TCHHL1 (trichohyalin like 1) - Rat Genome Database

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Gene: TCHHL1 (trichohyalin like 1) Homo sapiens
Analyze
Symbol: TCHHL1
Name: trichohyalin like 1
RGD ID: 1605587
HGNC Page HGNC:31796
Description: Predicted to enable transition metal ion binding activity.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: basalin; intermediate filament-associated protein; S100 calcium binding protein A17; S100 calcium-binding protein A17; S100A17; THHL1; trichohyalin-like 1; trichohyalin-like protein 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
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
GRCh381152,084,141 - 152,089,064 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1152,084,141 - 152,089,064 (-)EnsemblGRCh38hg38GRCh38
GRCh371152,056,617 - 152,061,540 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361150,323,244 - 150,328,164 (-)NCBINCBI36Build 36hg18NCBI36
Celera1125,171,284 - 125,176,204 (-)NCBICelera
Cytogenetic Map1q21.3NCBI
HuRef1123,434,550 - 123,439,470 (-)NCBIHuRef
CHM1_11153,451,951 - 153,456,871 (-)NCBICHM1_1
T2T-CHM13v2.01151,207,707 - 151,212,630 (-)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

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:20585627   PMID:21614011   PMID:22939629   PMID:23376073   PMID:33961781   PMID:34984527   PMID:36244648  


Genomics

Comparative Map Data
TCHHL1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381152,084,141 - 152,089,064 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1152,084,141 - 152,089,064 (-)EnsemblGRCh38hg38GRCh38
GRCh371152,056,617 - 152,061,540 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361150,323,244 - 150,328,164 (-)NCBINCBI36Build 36hg18NCBI36
Celera1125,171,284 - 125,176,204 (-)NCBICelera
Cytogenetic Map1q21.3NCBI
HuRef1123,434,550 - 123,439,470 (-)NCBIHuRef
CHM1_11153,451,951 - 153,456,871 (-)NCBICHM1_1
T2T-CHM13v2.01151,207,707 - 151,212,630 (-)NCBIT2T-CHM13v2.0
Tchhl1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39393,376,061 - 93,379,287 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl393,376,061 - 93,379,287 (+)EnsemblGRCm39 Ensembl
GRCm38393,468,754 - 93,471,980 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl393,468,754 - 93,471,980 (+)EnsemblGRCm38mm10GRCm38
MGSCv37393,272,676 - 93,275,902 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36393,554,158 - 93,557,384 (+)NCBIMGSCv36mm8
MGSCv36394,166,544 - 94,169,770 (+)NCBIMGSCv36mm8
Cytogenetic Map3F2.1NCBI
cM Map340.51NCBI
Tchhl1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82181,818,424 - 181,821,666 (+)NCBIGRCr8
mRatBN7.22179,134,941 - 179,138,467 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2179,135,796 - 179,138,202 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.02193,807,250 - 193,809,696 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2193,807,281 - 193,809,637 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02211,057,778 - 211,060,137 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42186,558,683 - 186,560,921 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12186,508,788 - 186,511,027 (+)NCBI
Celera2171,148,055 - 171,150,501 (-)NCBICelera
Cytogenetic Map2q34NCBI
Tchhl1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_004955589335,920 - 343,206 (+)NCBIChiLan1.0ChiLan1.0
TCHHL1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2197,734,619 - 97,739,541 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1197,485,851 - 97,490,773 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01127,442,837 - 127,447,753 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11131,085,544 - 131,090,456 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1131,085,544 - 131,090,456 (-)Ensemblpanpan1.1panPan2
