KRT36 (keratin 36) - Rat Genome Database

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Gene: KRT36 (keratin 36) Homo sapiens
Analyze
Symbol: KRT36
Name: keratin 36
RGD ID: 1314039
HGNC Page HGNC:6454
Description: Predicted to be a structural constituent of skin epidermis. Predicted to be involved in epithelial cell differentiation and intermediate filament organization. Located in extracellular exosome. Part of keratin filament.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: HA6; hair keratin, type I Ha6; hHa6; K36; keratin 36, type I; keratin, hair, acidic, 6; keratin, type I cuticular Ha6; keratin-36; KRTHA6
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
GRCh381741,486,136 - 41,489,910 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1741,486,136 - 41,492,546 (-)EnsemblGRCh38hg38GRCh38
GRCh371739,642,388 - 39,646,162 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361736,895,914 - 36,899,642 (-)NCBINCBI36Build 36hg18NCBI36
Build 341736,896,153 - 36,899,642NCBI
Celera1736,295,609 - 36,299,337 (-)NCBICelera
Cytogenetic Map17q21.2NCBI
HuRef1735,406,001 - 35,409,729 (-)NCBIHuRef
CHM1_11739,877,699 - 39,881,427 (-)NCBICHM1_1
T2T-CHM13v2.01742,341,680 - 42,345,454 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:7686952   PMID:7979242   PMID:9756910   PMID:10391933   PMID:12477932   PMID:16831889   PMID:17081983   PMID:17353931   PMID:19380743   PMID:19615732   PMID:20804422   PMID:21145461  
PMID:21832049   PMID:21873635   PMID:23533145   PMID:23686814   PMID:25260751   PMID:28038473   PMID:29845934   PMID:32296183   PMID:33838681   PMID:36949045  


