KHDC1L (KH domain containing 1 like) - Rat Genome Database

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Gene: KHDC1L (KH domain containing 1 like) Homo sapiens
Analyze
Symbol: KHDC1L
Name: KH domain containing 1 like
RGD ID: 3340258
HGNC Page HGNC:37274
Description: Predicted to enable RNA binding activity and identical protein binding activity. Predicted to act upstream of or within positive regulation of cysteine-type endopeptidase activity. Predicted to be active in cytoplasm.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: KH homology domain containing 1-like; putative KHDC1-like protein; RP11-257K9.7
RGD Orthologs
Mouse
Bonobo
Squirrel
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
GRCh38673,223,544 - 73,225,496 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl673,223,544 - 73,225,770 (-)EnsemblGRCh38hg38GRCh38
GRCh37673,933,267 - 73,935,219 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36673,989,988 - 73,991,896 (-)NCBINCBI36Build 36hg18NCBI36
Celera674,326,519 - 74,328,427 (-)NCBICelera
Cytogenetic Map6q13NCBI
HuRef671,131,973 - 71,133,881 (-)NCBIHuRef
CHM1_1674,100,118 - 74,102,023 (-)NCBICHM1_1
T2T-CHM13v2.0674,400,206 - 74,402,158 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
sialuria  (IAGP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IBA,ISO)

Molecular Function

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:14702039   PMID:21873635   PMID:36734243  


