JPH3_HUMAN » Junctophilin-3

JPH3_HUMAN » Junctophilin-3
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Topology in Endoplasmic reticulum membrane
Topologylumenal side
cytoplasmic side
JPH3_HUMAN » Junctophilin-3 » JP-3; Junctophilin type 3;Trinucleotide repeat-containing gene 22 protein;
Hydrophobic Thickness 33.6 ± 1.8 Å
Tilt Angle 0 ± 0°
ΔGtransfer -38.3 kcal/mol
ΔGfold -16.3 kcal/mol
Links UniProtKB, Pfam, Interpro, iHOP, STRING, HGNC
Topology In
TM Segments 725-747 (724-747)
Pathways none
PDB none
OPM none
Complexes none
Interactions none
Domains

AA: 15-37, PDBID: 1H3I, Subunit B, Seq Identity:30%, MORN repeat

AA: 39-60, PDBID: 1H3I, Subunit B, Seq Identity:29%, MORN repeat

AA: 61-80, PDBID: 1H3I, Subunit B, Seq Identity:25%, MORN repeat

AA: 83-104, PDBID: 1H3I, Subunit B, Seq Identity:22%, MORN repeat

AA: 107-129, PDBID: 1H3I, Subunit B, Seq Identity:41%, MORN repeat

AA: 130-152, PDBID: 1H3I, Subunit B, Seq Identity:25%, MORN repeat

AA: 288-310, PDBID: 1H3I, Subunit B, Seq Identity:32%, MORN repeat

AA: 311-333, PDBID: 1H3I, Subunit B, Seq Identity:40%, MORN repeat

UniProt annotation for JPH3_HUMAN » Junctophilin-3
FUNCTION: Junctophilins contribute to the formation of junctional membrane complexes (JMCs) which link the plasma membrane with the endoplasmic or sarcoplasmic reticulum in excitable cells. Provides a structural foundation for functional cross-talk between the cell surface and intracellular calcium release channels. JPH3 is brain- specific and appears to have an active role in certain neurons involved in motor coordination and memory.

TISSUE SPECIFICITY: Specifically expressed in brain.

DOMAIN: The MORN (membrane occupation and recognition nexus) repeats contribute to the plasma membrane binding, possibly by interacting with phospholipids.

DISEASE: Huntington disease-like 2 (HDL2) OMIM: Huntington disease (HD) is a neurodegenerative disorder resulting primarily from the loss of medium spiny projection neurons in the striatum, especially in the caudate nucleus, and, to a lesser extent, atrophy of mesencephalic and cortical structures. The typical clinical picture of HD combines familial adult onset chorea and subcortical dementia that usually begin during the fourth decade of life. mutations affecting the gene represented in this entry.

UniProt features for JPH3_HUMAN » Junctophilin-3
CHAIN 1 748 Junctophilin-3.
REPEAT 15 37 MORN 1.
REPEAT 39 60 MORN 2.
REPEAT 61 82 MORN 3.
REPEAT 83 105 MORN 4.
REPEAT 107 129 MORN 5.
REPEAT 130 152 MORN 6.
REPEAT 288 310 MORN 7.
REPEAT 311 333 MORN 8.
Amino Acid Sequence for JPH3_HUMAN » Junctophilin-3
MSSGGRFNFD DGGSYCGGWE DGKAHGHGVC TGPKGQGEYT GSWSHGFEVL GVYTWPSGNT YQGTWAQGKR HGIGLESKGK WVYKGEWTHG FKGRYGVREC AGNGAKYEGT WSNGLQDGYG TETYSDGGTY QGQWVGGMRQ GYGVRQSVPY GMAAVIRSPL RTSINSLRSE HTNGTALHPD ASPAVAGSPA VSRGGFVLVA HSDSEILKSK KKGLFRRSLL SGLKLRKSES KSSLASQRSK QSSFRSEAGM STVSSTASDI HSTISLGEAE AELAVIEDDI DATTTETYVG EWKNDKRSGF GVSQRSDGLK YEGEWASNRR HGYGCMTFPD GTKEEGKYKQ NILVGGKRKN LIPLRASKIR EKVDRAVEAA ERAATIAKQK AEIAASRTSH SRAKAEAALT AAQKAQEEAR IARITAKEFS PSFQHRENGL EYQRPKRQTS CDDIEVLSTG TPLQQESPEL YRKGTTPSDL TPDDSPLQSF PTSPAATPPP APAARNKVAH FSRQVSVDEE RGGDIQMLLE GRAGDCARSS WGEEQAGGSR GVRSGALRGG LLVDDFRTRG SGRKQPGNPK PRERRTESPP VFTWTSHHRA SNHSPGGSRL LELQEEKLSN YRMEMKPLLR METHPQKRRY SKGGACRGLG DDHRPEDRGF GVQRLRSKAQ NKENFRPASS AEPAVQKLAS LRLGGAEPRL LRWDLTFSPP QKSLPVALES DEENGDELKS STGSAPILVV MVILLNIGVA ILFINFFI