Genomics

Comparative Map Data
KRT36
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381741,486,136 - 41,489,910 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1741,486,136 - 41,492,546 (-)EnsemblGRCh38hg38GRCh38
GRCh371739,642,388 - 39,646,162 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361736,895,914 - 36,899,642 (-)NCBINCBI36Build 36hg18NCBI36
Build 341736,896,153 - 36,899,642NCBI
Celera1736,295,609 - 36,299,337 (-)NCBICelera
Cytogenetic Map17q21.2NCBI
HuRef1735,406,001 - 35,409,729 (-)NCBIHuRef
CHM1_11739,877,699 - 39,881,427 (-)NCBICHM1_1
T2T-CHM13v2.01742,341,680 - 42,345,454 (-)NCBIT2T-CHM13v2.0
Krt36
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391199,992,838 - 100,000,301 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1199,992,833 - 99,996,452 (-)EnsemblGRCm39 Ensembl
GRCm3811100,102,012 - 100,109,487 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl11100,102,007 - 100,105,626 (-)EnsemblGRCm38mm10GRCm38
MGSCv371199,963,326 - 99,966,940 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361199,918,102 - 99,922,198 (-)NCBIMGSCv36mm8
Celera11110,718,395 - 110,722,009 (-)NCBICelera
Cytogenetic Map11DNCBI
cM Map1163.41NCBI
Krt36
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81085,536,779 - 85,540,403 (-)NCBIGRCr8
mRatBN7.21085,036,379 - 85,040,003 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1085,036,594 - 85,039,959 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1090,054,555 - 90,057,920 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01089,552,947 - 89,556,312 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01084,944,899 - 84,948,264 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01088,016,602 - 88,019,967 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1088,016,602 - 88,019,967 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01087,809,278 - 87,812,643 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41089,041,712 - 89,045,077 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11089,056,081 - 89,059,447 (-)NCBI
Celera1083,755,940 - 83,759,305 (-)NCBICelera
Cytogenetic Map10q31NCBI
Krt36
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495545115,828,596 - 15,837,892 (-)NCBIChiLan1.0ChiLan1.0
KRT36
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21923,494,227 - 23,498,777 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11725,384,200 - 25,388,749 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01715,824,312 - 15,830,729 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11716,041,753 - 16,048,162 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1716,041,753 - 16,048,162 (+)Ensemblpanpan1.1panPan2
KRT36
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1921,278,755 - 21,282,664 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl921,276,821 - 21,282,465 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha920,740,724 - 20,744,380 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0921,999,875 - 22,003,523 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl921,997,748 - 22,003,579 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1920,785,884 - 20,789,533 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0921,051,907 - 21,055,562 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0921,155,714 - 21,159,370 (+)NCBIUU_Cfam_GSD_1.0
Krt36
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560220,666,864 - 20,681,307 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493649016,404,824 - 16,408,225 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493649016,394,193 - 16,408,224 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KRT36
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1221,149,430 - 21,160,456 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11221,155,419 - 21,162,458 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21221,456,667 - 21,470,952 (-)NCBISscrofa10.2Sscrofa10.2susScr3
KRT36
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11664,750,775 - 64,755,040 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1664,751,464 - 64,754,799 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607735,596,209 - 35,600,299 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Krt36
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247952,117,590 - 2,120,537 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247952,108,955 - 2,120,627 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in KRT36
32 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 copy number gain See cases [RCV000050957] Chr17:36449220..68170214 [GRCh38]
Chr17:48563237..65936105 [GRCh37]
Chr17:45918236..63677950 [NCBI36]
Chr17:17q21.33-24.2		 pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3		 pathogenic
GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3 copy number gain See cases [RCV000052479] Chr17:39199873..45629579 [GRCh38]
Chr17:37356126..43706945 [GRCh37]
Chr17:34609652..41062728 [NCBI36]
Chr17:17q12-21.31		 pathogenic
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 copy number gain See cases [RCV000137437] Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1		 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_003771.5(KRT36):c.1222C>A (p.Pro408Thr) single nucleotide variant not specified [RCV004290831] Chr17:41486558 [GRCh38]
Chr17:39642810 [GRCh37]
Chr17:17q21.2		 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 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
NM_003771.5(KRT36):c.94C>A (p.Arg32Ser) single nucleotide variant not specified [RCV004301516] Chr17:41489771 [GRCh38]
Chr17:39646023 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_003771.5(KRT36):c.377A>G (p.Gln126Arg) single nucleotide variant not provided [RCV000957589] Chr17:41489488 [GRCh38]
Chr17:39645740 [GRCh37]
Chr17:17q21.2		 benign
NM_003771.5(KRT36):c.356C>T (p.Ala119Val) single nucleotide variant not provided [RCV000957590] Chr17:41489509 [GRCh38]
Chr17:39645761 [GRCh37]
Chr17:17q21.2		 benign
NM_003771.5(KRT36):c.920C>T (p.Thr307Met) single nucleotide variant not specified [RCV004297248] Chr17:41487418 [GRCh38]
Chr17:39643670 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_003771.5(KRT36):c.761C>G (p.Pro254Arg) single nucleotide variant not specified [RCV004208479] Chr17:41487676 [GRCh38]
Chr17:39643928 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_003771.5(KRT36):c.497T>C (p.Leu166Pro) single nucleotide variant not specified [RCV004138939] Chr17:41488687 [GRCh38]
Chr17:39644939 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_003771.5(KRT36):c.383G>C (p.Trp128Ser) single nucleotide variant not specified [RCV004162112] Chr17:41489482 [GRCh38]
Chr17:39645734 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_003771.5(KRT36):c.349G>A (p.Glu117Lys) single nucleotide variant not specified [RCV004178474] Chr17:41489516 [GRCh38]
Chr17:39645768 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_003771.5(KRT36):c.1299C>G (p.Cys433Trp) single nucleotide variant not specified [RCV004232973] Chr17:41486481 [GRCh38]
