C1GALT1C1L (C1GALT1 specific chaperone 1 like) - Rat Genome Database

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Gene: C1GALT1C1L (C1GALT1 specific chaperone 1 like) Homo sapiens
Analyze
Symbol: C1GALT1C1L
Name: C1GALT1 specific chaperone 1 like
RGD ID: 9999358
HGNC Page HGNC:51617
Description: Predicted to enable glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity. Predicted to be located in membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: C1GALT1-specific chaperone 1 like; C1GALT1-specific chaperone 1-like; hCG1645220
RGD Orthologs
Chinchilla
Bonobo
Dog
Pig
Green Monkey
Naked Mole-Rat
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
GRCh38243,675,151 - 43,676,429 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl243,675,151 - 43,676,429 (-)EnsemblGRCh38hg38GRCh38
GRCh37243,902,290 - 43,903,568 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36243,755,796 - 43,756,965 (-)NCBINCBI36Build 36hg18NCBI36
Celera243,741,058 - 43,742,227 (-)NCBICelera
Cytogenetic Map2p21NCBI
HuRef243,638,296 - 43,639,465 (-)NCBIHuRef
CHM1_1243,831,656 - 43,832,825 (-)NCBICHM1_1
T2T-CHM13v2.0243,680,521 - 43,681,799 (-)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

Cellular Component
membrane  (IEA)

Molecular Function

References
Additional References at PubMed
PMID:11181995   PMID:21873635   PMID:30232004  


