• Gene id: 27102

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:
  • Protein Domains: (167..58-)
    (/note="Protein-kinase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00159"-)
  • Interpro: IPR011009  IPR000719  IPR017441  IPR008271  
  • Prosite: PS00107 PS50011 PS00108
  • STRING: ENSP00000199389
• Other Databases: GeneCards:  EIF2AK1  Malacards:  EIF2AK1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004694	eukaryotic translation initiation factor 2alpha kinase activity	IBA	molecular function
GO:0004672	protein kinase activity	IBA	molecular function
GO:0004694	eukaryotic translation initiation factor 2alpha kinase activity	IDA	molecular function
GO:0004694	eukaryotic translation initiation factor 2alpha kinase 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 translation	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 cell population proliferation	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 metabolic process	IEA	biological process
GO:0046777	protein autophosphorylation	IEA	biological process
GO:0046984	regulation of hemoglobin biosynthetic process	IEA	biological process
GO:0046986	negative regulation of hemoglobin biosynthetic process	IEA	biological process
GO:0002526	acute inflammatory response	IEA	biological process
GO:0004672	protein kinase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0030225	macrophage differentiation	IEA	biological process
GO:0055072	iron ion homeostasis	IEA	biological process
GO:0004694	eukaryotic translation initiation factor 2alpha kinase activity	IEA	molecular function
GO:0010998	regulation of translational initiation by eIF2 alpha phosphorylation	IEA	biological process
GO:0010998	regulation of translational initiation by eIF2 alpha phosphorylation	IEA	biological process
GO:0010998	regulation of translational initiation by eIF2 alpha phosphorylation	IEA	biological process
GO:0010998	regulation of translational initiation by eIF2 alpha phosphorylation	IEA	biological process
GO:0010998	regulation of translational initiation by eIF2 alpha phosphorylation	IEA	biological process
GO:1990641	response to iron ion starvation	IDA	biological process
GO:0004694	eukaryotic translation initiation factor 2alpha kinase activity	IDA	molecular function
GO:0045993	negative regulation of translational initiation by iron	NAS	biological process
GO:0046986	negative regulation of hemoglobin biosynthetic process	ISS	biological process
GO:0046777	protein autophosphorylation	ISS	biological process
GO:0042803	protein homodimerization activity	ISS	molecular function
GO:0020037	heme binding	ISS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05168	Herpes simplex virus 1 infection
hsa04141	Protein processing in endoplasmic reticulum
hsa05160	Hepatitis C
hsa05162	Measles

Diseases

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

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray