NCKAP1L
Nck-associated protein 1-like
Also known as: HEM1, NCKPL_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P55160
- Gene
- NCKAP1L
- Ensembl
- ENSG00000123338
- Chromosome
- 12
- Canonical length
- 1127 aa
- Protein class
- Disease related genes, Human disease related genes, Plasma proteins, Predicted membrane proteins
- Subcellular location
- Plasma membrane,Cytosol
OverviewNCBI Gene
This gene encodes a member of the HEM family of tissue-specific transmembrane proteins which are highly conserved from invertebrates through mammals. This gene is only expressed in hematopoietic cells. The encoded protein is a part of the Scar/WAVE complex which plays an important role in regulating cell shape in both metazoans and plants. Alternatively spliced transcript variants encoding different isoforms have been found.[provided by RefSeq, May 2010]
Canonical amino-acid sequenceUniProt
1127 residues, UniProt reviewed canonical sequence.
>P55160|NCKAP1L
1 MSLTSAYQHK LAEKLTILND RGQGVLIRMY NIKKTCSDPK SKPPFLLEKS MEPSLKYINK
61 KFPNIDVRNS TQHLGPVHRE KAEIIRFLTN YYQSFVDVME FRDHVYELLN TIDACQCHFD
121 INLNFDFTRS YLDLIVTYTS VILLLSRIED RRILIGMYNC AHEMLHGHGD PSFARLGQMV
181 LEYDHPLKKL TEEFGPHTKA VSGALLSLHF LFVRRNQGAE QWRSAQLLSL ISNPPAMINP
241 ANSDTMACEY LSVEVMERWI IIGFLLCHGC LNSNSQCQKL WKLCLQGSLY ITLIREDVLQ
301 VHKVTEDLFS SLKGYGKRVA DIKESKEHVI ANSGQFHCQR RQFLRMAVKE LETVLADEPG
361 LLGPKALFAF MALSFIRDEV TWLVRHTENV TKTKTPEDYA DSSIAELLFL LEGIRSLVRR
421 HIKVIQQYHL QYLARFDALV LSDIIQNLSV CPEEESIIMS SFVSILSSLN LKQVDNGEKF
481 EFSGLRLDWF RLQAYTSVAK APLHLHENPD LAKVMNLIVF HSRMLDSVEK LLVETSDLST
541 FCFHLRIFEK MFAMTLEESA MLRYAIAFPL ICAHFVHCTH EMCPEEYPHL KNHGLHHCNS
601 FLEELAKQTS NCVLEICAEQ RNLSEQLLPK HCATTISKAK NKKTRKQRQT PRKGEPERDK
661 PGAESHRKNR SIVTNMDKLH LNLTELALTM NHVYSFSVFE HTIFPSEYLS SHLEARLNRA
721 IVWLAGYNAT TQEIVRPSEL LAGVKAYIGF IQSLAQFLGA DASRVIRNAL LQQTQPLDSC
781 GEQTITTLYT NWYLESLLRQ ASSGTIILSP AMQAFVSLPR EGEQNFSAEE FSDISEMRAL
841 AELLGPYGMK FLSENLMWHV TSQIVELKKL VVENMDILVQ IRSNFSKPDL MASLLPQLTG
901 AENVLKRMTI IGVILSFRAM AQEGLREVFS SHCPFLMGPI ECLKEFVTPD TDIKVTLSIF
961 ELASAAGVGC DIDPALVAAI ANLKADTSSP EEEYKVACLL LIFLAVSLPL LATDPSSFYS
1021 IEKDGYNNNI HCLTKAIIQV SAALFTLYNK NIETHLKEFL VVASVSLLQL GQETDKLKTR
1081 NRESISLLMR LVVEESSFLT LDMLESCFPY VLLRNAYREV SRAFHLNLocalizationUniProt · AlphaFold · HPA
Whether an antibody against NCKAP1L can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 1
- Mean surface accessibility (rSASA)
- 0.23
- Highest tissue expression
- 43 nTPM
Expression across tissuesHPA
Tissue
- spleen: 43 nTPM
- tonsil: 41 nTPM
- lymph node: 40 nTPM
- thymus: 35 nTPM
- appendix: 33 nTPM
- bone marrow: 27 nTPM
Single-cell type
- neutrophil progenitors: 263 nCPM
- microglia: 263 nCPM
- kupffer cells: 260 nCPM
- neutrophils: 228 nCPM
- monocytes: 227 nCPM
- hofbauer cells: 200 nCPM
Immune cell
- non-classical monocyte: 122 nTPM
- intermediate monocyte: 104 nTPM
- myeloid DC: 72 nTPM
- classical monocyte: 69 nTPM
- total PBMC: 65 nTPM
- eosinophil: 55 nTPM
Brain region
- white matter: 16 nTPM
- thalamus: 13 nTPM
- medulla oblongata: 13 nTPM
- spinal cord: 9.7 nTPM
- pons: 9.6 nTPM
- midbrain: 7.7 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about NCKAP1L.
Disease | AllUniProt
Conditions NCKAP1L is implicated in, by any mechanism.
- Immunodeficiency 72 with autoinflammation and lymphoproliferation (IMD72) MIM:618982
Disease | GeneticClinVar
12 pathogenic / likely-pathogenic of 576 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Immunodeficiency 72 with autoinflammation
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.33
- gnomAD pLI
- 0.85
- gnomAD missense Z
- 2.48
- DepMap mean gene effect
- -0.16
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- actin polymerization-dependent cell motility
- B cell homeostasis
- B cell receptor signaling pathway
- cell migration
- cell morphogenesis
- cell projection assembly
- chemotaxis
- cortical actin cytoskeleton organization
- erythrocyte development
- erythrocyte homeostasis
- intracellular signal transduction
- maintenance of cell polarity
- myeloid cell homeostasis
- negative regulation of apoptotic process
- negative regulation of cytotoxic T cell degranulation
- negative regulation of interleukin-17 production
- negative regulation of interleukin-6 production
- neuron projection morphogenesis
- positive regulation of actin filament polymerization
- positive regulation of B cell differentiation
- positive regulation of B cell proliferation
- positive regulation of CD4-positive, alpha-beta T cell differentiation
- positive regulation of CD8-positive, alpha-beta T cell differentiation
- positive regulation of cell adhesion mediated by integrin
- positive regulation of erythrocyte differentiation
- positive regulation of gamma-delta T cell differentiation
- positive regulation of leukocyte migration
- positive regulation of lymphocyte differentiation
- positive regulation of neutrophil chemotaxis
- positive regulation of neutrophil migration
- positive regulation of phagocytosis, engulfment
- positive regulation of T cell proliferation
- positive regulation of TORC2 signaling
- protein-containing complex assembly
- response to xenobiotic stimulus
- T cell homeostasis
Molecular functions
- GTPase activator activity
- protein kinase activator activity
- protein-containing complex binding
- TORC2 complex binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of NCKAP1L in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads NCKAP1L as an antibody target. Whether an autoantibody or antibody against NCKAP1L could matter depends on whether native NCKAP1L is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
NCKAP1L is annotated at the cell surface, where native NCKAP1L is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label NCKAP1L as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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