NCKAP1L
entrez
3071
canonical
uniprot
P55160
canonical
ensembl
ENSG00000123338
resolver
ensp
ENSP00000293373
resolver
ensp
ENSP00000445596
resolver
genesymbol
NCKAP1L
resolver
genesymbol_syn
HEM1
resolver
hgnc
HGNC:4862
resolver
uniprot
B4DUT5
resolver
uniprot
Q52LW0
resolver
uniprot_entry
NCKPL_HUMAN
resolver
uniprot_sec
B4DUT5
resolver
uniprot_sec
Q52LW0
resolver
amino_acid_sequence
MSLTSAYQHKLAEKLTILNDRGQGVLIRMYNIKKTCSDPKSKPPFLLEKSMEPSLKYINKKFPNIDVRNSTQHLGPVHREKAEIIRFLTNYYQSFVDVMEFRDHVYELLNTIDACQCHFDINLNFDFTRSYLDLIVTYTSVILLLSRIEDRRILIGMYNCAHEMLHGHGDPSFARLGQMVLEYDHPLKKLTEEFGPHTKAVSGALLSLHFLFVRRNQGAEQWRSAQLLSLISNPPAMINPANSDTMACEYLSVEVMERWIIIGFLLCHGCLNSNSQCQKLWKLCLQGSLYITLIREDVLQVHKVTEDLFSSLKGYGKRVADIKESKEHVIANSGQFHCQRRQFLRMAVKELETVLADEPGLLGPKALFAFMALSFIRDEVTWLVRHTENVTKTKTPEDYADSSIAELLFLLEGIRSLVRRHIKVIQQYHLQYLARFDALVLSDIIQNLSVCPEEESIIMSSFVSILSSLNLKQVDNGEKFEFSGLRLDWFRLQAYTSVAKAPLHLHENPDLAKVMNLIVFHSRMLDSVEKLLVETSDLSTFCFHLRIFEKMFAMTLEESAMLRYAIAFPLICAHFVHCTHEMCPEEYPHLKNHGLHHCNSFLEELAKQTSNCVLEICAEQRNLSEQLLPKHCATTISKAKNKKTRKQRQTPRKGEPERDKPGAESHRKNRSIVTNMDKLHLNLTELALTMNHVYSFSVFEHTIFPSEYLSSHLEARLNRAIVWLAGYNATTQEIVRPSELLAGVKAYIGFIQSLAQFLGADASRVIRNALLQQTQPLDSCGEQTITTLYTNWYLESLLRQASSGTIILSPAMQAFVSLPREGEQNFSAEEFSDISEMRALAELLGPYGMKFLSENLMWHVTSQIVELKKLVVENMDILVQIRSNFSKPDLMASLLPQLTGAENVLKRMTIIGVILSFRAMAQEGLREVFSSHCPFLMGPIECLKEFVTPDTDIKVTLSIFELASAAGVGCDIDPALVAAIANLKADTSSPEEEYKVACLLLIFLAVSLPLLATDPSSFYSIEKDGYNNNIHCLTKAIIQVSAALFTLYNKNIETHLKEFLVVASVSLLQLGQETDKLKTRNRESISLLMRLVVEESSFLTLDMLESCFPYVLLRNAYREVSRAFHLN
uniprot
proteins
disease_involvement
DISEASE: Immunodeficiency 72 with autoinflammation and lymphoproliferation (IMD72) [MIM:618982]: An autosomal recessive immunologic disorder characterized by onset in the first year of life, recurrent bacterial and viral skin infections, severe respiratory tract infections leading to pneumonia and bronchiectasis, and poor specific antibody responses. Patients also exhibit atopic and inflammatory disease alongside chronic hepatosplenomegaly, lymphoproliferation and lymphadenopathy, and autoimmune manifestations. {ECO:0000269|PubMed:32647003}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Essential hematopoietic-specific regulator of the actin cytoskeleton (Probable). Controls lymphocyte development, activation, proliferation and homeostasis, erythrocyte membrane stability, as well as phagocytosis and migration by neutrophils and macrophages (PubMed:16417406, PubMed:17696648). Component of the WAVE2 complex which signals downstream of RAC to stimulate F-actin polymerization. Required for stabilization and/or translation of the WAVE2 complex proteins in hematopoietic cells (By similarity). Within the WAVE2 complex, enables the cortical actin network to restrain excessive degranulation and granule release by T-cells (PubMed:32647003). Required for efficient T-lymphocyte and neutrophil migration (PubMed:32647003). Exhibits complex cycles of activation and inhibition to generate waves of propagating the assembly with actin (PubMed:16417406). Also involved in mechanisms WAVE-independent to regulate myosin and actin polymerization during neutrophil chemotaxis (PubMed:17696648). In T-cells, required for proper mechanistic target of rapamycin complex 2 (mTORC2)-dependent AKT phosphorylation, cell proliferation and cytokine secretion, including that of IL2 and TNF (PubMed:32647003). {ECO:0000250|UniProtKB:Q8K1X4, ECO:0000269|PubMed:16417406, ECO:0000269|PubMed:17696648, ECO:0000269|PubMed:32647003, ECO:0000303|PubMed:20969869}.
uniprot
proteins
mass_dalton
128153
uniprot
proteins
protein_family
HEM-1/HEM-2 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16417406
uniprot
proteins
pubmed
16541075
uniprot
proteins
pubmed
17696648
uniprot
proteins
pubmed
1932118
uniprot
proteins
pubmed
20969869
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
32647003
uniprot
proteins
pubmed
7643388
uniprot
proteins
sequence_length
1127
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:16417406}; Single-pass membrane protein {ECO:0000305}; Cytoplasmic side {ECO:0000305}. Cytoplasm {ECO:0000269|PubMed:16417406}. Note=Localizes to the leading edge of polarized neutrophils. {ECO:0000269|PubMed:16417406, ECO:0000269|PubMed:17696648}.
uniprot
proteins
transmembrane_region
TRANSMEM 996..1016; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins