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NCKAP1L NCK associated protein 1 like [ Homo sapiens (human) ]

Gene ID: 3071, updated on 5-Sep-2021

Summary

Official Symbol
NCKAP1Lprovided by HGNC
Official Full Name
NCK associated protein 1 likeprovided by HGNC
Primary source
HGNC:HGNC:4862
See related
Ensembl:ENSG00000123338 MIM:141180
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HEM1; IMD72
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 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]
Expression
Broad expression in lymph node (RPKM 38.4), appendix (RPKM 34.7) and 18 other tissues See more
Orthologs
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Genomic context

See NCKAP1L in Genome Data Viewer
Location:
12q13.13-q13.2
Exon count:
32
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (54497752..54548243)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (54891536..54942027)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724050 Neighboring gene integrin subunit alpha 5 Neighboring gene gametocyte specific factor 1 Neighboring gene phosphodiesterase 1B Neighboring gene protein phosphatase 1 regulatory inhibitor subunit 1A

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Immunodeficiency 72 with autoinflammation
MedGen: C5436540 OMIM: 618982 GeneReviews: Not available
Compare labs
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

HIV-1 interactions

Replication interactions

Interaction Pubs
HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of NCKAP1L PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTPase activator activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables TORC2 complex binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein kinase activator activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables protein-containing complex binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in B cell homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in B cell receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in T cell homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in actin polymerization-dependent cell motility IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in activation of protein kinase activity IEA
Inferred from Electronic Annotation
more info
 
involved_in cell migration IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cell morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cell projection assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in chemotaxis IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cortical actin cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cortical actin cytoskeleton organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cortical actin cytoskeleton organization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in erythrocyte development IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in erythrocyte homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in maintenance of cell polarity IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in myeloid cell homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of cytotoxic T cell degranulation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of interleukin-17 production ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of interleukin-6 production ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of myosin-light-chain-phosphatase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in neuron projection morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in neutrophil chemotaxis IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of B cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of B cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of CD4-positive, alpha-beta T cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of CD8-positive, alpha-beta T cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of T cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of T cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of TORC2 signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of actin filament polymerization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of cell adhesion mediated by integrin ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of erythrocyte differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of gamma-delta T cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of leukocyte migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of lymphocyte differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of neutrophil chemotaxis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of neutrophil migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of phagocytosis, engulfment ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of phosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein-containing complex assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in response to xenobiotic stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
part_of SCAR complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of SCAR complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in extracellular exosome HDA PubMed 
located_in ficolin-1-rich granule membrane TAS
Traceable Author Statement
more info
 
located_in integral component of plasma membrane NAS
Non-traceable Author Statement
more info
PubMed 
located_in membrane HDA PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in secretory granule membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
nck-associated protein 1-like
Names
hematopoietic protein 1
membrane-associated protein hem-1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001184976.2NP_001171905.1  nck-associated protein 1-like isoform 2

    See identical proteins and their annotated locations for NP_001171905.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an alternate 5' exon, resulting in a downstream in-frame AUG start codon, as compared to variant 1. The resulting isoform (2) has a shorter N-terminus, as compared to isoform 1.
    Source sequence(s)
    AC068789, AC079313, AK300783, AW575485
    Consensus CDS
    CCDS53799.1
    UniProtKB/Swiss-Prot
    P55160
    Related
    ENSP00000445596.2, ENST00000545638.2
    Conserved Domains (1) summary
    pfam09735
    Location:11073
    Nckap1; Membrane-associated apoptosis protein
  2. NM_005337.5NP_005328.2  nck-associated protein 1-like isoform 1

    See identical proteins and their annotated locations for NP_005328.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC068789, AW575485, BC093769, BC093771, DA820115, M58285
    Consensus CDS
    CCDS31813.1
    UniProtKB/Swiss-Prot
    P55160
    Related
    ENSP00000293373.6, ENST00000293373.11
    Conserved Domains (1) summary
    pfam09735
    Location:111123
    Nckap1; Membrane-associated apoptosis protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    54497752..54548243
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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