Chr17:39642733 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_003771.5(KRT36):c.980A>C (p.His327Pro) single nucleotide variant not specified [RCV004172069] Chr17:41487358 [GRCh38]
Chr17:39643610 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_003771.5(KRT36):c.745G>A (p.Glu249Lys) single nucleotide variant not specified [RCV004228288] Chr17:41487692 [GRCh38]
Chr17:39643944 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_003771.5(KRT36):c.241G>A (p.Gly81Arg) single nucleotide variant not specified [RCV004170630] Chr17:41489624 [GRCh38]
Chr17:39645876 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_003771.5(KRT36):c.95G>A (p.Arg32His) single nucleotide variant not specified [RCV004110537] Chr17:41489770 [GRCh38]
Chr17:39646022 [GRCh37]
Chr17:17q21.2		 likely benign
NM_003771.5(KRT36):c.1180C>T (p.Arg394Cys) single nucleotide variant not specified [RCV004194390] Chr17:41486978 [GRCh38]
Chr17:39643230 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_003771.5(KRT36):c.1102G>T (p.Asp368Tyr) single nucleotide variant not specified [RCV004123683] Chr17:41487056 [GRCh38]
Chr17:39643308 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_003771.5(KRT36):c.1103A>T (p.Asp368Val) single nucleotide variant not specified [RCV004123684] Chr17:41487055 [GRCh38]
Chr17:39643307 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_003771.5(KRT36):c.1271C>T (p.Pro424Leu) single nucleotide variant not specified [RCV004082961] Chr17:41486509 [GRCh38]
Chr17:39642761 [GRCh37]
Chr17:17q21.2		 likely benign
NM_003771.5(KRT36):c.958G>A (p.Glu320Lys) single nucleotide variant not specified [RCV004140110] Chr17:41487380 [GRCh38]
Chr17:39643632 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_003771.5(KRT36):c.335G>A (p.Arg112His) single nucleotide variant not specified [RCV004219063] Chr17:41489530 [GRCh38]
Chr17:39645782 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_003771.5(KRT36):c.1072G>C (p.Val358Leu) single nucleotide variant not specified [RCV004123682] Chr17:41487086 [GRCh38]
Chr17:39643338 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_003771.5(KRT36):c.644C>G (p.Ala215Gly) single nucleotide variant not specified [RCV004075681] Chr17:41488298 [GRCh38]
Chr17:39644550 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_003771.5(KRT36):c.221C>A (p.Thr74Asn) single nucleotide variant not specified [RCV004133743] Chr17:41489644 [GRCh38]
Chr17:39645896 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_003771.5(KRT36):c.316A>G (p.Asn106Asp) single nucleotide variant not specified [RCV004249180] Chr17:41489549 [GRCh38]
Chr17:39645801 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_003771.5(KRT36):c.64G>A (p.Ala22Thr) single nucleotide variant not specified [RCV004260989] Chr17:41489801 [GRCh38]
Chr17:39646053 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_003771.5(KRT36):c.62C>T (p.Thr21Ile) single nucleotide variant not specified [RCV004260686] Chr17:41489803 [GRCh38]
Chr17:39646055 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_003771.5(KRT36):c.830G>T (p.Arg277Leu) single nucleotide variant not specified [RCV004272965] Chr17:41487607 [GRCh38]
Chr17:39643859 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_003771.5(KRT36):c.1326G>T (p.Gln442His) single nucleotide variant not specified [RCV004255160] Chr17:41486454 [GRCh38]
Chr17:39642706 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_003771.5(KRT36):c.236G>T (p.Gly79Val) single nucleotide variant not specified [RCV004250739] Chr17:41489629 [GRCh38]
Chr17:39645881 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_003771.5(KRT36):c.707G>A (p.Ser236Asn) single nucleotide variant not specified [RCV004249874] Chr17:41487730 [GRCh38]
Chr17:39643982 [GRCh37]
Chr17:17q21.2		 likely benign
NM_003771.5(KRT36):c.1051A>T (p.Met351Leu) single nucleotide variant not specified [RCV004352711] Chr17:41487107 [GRCh38]
Chr17:39643359 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_003771.5(KRT36):c.605T>G (p.Ile202Ser) single nucleotide variant not specified [RCV004354342] Chr17:41488337 [GRCh38]
Chr17:39644589 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_003771.5(KRT36):c.1151C>A (p.Ala384Asp) single nucleotide variant not specified [RCV004412352] Chr17:41487007 [GRCh38]
Chr17:39643259 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_003771.5(KRT36):c.1383C>G (p.His461Gln) single nucleotide variant not specified [RCV004412353] Chr17:41486397 [GRCh38]
Chr17:39642649 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_003771.5(KRT36):c.17G>A (p.Cys6Tyr) single nucleotide variant not specified [RCV004412354] Chr17:41489848 [GRCh38]
Chr17:39646100 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_003771.5(KRT36):c.511G>A (p.Ala171Thr) single nucleotide variant not specified [RCV004412355] Chr17:41488673 [GRCh38]
Chr17:39644925 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_003771.5(KRT36):c.539C>T (p.Thr180Ile) single nucleotide variant not specified [RCV004412356] Chr17:41488645 [GRCh38]
Chr17:39644897 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_003771.5(KRT36):c.592G>C (p.Gly198Arg) single nucleotide variant not specified [RCV004412357] Chr17:41488350 [GRCh38]
Chr17:39644602 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_003771.5(KRT36):c.754G>A (p.Ala252Thr) single nucleotide variant not specified [RCV004412358] Chr17:41487683 [GRCh38]
Chr17:39643935 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_003771.5(KRT36):c.795G>C (p.Met265Ile) single nucleotide variant not specified [RCV004412359] Chr17:41487642 [GRCh38]
Chr17:39643894 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_003771.5(KRT36):c.940C>T (p.Arg314Cys) single nucleotide variant not specified [RCV004412360] Chr17:41487398 [GRCh38]
Chr17:39643650 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_003771.5(KRT36):c.857C>T (p.Thr286Ile) single nucleotide variant not specified [RCV004644510] Chr17:41487580 [GRCh38]
Chr17:39643832 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_003771.5(KRT36):c.122G>T (p.Ser41Ile) single nucleotide variant not specified [RCV004644511] Chr17:41489743 [GRCh38]
Chr17:39645995 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_003771.5(KRT36):c.1347G>C (p.Glu449Asp) single nucleotide variant not specified [RCV004644512] Chr17:41486433 [GRCh38]
Chr17:39642685 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_003771.5(KRT36):c.715C>T (p.Arg239Cys) single nucleotide variant not specified [RCV004644513] Chr17:41487722 [GRCh38]
Chr17:39643974 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_003771.5(KRT36):c.764C>A (p.Pro255Gln) single nucleotide variant not specified [RCV004644514] Chr17:41487673 [GRCh38]
Chr17:39643925 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_003771.5(KRT36):c.1270C>T (p.Pro424Ser) single nucleotide variant not specified [RCV004644515] Chr17:41486510 [GRCh38]
Chr17:39642762 [GRCh37]
Chr17:17q21.2		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:577
Count of miRNA genes:273
Interacting mature miRNAs:301
Transcripts:ENST00000328119, ENST00000393986
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.