TCHHL1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11761,077,129 - 61,081,240 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1761,077,944 - 61,081,233 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1760,521,236 - 60,525,237 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01762,096,590 - 62,100,591 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1762,097,375 - 62,100,577 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11760,923,056 - 60,927,057 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01761,009,250 - 61,013,251 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01761,738,869 - 61,742,871 (-)NCBIUU_Cfam_GSD_1.0
Tchhl1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505823,226,987 - 23,231,531 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049365802,257,376 - 2,262,026 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TCHHL1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl497,177,405 - 97,182,540 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1497,176,719 - 97,182,012 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24106,139,258 - 106,143,848 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TCHHL1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12011,562,589 - 11,568,863 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366603811,123,194 - 11,126,359 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tchhl1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462477219,718,920 - 19,725,594 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TCHHL1
41 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001008536.1(TCHHL1):c.1352G>A (p.Gly451Glu) single nucleotide variant Malignant melanoma [RCV000059877] Chr1:152086330 [GRCh38]
Chr1:152058806 [GRCh37]
Chr1:150325430 [NCBI36]
Chr1:1q21.3		 not provided
NM_001008536.1(TCHHL1):c.1596G>A (p.Gly532=) single nucleotide variant Malignant melanoma [RCV000064145] Chr1:152086086 [GRCh38]
Chr1:152058562 [GRCh37]
Chr1:150325186 [NCBI36]
Chr1:1q21.3		 not provided
NM_001008536.1(TCHHL1):c.943C>T (p.Pro315Ser) single nucleotide variant Malignant melanoma [RCV000064146] Chr1:152086739 [GRCh38]
Chr1:152059215 [GRCh37]
Chr1:150325839 [NCBI36]
Chr1:1q21.3		 not provided
NM_001008536.1(TCHHL1):c.554G>A (p.Gly185Glu) single nucleotide variant Malignant melanoma [RCV000064147] Chr1:152087128 [GRCh38]
Chr1:152059604 [GRCh37]
Chr1:150326228 [NCBI36]
Chr1:1q21.3		 not provided
NM_001008536.1(TCHHL1):c.223C>T (p.Leu75Phe) single nucleotide variant Malignant melanoma [RCV000064148] Chr1:152087459 [GRCh38]
Chr1:152059935 [GRCh37]
Chr1:150326559 [NCBI36]
Chr1:1q21.3		 not provided
GRCh38/hg38 1q21.3(chr1:151858531-152298574)x1 copy number loss See cases [RCV000143761] Chr1:151858531..152298574 [GRCh38]
Chr1:151831007..152271050 [GRCh37]
Chr1:150097631..150537674 [NCBI36]
Chr1:1q21.3		 uncertain significance
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
GRCh37/hg19 1q21.1-21.3(chr1:144927578-153223600)x3 copy number gain Chromosome 1q21.1 duplication syndrome [RCV000223957] Chr1:144927578..153223600 [GRCh37]
Chr1:1q21.1-21.3		 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
NM_001008536.2(TCHHL1):c.1445A>G (p.Asn482Ser) single nucleotide variant not specified [RCV004308213] Chr1:152086237 [GRCh38]
Chr1:152058713 [GRCh37]
Chr1:1q21.3		 likely benign
NM_001008536.2(TCHHL1):c.2330G>A (p.Ser777Asn) single nucleotide variant not specified [RCV004286157] Chr1:152085352 [GRCh38]
Chr1:152057828 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001008536.2(TCHHL1):c.1205C>T (p.Thr402Ile) single nucleotide variant not specified [RCV004332636] Chr1:152086477 [GRCh38]
Chr1:152058953 [GRCh37]
Chr1:1q21.3		 uncertain significance
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
NM_001008536.2(TCHHL1):c.2365T>C (p.Cys789Arg) single nucleotide variant not provided [RCV000964235] Chr1:152085317 [GRCh38]
Chr1:152057793 [GRCh37]
Chr1:1q21.3		 benign
NM_001008536.2(TCHHL1):c.2244T>C (p.Asp748=) single nucleotide variant not provided [RCV000946496] Chr1:152085438 [GRCh38]
Chr1:152057914 [GRCh37]
Chr1:1q21.3		 benign|likely benign
