TLCD1 (TLC domain containing 1) - Rat Genome Database

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Gene: TLCD1 (TLC domain containing 1) Homo sapiens
Analyze
Symbol: TLCD1
Name: TLC domain containing 1
RGD ID: 1602658
HGNC Page HGNC:25177
Description: Involved in several processes, including membrane assembly; phospholipid homeostasis; and regulation of membrane lipid distribution. Located in plasma membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: calfacilitin; TLC domain-containing protein 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381728,724,348 - 28,727,937 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1728,724,348 - 28,727,935 (-)EnsemblGRCh38hg38GRCh38
GRCh371727,051,366 - 27,053,950 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361724,075,503 - 24,077,353 (-)NCBINCBI36Build 36hg18NCBI36
Celera1723,910,529 - 23,913,112 (-)NCBICelera
Cytogenetic Map17q11.2NCBI
HuRef1723,260,264 - 23,262,847 (-)NCBIHuRef
CHM1_11727,113,836 - 27,116,419 (-)NCBICHM1_1
T2T-CHM13v2.01729,667,155 - 29,669,739 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
membrane  (IEA)
plasma membrane  (IBA,IDA,IEA)

Molecular Function

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:12151215   PMID:12477932   PMID:21873635   PMID:23673622   PMID:26638075   PMID:28514442   PMID:30509349   PMID:31980649   PMID:32296183   PMID:33845483   PMID:33961781   PMID:36241646  
PMID:37774976  


