KEGG T01001: 5265

Homo sapiens (human): 5265

Entry

5265 CDS T01001

Gene name

SERPINA1, A1A, A1AT, AAT, PI, PI1, PRO2275, alpha1AT

Definition

serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1

Orthology

K03984

alpha-1-antitrypsin

Organism

hsa Homo sapiens (human)

Pathway

hsa04610

Complement and coagulation cascades

Disease

H01103

Alpha-1-antitrypsin (A1AT) deficiency

Class

Organismal Systems; Immune system; Complement and coagulation cascades [PATH:hsa04610]

SSDB

Motif

Pfam:

Serpin

Other DBs

NCBI-GI:

NCBI-GeneID:

OMIM:

HGNC:

HPRD:

Ensembl:

Vega:

UniProt:

Structure

PDB:

3NDD 3NE4 2QUG 1HP7 3DRM 1IZ2 1OPH 3CWL 3CWM 1EZX 1OO8 3NDF 1ATU 1PSI 1D5S 7API 8API 3DRU 2D26 1KCT 3T1P 1QMB 1QLP

Position

14q32.1

AA seq 418 aa
MPSSVSWGILLLAGLCCLVPVSLAEDPQGDAAQKTDTSHHDQDHPTFNKITPNLAEFAFS
LYRQLAHQSNSTNIFFSPVSIATAFAMLSLGTKADTHDEILEGLNFNLTEIPEAQIHEGF
QELLRTLNQPDSQLQLTTGNGLFLSEGLKLVDKFLEDVKKLYHSEAFTVNFGDTEEAKKQ
INDYVEKGTQGKIVDLVKELDRDTVFALVNYIFFKGKWERPFEVKDTEEEDFHVDQVTTV
KVPMMKRLGMFNIQHCKKLSSWVLLMKYLGNATAIFFLPDEGKLQHLENELTHDIITKFL
ENEDRRSASLHLPKLSITGTYDLKSVLGQLGITKVFSNGADLSGVTEEAPLKLSKAVHKA
VLTIDEKGTEAAGAMFLEAIPMSIPPEVKFNKPFVFLMIEQNTKSPLFMGKVVNPTQK

NT seq 1257 nt +upstreamnt +downstreamnt
atgccgtcttctgtctcgtggggcatcctcctgctggcaggcctgtgctgcctggtccct
gtctccctggctgaggatccccagggagatgctgcccagaagacagatacatcccaccat
gatcaggatcacccaaccttcaacaagatcacccccaacctggctgagttcgccttcagc
ctataccgccagctggcacaccagtccaacagcaccaatatcttcttctccccagtgagc
atcgctacagcctttgcaatgctctccctggggaccaaggctgacactcacgatgaaatc
ctggagggcctgaatttcaacctcacggagattccggaggctcagatccatgaaggcttc
caggaactcctccgtaccctcaaccagccagacagccagctccagctgaccaccggcaat
ggcctgttcctcagcgagggcctgaagctagtggataagtttttggaggatgttaaaaag
ttgtaccactcagaagccttcactgtcaacttcggggacaccgaagaggccaagaaacag
atcaacgattacgtggagaagggtactcaagggaaaattgtggatttggtcaaggagctt
gacagagacacagtttttgctctggtgaattacatcttctttaaaggcaaatgggagaga
ccctttgaagtcaaggacaccgaggaagaggacttccacgtggaccaggtgaccaccgtg
aaggtgcctatgatgaagcgtttaggcatgtttaacatccagcactgtaagaagctgtcc
agctgggtgctgctgatgaaatacctgggcaatgccaccgccatcttcttcctgcctgat
gaggggaaactacagcacctggaaaatgaactcacccacgatatcatcaccaagttcctg
gaaaatgaagacagaaggtctgccagcttacatttacccaaactgtccattactggaacc
tatgatctgaagagcgtcctgggtcaactgggcatcactaaggtcttcagcaatggggct
gacctctccggggtcacagaggaggcacccctgaagctctccaaggccgtgcataaggct
gtgctgaccatcgacgagaaagggactgaagctgctggggccatgtttttagaggccata
cccatgtctatcccccccgaggtcaagttcaacaaaccctttgtcttcttaatgattgaa
caaaataccaagtctcccctcttcatgggaaaagtggtgaatcccacccaaaaataa

All links

Ontology (1)   
   KEGG BRITE (1)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (4)   
   KEGG DISEASE (1)   
   OMIM (3)   
Genome (1)   
   KEGG GENOME (1)   
Gene (124)   
   KEGG ORTHOLOGY (1)   
   NCBI-Gene (1)   
   NCBI-GI (22)   
   UniGene (1)   
   HGNC (1)   
   HPRD (1)   
   ENSEMBL-HSA (1)   
   OC (1)   
   PROTHERM (94)   
   VEGA (1)   
Protein sequence (13)   
   UniProt (2)   
   RefSeq(pep) (11)   
DNA sequence (91)   
   RefSeq(nuc) (11)   
   GenBank (40)   
   EMBL (40)   
3D Structure (23)   
   PDB (23)   
Protein domain (1)   
   Pfam (1)   
All databases (259)   

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