NM_001008536.2(TCHHL1):c.499A>T (p.Asn167Tyr) single nucleotide variant not provided [RCV000964236] Chr1:152087183 [GRCh38]
Chr1:152059659 [GRCh37]
Chr1:1q21.3		 benign
NM_001008536.2(TCHHL1):c.578C>G (p.Ala193Gly) single nucleotide variant not provided [RCV000968530] Chr1:152087104 [GRCh38]
Chr1:152059580 [GRCh37]
Chr1:1q21.3		 benign
NM_001008536.2(TCHHL1):c.1595G>A (p.Gly532Glu) single nucleotide variant not provided [RCV000973284] Chr1:152086087 [GRCh38]
Chr1:152058563 [GRCh37]
Chr1:1q21.3		 likely benign
NM_001008536.2(TCHHL1):c.880C>T (p.Gln294Ter) single nucleotide variant not provided [RCV000973285] Chr1:152086802 [GRCh38]
Chr1:152059278 [GRCh37]
Chr1:1q21.3		 benign
GRCh37/hg19 1q21.3(chr1:151798754-152306536)x3 copy number gain not provided [RCV001005138] Chr1:151798754..152306536 [GRCh37]
Chr1:1q21.3		 uncertain significance
GRCh37/hg19 1q21.3(chr1:152000477-152223996)x1 copy number loss not provided [RCV001005139] Chr1:152000477..152223996 [GRCh37]
Chr1:1q21.3		 uncertain significance
GRCh37/hg19 1q21.3(chr1:151850071-152295520)x3 copy number gain not provided [RCV000846163] Chr1:151850071..152295520 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001008536.2(TCHHL1):c.1948A>G (p.Asn650Asp) single nucleotide variant not specified [RCV004286365] Chr1:152085734 [GRCh38]
Chr1:152058210 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001008536.2(TCHHL1):c.2533G>C (p.Asp845His) single nucleotide variant not specified [RCV004292092] Chr1:152085149 [GRCh38]
Chr1:152057625 [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.(?_151801885)_(152287932_?)dup duplication Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003116304] Chr1:151801885..152287932 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001008536.2(TCHHL1):c.35T>C (p.Ile12Thr) single nucleotide variant not specified [RCV004141965] Chr1:152088109 [GRCh38]
Chr1:152060585 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001008536.2(TCHHL1):c.517T>C (p.Ser173Pro) single nucleotide variant not specified [RCV004125879] Chr1:152087165 [GRCh38]
Chr1:152059641 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001008536.2(TCHHL1):c.791C>T (p.Pro264Leu) single nucleotide variant not specified [RCV004134857] Chr1:152086891 [GRCh38]
Chr1:152059367 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001008536.2(TCHHL1):c.2612G>A (p.Gly871Asp) single nucleotide variant not specified [RCV004104277] Chr1:152085070 [GRCh38]
Chr1:152057546 [GRCh37]
Chr1:1q21.3		 likely benign
NM_001008536.2(TCHHL1):c.1099T>C (p.Cys367Arg) single nucleotide variant not specified [RCV004216366] Chr1:152086583 [GRCh38]
Chr1:152059059 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001008536.2(TCHHL1):c.1634G>C (p.Gly545Ala) single nucleotide variant not specified [RCV004134071] Chr1:152086048 [GRCh38]
Chr1:152058524 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001008536.2(TCHHL1):c.220G>T (p.Val74Phe) single nucleotide variant not specified [RCV004155733] Chr1:152087462 [GRCh38]
Chr1:152059938 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001008536.2(TCHHL1):c.2405A>G (p.Tyr802Cys) single nucleotide variant not specified [RCV004090854] Chr1:152085277 [GRCh38]
Chr1:152057753 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001008536.2(TCHHL1):c.2552A>G (p.Asn851Ser) single nucleotide variant not specified [RCV004121386] Chr1:152085130 [GRCh38]
Chr1:152057606 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001008536.2(TCHHL1):c.213T>G (p.Asp71Glu) single nucleotide variant not specified [RCV004155732] Chr1:152087469 [GRCh38]
Chr1:152059945 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001008536.2(TCHHL1):c.974A>G (p.Lys325Arg) single nucleotide variant not specified [RCV004150366] Chr1:152086708 [GRCh38]
Chr1:152059184 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001008536.2(TCHHL1):c.1868A>G (p.Glu623Gly) single nucleotide variant not specified [RCV004147791] Chr1:152085814 [GRCh38]
