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    CASS4 Cas scaffold protein family member 4 [ Homo sapiens (human) ]

    Gene ID: 57091, updated on 2-Nov-2024

    Summary

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    Official Symbol
    CASS4provided by HGNC
    Official Full Name
    Cas scaffold protein family member 4provided by HGNC
    Primary source
    HGNC:HGNC:15878
    See related
    Ensembl:ENSG00000087589 MIM:618888; AllianceGenome:HGNC:15878
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CAS4; HEFL; HEPL; C20orf32
    Summary
    Enables protein tyrosine kinase binding activity. Involved in several processes, including positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction; positive regulation of protein tyrosine kinase activity; and positive regulation of substrate adhesion-dependent cell spreading. Located in cytoplasm and focal adhesion. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in lung (RPKM 5.8), appendix (RPKM 4.9) and 15 other tissues See more
    Orthologs
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    Genomic context

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    See CASS4 in Genome Data Viewer
    Location:
    20q13.31
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (56412036..56460382)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (58189527..58237872)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (54987092..55035438)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene aurora kinase A Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr20:54961142-54962341 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18142 Neighboring gene cleavage stimulation factor subunit 1 Neighboring gene ribosomal protein L39 pseudogene Neighboring gene small nucleolar RNA U13 Neighboring gene replication termination factor 2 Neighboring gene MPRA-validated peak4281 silencer Neighboring gene glucosaminyl (N-acetyl) transferase family member 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:55086509-55087317 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:55087318-55088125 Neighboring gene family with sequence similarity 209 member A

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Overexpression and cytoplasmic accumulation of Hepl is associated with clinicopathological parameters and poor prognosis in non-small cell lung cancer. Miao Y, et al. Tumour Biol, 2013 Feb. PMID 23001926
    2. Exploring the mechanistic insights of Cas scaffolding protein family member 4 with protein tyrosine kinase 2 in Alzheimer's disease by evaluating protein interactions through molecular docking and dynamic simulations. Hassan M, et al. Neurol Sci, 2018 Aug. PMID 29789968
    3. Embryonal Fyn-associated substrate (EFS) and CASS4: The lesser-known CAS protein family members. Deneka A, et al. Gene, 2015 Oct 1. PMID 26119091, Free PMC Article
    4. CAS proteins in health and disease: an update. Nikonova AS, et al. IUBMB Life, 2014 Jun. PMID 24962474, Free PMC Article
    5. Overexpression of CASS4 promotes invasion in non-small cell lung cancer by activating the AKT signaling pathway and inhibiting E-cadherin expression. Li A, et al. Tumour Biol, 2016 Nov. PMID 27677288

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The results of this study showed that Cas scaffolding protein family member 4 with protein tyrosine kinase 2 and their significant role in the activation of downstream signaling pathways in Alzheimer's disease.
      Title: Exploring the mechanistic insights of Cas scaffolding protein family member 4 with protein tyrosine kinase 2 in Alzheimer's disease by evaluating protein interactions through molecular docking and dynamic simulations.
    2. High expression of CASS4 is associated with invasion in non-small cell lung cancer.
      Title: Overexpression of CASS4 promotes invasion in non-small cell lung cancer by activating the AKT signaling pathway and inhibiting E-cadherin expression.
    3. EFS and CASS4 protein function in the context of the larger CAS family group. [Review]
      Title: Embryonal Fyn-associated substrate (EFS) and CASS4: The lesser-known CAS protein family members.
    4. Hepl is overexpressed in the nucleus and aberrantly accumulates in the cytoplasm of non-small cell lung cancer cells, and Hepl may play a role in the progression of lung cancer, including lymph node metastasis and TNM stage.
      Title: Overexpression and cytoplasmic accumulation of Hepl is associated with clinicopathological parameters and poor prognosis in non-small cell lung cancer.
    5. HEPL maintains Cas family function in localization to focal adhesions, as well as regulation of FAK activity, focal adhesion integrity, and cell spreading.
      Title: A novel Cas family member, HEPL, regulates FAK and cell spreading.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.
    EBI GWAS Catalog
    Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein tyrosine kinase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell adhesion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell migration IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cell surface receptor protein tyrosine kinase signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of cell migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of protein tyrosine kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of substrate adhesion-dependent cell spreading IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in focal adhesion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    colocalizes_with plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    cas scaffolding protein family member 4
    Names
    HEF-like protein
    HEF1-EFS-p130Cas-like protein

    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_001164114.2 → NP_001157586.1  cas scaffolding protein family member 4 isoform b

