RBCC Red Blood Cell Collection

IR3IP_HUMAN

Source: BSc_CH
Marked as 'Integral membrane protein'
Confidence: medium (present in either hRBCD or BSc_CH or PM22954596) Search PubMed for
(RBC AND this entry)
Gene names: IER3IP1 , HSPC039
Protein names and data: IR3IP_HUMAN , Immediate early response 3-interacting protein 1 Lenght: 82 a.a.
Mass: 8969 Da
fasta formatted sequence
Function: May be implicated in the regulation of apoptosis. May be involved in protein transport between endoplasmic reticulum and Golgi apparatus (By similarity).
Disease: ( OMIM: 609382 614231 ) 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.
Cellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein.
Tissue specificity: Highest levels in heart, skeletal muscle, and kidney.

Genetic variants

21 - 21 V -> G (in MEDS). VAR_066569
78 - 78 L -> P (in MEDS). VAR_066570

Database cross-references

UniProt: Q9Y5U9
Ensembl: ENST00000256433
MIM: 609382
MIM: 614231
neXtProt: NX_Q9Y5U9
Antibodypedia: Q9Y5U9 (may not find the protein thus also not any antibody)
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