Chr1:152058290 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001008536.2(TCHHL1):c.1760G>A (p.Gly587Asp) single nucleotide variant not specified [RCV004200913] Chr1:152085922 [GRCh38]
Chr1:152058398 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001008536.2(TCHHL1):c.1387G>C (p.Ala463Pro) single nucleotide variant not specified [RCV004155060] Chr1:152086295 [GRCh38]
Chr1:152058771 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001008536.2(TCHHL1):c.83T>C (p.Leu28Pro) single nucleotide variant not specified [RCV004232748] Chr1:152088061 [GRCh38]
Chr1:152060537 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001008536.2(TCHHL1):c.430C>T (p.Leu144Phe) single nucleotide variant not specified [RCV004165570] Chr1:152087252 [GRCh38]
Chr1:152059728 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001008536.2(TCHHL1):c.1465G>A (p.Ala489Thr) single nucleotide variant not specified [RCV004251412] Chr1:152086217 [GRCh38]
Chr1:152058693 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001008536.2(TCHHL1):c.118G>A (p.Glu40Lys) single nucleotide variant not specified [RCV004263666] Chr1:152088026 [GRCh38]
Chr1:152060502 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001008536.2(TCHHL1):c.2407C>A (p.Gln803Lys) single nucleotide variant not specified [RCV004248910] Chr1:152085275 [GRCh38]
Chr1:152057751 [GRCh37]
Chr1:1q21.3		 uncertain significance
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
NM_001008536.2(TCHHL1):c.2675G>A (p.Arg892Lys) single nucleotide variant not specified [RCV004348020] Chr1:152085007 [GRCh38]
Chr1:152057483 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001008536.2(TCHHL1):c.713C>A (p.Pro238Gln) single nucleotide variant not specified [RCV004363451] Chr1:152086969 [GRCh38]
Chr1:152059445 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001008536.2(TCHHL1):c.2655A>T (p.Gln885His) single nucleotide variant not specified [RCV004363718] Chr1:152085027 [GRCh38]
Chr1:152057503 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001008536.2(TCHHL1):c.1441G>T (p.Val481Leu) single nucleotide variant not specified [RCV004343522] Chr1:152086241 [GRCh38]
Chr1:152058717 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001008536.2(TCHHL1):c.64G>T (p.Asp22Tyr) single nucleotide variant not specified [RCV004365569] Chr1:152088080 [GRCh38]
Chr1:152060556 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001008536.2(TCHHL1):c.1529T>C (p.Val510Ala) single nucleotide variant Bladder exstrophy-epispadias-cloacal extrophy complex [RCV003389422] Chr1:152086153 [GRCh38]
Chr1:152058629 [GRCh37]
Chr1:1q21.3		 uncertain significance
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 1q21.1-23.1(chr1:146577511-157155587)x3 copy number gain not specified [RCV003987261] Chr1:146577511..157155587 [GRCh37]
Chr1:1q21.1-23.1		 pathogenic
NM_001008536.2(TCHHL1):c.1894G>C (p.Glu632Gln) single nucleotide variant not specified [RCV004466597] Chr1:152085788 [GRCh38]
Chr1:152058264 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001008536.2(TCHHL1):c.2700C>G (p.Ser900Arg) single nucleotide variant not specified [RCV004466606] Chr1:152084982 [GRCh38]
Chr1:152057458 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001008536.2(TCHHL1):c.1186G>T (p.Gly396Cys) single nucleotide variant not specified [RCV004466596] Chr1:152086496 [GRCh38]
Chr1:152058972 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001008536.2(TCHHL1):c.1976C>A (p.Thr659Lys) single nucleotide variant not specified [RCV004466600] Chr1:152085706 [GRCh38]
Chr1:152058182 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001008536.2(TCHHL1):c.242T>C (p.Leu81Ser) single nucleotide variant not specified [RCV004466604] Chr1:152087440 [GRCh38]
Chr1:152059916 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001008536.2(TCHHL1):c.965C>A (p.Thr322Asn) single nucleotide variant not specified [RCV004466608] Chr1:152086717 [GRCh38]