Genomics

Comparative Map Data
C1GALT1C1L
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38243,675,151 - 43,676,429 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl243,675,151 - 43,676,429 (-)EnsemblGRCh38hg38GRCh38
GRCh37243,902,290 - 43,903,568 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36243,755,796 - 43,756,965 (-)NCBINCBI36Build 36hg18NCBI36
Celera243,741,058 - 43,742,227 (-)NCBICelera
Cytogenetic Map2p21NCBI
HuRef243,638,296 - 43,639,465 (-)NCBIHuRef
CHM1_1243,831,656 - 43,832,825 (-)NCBICHM1_1
T2T-CHM13v2.0243,680,521 - 43,681,799 (-)NCBIT2T-CHM13v2.0
C1galt1c1l
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495544110,846,009 - 10,847,263 (-)NCBIChiLan1.0ChiLan1.0
C1GALT1C1L
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21282,750,918 - 82,753,627 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12A82,754,883 - 82,757,308 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02A43,755,825 - 43,757,186 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12A44,601,978 - 44,603,158 (-)NCBIpanpan1.1PanPan1.1panPan2
C1GALT1C1L
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11046,139,112 - 46,139,878 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1046,001,066 - 46,001,832 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01047,017,687 - 47,018,455 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.11046,726,190 - 46,726,958 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01047,016,486 - 47,017,254 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01047,199,378 - 47,200,146 (-)NCBIUU_Cfam_GSD_1.0
C1GALT1C1L
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1396,797,869 - 96,802,705 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.23102,865,205 - 102,866,130 (+)NCBISscrofa10.2Sscrofa10.2susScr3
C1GALT1C1L
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11463,583,936 - 63,585,535 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604548,307,503 - 48,308,977 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
C1galt1c1l
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473825,144,843 - 25,145,846 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in C1GALT1C1L
14 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3 copy number gain See cases [RCV000052943] Chr2:40738282..57863821 [GRCh38]
Chr2:40965422..58090956 [GRCh37]
Chr2:40818926..57944460 [NCBI36]
Chr2:2p22.1-16.1
pathogenic
GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3 copy number gain See cases [RCV000052933] Chr2:66097..55570637 [GRCh38]
Chr2:66097..55797773 [GRCh37]
Chr2:56097..55651277 [NCBI36]
Chr2:2p25.3-16.1
pathogenic
GRCh38/hg38 2p22.3-21(chr2:32849247-45016061)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052942]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052942]|See cases [RCV000052942] Chr2:32849247..45016061 [GRCh38]
Chr2:33074314..45243200 [GRCh37]
Chr2:32927818..45096704 [NCBI36]
Chr2:2p22.3-21
pathogenic
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 copy number gain See cases [RCV000141494] Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2
benign
GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3 copy number gain See cases [RCV000143682] Chr2:236816..45983232 [GRCh38]
Chr2:236816..46210371 [GRCh37]
Chr2:226816..46063875 [NCBI36]
Chr2:2p25.3-21
pathogenic
NM_001101330.3(C1GALT1C1L):c.151A>C (p.Asn51His) single nucleotide variant not specified [RCV004296853] Chr2:43676172 [GRCh38]
Chr2:43903311 [GRCh37]
Chr2:2p21
uncertain significance
NM_001101330.3(C1GALT1C1L):c.874C>T (p.Arg292Trp) single nucleotide variant not specified [RCV004126871] Chr2:43675449 [GRCh38]
Chr2:43902588 [GRCh37]
Chr2:2p21
uncertain significance
NM_001101330.3(C1GALT1C1L):c.371A>C (p.Tyr124Ser) single nucleotide variant not specified [RCV004145331] Chr2:43675952 [GRCh38]
Chr2:43903091 [GRCh37]
Chr2:2p21
uncertain significance
NM_001101330.3(C1GALT1C1L):c.30T>G (p.Phe10Leu) single nucleotide variant not specified [RCV004232703] Chr2:43676293 [GRCh38]
Chr2:43903432 [GRCh37]
Chr2:2p21
uncertain significance
NM_001101330.3(C1GALT1C1L):c.61G>A (p.Val21Ile) single nucleotide variant not specified [RCV004229560] Chr2:43676262 [GRCh38]
Chr2:43903401 [GRCh37]
Chr2:2p21
uncertain significance
NM_001101330.3(C1GALT1C1L):c.17G>A (p.Gly6Glu) single nucleotide variant not specified [RCV004234960] Chr2:43676306 [GRCh38]
Chr2:43903445 [GRCh37]
Chr2:2p21
uncertain significance
NM_001101330.3(C1GALT1C1L):c.745G>A (p.Ala249Thr) single nucleotide variant not specified [RCV004203629] Chr2:43675578 [GRCh38]
Chr2:43902717 [GRCh37]
Chr2:2p21
uncertain significance
NM_001101330.3(C1GALT1C1L):c.348G>C (p.Arg116Ser) single nucleotide variant not specified [RCV004140367] Chr2:43675975 [GRCh38]
Chr2:43903114 [GRCh37]
Chr2:2p21
uncertain significance
NM_001101330.3(C1GALT1C1L):c.436T>A (p.Phe146Ile) single nucleotide variant not specified [RCV004116888] Chr2:43675887 [GRCh38]
Chr2:43903026 [GRCh37]
Chr2:2p21
uncertain significance
NM_001101330.3(C1GALT1C1L):c.535G>A (p.Val179Met) single nucleotide variant not specified [RCV004127528] Chr2:43675788 [GRCh38]
Chr2:43902927 [GRCh37]
Chr2:2p21
uncertain significance
NM_001101330.3(C1GALT1C1L):c.733A>G (p.Thr245Ala) single nucleotide variant not specified [RCV004178234] Chr2:43675590 [GRCh38]
Chr2:43902729 [GRCh37]
Chr2:2p21
uncertain significance
NM_001101330.3(C1GALT1C1L):c.748C>A (p.Gln250Lys) single nucleotide variant not specified [RCV004194049] Chr2:43675575 [GRCh38]
Chr2:43902714 [GRCh37]
Chr2:2p21
uncertain significance
NM_001101330.3(C1GALT1C1L):c.278A>G (p.Lys93Arg) single nucleotide variant not specified [RCV004077762] Chr2:43676045 [GRCh38]
Chr2:43903184 [GRCh37]
Chr2:2p21
uncertain significance
NM_001101330.3(C1GALT1C1L):c.121G>C (p.Glu41Gln) single nucleotide variant not specified [RCV004365716] Chr2:43676202 [GRCh38]
Chr2:43903341 [GRCh37]
Chr2:2p21
uncertain significance
NM_001101330.3(C1GALT1C1L):c.452A>G (p.Asn151Ser) single nucleotide variant not specified [RCV004429492] Chr2:43675871 [GRCh38]
Chr2:43903010 [GRCh37]
Chr2:2p21
uncertain significance
NM_001101330.3(C1GALT1C1L):c.908C>T (p.Thr303Ile) single nucleotide variant not specified [RCV004429496] Chr2:43675415 [GRCh38]
Chr2:43902554 [GRCh37]
Chr2:2p21
uncertain significance
NM_001101330.3(C1GALT1C1L):c.357G>C (p.Gln119His) single nucleotide variant not specified [RCV004429486] Chr2:43675966 [GRCh38]
Chr2:43903105 [GRCh37]
Chr2:2p21
uncertain significance
NM_001101330.3(C1GALT1C1L):c.37A>G (p.Met13Val) single nucleotide variant not specified [RCV004429487] Chr2:43676286 [GRCh38]
Chr2:43903425 [GRCh37]
Chr2:2p21
uncertain significance
NM_001101330.3(C1GALT1C1L):c.739C>A (p.Pro247Thr) single nucleotide variant not specified [RCV004429494] Chr2:43675584 [GRCh38]
Chr2:43902723 [GRCh37]
Chr2:2p21
uncertain significance
NM_001101330.3(C1GALT1C1L):c.323T>C (p.Leu108Ser) single nucleotide variant not specified [RCV004429485] Chr2:43676000 [GRCh38]
Chr2:43903139 [GRCh37]
Chr2:2p21
uncertain significance
NM_001101330.3(C1GALT1C1L):c.865G>C (p.Gly289Arg) single nucleotide variant not specified [RCV004429495] Chr2:43675458 [GRCh38]
Chr2:43902597 [GRCh37]
Chr2:2p21
uncertain significance
NM_001101330.3(C1GALT1C1L):c.446T>C (p.Ile149Thr) single nucleotide variant not specified [RCV004429491] Chr2:43675877 [GRCh38]
Chr2:43903016 [GRCh37]
Chr2:2p21
uncertain significance
NM_001101330.3(C1GALT1C1L):c.529G>A (p.Glu177Lys) single nucleotide variant not specified [RCV004429493] Chr2:43675794 [GRCh38]
Chr2:43902933 [GRCh37]
Chr2:2p21
uncertain significance
NM_001101330.3(C1GALT1C1L):c.418C>T (p.Leu140Phe) single nucleotide variant not specified [RCV004429488] Chr2:43675905 [GRCh38]
Chr2:43903044 [GRCh37]
Chr2:2p21
uncertain significance
NM_001101330.3(C1GALT1C1L):c.425T>G (p.Leu142Arg) single nucleotide variant not specified [RCV004429489] Chr2:43675898 [GRCh38]
Chr2:43903037 [GRCh37]
Chr2:2p21
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:174
Count of miRNA genes:166
Interacting mature miRNAs:168
Transcripts:ENST00000475092, ENST00000542399
Prediction methods:Miranda, Rnahybrid
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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 7 5 3 3 8 4 22 15 351 46
Low 1900 1978 1255 227 344 77 3132 1291 2851 333 996 1098 160 1 1187 1941 3
Below cutoff 462 351 373 311 473 301 1105 850 810 61 81 373 11 15 804 2 1

