chr3:51247306-53069942)x3 copy number gain not provided [RCV001005434] Chr3:51247306..53069942 [GRCh37]
Chr3:3p21.2-21.1		 uncertain significance
NM_152397.3(IQCF1):c.340C>T (p.Arg114Trp) single nucleotide variant not specified [RCV004122718] Chr3:51895168 [GRCh38]
Chr3:51929184 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_152397.3(IQCF1):c.209C>T (p.Thr70Met) single nucleotide variant not specified [RCV004166007] Chr3:51895299 [GRCh38]
Chr3:51929315 [GRCh37]
Chr3:3p21.2		 likely benign
NM_152397.3(IQCF1):c.422G>A (p.Arg141His) single nucleotide variant not specified [RCV004210573] Chr3:51895086 [GRCh38]
Chr3:51929102 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_152397.3(IQCF1):c.481C>T (p.Arg161Cys) single nucleotide variant not specified [RCV004184082] Chr3:51895027 [GRCh38]
Chr3:51929043 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_152397.3(IQCF1):c.409A>C (p.Met137Leu) single nucleotide variant not specified [RCV004210930] Chr3:51895099 [GRCh38]
Chr3:51929115 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_152397.3(IQCF1):c.113A>C (p.Lys38Thr) single nucleotide variant not specified [RCV004146207] Chr3:51896890 [GRCh38]
Chr3:51930906 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_152397.3(IQCF1):c.26C>T (p.Thr9Met) single nucleotide variant not specified [RCV004081461] Chr3:51903067 [GRCh38]
Chr3:51937083 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_152397.3(IQCF1):c.440T>G (p.Val147Gly) single nucleotide variant not specified [RCV004279907] Chr3:51895068 [GRCh38]
Chr3:51929084 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_152397.3(IQCF1):c.227A>T (p.Gln76Leu) single nucleotide variant not specified [RCV004316500] Chr3:51895281 [GRCh38]
Chr3:51929297 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_152397.3(IQCF1):c.602T>A (p.Phe201Tyr) single nucleotide variant not specified [RCV004323306] Chr3:51894906 [GRCh38]
Chr3:51928922 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_152397.3(IQCF1):c.114A>C (p.Lys38Asn) single nucleotide variant not specified [RCV004358721] Chr3:51896889 [GRCh38]
Chr3:51930905 [GRCh37]
Chr3:3p21.2		 uncertain significance
GRCh37/hg19 3p21.2-14.2(chr3:51149374-59265315)x1 copy number loss not specified [RCV003986409] Chr3:51149374..59265315 [GRCh37]
Chr3:3p21.2-14.2		 pathogenic
NM_152397.3(IQCF1):c.104C>A (p.Ala35Glu) single nucleotide variant not specified [RCV004400852] Chr3:51902989 [GRCh38]
Chr3:51937005 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_152397.3(IQCF1):c.121G>T (p.Val41Phe) single nucleotide variant not specified [RCV004400853] Chr3:51896882 [GRCh38]
Chr3:51930898 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_152397.3(IQCF1):c.253C>T (p.Arg85Cys) single nucleotide variant not specified [RCV004400856] Chr3:51895255 [GRCh38]
Chr3:51929271 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_152397.3(IQCF1):c.202A>G (p.Lys68Glu) single nucleotide variant not specified [RCV004400855] Chr3:51895306 [GRCh38]
Chr3:51929322 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_152397.3(IQCF1):c.308G>A (p.Arg103Gln) single nucleotide variant not specified [RCV004400857] Chr3:51895200 [GRCh38]
Chr3:51929216 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_152397.3(IQCF1):c.515A>G (p.Gln172Arg) single nucleotide variant not specified [RCV004400860] Chr3:51894993 [GRCh38]
Chr3:51929009 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_152397.3(IQCF1):c.193C>T (p.Leu65Phe) single nucleotide variant not specified [RCV004400854] Chr3:51895315 [GRCh38]
Chr3:51929331 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_152397.3(IQCF1):c.455G>T (p.Arg152Leu) single nucleotide variant not specified [RCV004400859] Chr3:51895053 [GRCh38]
Chr3:51929069 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_152397.3(IQCF1):c.421C>T (p.Arg141Cys) single nucleotide variant not specified [RCV004400858] Chr3:51895087 [GRCh38]
Chr3:51929103 [GRCh37]
Chr3:3p21.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:433
Count of miRNA genes:364
Interacting mature miRNAs:389
Transcripts:ENST00000310914, ENST00000314534
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1298487BFD1_HBody fluid distribution QTL 1 (human)3.94Body fluid distributionimpedance ratio33638071262380712Human
1298489RA4_HRheumatoid arthritis QTL 4 (human)0.0283Joint/bone inflammationrheumatoid arthritis33638071262380712Human
1643509BW293_HBody Weight QTL 293 (human)1.42Body weightBMI33638071262380712Human
2289308BW392_HBody weight QTL 392 (human)1.42Body weightBMI33638071262380712Human
1331643COPD16_HChronic obstructive pulmonary disease QTL 16 (human)1.07Chronic airflow obstructionpost-BD FEV1 minus pre-BD FEV1/pre-BD FEV1 x 10034938065175380651Human