Chr1:152059193 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001008536.2(TCHHL1):c.1945C>G (p.Pro649Ala) single nucleotide variant not specified [RCV004466598] Chr1:152085737 [GRCh38]
Chr1:152058213 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001008536.2(TCHHL1):c.1945C>T (p.Pro649Ser) single nucleotide variant not specified [RCV004466599] Chr1:152085737 [GRCh38]
Chr1:152058213 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001008536.2(TCHHL1):c.2014A>G (p.Ile672Val) single nucleotide variant not specified [RCV004466602] Chr1:152085668 [GRCh38]
Chr1:152058144 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001008536.2(TCHHL1):c.2005G>C (p.Glu669Gln) single nucleotide variant not specified [RCV004466601] Chr1:152085677 [GRCh38]
Chr1:152058153 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001008536.2(TCHHL1):c.478T>A (p.Trp160Arg) single nucleotide variant not specified [RCV004466607] Chr1:152087204 [GRCh38]
Chr1:152059680 [GRCh37]
Chr1:1q21.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:261
Count of miRNA genes:233
Interacting mature miRNAs:239
Transcripts:ENST00000368806
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
AL009569  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371152,060,934 - 152,061,053UniSTSGRCh37
Build 361150,327,558 - 150,327,677RGDNCBI36
Celera1125,175,598 - 125,175,717RGD
Cytogenetic Map1q21.3UniSTS
HuRef1123,438,864 - 123,438,983UniSTS


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 adipose tissue appendage entire extraembryonic component
High
Medium 1 23 1 1 5
Low 6 1 3 2 102 3 1 2 15 17 2 1 31 2
Below cutoff 389 422 238 69 247 32 1141 325 596 34 526 271 43 194 794 3

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000368806   ⟹   ENSP00000357796
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1152,084,141 - 152,089,064 (-)Ensembl
RefSeq Acc Id: NM_001008536   ⟹   NP_001008536
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381152,084,141 - 152,089,064 (-)NCBI
GRCh371152,056,620 - 152,061,540 (-)RGD
Build 361150,323,244 - 150,328,164 (-)NCBI Archive
Celera1125,171,284 - 125,176,204 (-)RGD
HuRef1123,434,550 - 123,439,470 (-)RGD
CHM1_11153,451,951 - 153,456,871 (-)NCBI
T2T-CHM13v2.01151,207,707 - 151,212,630 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_001008536   ⟸   NM_001008536
- UniProtKB: B2RPK8 (UniProtKB/Swiss-Prot),   Q5VTJ9 (UniProtKB/Swiss-Prot),   Q5QJ38 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000357796   ⟸   ENST00000368806
Protein Domains
EF-hand

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q5QJ38-F1-model_v2 AlphaFold Q5QJ38 1-904 view protein structure

Promoters
RGD ID:6857118
Promoter ID:EPDNEW_H1724
Type:multiple initiation site
Name:TCHHL1_1
Description:trichohyalin like 1
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
GRCh381152,089,064 - 152,089,124EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:31796 AgrOrtholog
COSMIC TCHHL1 COSMIC
Ensembl Genes ENSG00000182898 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000368806 ENTREZGENE
  ENST00000368806.2 UniProtKB/Swiss-Prot
Gene3D-CATH EF-hand UniProtKB/Swiss-Prot
GTEx ENSG00000182898 GTEx
HGNC ID HGNC:31796 ENTREZGENE
Human Proteome Map TCHHL1 Human Proteome Map
InterPro EF-hand-dom_pair UniProtKB/Swiss-Prot
  S-100_dom UniProtKB/Swiss-Prot
  S100_Ca-bd_sub UniProtKB/Swiss-Prot
  TCHHL1 UniProtKB/Swiss-Prot
KEGG Report hsa:126637 UniProtKB/Swiss-Prot
NCBI Gene 126637 ENTREZGENE
PANTHER PTHR47612 UniProtKB/Swiss-Prot
  TRICHOHYALIN-LIKE PROTEIN 1 UniProtKB/Swiss-Prot
Pfam S_100 UniProtKB/Swiss-Prot
PharmGKB PA134982007 PharmGKB
SMART S_100 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF47473 UniProtKB/Swiss-Prot
UniProt B2RPK8 ENTREZGENE
  L8E6Z9_HUMAN UniProtKB/TrEMBL
  Q5QJ38 ENTREZGENE
  Q5VTJ9 ENTREZGENE
  TCHL1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B2RPK8 UniProtKB/Swiss-Prot
  Q5VTJ9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-17 TCHHL1  trichohyalin like 1    trichohyalin-like 1  Symbol and/or name change 5135510 APPROVED