HCLS1 hematopoietic cell-specific Lyn substrate 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: HCLS1provided by HGNC
Official Full Name: hematopoietic cell-specific Lyn substrate 1provided by HGNC
Primary source: HGNC:HGNC:4844
See related: Ensembl:ENSG00000180353 MIM:601306; AllianceGenome:HGNC:4844
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: HS1; p75; CTTNL; lckBP1
Summary: Enables RNA polymerase II-specific DNA-binding transcription factor binding activity; protein kinase binding activity; and signaling adaptor activity. Involved in several processes, including granulocyte colony-stimulating factor signaling pathway; positive regulation of macromolecule metabolic process; and positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction. Located in cytosol; nucleus; and plasma membrane. Part of transcription regulator complex. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in spleen (RPKM 118.5), lymph node (RPKM 107.3) and 16 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3q13.33

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (121631399..121660903, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (124351297..124380795, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (121350246..121379750, complement)

Chromosome 3 - NC_000003.12 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?

Correlation between elevated HCLS1 levels and heart failure: A diagnostic biomarker.
Title: Correlation between elevated HCLS1 levels and heart failure: A diagnostic biomarker.
Hematopoietic cell-specific Lyn substrate, HCLS1, is a versatile actin-binding protein in leukocytes. (Review)
Title: Hematopoietic cell-specific lyn substrate (HCLS1 or HS1): A versatile actin-binding protein in leukocytes.
these studies indicate HS1 plays an important role in ROR1-dependent Wnt5a-enhanced chemokine-directed leukemia-cell migration.
Title: Wnt5a induces ROR1 to complex with HS1 to enhance migration of chronic lymphocytic leukemia cells.
SDF1alpha-induced interaction of the adapter proteins Nck and HS1 facilitates actin polymerization and migration in T cells.
Title: SDF1α-induced interaction of the adapter proteins Nck and HS1 facilitates actin polymerization and migration in T cells.
Phosphoproteome analyses reveal specific implications of Hcls1, p21-activated kinase 1 and Ezrin in proliferation of a myeloid progenitor cell line downstream of wild-type and ITD mutant Fms-like tyrosine kinase 3 receptors.
Title: Phosphoproteome analyses reveal specific implications of Hcls1, p21-activated kinase 1 and Ezrin in proliferation of a myeloid progenitor cell line downstream of wild-type and ITD mutant Fms-like tyrosine kinase 3 receptors.
interaction of HCLS1 with LEF-1 is essential for G-CSF-triggered myeloid differentiation; data demonstrate the importance of HCLS1 in myelopoiesis in vitro and in vivo
Title: Interactions among HCLS1, HAX1 and LEF-1 proteins are essential for G-CSF-triggered granulopoiesis.
HS1 overexpressed in leukemic as compared to normal B lymphocytes.
Title: HS1, a Lyn kinase substrate, is abnormally expressed in B-chronic lymphocytic leukemia and correlates with response to fludarabine-based regimen.
a novel role for HS1 and its phosphorylation during neutrophil directed migration.
Title: The actin regulatory protein HS1 interacts with Arp2/3 and mediates efficient neutrophil chemotaxis.
High HS1 expression predicts poor survival of chronic lymphocytic leukemia patients.
Title: High expression of hematopoietic cell specific Lyn substrate-1 (HS1) predicts poor survival of B-cell chronic lymphocytic leukemia patients.
SH3 domain of HS1 protein recognizes lysine-rich polyproline motifs.
Title: The SH3 domain of HS1 protein recognizes lysine-rich polyproline motifs.

Submit: New GeneRIF Correction See all GeneRIFs (18)

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

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

D3S3431 (e-PCR)
- UniSTS:45905

RH123126 (e-PCR)
- UniSTS:135507

STS-X16663 (e-PCR)
- UniSTS:22874

RH68808 (e-PCR)
- UniSTS:11374

D3S3434 (e-PCR)
- UniSTS:42391

D3S3443 (e-PCR)
- UniSTS:38893

STS-X16663 (e-PCR)
- UniSTS:50669

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA polymerase II-specific DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables SH3 domain binding	IEA Inferred from Electronic Annotation more info
enables actin filament binding	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling adaptor activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in actin filament organization	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to cytokine stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in erythrocyte differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in granulocyte colony-stimulating factor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of leukocyte apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in nuclear transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell population proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of granulocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of macrophage differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of peptidyl-tyrosine phosphorylation	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 import into nucleus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of DNA-templated transcription	TAS Traceable Author Statement more info	PubMed
involved_in regulation of actin filament polymerization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to hormone	ISS Inferred from Sequence or Structural Similarity more info
involved_in signal transduction	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	IDA Inferred from Direct Assay more info
is_active_in endocytic vesicle	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IEA Inferred from Electronic Annotation more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
part_of transcription regulator complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: hematopoietic lineage cell-specific 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_001292041.2 → NP_001278970.2 hematopoietic lineage cell-specific protein isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an exon in the coding region compared to variant 1. The resulting protein (isoform 2) is shorter but has the same N- and C-termini compared to isoform 1.

Source sequence(s)

AC133750

Consensus CDS

CCDS77800.1

UniProtKB/TrEMBL

B4DQ92, E7EVW7

Related

ENSP00000387645.2, ENST00000428394.6

Conserved Domains (3) summary

PHA02682
Location:222 → 311

PHA02682; ORF080 virion core protein; Provisional

cd12073
Location:394 → 448

SH3_HS1; Src homology 3 domain of Hematopoietic lineage cell-specific protein 1

pfam02218
Location:119 → 152

HS1_rep; Repeat in HS1/Cortactin
NM_005335.6 → NP_005326.3 hematopoietic lineage cell-specific protein isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer protein (isoform 1).

Source sequence(s)

AC133750

Consensus CDS

CCDS3003.1

UniProtKB/Swiss-Prot

B4DQ69, P14317, Q53Y93, Q6IBK9, Q9UDK0

UniProtKB/TrEMBL

B4DQ92

Related

ENSP00000320176.3, ENST00000314583.8

Conserved Domains (3) summary

cd12073
Location:431 → 485

SH3_HS1; Src homology 3 domain of Hematopoietic lineage cell-specific protein 1

pfam02218
Location:119 → 154

HS1_rep; Repeat in HS1/Cortactin

cl25800
Location:259 → 348

GGN; Gametogenetin