Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q9Y5U9 (IR3IP_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified February 19, 2014. Version 103. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Immediate early response 3-interacting protein 1
Gene names
Name:IER3IP1
ORF Names:HSPC039
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length82 AA.
Sequence statusComplete.
Protein existenceEvidence 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

Microcephaly, epilepsy, and diabetes syndrome (MEDS) [MIM:614231]: An autosomal recessive disorder characterized by microcephaly, simplified gyral pattern, severe epilepsy, and infantile diabetes.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7

Sequence similarities

Belongs to the YOS1 family.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 8282Immediate early response 3-interacting protein 1
PRO_0000257961

Regions

Transmembrane2 – 2221Helical; Potential
Transmembrane62 – 8221Helical; Potential

Natural variations

Natural variant211V → G in MEDS. Ref.7
VAR_066569
Natural variant781L → P in MEDS. Ref.7
VAR_066570

Sequences

Sequence LengthMass (Da)Tools
Q9Y5U9 [UniParc].

Last modified November 1, 1999. Version 1.
Checksum: 2015B211F0AFF580

FASTA828,969
        10         20         30         40         50         60 
MAFTLYSLLQ AALLCVNAIA VLHEERFLKN IGWGTDQGIG GFGEEPGIKS QLMNLIRSVR 

        70         80 
TVMRVPLIIV NSIAIVLLLL FG 

« Hide

References

« Hide '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] [Europe PMC] [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. expand/collapse author list , Gu J., Chen S.-J., Chen Z.
Genome Res. 10:1546-1560(2000) [PubMed] [Europe PMC] [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. expand/collapse author list , 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] [Europe PMC] [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. expand/collapse author list , Tampe J., Heubner D., Wambutt R., Korn B., Klein M., Poustka A.
Genome Res. 11:422-435(2001) [PubMed] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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.
RefSeqNP_057181.1. NM_016097.4.
UniGeneHs.130917.

3D structure databases

ProteinModelPortalQ9Y5U9.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid119311. 7 interactions.
IntActQ9Y5U9. 5 interactions.
MINTMINT-5002077.
STRING9606.ENSP00000256433.

PTM databases

PhosphoSiteQ9Y5U9.

Polymorphism databases

DMDM74735295.

Proteomic databases

PaxDbQ9Y5U9.
PeptideAtlasQ9Y5U9.
PRIDEQ9Y5U9.

Protocols and materials databases

DNASU51124.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000256433; ENSP00000256433; ENSG00000134049.
GeneID51124.
KEGGhsa:51124.
UCSCuc002lcu.3. human.

Organism-specific databases

CTD51124.
GeneCardsGC18M044681.
HGNCHGNC:18550. IER3IP1.
HPAHPA010027.
MIM609382. gene.
614231. phenotype.
neXtProtNX_Q9Y5U9.
Orphanet306558. Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome.
PharmGKBPA134899219.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG329574.
HOGENOMHOG000192480.
HOVERGENHBG081806.
InParanoidQ9Y5U9.
OMAQTVMRMP.
PhylomeDBQ9Y5U9.
TreeFamTF300263.

Gene expression databases

BgeeQ9Y5U9.
CleanExHS_IER3IP1.
GenevestigatorQ9Y5U9.

Family and domain databases

InterProIPR013880. Yos1.
[Graphical view]
PANTHERPTHR15858. PTHR15858. 1 hit.
PfamPF08571. Yos1. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSIER3IP1. human.
GeneWikiIER3IP1.
GenomeRNAi51124.
NextBio53917.
PROQ9Y5U9.
SOURCESearch...

Entry information

Entry nameIR3IP_HUMAN
AccessionPrimary (citable) accession number: Q9Y5U9
Entry history
Integrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: November 1, 1999
Last modified: February 19, 2014
This is version 103 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 18

Human chromosome 18: entries, gene names and cross-references to MIM