| Disease Name: |
Apolipoprotein A-I associated Amyloidosis |
| ISA Name: |
AApoAI Amyloidosis
|
| Alternative Names: |
- Apolipoprotein A-I amyloidosis
- Familial amyloid nephropathy due to apolipoprotein A-I variant
- Familial renal amyloidosis due to apolipoprotein A-I variant
- Hereditary amyloid nephropathy due to apolipoprotein A-I variant
- Hereditary renal amyloidosis due to apolipoprotein A-I variant
- Amyloid Polyneuropathy, Iowa Type
- Familial Amyloid Polyneuropathy, Type III
- Type III Familial Amyloid Polyneuropathy
- Iowa Type Amyloid Polyneuropathy
- Non-neuropathic apolipoprotein A-I amyloidosis
- Apolipoprotein AI-derived amyloidosis
- Hereditary apoliporpotein AI-induced amyloidosis
- Hereditary apoliporpotein AI-associated amyloidosis
- Amyloidosis VIII
- Ostertag Type Amyloidosis
- German Type Amyloidosis
- Amyloidosis, Familial renal
- Amyloidosis, Familial visceral
- Amyloidosis, Systemic Non-neuropathic
|
| MeSH Description: |
No information available
|
| Type: |
Amyloidosis
|
| ICD-10 Classification |
Amyloidosis
|
| Tissue: |
Heart, Liver, Skin, Kidney, Intestine, Larynx, Uterus, Ovary Lymph Node, Pelvic Lymph Node
|
| Precursor Proteins: |
| Primary Name: |
Apolipoprotein A-I
|
| Gene Name: |
APOA1
|
| Alternative Protein Names: |
Apolipoprotein A-I (Apo-AI) (ApoA-I) (Apolipoprotein A1) [Cleaved into: Proapolipoprotein A-I (ProapoA-I); Truncated apolipoprotein A-I (Apolipoprotein A-I(1-242))]
|
| ISA Nomenclature: |
AApoAI
|
| Protein Length: |
267
|
| Precursor Protein Sequence: |
MKAAVLTLAVLFLTGSQARHFWQQDEPPQSPWDRVKDLATVYVDVLKDSGRDYVSQFEGSALGKQLNLKLLDNWDSVTSTFSKLREQLGPVTQEFWDNLEKETEGLRQEMSKDLEEVKAKVQPYLDDFQKKWQEEMELYRQKVEPLRAELQEGARQKLHELQEKLSPLGEEMRDRARAHVDALRTHLAPYSDELRQRLAARLEALKENGGARLAEYHAKATEHLSTLSEKAKPALEDLRQGLLPVLESFKVSFLSALEEYTKKLNTQ
|
| UniProt AC: |
P02647
|
| UniProt ID: |
APOA1_HUMAN
|
| AmyPro: |
AP00003
|
|
| Co-deposited Proteins: |
| Primary Name: |
Alpha-1-antitrypsin
|
| Gene Name: |
SERPINA1
|
| Association Source: |
28953655
|
| Protein Names: |
Alpha-1-antitrypsin (Alpha-1 protease inhibitor) (Alpha-1-antiproteinase) (Serpin A1) [Cleaved into: Short peptide from AAT (SPAAT)]
|
| Protein Length: |
418
|
| Protein Sequence: |
