Gene id |
27102 |
Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed |
Gene Summary
|
Gene Symbol |
EIF2AK1 Gene UCSC Ensembl |
Aliases |
HCR, HRI, LEMSPAD |
Gene name |
eukaryotic translation initiation factor 2 alpha kinase 1 |
Alternate names |
eukaryotic translation initiation factor 2-alpha kinase 1, heme regulated initiation factor 2 alpha kinase, heme sensitive initiation factor 2a kinase, heme-controlled repressor, heme-regulated eukaryotic initiation factor eIF-2-alpha kinase, heme-regulated in, |
Gene location |
7p22.1 (6059228: 6022246) Exons: 15 NC_000007.14
|
Gene summary(Entrez) |
The protein encoded by this gene acts at the level of translation initiation to downregulate protein synthesis in response to stress. The encoded protein is a kinase that can be inactivated by hemin. Two transcript variants encoding different isoforms hav
|
OMIM |
613635 |
Protein Summary
|
Protein general information
| Q9BQI3
Name: Eukaryotic translation initiation factor 2 alpha kinase 1 (EC 2.7.11.1) (Heme controlled repressor) (HCR) (Heme regulated eukaryotic initiation factor eIF 2 alpha kinase) (Heme regulated inhibitor) (Hemin sensitive initiation factor 2 alpha kinase)
Length: 630 Mass: 71106
Tissue specificity: Expressed predominantly in erythroid cells. At much lower levels, expressed in hepatocytes (at protein level). {ECO
|
Sequence |
MQGGNSGVRKREEEGDGAGAVAAPPAIDFPAEGPDPEYDESDVPAEIQVLKEPLQQPTFPFAVANQLLLVSLLEH LSHVHEPNPLRSRQVFKLLCQTFIKMGLLSSFTCSDEFSSLRLHHNRAITHLMRSAKERVRQDPCEDISRIQKIR SREVALEAQTSRYLNEFEELAILGKGGYGRVYKVRNKLDGQYYAIKKILIKGATKTVCMKVLREVKVLAGLQHPN IVGYHTAWIEHVHVIQPRADRAAIELPSLEVLSDQEEDREQCGVKNDESSSSSIIFAEPTPEKEKRFGESDTENQ NNKSVKYTTNLVIRESGELESTLELQENGLAGLSASSIVEQQLPLRRNSHLEESFTSTEESSEENVNFLGQTEAQ YHLMLHIQMQLCELSLWDWIVERNKRGREYVDESACPYVMANVATKIFQELVEGVFYIHNMGIVHRDLKPRNIFL HGPDQQVKIGDFGLACTDILQKNTDWTNRNGKRTPTHTSRVGTCLYASPEQLEGSEYDAKSDMYSLGVVLLELFQ PFGTEMERAEVLTGLRTGQLPESLRKRCPVQAKYIQHLTRRNSSQRPSAIQLLQSELFQNSGNVNLTLQMKIIEQ EKEIAELKKQLNLLSQDKGVRDDGKDGGVG
|
Structural information |
|
Other Databases |
GeneCards: EIF2AK1 Malacards: EIF2AK1 |
|
GO accession | Term name | Evidence code | Go category |
---|
GO:0004694 |
eukaryotic translation in itiation factor 2alpha ki nase activity
|
IBA |
molecular function |
GO:0004672 |
protein kinase activity
|
IBA |
molecular function |
GO:0004694 |
eukaryotic translation in itiation factor 2alpha ki nase activity
|
IDA |
molecular function |
GO:0004694 |
eukaryotic translation in itiation factor 2alpha ki nase activity
|
IDA |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0004672 |
protein kinase activity
|
IEA |
molecular function |
GO:0005524 |
ATP binding
|
IEA |
molecular function |
GO:0006468 |
protein phosphorylation
|
IEA |
biological process |
GO:0016301 |
kinase activity
|
IEA |
molecular function |
GO:0017148 |
negative regulation of tr anslation
|
IEA |
biological process |
GO:0016740 |
transferase activity
|
IEA |
molecular function |
GO:0005524 |
ATP binding
|
IEA |
molecular function |
GO:0016310 |
phosphorylation
|
IEA |
biological process |
GO:0000166 |
nucleotide binding
|
IEA |
molecular function |
GO:0004674 |
protein serine/threonine kinase activity
|
IEA |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0006417 |
regulation of translation
|
IEA |
biological process |
GO:0006909 |
