| Type | Description |
|---|---|
| Definition | spectrin alpha, erythrocytic 1 |
| Date | Results | Publications |
|---|---|---|
| 2021-04-13 10:11:00 | A Novel alpha-Spectrin Pathogenic Variant in Trans to alpha-Spectrin LELY Causing Neonatal Jaundice With Hemolytic Anemia From Hereditary Pyropoikilocytosis Coexisting With Gilbert Syndrome. | 32287101 |
| 2021-02-06 13:51:00 | Hereditary spherocytosis overlooked for 7 years in a pediatric patient with beta-thalassemia trait and novel compound heterozygous mutations of SPTA1 gene. | 33210974 |
| 2021-01-09 13:26:00 | A family affair-Severe fetal and neonatal hemolytic anemia due to novel alpha-spectrin mutations in two siblings. | 31854503 |
| 2020-08-01 10:47:00 | the molecular origin of chaperone activity resides in the surface exposed hydrophobic patches of the spectrin domains. | 31397976 |
| 2020-05-23 10:10:00 | Aberrant splicing contributes to severe alpha-spectrin-linked congenital hemolytic anemia. | 31038472 |
| Type | IDs |
|---|---|
| Synonymous | EL2, HPP, HS3, SPH3, SPTA |
| Gene |
UniProtKB-ID:
SPTA1_HUMAN
UniprotKB:
P02549
UniParc:
UPI0000458905,
UPI0000458906
EMBL:
M61852,
M61779,
M61821,
M61824,
M61797,
M29987,
M61778,
M61782,
M29984,
M61823,
M61791,
M61788,
M29991,
M61781,
M61826,
M61825,
M29993,
M61808,
M61794,
M61795,
M61783,
M61820,
M11049,
M61817,
AL353894,
M61780,
M61801,
M29983,
M29986,
M61822,
M61785,
M61803,
M61811,
M61798,
M61818,
M61787,
M61809,
M61819,
M61789,
M61777,
M61793,
M61776,
M61807,
M29988,
M61799,
M61815,
M61812,
M61800,
M13233,
M29992,
M61804,
M29994,
M29989,
M61805,
M61816,
M61802,
M61806,
M61796,
M61784,
M61792,
M29985,
M61814,
M61810,
M29990,
M61877
Ensembl:
ENSG00000163554
KO:
hsa:6708
|
| Nucleutide sequences |
EMBL-CDS:
AAA53103.1,
AAA60569.1,
AAA60575.1,
AAA60577.1,
AAA60994.1
Ensembl_TRS:
ENST00000643759
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000495214
RefSeq:
XP_011508218.1,
NP_003117.2,
XP_011508221.1,
XP_011508220.1,
XP_011508219.1
|
| Others |
UniRef100:
UniRef100_P02549
UniRef90:
UniRef90_P02549
UniRef50:
UniRef50_P02549
UniGene:
Hs.119825
CCDS:
CCDS41423.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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