Q9Y5U9 (IR3IP_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Immediate early response 3-interacting protein 1

Gene names

Name:	IER3IP1
ORF Names:	HSPC039

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	82 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	May be implicated in the regulation of apoptosis. May be involved in protein transport between endoplasmic reticulum and Golgi apparatus By similarity. Ref.7
Subcellular location	Endoplasmic reticulum membrane; Multi-pass membrane protein Ref.1.
Tissue specificity	Highest levels in heart, skeletal muscle, and kidney. Ref.1
Involvement in disease	Defects in IER3IP1 are the cause of microcephaly epilepsy and diabetes syndrome (MEDS) [MIM:614231]. An autosomal recessive disorder characterized by microcephaly, simplified gyral pattern, severe epilepsy, and infantile diabetes. Ref.7
Sequence similarities	Belongs to the YOS1 family.

Ontologies

Keywords
Cellular component	Endoplasmic reticulum Membrane
Disease	Diabetes mellitus Disease mutation Epilepsy
Domain	Transmembrane Transmembrane helix
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	regulation of apoptotic process Inferred from mutant phenotype Ref.7. Source: UniProtKB
Cellular component	Golgi apparatus Inferred from direct assay. Source: HPA endoplasmic reticulum membrane Inferred from electronic annotation. Source: UniProtKB-SubCell integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 82	82	Immediate early response 3-interacting protein 1		PRO_0000257961
Regions
	Transmembrane	2 – 22	21	Helical; Potential
	Transmembrane	62 – 82	21	Helical; Potential
Natural variations
	Natural variant	21	1	V → G in MEDS. Ref.7		VAR_066569
	Natural variant	78	1	L → P in MEDS. Ref.7		VAR_066570

Sequences

	Sequence		Length	Mass (Da)
	Q9Y5U9 [UniParc]. Last modified November 1, 1999. Version 1. Checksum: 2015B211F0AFF580	FASTA	82	8,969
	10 20 30 40 50 60 MAFTLYSLLQ AALLCVNAIA VLHEERFLKN IGWGTDQGIG GFGEEPGIKS QLMNLIRSVR 70 80 TVMRVPLIIV NSIAIVLLLL FG

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Cloning and characterization of a novel endoplasmic reticulum localized G-patch domain protein, IER3IP1." Yiu W.H., Poon J.W.M., Tsui S.K.W., Fung K.P., Waye M.M.Y. Gene 337:37-44(2004) [PubMed: 15276200] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], SUBCELLULAR LOCATION, TISSUE SPECIFICITY. Tissue: Liver.
[2]	"Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells." Zhang Q.-H., Ye M., Wu X.-Y., Ren S.-X., Zhao M., Zhao C.-J., Fu G., Shen Y., Fan H.-Y., Lu G., Zhong M., Xu X.-R., Han Z.-G., Zhang J.-W., Tao J., Huang Q.-H., Zhou J., Hu G.-X. , Gu J., Chen S.-J., Chen Z. Genome Res. 10:1546-1560(2000) [PubMed: 11042152] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Umbilical cord blood.
[3]	"Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning." Hu R.-M., Han Z.-G., Song H.-D., Peng Y.-D., Huang Q.-H., Ren S.-X., Gu Y.-J., Huang C.-H., Li Y.-B., Jiang C.-L., Fu G., Zhang Q.-H., Gu B.-W., Dai M., Mao Y.-F., Gao G.-F., Rong R., Ye M. , Zhou J., Xu S.-H., Gu J., Shi J.-X., Jin W.-R., Zhang C.-K., Wu T.-M., Huang G.-Y., Chen Z., Chen M.-D., Chen J.-L. Proc. Natl. Acad. Sci. U.S.A. 97:9543-9548(2000) [PubMed: 10931946] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Adrenal gland.
[4]	"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs." Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. , Tampe J., Heubner D., Wambutt R., Korn B., Klein M., Poustka A. Genome Res. 11:422-435(2001) [PubMed: 11230166] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Brain.
[5]	"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)." Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B. Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[6]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Bone marrow and Brain.
[7]	"Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors." Poulton C.J., Schot R., Kia S.K., Jones M., Verheijen F.W., Venselaar H., de Wit M.C., de Graaff E., Bertoli-Avella A.M., Mancini G.M. Am. J. Hum. Genet. 89:265-276(2011) [PubMed: 21835305] [Abstract] Cited for: POSSIBLE FUNCTION, VARIANTS MEDS GLY-21 AND PRO-78.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF371963 mRNA. Translation: AAK53816.1. AF125100 mRNA. Translation: AAD39917.1. AF164798 mRNA. Translation: AAF80762.1. AL136667 mRNA. Translation: CAB66602.1. CR533488 mRNA. Translation: CAG38519.1. BC010888 mRNA. Translation: AAH10888.1. BC017391 mRNA. Translation: AAH17391.1.
IPI	IPI00007166.
RefSeq	NP_057181.1. NM_016097.3.
UniGene	Hs.130917.
3D structure databases
ProteinModelPortal	Q9Y5U9.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9Y5U9. 1 interaction.
STRING	Q9Y5U9.
PTM databases
PhosphoSite	Q9Y5U9.
Polymorphism databases
DMDM	74735295.
Proteomic databases
PeptideAtlas	Q9Y5U9.
PRIDE	Q9Y5U9.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000256433; ENSP00000256433; ENSG00000134049.
GeneID	51124.
KEGG	hsa:51124.
UCSC	uc002lcu.1. human.
Organism-specific databases
CTD	51124.
GeneCards	GC18M044681.
H-InvDB	HIX0202660.
HGNC	HGNC:18550. IER3IP1.
HPA	HPA010027.
MIM	609382. gene. 614231. phenotype.
neXtProt	NX_Q9Y5U9.
PharmGKB	PA134899219.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG21201.
GeneTree	ENSGT00510000047648.
HOGENOM	HBG607174.
HOVERGEN	HBG081806.
InParanoid	Q9Y5U9.
OMA	QTVMRMP.
OrthoDB	EOG4KKZ4Q.
PhylomeDB	Q9Y5U9.
Gene expression databases
ArrayExpress	Q9Y5U9.
Bgee	Q9Y5U9.
CleanEx	HS_IER3IP1.
Genevestigator	Q9Y5U9.
GermOnline	ENSG00000134049. Homo sapiens.
Family and domain databases
InterPro	IPR013880. Yos1. [Graphical view]
PANTHER	PTHR15858. Yos1. 1 hit.
Pfam	PF08571. Yos1. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	53917.
SOURCE	Search...

Entry information

Entry name

IR3IP_HUMAN

Accession

Primary (citable) accession number: Q9Y5U9

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 31, 2006
Last sequence update:	November 1, 1999
Last modified:	January 25, 2012
This is version 82 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.