Genomics

Comparative Map Data
TLCD1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381728,724,348 - 28,727,937 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1728,724,348 - 28,727,935 (-)EnsemblGRCh38hg38GRCh38
GRCh371727,051,366 - 27,053,950 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361724,075,503 - 24,077,353 (-)NCBINCBI36Build 36hg18NCBI36
Celera1723,910,529 - 23,913,112 (-)NCBICelera
Cytogenetic Map17q11.2NCBI
HuRef1723,260,264 - 23,262,847 (-)NCBIHuRef
CHM1_11727,113,836 - 27,116,419 (-)NCBICHM1_1
T2T-CHM13v2.01729,667,155 - 29,669,739 (-)NCBIT2T-CHM13v2.0
Tlcd1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391178,068,956 - 78,071,646 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1178,067,537 - 78,072,735 (+)EnsemblGRCm39 Ensembl
GRCm381178,176,716 - 78,181,019 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1178,176,711 - 78,181,909 (+)EnsemblGRCm38mm10GRCm38
MGSCv371177,992,268 - 77,994,274 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361177,994,961 - 77,996,967 (+)NCBIMGSCv36mm8
Celera1185,678,639 - 85,680,645 (+)NCBICelera
Cytogenetic Map11B5NCBI
cM Map1146.74NCBI
Tlcd1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81063,572,541 - 63,574,574 (+)NCBIGRCr8
mRatBN7.21063,074,469 - 63,076,502 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1063,074,469 - 63,076,501 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1067,706,756 - 67,708,789 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01067,212,110 - 67,214,143 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01062,683,064 - 62,685,097 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01065,439,104 - 65,441,140 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1065,439,102 - 65,444,001 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01066,193,480 - 66,195,513 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41064,454,775 - 64,456,808 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11064,468,398 - 64,470,431 (-)NCBI
Celera1062,052,068 - 62,054,101 (+)NCBICelera
Cytogenetic Map10q25NCBI
Tlcd1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554814,430,895 - 4,433,147 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554814,429,923 - 4,433,147 (+)NCBIChiLan1.0ChiLan1.0
TLCD1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21935,732,416 - 35,734,964 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11737,612,938 - 37,615,480 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01728,048,407 - 28,051,086 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11728,554,368 - 28,556,113 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1728,551,715 - 28,556,113 (+)Ensemblpanpan1.1panPan2
TLCD1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1942,918,932 - 42,921,098 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl942,919,196 - 42,920,913 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha942,074,752 - 42,076,857 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0943,737,160 - 43,739,265 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl943,737,369 - 43,739,272 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1942,520,316 - 42,522,417 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0942,812,535 - 42,814,638 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0942,890,838 - 42,892,943 (-)NCBIUU_Cfam_GSD_1.0
Tlcd1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560242,054,928 - 42,058,997 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365384,933,857 - 4,936,221 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365384,933,920 - 4,936,574 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TLCD1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1244,959,453 - 44,962,963 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11244,960,965 - 44,963,023 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21246,946,095 - 46,947,950 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TLCD1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11622,492,085 - 22,494,989 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1622,487,975 - 22,494,160 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660757,628,636 - 7,631,116 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tlcd1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247861,298,152 - 1,300,370 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247861,298,152 - 1,301,331 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TLCD1
14 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17q11.2(chr17:28283125-28904397)x3 copy number gain See cases [RCV000136494] Chr17:28283125..28904397 [GRCh38]
Chr17:26610151..27231415 [GRCh37]
Chr17:23634278..24255541 [NCBI36]
Chr17:17q11.2		 benign
GRCh37/hg19 17q11.1-11.2(chr17:25403446-31685464)x3 copy number gain not provided [RCV000762776] Chr17:25403446..31685464 [GRCh37]
Chr17:17q11.1-11.2		 likely pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_138463.4(TLCD1):c.79T>C (p.Cys27Arg) single nucleotide variant Inborn genetic diseases [RCV003240291] Chr17:28726019 [GRCh38]
Chr17:27053037 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_138463.4(TLCD1):c.388T>G (p.Phe130Val) single nucleotide variant Inborn genetic diseases [RCV003255921] Chr17:28724866 [GRCh38]
Chr17:27051884 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_138463.4(TLCD1):c.40G>A (p.Gly14Ser) single nucleotide variant Inborn genetic diseases [RCV003270708] Chr17:28726058 [GRCh38]
Chr17:27053076 [GRCh37]
Chr17:17q11.2		 uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17q11.1-11.2(chr17:25248166-30645676)x1 copy number loss Mitogen-activated protein kinase kinase inhibitor response [RCV000626439] Chr17:25248166..30645676 [GRCh37]
Chr17:17q11.1-11.2		 drug response
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p11.2-q11.2(chr17:21279289-27474974)x2 copy number gain not provided [RCV000739439] Chr17:21279289..27474974 [GRCh37]
Chr17:17p11.2-q11.2		 likely pathogenic
GRCh37/hg19 17q11.1-11.2(chr17:25274363-28450707)x3 copy number gain not provided [RCV001006886] Chr17:25274363..28450707 [GRCh37]
Chr17:17q11.1-11.2		 pathogenic
GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3 copy number gain not provided [RCV000846852] Chr17:21690653..38772647 [GRCh37]
Chr17:17p11.2-q21.2		 pathogenic
NM_138463.4(TLCD1):c.391T>C (p.Trp131Arg) single nucleotide variant Inborn genetic diseases [RCV003268947] Chr17:28724863 [GRCh38]
Chr17:27051881 [GRCh37]
Chr17:17q11.2		 uncertain significance
GRCh37/hg19 17p11.2-q11.2(chr17:21690653-28281232) copy number gain not specified [RCV002052591] Chr17:21690653..28281232 [GRCh37]
Chr17:17p11.2-q11.2		 pathogenic
NC_000017.10:g.(?_26684694)_(27581367_?)dup duplication not provided [RCV003116316] Chr17:26684694..27581367 [GRCh37]
Chr17:17q11.2		 uncertain significance
NC_000017.10:g.(?_26684694)_(29701173_?)dup duplication not provided [RCV003123018] Chr17:26684694..29701173 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_001160407.2(TLCD1):c.35G>T (p.Arg12Leu) single nucleotide variant Inborn genetic diseases [RCV002784753] Chr17:28726774 [GRCh38]
Chr17:27053792 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_138463.4(TLCD1):c.676C>A (p.Leu226Ile) single nucleotide variant Inborn genetic diseases [RCV002698857] Chr17:28724578 [GRCh38]
Chr17:27051596 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_138463.4(TLCD1):c.451C>T (p.Leu151Phe) single nucleotide variant Inborn genetic diseases [RCV002666054] Chr17:28724803 [GRCh38]
Chr17:27051821 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_138463.4(TLCD1):c.296C>T (p.Thr99Met) single nucleotide variant Inborn genetic diseases [RCV002789832] Chr17:28725368 [GRCh38]
Chr17:27052386 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_138463.4(TLCD1):c.335G>C (p.Trp112Ser) single nucleotide variant Inborn genetic diseases [RCV002936219] Chr17:28725329 [GRCh38]
Chr17:27052347 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_001160407.2(TLCD1):c.52A>C (p.Ser18Arg) single nucleotide variant Inborn genetic diseases [RCV002936884] Chr17:28726757 [GRCh38]
Chr17:27053775 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_138463.4(TLCD1):c.74C>T (p.Ala25Val) single nucleotide variant Inborn genetic diseases [RCV002714520] Chr17:28726024 [GRCh38]
Chr17:27053042 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_138463.4(TLCD1):c.445A>G (p.Ile149Val) single nucleotide variant Inborn genetic diseases [RCV003186273] Chr17:28724809 [GRCh38]
Chr17:27051827 [GRCh37]
Chr17:17q11.2		 uncertain significance
GRCh37/hg19 17q11.1-11.2(chr17:25263507-27829791)x3 copy number gain Developmental delay with or without intellectual impairment or behavioral abnormalities [RCV003329553] Chr17:25263507..27829791 [GRCh37]
Chr17:17q11.1-11.2		 uncertain significance
NM_138463.4(TLCD1):c.406G>A (p.Gly136Ser) single nucleotide variant Inborn genetic diseases [RCV003368389] Chr17:28724848 [GRCh38]
Chr17:27051866 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_138463.4(TLCD1):c.293A>C (p.Asp98Ala) single nucleotide variant Inborn genetic diseases [RCV003383816] Chr17:28725371 [GRCh38]
Chr17:27052389 [GRCh37]
Chr17:17q11.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1073
Count of miRNA genes:486
Interacting mature miRNAs:536
Transcripts:ENST00000292090, ENST00000394933, ENST00000580518, ENST00000581236
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.