      See identical proteins and their annotated locations for NP_001157586.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice junction at the 3' end of an exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AK027760, AK295613, AL121914, DA584687
      Consensus CDS
      CCDS93062.1
      UniProtKB/TrEMBL
      B4DII4
      Related
      ENSP00000505834.1, ENST00000679529.1
      Conserved Domains (3) summary
      cd11551
      Location:381 → 539
      Serine_rich_CASS4; Serine rich Four helix bundle domain of CAS (Crk-Associated Substrate) scaffolding protein family member 4; a protein interaction module
      cd12000
      Location:14 → 70
      SH3_CASS4; Src homology 3 domain of CAS (Crk-Associated Substrate) scaffolding protein family member 4
      pfam12026
      Location:541 → 731
      DUF3513; Domain of unknown function (DUF3513)

    2. NM_001164115.2 → NP_001157587.1  cas scaffolding protein family member 4 isoform c

      See identical proteins and their annotated locations for NP_001157587.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (c) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AK027760, AK295613, AL121914, DA584687
      Consensus CDS
      CCDS54475.1
      UniProtKB/Swiss-Prot
      Q9NQ75
      UniProtKB/TrEMBL
      B4DII4
      Related
      ENSP00000410027.1, ENST00000434344.2
      Conserved Domains (2) summary
      cd12000
      Location:14 → 70
      SH3_CASS4; Src homology 3 domain of CAS (Crk-Associated Substrate) scaffolding protein family member 4
      cl13463
      Location:228 → 349
      FAT-like_CAS_C; C-terminal FAT-like Four helix bundle domain, also called DUF3513, of CAS (Crk-Associated Substrate) scaffolding proteins; a protein interaction module

    3. NM_001164116.2 → NP_001157588.1  cas scaffolding protein family member 4 isoform a

      See identical proteins and their annotated locations for NP_001157588.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Variants 1 and 2 both encode isoform a.
      Source sequence(s)
      AJ276678, AK027760, AK295613, AK314653, AL121914
      Consensus CDS
      CCDS33492.1
      UniProtKB/Swiss-Prot
      E1P5Z8, Q5QPD6, Q96K09, Q9BYL5, Q9NQ75
      Related
      ENSP00000353462.3, ENST00000360314.7
      Conserved Domains (3) summary
      cd11551
      Location:435 → 593
      Serine_rich_CASS4; Serine rich Four helix bundle domain of CAS (Crk-Associated Substrate) scaffolding protein family member 4; a protein interaction module
      cd12000
      Location:14 → 70
      SH3_CASS4; Src homology 3 domain of CAS (Crk-Associated Substrate) scaffolding protein family member 4
      pfam12026
      Location:595 → 785
      DUF3513; Domain of unknown function (DUF3513)

    4. NM_020356.4 → NP_065089.2  cas scaffolding protein family member 4 isoform a

      See identical proteins and their annotated locations for NP_065089.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode isoform a.
      Source sequence(s)
      AK027760, AK295613, AK314653, AL121914, DA584687
      Consensus CDS
      CCDS33492.1
      UniProtKB/Swiss-Prot
      E1P5Z8, Q5QPD6, Q96K09, Q9BYL5, Q9NQ75
      Related
      ENSP00000506506.1, ENST00000679887.1
      Conserved Domains (3) summary
      cd11551
      Location:435 → 593
      Serine_rich_CASS4; Serine rich Four helix bundle domain of CAS (Crk-Associated Substrate) scaffolding protein family member 4; a protein interaction module
      cd12000
      Location:14 → 70
      SH3_CASS4; Src homology 3 domain of CAS (Crk-Associated Substrate) scaffolding protein family member 4
      pfam12026
      Location:595 → 785
      DUF3513; Domain of unknown function (DUF3513)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      56412036..56460382
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006723831.4 → XP_006723894.1  cas scaffolding protein family member 4 isoform X1

      See identical proteins and their annotated locations for XP_006723894.1

      UniProtKB/TrEMBL
      B4DII4
      Conserved Domains (3) summary
      cd11551
      Location:381 → 539
      Serine_rich_CASS4; Serine rich Four helix bundle domain of CAS (Crk-Associated Substrate) scaffolding protein family member 4; a protein interaction module
      cd12000
      Location:14 → 70
      SH3_CASS4; Src homology 3 domain of CAS (Crk-Associated Substrate) scaffolding protein family member 4
      pfam12026
      Location:541 → 731
      DUF3513; Domain of unknown function (DUF3513)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      58189527..58237872
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054323724.1 → XP_054179699.1  cas scaffolding protein family member 4 isoform X1

      UniProtKB/TrEMBL
      B4DII4
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NQ75.2 GenPept UniProtKB/Swiss-Prot:Q9NQ75

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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