Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	3071
Gene name	NCK associated protein 1 like
Gene symbol	NCKAP1L
Synonyms (NCBI Gene)	HEM1IMD72
Chromosome	12
Chromosome location	12q13.13-q13.2
Summary	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 comple

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miRTarBase ID	miRNA	Experiments	Reference
MIRT724084	hsa-miR-6779-3p	HITS-CLIP	19536157
MIRT724083	hsa-miR-4690-3p	HITS-CLIP	19536157
MIRT724082	hsa-miR-5685	HITS-CLIP	19536157
MIRT724081	hsa-miR-140-3p	HITS-CLIP	19536157
MIRT724080	hsa-miR-4308	HITS-CLIP	19536157
MIRT724079	hsa-miR-378j	HITS-CLIP	19536157
MIRT724078	hsa-miR-6839-5p	HITS-CLIP	19536157
MIRT724077	hsa-miR-4445-5p	HITS-CLIP	19536157
MIRT724076	hsa-miR-2116-5p	HITS-CLIP	19536157
MIRT724075	hsa-miR-22-5p	HITS-CLIP	19536157
MIRT724074	hsa-miR-4273	HITS-CLIP	19536157
MIRT724073	hsa-miR-7156-5p	HITS-CLIP	19536157
MIRT724072	hsa-miR-4677-5p	HITS-CLIP	19536157
MIRT724071	hsa-miR-3692-3p	HITS-CLIP	19536157
MIRT724070	hsa-miR-6875-3p	HITS-CLIP	19536157
MIRT724069	hsa-miR-6739-3p	HITS-CLIP	19536157
MIRT724084	hsa-miR-6779-3p	HITS-CLIP	19536157
MIRT724083	hsa-miR-4690-3p	HITS-CLIP	19536157
MIRT724082	hsa-miR-5685	HITS-CLIP	19536157
MIRT724081	hsa-miR-140-3p	HITS-CLIP	19536157
MIRT724080	hsa-miR-4308	HITS-CLIP	19536157
MIRT724079	hsa-miR-378j	HITS-CLIP	19536157
MIRT724078	hsa-miR-6839-5p	HITS-CLIP	19536157
MIRT724077	hsa-miR-4445-5p	HITS-CLIP	19536157
MIRT724076	hsa-miR-2116-5p	HITS-CLIP	19536157
MIRT724075	hsa-miR-22-5p	HITS-CLIP	19536157
MIRT724074	hsa-miR-4273	HITS-CLIP	19536157
MIRT724073	hsa-miR-7156-5p	HITS-CLIP	19536157
MIRT724072	hsa-miR-4677-5p	HITS-CLIP	19536157
MIRT724071	hsa-miR-3692-3p	HITS-CLIP	19536157
MIRT724070	hsa-miR-6875-3p	HITS-CLIP	19536157
MIRT724069	hsa-miR-6739-3p	HITS-CLIP	19536157
MIRT2280217	hsa-miR-2116	CLIP-seq
MIRT2280218	hsa-miR-3692	CLIP-seq
MIRT2280219	hsa-miR-4445	CLIP-seq

Show/Hide all (79)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000902	Process	Cell morphogenesis	IBA
GO:0001782	Process	B cell homeostasis	IEA
GO:0001782	Process	B cell homeostasis	ISS
GO:0002262	Process	Myeloid cell homeostasis	IEA
GO:0002262	Process	Myeloid cell homeostasis	ISS
GO:0002687	Process	Positive regulation of leukocyte migration	IMP	32647003
GO:0005096	Function	GTPase activator activity	IMP	16417406
GO:0005515	Function	Protein binding	IPI	16417406, 32647003
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA	16417406
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	NAS	1932118
GO:0005886	Component	Plasma membrane	TAS
GO:0006935	Process	Chemotaxis	IDA	16417406
GO:0009410	Process	Response to xenobiotic stimulus	IMP	17875758
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	1932118
GO:0016477	Process	Cell migration	IBA
GO:0030011	Process	Maintenance of cell polarity	IMP	16417406
GO:0030031	Process	Cell projection assembly	IBA
GO:0030295	Function	Protein kinase activator activity	IMP	16417406
GO:0030667	Component	Secretory granule membrane	TAS
GO:0030838	Process	Positive regulation of actin filament polymerization	IEA
GO:0030838	Process	Positive regulation of actin filament polymerization	IMP	32647003
GO:0030866	Process	Cortical actin cytoskeleton organization	IBA
GO:0030866	Process	Cortical actin cytoskeleton organization	IEA
GO:0030866	Process	Cortical actin cytoskeleton organization	IMP	16417406, 32647003
GO:0030866	Process	Cortical actin cytoskeleton organization	ISS
GO:0030890	Process	Positive regulation of B cell proliferation	IMP	17875758
GO:0031209	Component	SCAR complex	IBA
GO:0031209	Component	SCAR complex	IDA	16417406
GO:0031209	Component	SCAR complex	IEA
GO:0032700	Process	Negative regulation of interleukin-17 production	IEA
GO:0032700	Process	Negative regulation of interleukin-17 production	ISS
GO:0032715	Process	Negative regulation of interleukin-6 production	IEA
GO:0032715	Process	Negative regulation of interleukin-6 production	ISS
GO:0033630	Process	Positive regulation of cell adhesion mediated by integrin	IEA
GO:0033630	Process	Positive regulation of cell adhesion mediated by integrin	ISS
GO:0034101	Process	Erythrocyte homeostasis	IEA
GO:0034101	Process	Erythrocyte homeostasis	ISS
GO:0035556	Process	Intracellular signal transduction	IMP	16417406
GO:0042102	Process	Positive regulation of T cell proliferation	IEA
GO:0042102	Process	Positive regulation of T cell proliferation	IMP	32647003
GO:0042102	Process	Positive regulation of T cell proliferation	ISS
GO:0043029	Process	T cell homeostasis	IEA
GO:0043029	Process	T cell homeostasis	ISS
GO:0043066	Process	Negative regulation of apoptotic process	IMP	17875758
GO:0043318	Process	Negative regulation of cytotoxic T cell degranulation	IMP	32647003
GO:0043372	Process	Positive regulation of CD4-positive, alpha-beta T cell differentiation	IEA
GO:0043372	Process	Positive regulation of CD4-positive, alpha-beta T cell differentiation	ISS
GO:0043378	Process	Positive regulation of CD8-positive, alpha-beta T cell differentiation	IEA
GO:0043378	Process	Positive regulation of CD8-positive, alpha-beta T cell differentiation	ISS
GO:0044877	Function	Protein-containing complex binding	IDA	16417406
GO:0045579	Process	Positive regulation of B cell differentiation	IEA
GO:0045579	Process	Positive regulation of B cell differentiation	ISS
GO:0045588	Process	Positive regulation of gamma-delta T cell differentiation	IEA
GO:0045588	Process	Positive regulation of gamma-delta T cell differentiation	ISS
GO:0045621	Process	Positive regulation of lymphocyte differentiation	IEA
GO:0045621	Process	Positive regulation of lymphocyte differentiation	ISS
GO:0045648	Process	Positive regulation of erythrocyte differentiation	IEA
GO:0045648	Process	Positive regulation of erythrocyte differentiation	ISS
GO:0048812	Process	Neuron projection morphogenesis	IBA
GO:0048821	Process	Erythrocyte development	IEP	7643388
GO:0050853	Process	B cell receptor signaling pathway	IMP	17875758
GO:0060100	Process	Positive regulation of phagocytosis, engulfment	IEA
GO:0060100	Process	Positive regulation of phagocytosis, engulfment	ISS
GO:0065003	Process	Protein-containing complex assembly	IEA
GO:0065003	Process	Protein-containing complex assembly	ISS
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:0070358	Process	Actin polymerization-dependent cell motility	IMP	16417406
GO:0090023	Process	Positive regulation of neutrophil chemotaxis	IEA
GO:0090023	Process	Positive regulation of neutrophil chemotaxis	ISS
GO:0101003	Component	Ficolin-1-rich granule membrane	TAS
GO:1902624	Process	Positive regulation of neutrophil migration	IMP	32647003
GO:1904515	Process	Positive regulation of TORC2 signaling	IMP	32647003
GO:1904841	Function	TORC2 complex binding	IDA	32647003

MIM	HGNC	e!Ensembl
141180	4862	ENSG00000123338

P55160

Protein name

Nck-associated protein 1-like (Hematopoietic protein 1) (Membrane-associated protein HEM-1)

Protein 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

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF09735	Nckap1	7 → 1123	Membrane-associated apoptosis protein	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed only in cells of hematopoietic origin (PubMed:1932118, PubMed:7643388). Expressed in neutrophils (at protein level) (PubMed:16417406). Expressed in T-cells (at protein level) (PubMed:32647003). {ECO:0000269|PubMed:16417406, E

Sequence

MSLTSAYQHKLAEKLTILNDRGQGVLIRMYNIKKTCSDPKSKPPFLLEKSMEPSLKYINK
KFPNIDVRNSTQHLGPVHREKAEIIRFLTNYYQSFVDVMEFRDHVYELLNTIDACQCHFD
INLNFDFTRSYLDLIVTYTSVILLLSRIEDRRILIGMYNCAHEMLHGHGDPSFARLGQMV
LEYDHPLKKLTEEFGPHTKAVSGALLSLHFLFVRRNQGAEQWRSAQLLSLISNPPAMINP
ANSDTMACEYLSVEVMERWIIIGFLLCHGCLNSNSQCQKLWKLCLQGSLYITLIREDVLQ
VHKVTEDLFSSLKGYGKRVADIKESKEHVIANSGQFHCQRRQFLRMAVKELETVLADEPG
LLGPKALFAFMALSFIRDEVTWLVRHTENVTKTKTPEDYADSSIAELLFLLEGIRSLVRR
HIKVIQQYHLQYLARFDALVLSDIIQNLSVCPEEESIIMSSFVSILSSLNLKQVDNGEKF
EFSGLRLDWFRLQAYTSVAKAPLHLHENPDLAKVMNLIVFHSRMLDSVEKLLVETSDLST
FCFHLRIFEKMFAMTLEESAMLRYAIAFPLICAHFVHCTHEMCPEEYPHLKNHGLHHCNS
FLEELAKQTSNCVLEICAEQRNLSEQLLPKHCATTISKAKNKKTRKQRQTPRKGEPERDK
PGAESHRKNRSIVTNMDKLHLNLTELALTMNHVYSFSVFEHTIFPSEYLSSHLEARLNRA
IVWLAGYNATTQEIVRPSELLAGVKAYIGFIQSLAQFLGADASRVIRNALLQQTQPLDSC
GEQTITTLYTNWYLESLLRQASSGTIILSPAMQAFVSLPREGEQNFSAEEFSDISEMRAL
AELLGPYGMKFLSENLMWHVTSQIVELKKLVVENMDILVQIRSNFSKPDLMASLLPQLTG
AENVLKRMTIIGVILSFRAMAQEGLREVFSSHCPFLMGPIECLKEFVTPDTDIKVTLSIF
ELASAAGVGCDIDPALVAAIANLKADTSSPEEEYKVACLLLIFLAVSLPLLATDPSSFYS
IEKDGYNNNIHCLTKAIIQVSAALFTLYNKNIETHLKEFLVVASVSLLQLGQETDKLKTR
NRESISLLMRLVVEESSFLTLDMLESCFPYVLLRNAYREVSRAFHLN

Sequence length

1127

Interactions

View interactions

	KEGG		Reactome
	Regulation of actin cytoskeleton Pathogenic Escherichia coli infection Salmonella infection		Regulation of actin dynamics for phagocytic cup formation VEGFA-VEGFR2 Pathway RHO GTPases Activate WASPs and WAVEs Neutrophil degranulation FCGR3A-mediated phagocytosis

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Immunodeficiency 72 with autoinflammation	Pathogenic; Likely pathogenic	rs2120893783, rs2498579362, rs2498629425, rs2498560491, rs770633648, rs1956961224, rs750982844, rs1956891911	RCV001543701 RCV003152817 RCV003152818 RCV003338074 RCV001254324 RCV001254325 RCV001254326 RCV001254327 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (13)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL HYPERINFLAMMATORY LYMPHOPROLIFERATIVE IMMUNODEFICIENCY	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION AND LYMPHOPROLIFERATION	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NCKAP1L-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (9)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alzheimer Disease	Alzheimer disease	Pubtator	35954209	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	34898354	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
B-CELL MALIGNANCY, LOW-GRADE	Lymphocytic Leukemia	BEFREE	17875758		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	32733620	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	17875758		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	39290707	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Moyamoya Disease	Moyamoya disease	Pubtator	39290707	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	9855464		★★★★★ ★☆☆☆☆ Found in Text Mining only
Wiskott-Aldrich Syndrome	Wiskott-Aldrich Syndrome	BEFREE	29915352		★★★★★ ★☆☆☆☆ Found in Text Mining only

NCKAP1L (NCK associated protein 1 like)