CFAP141 (cilia and flagella associated protein 141) - Rat Genome Database

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Gene: CFAP141 (cilia and flagella associated protein 141) Homo sapiens
Analyze
Symbol: CFAP141
Name: cilia and flagella associated protein 141
RGD ID: 1606869
HGNC Page HGNC:32305
Description: Predicted to be involved in flagellated sperm motility. Located in axonemal microtubule.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: C1orf189; chromosome 1 open reading frame 189; cilia- and flagella-associated protein 141; hypothetical protein LOC388701; uncharacterized protein C1orf189
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Squirrel
Pig
Green Monkey
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381154,199,085 - 154,206,333 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1154,199,085 - 154,206,333 (-)EnsemblGRCh38hg38GRCh38
GRCh371154,171,561 - 154,178,809 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361152,438,472 - 152,445,433 (-)NCBINCBI36Build 36hg18NCBI36
Celera1127,243,566 - 127,250,527 (-)NCBICelera
Cytogenetic Map1q21.3NCBI
HuRef1125,534,889 - 125,542,169 (-)NCBIHuRef
CHM1_11155,567,883 - 155,575,150 (-)NCBICHM1_1
T2T-CHM13v2.01153,336,317 - 153,343,543 (-)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

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:15489334   PMID:16710414   PMID:25416956   PMID:32296183   PMID:33961781   PMID:36191189   PMID:39358380  


