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

Summary

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: mouse all
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Genomic context

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_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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 EBI GWAS CatalogPubMed
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D20S775 (e-PCR)
- UniSTS:35866

SHGC-85749 (e-PCR)
- UniSTS:103778

RH36905 (e-PCR)
- UniSTS:87932

D20S777 (e-PCR)
- UniSTS:37373

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)

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)
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
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)
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

NC_000020.11 Reference GRCh38.p14 Primary Assembly

Range

56412036..56460382

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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)