Sequence


Ensembl Acc Id: ENST00000310914   ⟹   ENSP00000307958
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl351,894,876 - 51,903,353 (-)Ensembl
Ensembl Acc Id: ENST00000314534   ⟹   ENSP00000317715
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl351,894,876 - 51,903,335 (-)Ensembl
RefSeq Acc Id: NM_152397   ⟹   NP_689610
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38351,894,876 - 51,903,353 (-)NCBI
GRCh37351,928,892 - 51,937,386 (-)RGD
Build 36351,903,932 - 51,912,391 (-)NCBI Archive
Celera351,907,728 - 51,916,218 (-)RGD
HuRef351,992,583 - 52,001,072 (-)ENTREZGENE
CHM1_1351,881,593 - 51,890,082 (-)NCBI
T2T-CHM13v2.0351,927,807 - 51,936,279 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011533366   ⟹   XP_011531668
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38351,894,876 - 51,897,345 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017005729   ⟹   XP_016861218
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38351,894,876 - 51,902,824 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054345278   ⟹   XP_054201253
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0351,927,807 - 51,935,750 (-)NCBI
RefSeq Acc Id: XM_054345279   ⟹   XP_054201254
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0351,927,807 - 51,930,273 (-)NCBI
RefSeq Acc Id: NP_689610   ⟸   NM_152397
- UniProtKB: Q8N711 (UniProtKB/Swiss-Prot),   Q8N6M8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011531668   ⟸   XM_011533366
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016861218   ⟸   XM_017005729
- Peptide Label: isoform X1
- Sequence:
Ensembl Acc Id: ENSP00000307958   ⟸   ENST00000310914
Ensembl Acc Id: ENSP00000317715   ⟸   ENST00000314534
RefSeq Acc Id: XP_054201253   ⟸   XM_054345278
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054201254   ⟸   XM_054345279
- Peptide Label: isoform X2
Protein Domains
IQ

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8N6M8-F1-model_v2 AlphaFold Q8N6M8 1-205 view protein structure

Promoters
RGD ID:6864576
Promoter ID:EPDNEW_H5453
Type:initiation region
Name:IQCF1_1
Description:IQ motif containing F1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38351,903,353 - 51,903,413EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:28607 AgrOrtholog
COSMIC IQCF1 COSMIC
Ensembl Genes ENSG00000173389 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000310914 ENTREZGENE
  ENST00000310914.10 UniProtKB/Swiss-Prot
  ENST00000314534.6 UniProtKB/TrEMBL
Gene3D-CATH 1.20.5.190 UniProtKB/Swiss-Prot
GTEx ENSG00000173389 GTEx
HGNC ID HGNC:28607 ENTREZGENE
Human Proteome Map IQCF1 Human Proteome Map
InterPro IQ_motif_EF-hand-BS UniProtKB/Swiss-Prot
  IQCF UniProtKB/Swiss-Prot
KEGG Report hsa:132141 UniProtKB/Swiss-Prot
NCBI Gene 132141 ENTREZGENE
PANTHER IQ DOMAIN-CONTAINING PROTEIN F1 UniProtKB/Swiss-Prot
  PTHR21633 UniProtKB/Swiss-Prot
Pfam PF00612 UniProtKB/Swiss-Prot
PharmGKB PA134895829 PharmGKB
PROSITE PS50096 UniProtKB/Swiss-Prot
SMART SM00015 UniProtKB/Swiss-Prot
UniProt F8WEK8_HUMAN UniProtKB/TrEMBL
  IQCF1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q8N711 ENTREZGENE
UniProt Secondary Q8N711 UniProtKB/Swiss-Prot