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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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P29375 |
| Protein name |
Lysine-specific demethylase 5A (EC 1.14.11.67) (Histone demethylase JARID1A) (Jumonji/ARID domain-containing protein 1A) (Retinoblastoma-binding protein 2) (RBBP-2) ([histone H3]-trimethyl-L-lysine(4) demethylase 5A) |
| Protein function |
Histone demethylase that specifically demethylates 'Lys-4' of histone H3, thereby playing a central role in histone code. Does not demethylate histone H3 'Lys-9', H3 'Lys-27', H3 'Lys-36', H3 'Lys-79' or H4 'Lys-20'. Demethylates trimethylated a |
| PDB |
2JXJ
, 2KGG
, 2KGI
, 3GL6
, 5C11
, 5CEH
, 5E6H
, 5ISL
, 5IVB
, 5IVC
, 5IVE
, 5IVF
, 5IVJ
, 5IVV
, 5IVY
, 5IW0
, 5IWF
, 5K4L
, 5V9P
, 5V9T
, 6BGU
, 6BGV
, 6BGW
, 6BGX
, 6BGY
, 6BGZ
, 6BH0
, 6BH1
, 6BH2
, 6BH3
, 6BH4
, 6BH5
, 6DQ4
, 6DQ5
, 6DQ6
, 6DQ7
, 6DQ8
, 6DQ9
, 6DQA
, 6DQB
, 6DQC
, 6DQD
, 6DQE
, 6DQF
, 7KLO
, 7KLR
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| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
| PF02375 |
JmjN |
20 → 53 |
jmjN domain |
Family |
| PF01388 |
ARID |
86 → 170 |
ARID/BRIGHT DNA binding domain |
Domain |
| PF00628 |
PHD |
295 → 343 |
PHD-finger |
Domain |
| PF02373 |
JmjC |
470 → 586 |
JmjC domain, hydroxylase |
Domain |
| PF02928 |
zf-C5HC2 |
676 → 728 |
C5HC2 zinc finger |
Domain |
| PF08429 |
PLU-1 |
741 → 1072 |
PLU-1-like protein |
Family |
| PF00628 |
PHD |
1163 → 1218 |
PHD-finger |
Domain |
|
| Sequence |
|
| Sequence length |
1690 |
| Interactions |
View interactions |
|
|
| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Acute myeloid leukemia |
Likely benign |
rs201675393 |
RCV005937012 |
| Colon adenocarcinoma |
Likely benign |
rs201675393 |
RCV005937011 |
| Familial cancer of breast |
Likely benign |
rs201675393 |
RCV005937010 |
| Gastric cancer |
Likely benign; Benign |
rs372406233, rs144276601, rs2229352 |
RCV005938767 RCV005910051 RCV005910351 |
| Hepatocellular carcinoma |
Benign; Likely benign |
rs144276601, rs2229352 |
RCV005910049 RCV005910348 |
| KDM5A-associated neurodevelopmental syndrome |
Uncertain significance |
rs773333271 |
RCV002275596 |
| KDM5A-related disorder |
Uncertain significance; Likely benign; Benign |
rs2137419150, rs2498424875, rs376128815, rs371512709, rs201675393, rs60377454, rs375515696, rs372406233, rs74894801, rs201730673, rs112579803, rs114476959, rs201344078 |
RCV003402548 RCV003418965 RCV003403061 RCV003393245 RCV003917025 RCV003909703 RCV003919546 RCV003931482 RCV003931910 RCV003946804 RCV003926055 RCV003940525 RCV003913078 |
| KDM5A-related Neurodevelopmental disorder with autism |
Uncertain significance |
rs781474100 |
RCV001839336 |
| Lung cancer |
Likely benign |
rs372406233 |
RCV005938769 |
| Malignant tumor of esophagus |
Benign; Likely benign |
rs144276601, rs2229352 |
RCV005910050 RCV005910349 |
| Nonpapillary renal cell carcinoma |
Benign |
rs2229352 |
RCV005910350 |
| Sarcoma |
Likely benign |
rs201675393 |
RCV005937013 |
| See cases |
Uncertain significance |
rs200969654, rs2498165780 |
RCV001785229 RCV002467431 |
| Thymoma |
Likely benign |
rs372406233 |
RCV005938768 |
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma of Lung |
Associate |
34270886 |
| Autism Spectrum Disorder |
Associate |
37992166 |
| Breast Neoplasms |
Associate |
23266085, 26841866, 31985200 |
| Carcinogenesis |
Associate |
27224921, 33621431 |
| Carcinoma Hepatocellular |
Associate |
23922798, 28582381, 31985200, 33621431 |
| Carcinoma Non Small Cell Lung |
Associate |
25162518 |
| Carcinoma Pancreatic Ductal |
Associate |
37880235 |
| Carcinoma Renal Cell |
Associate |
29506494, 31160694 |
| Common Variable Immunodeficiency |
Associate |
30723478 |
| Down Syndrome |
Associate |
33832921 |
| Endometrial Neoplasms |
Associate |
38042059 |
| Gastro enteropancreatic neuroendocrine tumor |
Associate |
34647903 |
| Gastroschisis |
Associate |
31075877 |
| Glioblastoma |
Associate |
22291905, 26566863 |
| Heart Diseases |
Associate |
30816197 |
| Hypoxia |
Associate |
33499904 |
| Leukemia |
Associate |
27008505, 37301844 |
| Leukemia Megakaryoblastic Acute |
Associate |
27114462 |
| Leukemia Myelogenous Chronic BCR ABL Positive |
Associate |
25575817 |
| Leukemia Myeloid Acute |
Associate |
36799265, 37301844 |
| Leukemia Promyelocytic Acute |
Associate |
34448811 |
| Lung Neoplasms |
Associate |
31985200 |
| Multiple Myeloma |
Associate |
34258103 |
| Neoplasm Metastasis |
Associate |
27224921, 34270886, 36112263, 37591783 |
| Neoplasms |
Associate |
25162518, 27224921, 28582381, 31985200, 36799265 |
| Pancreatic Neoplasms |
Associate |
33499904, 39239542 |
| Precursor Cell Lymphoblastic Leukemia Lymphoma |
Associate |
27008505 |
| Precursor T Cell Lymphoblastic Leukemia Lymphoma |
Associate |
31612466 |
| Prostatic Neoplasms |
Associate |
31985200 |
| Squamous Cell Carcinoma of Head and Neck |
Associate |
24425785 |
| Stomach Neoplasms |
Associate |
23922798, 27224921, 31985200, 37591783 |
| Triple Negative Breast Neoplasms |
Associate |
36112263 |
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