MPSSVSWGILLLAGLCCLVPVSLAEDPQGDAAQKTDTSHHDQDHPTFNKITPNLAEFAFSLYRQLAHQSNSTNIFFSPVSIATAFAMLSLGTKADTHDEILEGLNFNLTEIPEAQIHEGFQELLRTLNQPDSQLQLTTGNGLFLSEGLKLVDKFLEDVKKLYHSEAFTVNFGDTEEAKKQINDYVEKGTQGKIVDLVKELDRDTVFALVNYIFFKGKWERPFEVKDTEEEDFHVDQVTTVKVPMMKRLGMFNIQHCKKLSSWVLLMKYLGNATAIFFLPDEGKLQHLENELTHDIITKFLENEDRRSASLHLPKLSITGTYDLKSVLGQLGITKVFSNGADLSGVTEEAPLKLSKAVHKAVLTIDEKGTEAAGAMFLEAIPMSIPPEVKFNKPFVFLMIEQNTKSPLFMGKVVNPTQK
|
| UniProt AC: |
P01009
|
| UniProt ID: |
A1AT_HUMAN
|
| Primary Name: |
Serum amyloid P-component
|
| Gene Name: |
APCS
|
| Association Source: |
19324996
|
| 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: |
Transthyretin
|
| Gene Name: |
TTR
|
| Association Source: |
10854214
|
| Protein Names: |
Transthyretin (ATTR) (Prealbumin) (TBPA)
|
| Protein Length: |
147
|
| Protein Sequence: |
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
|
| UniProt AC: |
P02766
|
| UniProt ID: |
TTHY_HUMAN
|
| Primary Name: |
Serum albumin
|
| Gene Name: |
ALB
|
| Association Source: |
28953655
|
| Protein Names: |
Serum albumin
|
| Protein Length: |
609
|
| Protein Sequence: |
MKWVTFISLLFLFSSAYSRGVFRRDAHKSEVAHRFKDLGEENFKALVLIAFAQYLQQCPFEDHVKLVNEVTEFAKTCVADESAENCDKSLHTLFGDKLCTVATLRETYGEMADCCAKQEPERNECFLQHKDDNPNLPRLVRPEVDVMCTAFHDNEETFLKKYLYEIARRHPYFYAPELLFFAKRYKAAFTECCQAADKAACLLPKLDELRDEGKASSAKQRLKCASLQKFGERAFKAWAVARLSQRFPKAEFAEVSKLVTDLTKVHTECCHGDLLECADDRADLAKYICENQDSISSKLKECCEKPLLEKSHCIAEVENDEMPADLPSLAADFVESKDVCKNYAEAKDVFLGMFLYEYARRHPDYSVVLLLRLAKTYETTLEKCCAAADPHECYAKVFDEFKPLVEEPQNLIKQNCELFEQLGEYKFQNALLVRYTKKVPQVSTPTLVEVSRNLGKVGSKCCKHPEAKRMPCAEDYLSVVLNQLCVLHEKTPVSDRVTKCCTESLVNRRPCFSALEVDETYVPKEFNAETFTFHADICTLSEKERQIKKQTALVELVKHKPKATKEQLKAVMDDFAAFVEKCCKADDKETCFAEEGKKLVAASQAALGL
|
| UniProt AC: |
P02768
|
| UniProt ID: |
ALBU_HUMAN
|
| Primary Name: |
Zinc-alpha-2-glycoprotein
|
| Gene Name: |
AZGP1
|
| Association Source: |
28953655
|
| Protein Names: |
Zinc-alpha-2-glycoprotein (Zn-alpha-2-GP) (Zn-alpha-2-glycoprotein)
|
| Protein Length: |
298
|
| Protein Sequence: |
MVRMVPVLLSLLLLLGPAVPQENQDGRYSLTYIYTGLSKHVEDVPAFQALGSLNDLQFFRYNSKDRKSQPMGLWRQVEGMEDWKQDSQLQKAREDIFMETLKDIVEYYNDSNGSHVLQGRFGCEIENNRSSGAFWKYYYDGKDYIEFNKEIPAWVPFDPAAQITKQKWEAEPVYVQRAKAYLEEECPATLRKYLKYSKNILDRQDPPSVVVTSHQAPGEKKKLKCLAYDFYPGKIDVHWTRAGEVQEPELRGDVLHNGNGTYQSWVVVAVPPQDTAPYSCHVQHSSLAQPLVVPWEAS
|
| UniProt AC: |
P25311
|
| UniProt ID: |
ZA2G_HUMAN
|
| Primary Name: |
Actin, cytoplasmic 1
|
| Gene Name: |
ACTB
|
| Association Source: |
28953655
|
| 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
|
| Primary Name: |