Sequence


RefSeq Acc Id: ENST00000475092   ⟹   ENSP00000489061
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl243,675,151 - 43,676,429 (-)Ensembl
RefSeq Acc Id: NM_001101330   ⟹   NP_001094800
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38243,675,151 - 43,676,429 (-)NCBI
CHM1_1243,831,656 - 43,832,825 (-)NCBI
T2T-CHM13v2.0243,680,521 - 43,681,799 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001094800 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein EAX00296 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000489061
  ENSP00000489061.1
GenBank Protein P0DN25 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001094800   ⟸   NM_001101330
- UniProtKB: P0DN25 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000489061   ⟸   ENST00000475092

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P0DN25-F1-model_v2 AlphaFold P0DN25 1-315 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:51617 AgrOrtholog
COSMIC C1GALT1C1L COSMIC
Ensembl Genes ENSG00000223658 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000475092 ENTREZGENE
  ENST00000475092.4 UniProtKB/Swiss-Prot
Gene3D-CATH 3.90.550.50 UniProtKB/Swiss-Prot
GTEx ENSG00000223658 GTEx
HGNC ID HGNC:51617 ENTREZGENE
Human Proteome Map C1GALT1C1L Human Proteome Map
InterPro C1GALT1/C1GALT1_chp1 UniProtKB/Swiss-Prot
KEGG Report hsa:728819 UniProtKB/Swiss-Prot
NCBI Gene C1GALT1C1L ENTREZGENE
PANTHER BETA1,3-GALACTOSYLTRANSFERASE UniProtKB/Swiss-Prot
  C1GALT1-SPECIFIC CHAPERONE 1-LIKE PROTEIN UniProtKB/Swiss-Prot
PharmGKB PA166180566 PharmGKB
UniProt C1C1L_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-02-27 C1GALT1C1L  C1GALT1 specific chaperone 1 like    C1GALT1-specific chaperone 1 like  Symbol and/or name change 5135510 APPROVED