Genomics

Comparative Map Data
KHDC1L
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38673,223,544 - 73,225,496 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl673,223,544 - 73,225,770 (-)EnsemblGRCh38hg38GRCh38
GRCh37673,933,267 - 73,935,219 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36673,989,988 - 73,991,896 (-)NCBINCBI36Build 36hg18NCBI36
Celera674,326,519 - 74,328,427 (-)NCBICelera
Cytogenetic Map6q13NCBI
HuRef671,131,973 - 71,133,881 (-)NCBIHuRef
CHM1_1674,100,118 - 74,102,023 (-)NCBICHM1_1
T2T-CHM13v2.0674,400,206 - 74,402,158 (-)NCBIT2T-CHM13v2.0
Khdc1b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39121,453,780 - 21,456,608 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl121,453,780 - 21,456,597 (+)EnsemblGRCm39 Ensembl
GRCm38121,383,556 - 21,386,384 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl121,383,556 - 21,386,373 (+)EnsemblGRCm38mm10GRCm38
MGSCv37121,373,637 - 21,376,465 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36121,368,709 - 21,371,539 (+)NCBIMGSCv36mm8
Celera121,265,458 - 21,268,285 (+)NCBICelera
Cytogenetic Map1A4NCBI
cM Map16.64NCBI
KHDC1L
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2593,202,517 - 93,242,507 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1691,128,419 - 91,168,254 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0671,049,965 - 71,089,548 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1674,340,775 - 74,342,371 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl674,340,775 - 74,342,371 (-)Ensemblpanpan1.1panPan2
Khdc1l
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494670,666,899 - 70,667,409 (+)NCBIHiC_Itri_2
SpeTri2.0NW_0049420183,096 - 3,557 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KHDC1L
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1171,902,568 - 1,907,152 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660587,825,363 - 7,827,219 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in KHDC1L
7 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001126063.2(KHDC1L):c.366G>A (p.Leu122=) single nucleotide variant Malignant melanoma [RCV000067448] Chr6:73223769 [GRCh38]
Chr6:73933492 [GRCh37]
Chr6:73990213 [NCBI36]
Chr6:6q13		 not provided
NM_001126063.2(KHDC1L):c.22C>T (p.Leu8Phe) single nucleotide variant Malignant melanoma [RCV000061476] Chr6:73225387 [GRCh38]
Chr6:73935110 [GRCh37]
Chr6:73991831 [NCBI36]
Chr6:6q13		 not provided
GRCh38/hg38 6q12-14.2(chr6:64549655-83426791)x1 copy number loss See cases [RCV000142527] Chr6:64549655..83426791 [GRCh38]
Chr6:65259548..84136510 [GRCh37]
Chr6:65316269..84193229 [NCBI36]
Chr6:6q12-14.2		 pathogenic
GRCh38/hg38 6q13(chr6:72988135-73225292)x1 copy number loss Premature ovarian failure [RCV000225210] Chr6:72988135..73225292 [GRCh38]
Chr6:73697858..73935015 [GRCh37]
Chr6:6q13		 uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6q13-14.2(chr6:73674612-84829774)x1 copy number loss not provided [RCV000682681] Chr6:73674612..84829774 [GRCh37]
Chr6:6q13-14.2		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367) copy number gain not provided [RCV000767714] Chr6:29455465..81447367 [GRCh37]
Chr6:6p22.1-q14.1		 pathogenic
GRCh37/hg19 6q13(chr6:73881985-74138519)x3 copy number gain not provided [RCV001005813] Chr6:73881985..74138519 [GRCh37]
Chr6:6q13		 uncertain significance
NC_000006.11:g.(?_72596727)_(74363609_?)del deletion Salla disease [RCV001384240] Chr6:72596727..74363609 [GRCh37]
Chr6:6q13		 pathogenic
GRCh37/hg19 6q13-14.1(chr6:72799054-83275894)x1 copy number loss not provided [RCV001829197] Chr6:72799054..83275894 [GRCh37]
Chr6:6q13-14.1		 pathogenic
GRCh37/hg19 6q13-14.1(chr6:70165296-79920769)x1 copy number loss not provided [RCV001834215] Chr6:70165296..79920769 [GRCh37]
Chr6:6q13-14.1		 pathogenic
GRCh37/hg19 6q12-16.1(chr6:69938252-94379210) copy number gain not specified [RCV002053581] Chr6:69938252..94379210 [GRCh37]
Chr6:6q12-16.1		 pathogenic
NC_000006.11:g.(?_73879449)_(74210458_?)dup duplication not provided [RCV001928023] Chr6:73879449..74210458 [GRCh37]
Chr6:6q13		 uncertain significance
GRCh37/hg19 6q13(chr6:71105038-75200617)x1 copy number loss Autism [RCV002292213] Chr6:71105038..75200617 [GRCh37]
Chr6:6q13		 pathogenic
GRCh37/hg19 6q12-14.1(chr6:64954687-79581678) copy number loss Chromosome 6q11-q14 deletion syndrome [RCV002280752] Chr6:64954687..79581678 [GRCh37]
Chr6:6q12-14.1		 pathogenic
NM_001126063.3(KHDC1L):c.316G>A (p.Val106Ile) single nucleotide variant not specified [RCV004114080] Chr6:73223819 [GRCh38]
Chr6:73933542 [GRCh37]
Chr6:6q13		 uncertain significance
NM_001126063.3(KHDC1L):c.377C>A (p.Thr126Asn) single nucleotide variant not specified [RCV004228629] Chr6:73223758 [GRCh38]
Chr6:73933481 [GRCh37]
Chr6:6q13		 uncertain significance
NM_001126063.3(KHDC1L):c.292C>G (p.Arg98Gly) single nucleotide variant not specified [RCV004177282] Chr6:73224169 [GRCh38]
Chr6:73933892 [GRCh37]
Chr6:6q13		 uncertain significance
NM_001126063.3(KHDC1L):c.371C>G (p.Pro124Arg) single nucleotide variant not specified [RCV004201026] Chr6:73223764 [GRCh38]
Chr6:73933487 [GRCh37]
Chr6:6q13		 uncertain significance
GRCh37/hg19 6q13(chr6:73879839-74610369)x3 copy number gain not provided [RCV003484643] Chr6:73879839..74610369 [GRCh37]
Chr6:6q13		 uncertain significance
NM_001126063.3(KHDC1L):c.358G>T (p.Val120Phe) single nucleotide variant not specified [RCV004409252] Chr6:73223777 [GRCh38]
Chr6:73933500 [GRCh37]
Chr6:6q13		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:387
Count of miRNA genes:348
Interacting mature miRNAs:371
Transcripts:ENST00000370388, ENST00000471312
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1298452OSTEAR16_HOsteoarthritis QTL 16 (human)1.850.0016Joint/bone inflammationhip osteoarthritis65725907283259072Human