Genomics

Comparative Map Data
CFAP141
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381154,199,085 - 154,206,333 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1154,199,085 - 154,206,333 (-)EnsemblGRCh38hg38GRCh38
GRCh371154,171,561 - 154,178,809 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361152,438,472 - 152,445,433 (-)NCBINCBI36Build 36hg18NCBI36
Celera1127,243,566 - 127,250,527 (-)NCBICelera
Cytogenetic Map1q21.3NCBI
HuRef1125,534,889 - 125,542,169 (-)NCBIHuRef
CHM1_11155,567,883 - 155,575,150 (-)NCBICHM1_1
T2T-CHM13v2.01153,336,317 - 153,343,543 (-)NCBIT2T-CHM13v2.0
Cfap141
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39389,970,115 - 89,975,654 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl389,970,103 - 89,973,182 (+)EnsemblGRCm39 Ensembl
GRCm38390,062,808 - 90,068,347 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl390,062,796 - 90,068,347 (+)EnsemblGRCm38mm10GRCm38
MGSCv37389,866,718 - 89,872,269 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36390,148,723 - 90,151,804 (+)NCBIMGSCv36mm8
Celera390,099,329 - 90,104,880 (+)NCBICelera
Cytogenetic Map3F1NCBI
cM Map339.2NCBI
Cfap141
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82177,805,290 - 177,808,324 (+)NCBIGRCr8
mRatBN7.22175,507,628 - 175,510,662 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2175,507,628 - 175,510,662 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2182,654,063 - 182,657,099 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02180,676,450 - 180,679,486 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02175,277,069 - 175,280,109 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02189,413,966 - 189,417,000 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2189,413,966 - 189,417,000 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02208,847,004 - 208,850,038 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42182,287,919 - 182,290,953 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera2169,446,524 - 169,449,561 (+)NCBICelera
Cytogenetic Map2q34NCBI
Cfap141
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955545752,737 - 754,042 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955545752,737 - 754,039 (-)NCBIChiLan1.0ChiLan1.0
CFAP141
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2195,627,019 - 95,634,582 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1195,362,248 - 95,369,817 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01129,554,502 - 129,562,071 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11133,168,973 - 133,175,964 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1133,168,973 - 133,175,964 (-)Ensemblpanpan1.1panPan2
Cfap141
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505824,866,901 - 24,871,783 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365803,897,637 - 3,902,170 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365803,897,637 - 3,902,196 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CFAP141
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl495,530,994 - 95,535,407 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1495,531,141 - 95,534,752 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24104,448,112 - 104,451,832 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CFAP141
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1209,615,258 - 9,622,816 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl209,615,288 - 9,622,752 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660388,981,936 - 8,983,530 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q21.3(chr1:153759563-154219803)x1 copy number loss See cases [RCV000053883] Chr1:153759563..154219803 [GRCh38]
Chr1:153732039..154192279 [GRCh37]
Chr1:151998663..152458903 [NCBI36]
Chr1:1q21.3		 pathogenic
GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 copy number gain See cases [RCV000143515] Chr1:149854269..180267197 [GRCh38]
Chr1:149825831..180236332 [GRCh37]
Chr1:148092455..178502955 [NCBI36]
Chr1:1q21.2-25.2		 pathogenic
Single allele inversion Pediatric metastatic thyroid tumour [RCV000585807] Chr1:154130985..156843877 [GRCh37]
Chr1:1q21.3-23.1		 likely pathogenic
GRCh37/hg19 1q21.3-23.1(chr1:153751465-156660462)x3 copy number gain not provided [RCV000585385] Chr1:153751465..156660462 [GRCh37]
Chr1:1q21.3-23.1		 likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q21.3(chr1:150853044-154647786)x3 copy number gain not provided [RCV000684655] Chr1:150853044..154647786 [GRCh37]
Chr1:1q21.3		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q21.3(chr1:153701504-154218584) copy number loss Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome [RCV000767778] Chr1:153701504..154218584 [GRCh37]
Chr1:1q21.3		 pathogenic
GRCh37/hg19 1q21.3(chr1:153659094-154307972)x3 copy number gain not provided [RCV001005142] Chr1:153659094..154307972 [GRCh37]
Chr1:1q21.3		 uncertain significance
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44		 uncertain significance
NC_000001.10:g.(?_149895434)_(156851434_?)dup duplication Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001958273]|Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001958271]|Kostmann syndrome [RCV003120769]|MHC class II deficiency [RCV001992607] Chr1:149895434..156851434 [GRCh37]
Chr1:1q21.2-23.1		 uncertain significance
NC_000001.10:g.(?_154141761)_(156851434_?)dup duplication Charcot-Marie-Tooth disease type 2 [RCV001990060] Chr1:154141761..156851434 [GRCh37]
Chr1:1q21.3-23.1		 uncertain significance
NC_000001.10:g.(?_153963273)_(154580482_?)del deletion Kostmann syndrome [RCV003116530] Chr1:153963273..154580482 [GRCh37]
Chr1:1q21.3		 pathogenic
GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3 copy number gain Chromosome 1q21.1 duplication syndrome [RCV003329522] Chr1:142535935..157648813 [GRCh37]
Chr1:1q12-23.1		 pathogenic
GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3 copy number gain not specified [RCV003986717] Chr1:144368497..158992086 [GRCh37]
Chr1:1q21.1-23.1		 pathogenic
GRCh37/hg19 1q21.3(chr1:154089394-154912611)x3 copy number gain not specified [RCV003986629] Chr1:154089394..154912611 [GRCh37]
Chr1:1q21.3		 uncertain significance
GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3 copy number gain not specified [RCV003987261] Chr1:146577511..157155587 [GRCh37]
Chr1:1q21.1-23.1		 pathogenic
NC_000001.10:g.(?_153782653)_(154580482_?)dup duplication Symmetrical dyschromatosis of extremities [RCV004584092] Chr1:153782653..154580482 [GRCh37]
Chr1:1q21.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:214
Count of miRNA genes:213
Interacting mature miRNAs:213
Transcripts:ENST00000368525
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
1357381BW57_HBody weight QTL 57 (human)10.0001Body weightfat free mass after exercise training1140630236166630236Human