Markers in Region
RH78645  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371727,051,048 - 27,051,167UniSTSGRCh37
Build 361724,075,175 - 24,075,294RGDNCBI36
Celera1723,910,211 - 23,910,330RGD
Cytogenetic Map17q11UniSTS
Cytogenetic Map17q11.2UniSTS
HuRef1723,259,946 - 23,260,065UniSTS
SHGC-56895  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371727,051,642 - 27,051,789UniSTSGRCh37
Build 361724,075,769 - 24,075,916RGDNCBI36
Celera1723,910,805 - 23,910,952RGD
Cytogenetic Map17q11.2UniSTS
HuRef1723,260,540 - 23,260,687UniSTS
TNG Radiation Hybrid Map1710980.0UniSTS
G28287  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371915,723,258 - 15,723,390UniSTSGRCh37
GRCh371727,051,221 - 27,051,353UniSTSGRCh37
Build 361724,075,348 - 24,075,480RGDNCBI36
Celera1915,620,118 - 15,620,250UniSTS
Celera1723,910,384 - 23,910,516RGD
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map17q11.2UniSTS
HuRef1915,291,162 - 15,291,294UniSTS
HuRef1723,260,119 - 23,260,251UniSTS


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 236 4 237 232 280 141 1485 30 438 214 638 578 104 8 657 2
Low 1748 1952 1486 392 950 324 2179 1130 3270 205 772 1033 70 1181 1442 4 2
Below cutoff 450 977 2 659 654 989 24 47 1 1 1 14 650