Markers in Region
ECD02404  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37673,952,137 - 73,952,973UniSTSGRCh37
GRCh37673,935,028 - 73,935,858UniSTSGRCh37
Build 36673,991,749 - 73,992,579RGDNCBI36
Celera674,345,389 - 74,346,225UniSTS
Celera674,328,280 - 74,329,110RGD
Cytogenetic Map6q13UniSTS
HuRef671,118,293 - 71,119,159UniSTS
HuRef671,133,734 - 71,134,564UniSTS
HuRef671,150,801 - 71,151,637UniSTS
ECD04420  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37673,933,442 - 73,934,206UniSTSGRCh37
Build 36673,990,163 - 73,990,927RGDNCBI36
Celera674,326,694 - 74,327,458RGD
Cytogenetic Map6q13UniSTS
HuRef671,132,148 - 71,132,912UniSTS
ECD04904  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37673,950,878 - 73,951,628UniSTSGRCh37
GRCh37673,932,938 - 73,933,740UniSTSGRCh37
Build 36673,989,659 - 73,990,461RGDNCBI36
Celera674,344,130 - 74,344,880UniSTS
Celera674,326,190 - 74,326,992RGD
Cytogenetic Map6q13UniSTS
HuRef671,131,644 - 71,132,446UniSTS
ECD22280  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37673,936,180 - 73,936,403UniSTSGRCh37
Build 36673,992,901 - 73,993,124RGDNCBI36
Celera674,329,432 - 74,329,655RGD
Cytogenetic Map6q13UniSTS
HuRef671,134,886 - 71,135,109UniSTS
REN31928  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37673,933,153 - 73,933,402UniSTSGRCh37
GRCh37673,918,471 - 73,918,726UniSTSGRCh37
Build 36673,975,192 - 73,975,447RGDNCBI36
Celera674,311,618 - 74,311,873RGD
Celera674,326,405 - 74,326,654UniSTS
Cytogenetic Map6q13UniSTS
HuRef671,117,075 - 71,117,330UniSTS
HuRef671,131,859 - 71,132,108UniSTS
REN31990  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37673,932,831 - 73,933,105UniSTSGRCh37
Build 36673,989,552 - 73,989,826RGDNCBI36
Celera674,326,083 - 74,326,357RGD
Cytogenetic Map6q13UniSTS
HuRef671,131,537 - 71,131,811UniSTS
REN31991  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37673,933,083 - 73,933,347UniSTSGRCh37
Build 36673,989,804 - 73,990,068RGDNCBI36
Celera674,326,335 - 74,326,599RGD
Cytogenetic Map6q13UniSTS
HuRef671,131,789 - 71,132,053UniSTS
REN31992  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37673,933,320 - 73,933,569UniSTSGRCh37
Build 36673,990,041 - 73,990,290RGDNCBI36
Celera674,326,572 - 74,326,821RGD
Cytogenetic Map6q13UniSTS
HuRef671,132,026 - 71,132,275UniSTS
REN31993  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37673,933,549 - 73,933,813UniSTSGRCh37
Build 36673,990,270 - 73,990,534RGDNCBI36
Celera674,326,801 - 74,327,065RGD
Cytogenetic Map6q13UniSTS
HuRef671,132,255 - 71,132,519UniSTS
REN31994  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37673,933,788 - 73,934,025UniSTSGRCh37
Build 36673,990,509 - 73,990,746RGDNCBI36
Celera674,327,040 - 74,327,277RGD
Cytogenetic Map6q13UniSTS
HuRef671,132,494 - 71,132,731UniSTS
REN31995  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37673,933,989 - 73,934,237UniSTSGRCh37
Build 36673,990,710 - 73,990,958RGDNCBI36
Celera674,327,241 - 74,327,489RGD
Cytogenetic Map6q13UniSTS
HuRef671,132,695 - 71,132,943UniSTS
REN31996  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37673,934,793 - 73,935,055UniSTSGRCh37
Build 36673,991,514 - 73,991,776RGDNCBI36
Celera674,328,045 - 74,328,307RGD
Cytogenetic Map6q13UniSTS
HuRef671,133,499 - 71,133,761UniSTS
REN31997  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37673,935,053 - 73,935,306UniSTSGRCh37
Build 36673,991,774 - 73,992,027RGDNCBI36
Celera674,328,305 - 74,328,558RGD
Cytogenetic Map6q13UniSTS
HuRef671,133,759 - 71,134,012UniSTS
REN31998  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37673,935,282 - 73,935,524UniSTSGRCh37
Build 36673,992,003 - 73,992,245RGDNCBI36
Celera674,328,534 - 74,328,776RGD
Cytogenetic Map6q13UniSTS
HuRef671,133,988 - 71,134,230UniSTS
REN31999  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37673,935,501 - 73,935,732UniSTSGRCh37
Build 36673,992,222 - 73,992,453RGDNCBI36
Celera674,328,753 - 74,328,984RGD
Cytogenetic Map6q13UniSTS
HuRef671,134,207 - 71,134,438UniSTS
REN32000  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37673,935,710 - 73,935,964UniSTSGRCh37
Build 36673,992,431 - 73,992,685RGDNCBI36
Celera674,328,962 - 74,329,216RGD
Cytogenetic Map6q13UniSTS
HuRef671,134,416 - 71,134,670UniSTS
REN32001  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37673,935,788 - 73,936,031UniSTSGRCh37
Build 36673,992,509 - 73,992,752RGDNCBI36
Celera674,329,040 - 74,329,283RGD
Cytogenetic Map6q13UniSTS
HuRef671,134,494 - 71,134,737UniSTS
REN32002  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37673,936,009 - 73,936,259UniSTSGRCh37
Build 36673,992,730 - 73,992,980RGDNCBI36
Celera674,329,261 - 74,329,511RGD
Cytogenetic Map6q13UniSTS
HuRef671,134,715 - 71,134,965UniSTS
REN32003  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37673,936,237 - 73,936,471UniSTSGRCh37
Build 36673,992,958 - 73,993,192RGDNCBI36
Celera674,329,489 - 74,329,723RGD
Cytogenetic Map6q13UniSTS
HuRef671,134,943 - 71,135,177UniSTS
REN32004  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37673,936,384 - 73,936,623UniSTSGRCh37
Build 36673,993,105 - 73,993,344RGDNCBI36
Celera674,329,636 - 74,329,875RGD
Cytogenetic Map6q13UniSTS
HuRef671,135,090 - 71,135,329UniSTS
REN32005  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37673,936,607 - 73,936,843UniSTSGRCh37
Build 36673,993,328 - 73,993,564RGDNCBI36
Celera674,329,859 - 74,330,095RGD
Cytogenetic Map6q13UniSTS
HuRef671,135,313 - 71,135,550UniSTS
REN32006  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37673,936,856 - 73,937,098UniSTSGRCh37
Build 36673,993,577 - 73,993,819RGDNCBI36
Celera674,330,108 - 74,330,350RGD
Cytogenetic Map6q13UniSTS
HuRef671,135,563 - 71,135,805UniSTS
stSG625742  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37673,933,812 - 73,935,201UniSTSGRCh37
Build 36673,990,533 - 73,991,922RGDNCBI36
Celera674,327,064 - 74,328,453RGD
Cytogenetic Map6q13UniSTS
HuRef671,132,518 - 71,133,907UniSTS
stSG625743  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37673,935,182 - 73,936,257UniSTSGRCh37
Build 36673,991,903 - 73,992,978RGDNCBI36
Celera674,328,434 - 74,329,509RGD
Cytogenetic Map6q13UniSTS
HuRef671,133,888 - 71,134,963UniSTS