Sequence


Ensembl Acc Id: ENST00000328119   ⟹   ENSP00000329165
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1741,486,136 - 41,489,910 (-)Ensembl
Ensembl Acc Id: ENST00000393986   ⟹   ENSP00000377555
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1741,486,136 - 41,492,546 (-)Ensembl
RefSeq Acc Id: NM_003771   ⟹   NP_003762
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381741,486,136 - 41,489,910 (-)NCBI
GRCh371739,642,388 - 39,648,799 (-)NCBI
Build 361736,895,914 - 36,899,642 (-)NCBI Archive
Celera1736,295,609 - 36,299,337 (-)RGD
HuRef1735,406,001 - 35,409,729 (-)ENTREZGENE
CHM1_11739,877,699 - 39,881,427 (-)NCBI
T2T-CHM13v2.01742,341,680 - 42,345,454 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_003762 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH43581 (Get FASTA)   NCBI Sequence Viewer  
  CAA76388 (Get FASTA)   NCBI Sequence Viewer  
  EAW60738 (Get FASTA)   NCBI Sequence Viewer  
  EAW60739 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000329165
  ENSP00000329165.6
  ENSP00000377555.2
GenBank Protein O76013 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_003762   ⟸   NM_003771
- UniProtKB: Q86XG4 (UniProtKB/Swiss-Prot),   O76013 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000329165   ⟸   ENST00000328119
Ensembl Acc Id: ENSP00000377555   ⟸   ENST00000393986
Protein Domains
IF rod

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O76013-F1-model_v2 AlphaFold O76013 1-467 view protein structure

Promoters
RGD ID:7234985
Promoter ID:EPDNEW_H23238
Type:multiple initiation site
Name:KRT36_1
Description:keratin 36
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
GRCh381741,492,523 - 41,492,583EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6454 AgrOrtholog
COSMIC KRT36 COSMIC
Ensembl Genes ENSG00000126337 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000328119 ENTREZGENE
  ENST00000328119.11 UniProtKB/Swiss-Prot
  ENST00000393986.2 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.5.170 UniProtKB/Swiss-Prot
  Single helix bin UniProtKB/Swiss-Prot
  Vasodilator-stimulated phosphoprotein UniProtKB/Swiss-Prot
GTEx ENSG00000126337 GTEx
HGNC ID HGNC:6454 ENTREZGENE
Human Proteome Map KRT36 Human Proteome Map
InterPro IF_conserved UniProtKB/Swiss-Prot
  IF_rod_dom UniProtKB/Swiss-Prot
  Keratin_I UniProtKB/Swiss-Prot
KEGG Report hsa:8689 UniProtKB/Swiss-Prot
NCBI Gene 8689 ENTREZGENE
OMIM 604540 OMIM
PANTHER KERATIN, TYPE I CUTICULAR HA6 UniProtKB/Swiss-Prot
  PTHR23239 UniProtKB/Swiss-Prot
Pfam Filament UniProtKB/Swiss-Prot
PharmGKB PA30243 PharmGKB
PRINTS TYPE1KERATIN UniProtKB/Swiss-Prot
PROSITE IF_ROD_1 UniProtKB/Swiss-Prot
  IF_ROD_2 UniProtKB/Swiss-Prot
SMART Filament UniProtKB/Swiss-Prot
Superfamily-SCOP Intermediate filament protein, coiled coil region UniProtKB/Swiss-Prot
  Prefoldin UniProtKB/Swiss-Prot
UniProt KRT36_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q86XG4 ENTREZGENE
UniProt Secondary Q86XG4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-14 KRT36  keratin 36  KRT36  keratin 36, type I  Symbol and/or name change 5135510 APPROVED
2015-01-27 KRT36  keratin 36, type I  KRT36  keratin 36  Symbol and/or name change 5135510 APPROVED