SYNE4_HUMAN » Nesprin-4

SYNE4_HUMAN » Nesprin-4
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Topology in Nuclear outer membrane
Topologyintermembrane space
cytoplasmic side
SYNE4_HUMAN » Nesprin-4 » Nuclear envelope spectrin repeat protein 4;
Hydrophobic Thickness 34.8 ± 1.0 Å
Tilt Angle 0 ± 0°
ΔGtransfer -31.8 kcal/mol
ΔGfold -24.3 kcal/mol
Links UniProtKB, Pfam, Interpro, iHOP, STRING, HGNC
Topology In
TM Segments 352-374 (351-374)
Pathways none
PDB none
OPM none
Complexes none
Interactions

BRID5, Complex: BRID5:SYNE4

CGAT2, Complex: SYNE4:CGAT2

CJ035, Complex: SYNE4:CJ035

CK075, Complex: SYNE4:SMCO4

CLC7A, Complex: SYNE4:CLC7A

ECE2, Complex: SYNE4:ECE2

FATE1, Complex: SYNE4:FATE1

ITM2B, Complex: ITM2B:SYNE4

KLRG1, Complex: SYNE4:KLRG1

KTN1, Complex: KTN1:SYNE4

SARCO, Complex: SYNE4:SARCO

TMPS4, Complex: SYNE4:TMPS4

TTMP, Complex: SYNE4:TTMP

VTI1B, Complex: SYNE4:VTI1B

Domains

AA: 349-404, PDBID: 4DXS, Subunit B, Seq Identity:27%, Nuclear envelope localisation domain

UniProt annotation for SYNE4_HUMAN » Nesprin-4
FUNCTION: As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex, involved in the connection between the nuclear lamina and the cytoskeleton. The nucleocytoplasmic interactions established by the LINC complex play an important role in the transmission of mechanical forces across the nuclear envelope and in nuclear movement and positioning (By similarity). Behaves as a kinesin cargo, providing a functional binding site for kinesin-1 at the nuclear envelope. Hence may contribute to the establishment of secretory epithelial morphology by promoting kinesin-dependent apical migration of the centrosome and Golgi apparatus and basal localization of the nucleus (By similarity).

SUBUNIT: Core component of the LINC complex which is composed of inner nuclear membrane SUN domain-containing proteins coupled to outer nuclear membrane KASH domain-containing nesprins. SUN domain-containing proteins interact with A-type lamins of the nuclear lamina, while at the other end of the complex, nesprins interact with unique cytoskeletal components (By similarity). Interacts with kinesins KIF5B and KLC1 (By similarity).

DOMAIN: The KASH domain, which contains a transmembrane domain, mediates the nuclear envelope targeting and is involved in the binding to SUN1 and SUN2 through recognition of their SUN domains.

DISEASE: Deafness, autosomal recessive, 76 (DFNB76) OMIM: A form of non-syndromic sensorineural deafness, a disorder resulting from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNB76 affected individuals have onset of progressive high frequency hearing impairment between birth and 6 years of age. The hearing loss is severe at high frequencies by adulthood. caused by mutations affecting the gene represented in this entry.

UniProt features for SYNE4_HUMAN » Nesprin-4
CHAIN 1 404 Nesprin-4.
DOMAIN 347 404 KASH.
Amino Acid Sequence for SYNE4_HUMAN » Nesprin-4
MALSLPLGPR LGSEPLNHPP GAPREADIVG CTVCPASGEE STSPEQAQTL GQDSLGPPEH FQGGPRGNEP AAHPPRWSTP SSYEDPAGGK HCEHPISGLE VLEAEQNSLH LCLLGLGRRL QDLEQGLGHW ALAQSGMVQL QALQVDLRGA AERVEALLAF GEGLAQRSEP RAWAALEQIL RALGAYRDSI FRRLWQLQAQ LVSYSLVFEE ANTLDQDLEV EGDSDWPGPG GVWGPWAPSS LPTSTELEWD PAGDIGGLGP LGQKTARTLG VPCELCGQRG PQGRGQGLEE ADTSHSRQDM LESGLGHQKR LARHQRHSLL RKPQDKKRQA SPHLQDVRLE GNPGAPDPAS RQPLTFLLIL FLLFLLLVGA MFLLPASGGP CCSHARIPRT PYLVLSYVNG LPPV