Markers in Region
D1S1900E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371154,179,248 - 154,179,450UniSTSGRCh37
Build 361152,445,872 - 152,446,074RGDNCBI36
Celera1127,250,966 - 127,251,168RGD
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map1q21.3UniSTS
HuRef1125,542,576 - 125,542,778UniSTS
D1S1842E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371154,179,460 - 154,179,574UniSTSGRCh37
Build 361152,446,084 - 152,446,198RGDNCBI36
Celera1127,251,178 - 127,251,292RGD
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map1q21.3UniSTS
HuRef1125,542,788 - 125,542,902UniSTS
GeneMap99-GB4 RH Map1555.98UniSTS
NCBI RH Map11226.9UniSTS
RH12547  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371154,179,305 - 154,179,469UniSTSGRCh37
Build 361152,445,929 - 152,446,093RGDNCBI36
Celera1127,251,023 - 127,251,187RGD
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map1q21.3UniSTS
HuRef1125,542,633 - 125,542,797UniSTS
GeneMap99-GB4 RH Map1555.98UniSTS
NCBI RH Map11222.2UniSTS
RH11751  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371154,179,283 - 154,179,396UniSTSGRCh37
Build 361152,445,907 - 152,446,020RGDNCBI36
Celera1127,251,001 - 127,251,114RGD
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map1q21.3UniSTS
HuRef1125,542,611 - 125,542,724UniSTS
GeneMap99-GB4 RH Map1555.98UniSTS
NCBI RH Map11222.2UniSTS
D9S2048  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371154,179,913 - 154,180,098UniSTSGRCh37
Build 361152,446,537 - 152,446,722RGDNCBI36
Celera1127,251,631 - 127,251,816RGD
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map1q21.3UniSTS
HuRef1125,543,241 - 125,543,426UniSTS
A002G29  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371154,179,226 - 154,179,369UniSTSGRCh37
Build 361152,445,850 - 152,445,993RGDNCBI36
Celera1127,250,944 - 127,251,087RGD
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map1q21.3UniSTS
HuRef1125,542,554 - 125,542,697UniSTS
GeneMap99-GB4 RH Map1540.13UniSTS
GeneMap99-GB4 RH Map1552.65UniSTS
Whitehead-RH Map1673.0UniSTS
NCBI RH Map11147.3UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
965 1416 2073 1521 3224 1097 1698 3 391 1366 296 1637 4982 4521 50 2416 571 1297 1230 105

Sequence


Ensembl Acc Id: ENST00000368525   ⟹   ENSP00000357511
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1154,199,085 - 154,206,333 (-)Ensembl
RefSeq Acc Id: NM_001010979   ⟹   NP_001010979
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381154,199,085 - 154,206,333 (-)NCBI
GRCh371154,171,561 - 154,178,841 (-)NCBI
Build 361152,438,472 - 152,445,433 (-)NCBI Archive
Celera1127,243,566 - 127,250,527 (-)RGD
HuRef1125,534,889 - 125,542,169 (-)NCBI
CHM1_11155,567,883 - 155,575,150 (-)NCBI
T2T-CHM13v2.01153,336,317 - 153,343,543 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001010979 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAI27711 (Get FASTA)   NCBI Sequence Viewer  
  AAI30510 (Get FASTA)   NCBI Sequence Viewer  
  EAW53228 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000357511
  ENSP00000357511.3
GenBank Protein Q5VU69 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001010979   ⟸   NM_001010979
- UniProtKB: A1L4E3 (UniProtKB/Swiss-Prot),   Q5VU69 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000357511   ⟸   ENST00000368525

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q5VU69-F1-model_v2 AlphaFold Q5VU69 1-101 view protein structure

Promoters
RGD ID:6784766
Promoter ID:HG_KWN:5263
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000368525
Position:
Human AssemblyChrPosition (strand)Source
Build 361152,445,476 - 152,446,477 (-)MPROMDB
RGD ID:6857318
Promoter ID:EPDNEW_H1824
Type:initiation region
Name:C1orf189_1
Description:chromosome 1 open reading frame 189
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
GRCh381154,206,333 - 154,206,393EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:32305 AgrOrtholog
COSMIC CFAP141 COSMIC
Ensembl Genes ENSG00000163263 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000368525 ENTREZGENE
  ENST00000368525.4 UniProtKB/Swiss-Prot
GTEx ENSG00000163263 GTEx
HGNC ID HGNC:32305 ENTREZGENE
Human Proteome Map CFAP141 Human Proteome Map
InterPro DUF4558 UniProtKB/Swiss-Prot
KEGG Report hsa:388701 UniProtKB/Swiss-Prot
NCBI Gene 388701 ENTREZGENE
PANTHER C1ORF189 UniProtKB/Swiss-Prot
  RGD1564171 UniProtKB/Swiss-Prot
Pfam DUF4558 UniProtKB/Swiss-Prot
PharmGKB PA166352396 PharmGKB
UniProt A1L4E3 ENTREZGENE
  CA189_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A1L4E3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2021-09-06 CFAP141  cilia and flagella associated protein 141  C1orf189  chromosome 1 open reading frame 189  Symbol and/or name change 19259463 PROVISIONAL