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000292090   ⟹   ENSP00000292090
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,724,348 - 28,726,233 (-)Ensembl
RefSeq Acc Id: ENST00000394933   ⟹   ENSP00000378391
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,724,453 - 28,726,932 (-)Ensembl
RefSeq Acc Id: ENST00000580518   ⟹   ENSP00000466264
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,724,599 - 28,727,935 (-)Ensembl
RefSeq Acc Id: ENST00000581236   ⟹   ENSP00000468670
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,724,358 - 28,724,850 (-)Ensembl
RefSeq Acc Id: NM_001160407   ⟹   NP_001153879
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381728,724,348 - 28,726,932 (-)NCBI
GRCh371727,051,366 - 27,053,949 (-)RGD
Celera1723,910,529 - 23,913,112 (-)RGD
HuRef1723,260,264 - 23,262,847 (-)ENTREZGENE
CHM1_11727,113,836 - 27,116,419 (-)NCBI
T2T-CHM13v2.01729,667,155 - 29,669,739 (-)NCBI
Sequence:
RefSeq Acc Id: NM_138463   ⟹   NP_612472
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381728,724,348 - 28,726,233 (-)NCBI
GRCh371727,051,366 - 27,053,949 (-)RGD
Build 361724,075,503 - 24,077,353 (-)NCBI Archive
Celera1723,910,529 - 23,913,112 (-)RGD
HuRef1723,260,264 - 23,262,847 (-)ENTREZGENE
CHM1_11727,113,836 - 27,115,700 (-)NCBI
T2T-CHM13v2.01729,667,155 - 29,669,040 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006721671   ⟹   XP_006721734
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381728,724,348 - 28,727,937 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011524278   ⟹   XP_011522580
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381728,724,348 - 28,726,233 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047435299   ⟹   XP_047291255
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381728,724,348 - 28,726,932 (-)NCBI
RefSeq Acc Id: XM_054314958   ⟹   XP_054170933
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01729,667,165 - 29,669,040 (-)NCBI
RefSeq Acc Id: XM_054314959   ⟹   XP_054170934
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01729,667,165 - 29,669,739 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_001153879   ⟸   NM_001160407
- Peptide Label: isoform 2
- UniProtKB: Q96CP7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_612472   ⟸   NM_138463
- Peptide Label: isoform 1 precursor
- UniProtKB: A8MYP9 (UniProtKB/Swiss-Prot),   Q96CP7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006721734   ⟸   XM_006721671
- Peptide Label: isoform X3
- UniProtKB: K7ELX5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011522580   ⟸   XM_011524278
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000466264   ⟸   ENST00000580518
RefSeq Acc Id: ENSP00000292090   ⟸   ENST00000292090
RefSeq Acc Id: ENSP00000468670   ⟸   ENST00000581236
RefSeq Acc Id: ENSP00000378391   ⟸   ENST00000394933
RefSeq Acc Id: XP_047291255   ⟸   XM_047435299
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054170934   ⟸   XM_054314959
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054170933   ⟸   XM_054314958
- Peptide Label: isoform X1
Protein Domains
TLC

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96CP7-F1-model_v2 AlphaFold Q96CP7 1-247 view protein structure

Promoters
RGD ID:7234439
Promoter ID:EPDNEW_H22965
Type:initiation region
Name:TLCD1_1
Description:TLC domain containing 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22966  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381728,726,231 - 28,726,291EPDNEW
RGD ID:7234441
Promoter ID:EPDNEW_H22966
Type:initiation region
Name:TLCD1_2
Description:TLC domain containing 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22965  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381728,727,927 - 28,727,987EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25177 AgrOrtholog
COSMIC TLCD1 COSMIC
Ensembl Genes ENSG00000160606 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000292090 ENTREZGENE
  ENST00000292090.8 UniProtKB/Swiss-Prot
  ENST00000394933 ENTREZGENE
  ENST00000394933.7 UniProtKB/Swiss-Prot
  ENST00000580518 ENTREZGENE
  ENST00000580518.1 UniProtKB/TrEMBL
  ENST00000581236.1 UniProtKB/TrEMBL
GTEx ENSG00000160606 GTEx
HGNC ID HGNC:25177 ENTREZGENE
Human Proteome Map TLCD1 Human Proteome Map
InterPro TLC-dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:116238 UniProtKB/Swiss-Prot
NCBI Gene 116238 ENTREZGENE
PANTHER CT120 PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TLC DOMAIN-CONTAINING PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam TRAM_LAG1_CLN8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142670807 PharmGKB
PROSITE TLC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART TLC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8MYP9 ENTREZGENE
  K7ELX5 ENTREZGENE, UniProtKB/TrEMBL
  K7ESD9_HUMAN UniProtKB/TrEMBL
  Q96CP7 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A8MYP9 UniProtKB/Swiss-Prot