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

Gene ID: 57091, updated on 11-Apr-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 protein kinase B signaling; positive regulation of protein tyrosine kinase activity; and positive regulation of substrate adhesion-dependent cell spreading. Located in focal adhesion. Part of cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
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_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (56412036..56460382)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (58189527..58237872)
105.20220307 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
  • 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 (20) 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 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_2023_10

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

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