|
UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
|
O75531 |
| Protein name |
Barrier-to-autointegration factor (Breakpoint cluster region protein 1) [Cleaved into: Barrier-to-autointegration factor, N-terminally processed] |
| Protein function |
Non-specific DNA-binding protein that plays key roles in mitotic nuclear reassembly, chromatin organization, DNA damage response, gene expression and intrinsic immunity against foreign DNA (PubMed:10908652, PubMed:11792822, PubMed:12163470, PubM |
| PDB |
1CI4
, 1QCK
, 2BZF
, 2EZX
, 2EZY
, 2EZZ
, 2ODG
, 6GHD
, 6RPR
, 6UNT
, 6URE
, 6URJ
, 6URK
, 6URL
, 6URN
, 6URR
, 6URZ
, 6US0
, 6US1
, 6US7
, 6USB
, 6USD
, 6USI
, 7ABM
, 7NDY
, 7Z21
, 9J8M
, 9J8N
, 9J8O
|
| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
| PF02961 |
BAF |
1 → 88 |
Barrier to autointegration factor |
Domain |
|
| Tissue specificity |
TISSUE SPECIFICITY: Widely expressed. Expressed in colon, brain, heart, kidney, liver, lung, ovary, pancreas, placenta, prostate, skeletal muscle, small intestine, spleen and testis. Not detected in thymus and peripheral blood leukocytes. {ECO:0000269|Pub |
| Sequence |
|
| Sequence length |
89 |
| Interactions |
View interactions |
| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Nestor-Guillermo progeria syndrome |
Uncertain significance; Likely benign; Benign; no classifications from unflagged records |
rs886048511, rs373907315, rs117774800, rs78790365, rs781260209, rs1786171, rs886048514, rs150372514, rs148797275, rs142270527, rs886048513, rs886048515, rs886048516, rs144367403, rs886048519, rs141605220, rs14157, rs35208625, rs886048512, rs886048517, rs886048518, rs387906871, rs140057395, rs1338388711, rs145574018, rs1478691828, rs1856076940, rs554069413 View all (13 more) |
RCV000306436 RCV000305201 RCV000357516 RCV000320141 RCV000372439 RCV000333092 RCV000389669 RCV000291630 RCV000343190 RCV000303532 RCV000266406 RCV000293232 RCV000384007 RCV000304578 RCV000394318 RCV000265206 RCV000261504 RCV000350471 RCV000363414 RCV000344282 RCV000402630 RCV000023343 RCV001107494 RCV001107492 RCV001103861 RCV001103862 RCV001103863 RCV001107493 |
|
| Disease Name |
Relationship Type |
References |
| Aging Premature |
Associate |
33660778, 36980188 |
| Blood Coagulation Disorders Inherited |
Associate |
21549337 |
| Breast Neoplasms |
Stimulate |
40664994 |
| Carcinogenesis |
Associate |
31392992 |
| Carcinoma Hepatocellular |
Associate |
29397868 |
| Carcinoma Pancreatic Ductal |
Associate |
37432996 |
| Cataract Age Related Nuclear |
Associate |
21549337 |
| Coffin Siris syndrome |
Associate |
33799280, 36352633 |
| Developmental Disabilities |
Associate |
33799280, 34753942, 34906496 |
| Disease |
Associate |
36980188 |
| Fever |
Stimulate |
30909744 |
| Glioma |
Associate |
30333046 |
| Heart Defects Congenital |
Associate |
35241061 |
| Intellectual Disability |
Associate |
24674232, 28649782, 30580808 |
| Leukemia Myeloid Accelerated Phase |
Associate |
35269487 |
| Muscular Atrophy Spinal |
Associate |
36980188 |
| Neoplasms |
Associate |
27941796, 28844694, 28945250, 30333046, 30397315, 31178587, 31392992, 31427792, 32376391, 33058778, 34687603, 35022313, 36746947, 37094128, 40664994 |
| Neoplastic Syndromes Hereditary |
Associate |
21549337 |
| Neurologic Manifestations |
Associate |
34687603 |
| Neuromuscular Diseases |
Associate |
36980188 |
| Neuronal Ceroid Lipofuscinoses |
Associate |
35506243 |
| Nicolaides Baraitser syndrome |
Associate |
37551667 |
| Parkinson Disease |
Associate |
36813848 |
| Progeria |
Associate |
21549337, 26701887, 35269487 |
| Progeroid syndrome neonatal |
Associate |
21549337, 24265311, 30137533, 31796734 |
| Prostatic Neoplasms |
Associate |
33323379 |
| Prostatic Neoplasms Castration Resistant |
Associate |
35022313 |
| Prostatitis |
Associate |
33323379 |
| Rhabdomyosarcoma |
Associate |
34836971 |
| Sarcoma Ewing |
Associate |
28844694, 31392992 |
| Sarcoma Synovial |
Associate |
29894696, 36920288 |
| Triple Negative Breast Neoplasms |
Associate |
35022313, 36142814, 40664994 |
| Virus Diseases |
Associate |
36746947 |
|