phagocytosis
|
IEA |
biological process |
GO:0008285 |
negative regulation of ce ll population proliferati on
|
IEA |
biological process |
GO:0010999 |
regulation of eIF2 alpha phosphorylation by heme
|
IEA |
biological process |
GO:0020037 |
heme binding
|
IEA |
molecular function |
GO:0042803 |
protein homodimerization activity
|
IEA |
molecular function |
GO:0046501 |
protoporphyrinogen IX met abolic process
|
IEA |
biological process |
GO:0046777 |
protein autophosphorylati on
|
IEA |
biological process |
GO:0046984 |
regulation of hemoglobin biosynthetic process
|
IEA |
biological process |
GO:0046986 |
negative regulation of he moglobin biosynthetic pro cess
|
IEA |
biological process |
GO:0002526 |
acute inflammatory respon se
|
IEA |
biological process |
GO:0004672 |
protein kinase activity
|
IEA |
molecular function |
GO:0005737 |
cytoplasm
|
IEA |
cellular component |
GO:0030225 |
macrophage differentiatio n
|
IEA |
biological process |
GO:0055072 |
iron ion homeostasis
|
IEA |
biological process |
GO:0004694 |
eukaryotic translation in itiation factor 2alpha ki nase activity
|
IEA |
molecular function |
GO:0010998 |
regulation of translation al initiation by eIF2 alp ha phosphorylation
|
IEA |
biological process |
GO:0010998 |
regulation of translation al initiation by eIF2 alp ha phosphorylation
|
IEA |
biological process |
GO:0010998 |
regulation of translation al initiation by eIF2 alp ha phosphorylation
|
IEA |
biological process |
GO:0010998 |
regulation of translation al initiation by eIF2 alp ha phosphorylation
|
IEA |
biological process |
GO:0010998 |
regulation of translation al initiation by eIF2 alp ha phosphorylation
|
IEA |
biological process |
GO:1990641 |
response to iron ion star vation
|
IDA |
biological process |
GO:0004694 |
eukaryotic translation in itiation factor 2alpha ki nase activity
|
IDA |
molecular function |
GO:0045993 |
negative regulation of tr anslational initiation by iron
|
NAS |
biological process |
GO:0046986 |
negative regulation of he moglobin biosynthetic pro cess
|
ISS |
biological process |
GO:0046777 |
protein autophosphorylati on
|
ISS |
biological process |
GO:0042803 |
protein homodimerization activity
|
ISS |
molecular function |
GO:0020037 |
heme binding
|
ISS |
molecular function |
|
|
|
|
Associated diseases |
References |
Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
Cryptorchidism | MIK: 28606200 |
Male factor infertility | MIK: 29961538 |
Spermatogenic defects | MIK: 31037746 |
Teratozoospermia | MIK: 17327269 |
|
|
PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
17327269 |
Teratozoos permia
|
|
|
19 (6 controls , 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
21674046 |
Aberrant C pGs in Low Motility Sperm
|
|
|
18
|
Male infertility |
GSE26881
|
Show abstract |
29961538 |
Male facto r infertil ity
|
|
|
318 (128 couple s presenting wi th OAT (MF) and 118 maternal a ge-matched cont rol (no MF) sub jects undergoin g infertility t reatment, 72 su rplus cryoprese rved blastocyst s)
|
Male infertility |
RNA-seq
|
Show abstract |
28606200 |
Cryptorchi dism
|
|
|
Monozgotic twin s (1 control, I cwith cryptorc hidism)
|
Male infertility |
MeDIP-Seq
|
Show abstract |
31037746 |
Spermatoge nic defect s
|
|
|
28 men with az oospermia
|
Male infertility |
Microarray
|
Show abstract |
|