KIRR3_HUMAN » Kin of IRRE-like protein 3

KIRR3_HUMAN » Kin of IRRE-like protein 3
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Topology in Plasma membrane
Topologyextracellular side
cytoplasmic side
KIRR3_HUMAN » Kin of IRRE-like protein 3 » Kin of irregular chiasm-like protein 3;Nephrin-like protein 2;
Hydrophobic Thickness 40.4 ± 1.6 Å
Tilt Angle 0 ± 0°
ΔGtransfer -51.8 kcal/mol
ΔGfold -22.8 kcal/mol
Links UniProtKB, Pfam, Interpro, iHOP, STRING, HGNC
Topology Out
TM Segments 532-559 (531-564)
Pathways

Cell-Cell communication (Reactome)

PDB 2cry (413-521)
OPM none
Complexes none
Interactions none
Domains

AA: 48-145, PDBID: 4OFD, Subunit B, Seq Identity:44%, Immunoglobulin I-set domain

AA: 149-246, PDBID: 1E4J, Subunit A, Seq Identity:21%, Immunoglobulin domain

AA: 335-416, PDBID: 2V5R, Subunit B, Seq Identity:34%, Immunoglobulin I-set domain

AA: 419-503, PDBID: 2CRY, Subunit A, Seq Identity:100%, Immunoglobulin domain

UniProt annotation for KIRR3_HUMAN » Kin of IRRE-like protein 3
FUNCTION: Could be involved in the hematopoietic supportive capacity of stroma cells.

SUBUNIT: Interacts with the C-terminus of NPHS2/podocin. Interacts with CASK.

TISSUE SPECIFICITY: Expressed in fetal and adult brain. Also expressed in kidney, specifically in podocytes of kidney glomeruli.

DISEASE: Note=A chromosomal aberration involving KIRREL3 and CDH15 is found in a patient with severe mental retardation and dysmorphic facial features. Translocation t(11;16)(q24.2;q24).

DISEASE: Mental retardation, autosomal dominant 4 (MRD4) OMIM: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. disease is caused by mutations affecting the gene represented in this entry.

UniProt features for KIRR3_HUMAN » Kin of IRRE-like protein 3
SIGNAL 1 21 Potential.
CHAIN 22 778 Kin of IRRE-like protein 3.
DOMAIN 48 142 Ig-like C2-type 1.
DOMAIN 147 243 Ig-like C2-type 2.
DOMAIN 249 330 Ig-like C2-type 3.
DOMAIN 335 415 Ig-like C2-type 4.
DOMAIN 419 515 Ig-like C2-type 5.
DISULFID 69 127 By similarity.
DISULFID 170 227 By similarity.
DISULFID 271 314 By similarity.
DISULFID 356 398 By similarity.
DISULFID 440 499 By similarity.
Amino Acid Sequence for KIRR3_HUMAN » Kin of IRRE-like protein 3
MKPFQLDLLF VCFFLFSQEL GLQKRGCCLV LGYMAKDKFR RMNEGQVYSF SQQPQDQVVV SGQPVTLLCA IPEYDGFVLW IKDGLALGVG RDLSSYPQYL VVGNHLSGEH HLKILRAELQ DDAVYECQAI QAAIRSRPAR LTVLVPPDDP VILGGPVISL RAGDPLNLTC HADNAKPAAS IIWLRKGEVI NGATYSKTLL RDGKRESIVS TLFISPGDVE NGQSIVCRAT NKAIPGGKET SVTIDIQHPP LVNLSVEPQP VLEDNVVTFH CSAKANPAVT QYRWAKRGQI IKEASGEVYR TTVDYTYFSE PVSCEVTNAL GSTNLSRTVD VYFGPRMTTE PQSLLVDLGS DAIFSCAWTG NPSLTIVWMK RGSGVVLSNE KTLTLKSVRQ EDAGKYVCRA VVPRVGAGER EVTLTVNGPP IISSTQTQHA LHGEKGQIKC FIRSTPPPDR IAWSWKENVL ESGTSGRYTV ETISTEEGVI STLTISNIVR ADFQTIYNCT AWNSFGSDTE IIRLKEQGSE MKSGAGLEAE SVPMAVIIGV AVGAGVAFLV LMATIVAFCC ARSQRNLKGV VSAKNDIRVE IVHKEPASGR EGEEHSTIKQ LMMDRGEFQQ DSVLKQLEVL KEEEKEFQNL KDPTNGYYSV NTFKEHHSTP TISLSSCQPD LRPAGKQRVP TGMSFTNIYS TLSGQGRLYD YGQRFVLGMG SSSIELCERE FQRGSLSDSS SFLDTQCDSS VSSSGKQDGY VQFDKASKAS ASSSHHSQSS SQNSDPSRPL QRRMQTHV