Elongation factor 1-alpha 1
|
| Gene Name: |
EEF1A1
|
| Association Source: |
28953655
|
| Protein Names: |
Elongation factor 1-alpha 1 (EF-1-alpha-1) (Elongation factor Tu) (EF-Tu) (Eukaryotic elongation factor 1 A-1) (eEF1A-1) (Leukocyte receptor cluster member 7)
|
| Protein Length: |
462
|
| Protein Sequence: |
MGKEKTHINIVVIGHVDSGKSTTTGHLIYKCGGIDKRTIEKFEKEAAEMGKGSFKYAWVLDKLKAERERGITIDISLWKFETSKYYVTIIDAPGHRDFIKNMITGTSQADCAVLIVAAGVGEFEAGISKNGQTREHALLAYTLGVKQLIVGVNKMDSTEPPYSQKRYEEIVKEVSTYIKKIGYNPDTVAFVPISGWNGDNMLEPSANMPWFKGWKVTRKDGNASGTTLLEALDCILPPTRPTDKPLRLPLQDVYKIGGIGTVPVGRVETGVLKPGMVVTFAPVNVTTEVKSVEMHHEALSEALPGDNVGFNVKNVSVKDVRRGNVAGDSKNDPPMEAAGFTAQVIILNHPGQISAGYAPVLDCHTAHIACKFAELKEKIDRRSGKKLEDGPKFLKSGDAAIVDMVPGKPMCVESFSDYPPLGRFAVRDMRQTVAVGVIKAVDKKAAGAGKVTKSAQKAQKAK
|
| UniProt AC: |
P68104
|
| UniProt ID: |
EF1A1_HUMAN
|
| Primary Name: |
Hemoglobin subunit beta
|
| Gene Name: |
HBB
|
| Association Source: |
28953655
|
| Protein Names: |
Hemoglobin subunit beta (Beta-globin) (Hemoglobin beta chain) [Cleaved into: LVV-hemorphin-7; Spinorphin]
|
| Protein Length: |
147
|
| Protein Sequence: |
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
|
| UniProt AC: |
P68871
|
| UniProt ID: |
HBB_HUMAN
|
| Primary Name: |
Hemoglobin subunit alpha
|
| Gene Name: |
HBA1
|
| Association Source: |
28953655
|
| Protein Names: |
Hemoglobin subunit alpha (Alpha-globin) (Hemoglobin alpha chain)
|
| Protein Length: |
142
|
| Protein Sequence: |
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
|
| UniProt AC: |
P69905
|
| UniProt ID: |
HBA_HUMAN
|
| Primary Name: |
Dermcidin
|
| Gene Name: |
DCD
|
| Association Source: |
28953655
|
| Protein Names: |
Dermcidin (EC 3.4.-.-) (Preproteolysin) [Cleaved into: Survival-promoting peptide; DCD-1]
|
| Protein Length: |
110
|
| Protein Sequence: |
MRFMTLLFLTALAGALVCAYDPEAASAPGSGNPCHEASAAQKENAGEDPGLARQAPKPRKQRSSLLEKGLDGAKKAVGGLGKLGKDAVEDLESVGKGAVHDVKDVLDSVL
|
| UniProt AC: |
P81605
|
| UniProt ID: |
DCD_HUMAN
|
| Primary Name: |
Extracellular glycoprotein lacritin
|
| Gene Name: |
LACRT
|
| Association Source: |
28953655
|
| Protein Names: |
Extracellular glycoprotein lacritin
|
| Protein Length: |
138
|
| Protein Sequence: |
MKFTTLLFLAAVAGALVYAEDASSDSTGADPAQEAGTSKPNEEISGPAEPASPPETTTTAQETSAAAVQGTAKVTSSRQELNPLKSIVEKSILLTEQALAKAGKGMHGGVPGGKQFIENGSEFAQKLLKKFSLLKPWA
|
| UniProt AC: |
Q9GZZ8
|
| UniProt ID: |
LACRT_HUMAN
|
|
