ERLN2_HUMAN » Erlin-2

ERLN2_HUMAN » Erlin-2
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Topology in Endoplasmic reticulum membrane
Topologylumenal side
cytoplasmic side
ERLN2_HUMAN » Erlin-2 » Endoplasmic reticulum lipid raft-associated protein 2;Stomatin-prohibitin-flotillin-HflC/K domain-containing protein 2;SPFH domain-containing protein 2;
Hydrophobic Thickness 30.2 ± 3.4 Å
Tilt Angle 8 ± 8°
ΔGtransfer -11.5 kcal/mol
ΔGfold -8.3 kcal/mol
Links UniProtKB, Pfam, Interpro, iHOP, STRING, HGNC
Topology In
TM Segments 2-22 (2-24)
Pathways none
PDB none
OPM none
Complexes none
Interactions

CALX, Complex: CALX:ERLN2

CCD47, Complex: ERLN2:CCD47

CD3D, Complex: CD3D:ERLN2, PubMed

ERLN1, Complex: ERLN2:ERLN1, PubMed

MIRO1, Complex: ERLN2:MIRO1

NICA, Complex: NICA:ERLN2

SC61B, Complex: SC61B:ERLN2

SRPRB, Complex: SRPRB:ERLN2

TIM50, Complex: TIM50:ERLN2

Domains

AA: 24-218, PDBID: 4FVF, Subunit A, Seq Identity:20%, SPFH domain / Band 7 family

UniProt annotation for ERLN2_HUMAN » Erlin-2
FUNCTION: Component of the ERLIN1/ERLIN2 complex which mediates the endoplasmic reticulum-associated degradation (ERAD) of inositol 1,4,5-trisphosphate receptors (IP3Rs). Also involved in ITPR1 degradation by the ERAD pathway.

SUBUNIT: Interacts with activated ITPR1, independently of the degree of ITPR1 polyubiquitination (By similarity). Forms a heteromeric complex with ERLIN1. In complex with ERLIN1, interacts with RNF170.

TISSUE SPECIFICITY: Ubiquitous.

DISEASE: Spastic paraplegia 18, autosomal recessive (SPG18) OMIM: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG18 is a severe form with onset in early childhood. Most affected individuals have severe psychomotor retardation. Some may develop significant joint contractures. mutations affecting the gene represented in this entry.

UniProt features for ERLN2_HUMAN » Erlin-2
CHAIN 1 339 Erlin-2.
REGION 177 309 Interaction with ERLIN1.
Amino Acid Sequence for ERLN2_HUMAN » Erlin-2
MAQLGAVVAV ASSFFCASLF SAVHKIEEGH IGVYYRGGAL LTSTSGPGFH LMLPFITSYK SVQTTLQTDE VKNVPCGTSG GVMIYFDRIE VVNFLVPNAV YDIVKNYTAD YDKALIFNKI HHELNQFCSV HTLQEVYIEL FDQIDENLKL ALQQDLTSMA PGLVIQAVRV TKPNIPEAIR RNYELMESEK TKLLIAAQKQ KVVEKEAETE RKKALIEAEK VAQVAEITYG QKVMEKETEK KISEIEDAAF LAREKAKADA ECYTAMKIAE ANKLKLTPEY LQLMKYKAIA SNSKIYFGKD IPNMFMDSAG SVSKQFEGLA DKLSFGLEDE PLETATKEN