| Disease Name: |
Apolipoprotein A-II associated Amyloidosis |
| ISA Name: |
AApoAII Amyloidosis
|
| Alternative Names: |
- Apolipoprotein A-II amyloidosis
- Familial amyloid nephropathy due to apolipoprotein A-II variant
- Familial renal amyloidosis due to apolipoprotein A-II variant
- Hereditary amyloid nephropathy due to apolipoprotein A-II variant
- Hereditary renal amyloidosis due to apolipoprotein A-II variant
- Hereditary apolipoprotein AII amyloidosis
- Apolipoprotein AII-induced amyloidosis
|
| MeSH Description: |
No information available
|
| Type: |
Amyloidosis
|
| ICD-10 Classification |
Amyloidosis
|
| Tissue: |
Kidney
|
| Precursor Proteins: |
| Primary Name: |
Apolipoprotein A-II
|
| Gene Name: |
APOA2
|
| Alternative Protein Names: |
Apolipoprotein A-II (Apo-AII) (ApoA-II) (Apolipoprotein A2) [Cleaved into: Proapolipoprotein A-II (ProapoA-II); Truncated apolipoprotein A-II (Apolipoprotein A-II(1-76))]
|
| ISA Nomenclature: |
AApoAII
|
| Protein Length: |
100
|
| Precursor Protein Sequence: |
MKLLAATVLLLTICSLEGALVRRQAKEPCVESLVSQYFQTVTDYGKDLMEKVKSPELQAEAKSYFEKSKEQLTPLIKKAGTELVNFLSYFVELGTQPATQ
|
| UniProt AC: |
P02652
|
| UniProt ID: |
APOA2_HUMAN
|
| AmyPro: |
AP00127
|
|
| Co-deposited Proteins: |
| Primary Name: |
Apolipoprotein E
|
| Gene Name: |
APOE
|
| Association Source: |
29270531
|
| Protein Names: |
Apolipoprotein E (Apo-E)
|
| Protein Length: |
317
|
| Protein Sequence: |
MKVLWAALLVTFLAGCQAKVEQAVETEPEPELRQQTEWQSGQRWELALGRFWDYLRWVQTLSEQVQEELLSSQVTQELRALMDETMKELKAYKSELEEQLTPVAEETRARLSKELQAAQARLGADMEDVCGRLVQYRGEVQAMLGQSTEELRVRLASHLRKLRKRLLRDADDLQKRLAVYQAGAREGAERGLSAIRERLGPLVEQGRVRAATVGSLAGQPLQERAQAWGERLRARMEEMGSRTRDRLDEVKEQVAEVRAKLEEQAQQIRLQAEAFQARLKSWFEPLVEDMQRQWAGLVEKVQAAVGTSAAPVPSDNH
|
| UniProt AC: |
P02649
|
| UniProt ID: |
APOE_HUMAN
|
| Primary Name: |
Serum amyloid P-component
|
| Gene Name: |
APCS
|
| Association Source: |
29270531
|
| Protein Names: |
Serum amyloid P-component (SAP) (9.5S alpha-1-glycoprotein) [Cleaved into: Serum amyloid P-component(1-203)]
|
| Protein Length: |
223
|
| Protein Sequence: |
MNKPLLWISVLTSLLEAFAHTDLSGKVFVFPRESVTDHVNLITPLEKPLQNFTLCFRAYSDLSRAYSLFSYNTQGRDNELLVYKERVGEYSLYIGRHKVTSKVIEKFPAPVHICVSWESSSGIAEFWINGTPLVKKGLRQGYFVEAQPKIVLGQEQDSYGGKFDRSQSFVGEIGDLYMWDSVLPPENILSAYQGTPLPANILDWQALNYEIRGYVIIKPLVWV
|
| UniProt AC: |
P02743
|
| UniProt ID: |
SAMP_HUMAN
|
| Primary Name: |
Apolipoprotein A-IV
|
| Gene Name: |
APOA4
|
| Association Source: |
29270531
|
| Protein Names: |
Apolipoprotein A-IV (Apo-AIV) (ApoA-IV) (Apolipoprotein A4)
|
| Protein Length: |
396
|
| Protein Sequence: |
MFLKAVVLTLALVAVAGARAEVSADQVATVMWDYFSQLSNNAKEAVEHLQKSELTQQLNALFQDKLGEVNTYAGDLQKKLVPFATELHERLAKDSEKLKEEIGKELEELRARLLPHANEVSQKIGDNLRELQQRLEPYADQLRTQVNTQAEQLRRQLTPYAQRMERVLRENADSLQASLRPHADELKAKIDQNVEELKGRLTPYADEFKVKIDQTVEELRRSLAPYAQDTQEKLNHQLEGLTFQMKKNAEELKARISASAEELRQRLAPLAEDVRGNLRGNTEGLQKSLAELGGHLDQQVEEFRRRVEPYGENFNKALVQQMEQLRQKLGPHAGDVEGHLSFLEKDLRDKVNSFFSTFKEKESQDKTLSLPELEQQQEQQQEQQQEQVQMLAPLES
|
| UniProt AC: |
P06727
|
| UniProt ID: |
APOA4_HUMAN
|
| Primary Name: |
Actin, cytoplasmic 1
|
| Gene Name: |
ACTB
|
| Association Source: |
29270531
|
| Protein Names: |
Actin, cytoplasmic 1 (Beta-actin) [Cleaved into: Actin, cytoplasmic 1, N-terminally processed]
|
| Protein Length: |
375
|
| Protein Sequence: |
MDDDIAALVVDNGSGMCKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIVTNWDDMEKIWHHTFYNELRVAPEEHPVLLTEAPLNPKANREKMTQIMFETFNTPAMYVAIQAVLSLYASGRTTGIVMDSGDGVTHTVPIYEGYALPHAILRLDLAGRDLTDYLMKILTERGYSFTTTAEREIVRDIKEKLCYVALDFEQEMATAASSSSLEKSYELPDGQVITIGNERFRCPEALFQPSFLGMESCGIHETTFNSIMKCDVDIRKDLYANTVLSGGTTMYPGIADRMQKEITALAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWISKQEYDESGPSIVHRKCF
|
| UniProt AC: |
P60709
|
| UniProt ID: |
ACTB_HUMAN
|
|