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
679 1586 1671 1514 4010 1073 1507 3 166 824 72 1236 3654 3759 41 3590 543 1550 1190 106

Sequence


Ensembl Acc Id: ENST00000370388   ⟹   ENSP00000359415
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl673,223,544 - 73,225,496 (-)Ensembl
Ensembl Acc Id: ENST00000471312
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl673,224,256 - 73,225,770 (-)Ensembl
RefSeq Acc Id: NM_001126063   ⟹   NP_001119535
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38673,223,544 - 73,225,496 (-)NCBI
GRCh37673,933,267 - 73,935,175 (-)RGD
Celera674,326,519 - 74,328,427 (-)RGD
HuRef671,131,973 - 71,133,881 (-)RGD
CHM1_1674,100,118 - 74,102,023 (-)NCBI
T2T-CHM13v2.0674,400,206 - 74,402,158 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001119535 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000359415
  ENSP00000359415.3
GenBank Protein Q5JSQ8 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001119535   ⟸   NM_001126063
- UniProtKB: E1P535 (UniProtKB/Swiss-Prot),   Q5JSQ8 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000359415   ⟸   ENST00000370388

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q5JSQ8-F1-model_v2 AlphaFold Q5JSQ8 1-128 view protein structure

Promoters
RGD ID:7208487
Promoter ID:EPDNEW_H9987
Type:initiation region
Name:KHDC1L_2
Description:KH domain containing 1 like
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H9988  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38673,224,365 - 73,224,425EPDNEW
RGD ID:7208483
Promoter ID:EPDNEW_H9988
Type:initiation region
Name:KHDC1L_1
Description:KH domain containing 1 like
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H9987  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38673,225,477 - 73,225,537EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:37274 AgrOrtholog
COSMIC KHDC1L COSMIC
Ensembl Genes ENSG00000256980 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000370388 ENTREZGENE
  ENST00000370388.4 UniProtKB/Swiss-Prot
Gene3D-CATH 3.30.1370.10 UniProtKB/Swiss-Prot
GTEx ENSG00000256980 GTEx
HGNC ID HGNC:37274 ENTREZGENE
Human Proteome Map KHDC1L Human Proteome Map
InterPro KH_dom_type_1_sf UniProtKB/Swiss-Prot
  MOEP19_KH-like UniProtKB/Swiss-Prot
KEGG Report hsa:100129128 UniProtKB/Swiss-Prot
NCBI Gene 100129128 ENTREZGENE
PANTHER DEVELOPMENT PLURPOTENCY-ASSOCIATED PROTEIN 1/5 FAMILY MEMBER UniProtKB/Swiss-Prot
  KHDC1-LIKE PROTEIN-RELATED UniProtKB/Swiss-Prot
Pfam MOEP19 UniProtKB/Swiss-Prot
PharmGKB PA165617988 PharmGKB
UniProt E1P535 ENTREZGENE
  KHDCL_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary E1P535 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-21 KHDC1L  KH domain containing 1 like    KH homology domain containing 1-like  Symbol and/or name change 5135510 APPROVED