Human Gene HCLS1 (ENST00000314583.8_7) from GENCODE V47lift37
  Description: hematopoietic cell-specific Lyn substrate 1, transcript variant 1 (from RefSeq NM_005335.6)
Gencode Transcript: ENST00000314583.8_7
Gencode Gene: ENSG00000180353.11_9
Transcript (Including UTRs)
   Position: hg19 chr3:121,350,246-121,379,750 Size: 29,505 Total Exon Count: 14 Strand: -
Coding Region
   Position: hg19 chr3:121,350,693-121,377,194 Size: 26,502 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:121,350,246-121,379,750)mRNA (may differ from genome)Protein (486 aa)
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WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: HCLS1_HUMAN
DESCRIPTION: RecName: Full=Hematopoietic lineage cell-specific protein; AltName: Full=Hematopoietic cell-specific LYN substrate 1; AltName: Full=LckBP1; AltName: Full=p75;
FUNCTION: Substrate of the antigen receptor-coupled tyrosine kinase. Plays a role in antigen receptor signaling for both clonal expansion and deletion in lymphoid cells. May also be involved in the regulation of gene expression.
SUBUNIT: Associates with the SH2 and SH3 domains of LCK. Binding to he LCK SH3 domain occurs constitutively, while binding to the LCK SH2 domain occurs only upon TCR stimulation. A similar binding pattern was observed with LYN, but not with FYN in which the FYN SH2 region associates upon TCR stimulation but the FYN SH3 region does not associate regardless of TCR stimulation. Directly associates with HAX1, through binding to its C-terminal region. Interacts with HS1BP3. Interacts with FES/FPS (By similarity). Interacts (via SH2 domain) with FGR. Forms a multiprotein complex with LYN and ANKRD54 (By similarity).
SUBCELLULAR LOCATION: Membrane; Peripheral membrane protein. Cytoplasm. Mitochondrion (Probable).
TISSUE SPECIFICITY: Expressed only in tissues and cells of hematopoietic origin.
DEVELOPMENTAL STAGE: Expressed in early stage of myeloid and erythroid differentiation.
PTM: Phosphorylated by FES (By similarity). Phosphorylated by LYN, FYN and FGR after cross-linking of surface IgM on B-cells. Phosphorylation by LYN, FYN and FGR requires prior phosphorylation by SYK or FES.
SIMILARITY: Contains 4 cortactin repeats.
SIMILARITY: Contains 1 SH3 domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: HCLS1
Diseases sorted by gene-association score: spherocytosis, type 1 (13), congenital hemolytic anemia (4), hereditary spherocytosis (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 180.97 RPKM in Whole Blood
Total median expression: 792.04 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -22.6084-0.269 Picture PostScript Text
3' UTR -130.60447-0.292 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003134 - Hs1_Cortactin
IPR000108 - p67phox
IPR001452 - SH3_domain

Pfam Domains:
PF00018 - SH3 domain
PF02218 - Repeat in HS1/Cortactin
PF07653 - Variant SH3 domain
PF14604 - Variant SH3 domain

SCOP Domains:
50044 - SH3-domain

ModBase Predicted Comparative 3D Structure on P14317
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001085 RNA polymerase II transcription factor binding
GO:0003779 actin binding
GO:0005515 protein binding
GO:0017124 SH3 domain binding
GO:0019901 protein kinase binding
GO:0044877 macromolecular complex binding

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0006355 regulation of transcription, DNA-templated
GO:0008284 positive regulation of cell proliferation
GO:0009725 response to hormone
GO:0014068 positive regulation of phosphatidylinositol 3-kinase signaling
GO:0030041 actin filament polymerization
GO:0030218 erythrocyte differentiation
GO:0030833 regulation of actin filament polymerization
GO:0030854 positive regulation of granulocyte differentiation
GO:0033138 positive regulation of peptidyl-serine phosphorylation
GO:0035556 intracellular signal transduction
GO:0042307 positive regulation of protein import into nucleus
GO:0042531 positive regulation of tyrosine phosphorylation of STAT protein
GO:0045651 positive regulation of macrophage differentiation
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0050731 positive regulation of peptidyl-tyrosine phosphorylation
GO:0051091 positive regulation of sequence-specific DNA binding transcription factor activity
GO:0051897 positive regulation of protein kinase B signaling
GO:0071345 cellular response to cytokine stimulus
GO:2000107 negative regulation of leukocyte apoptotic process
GO:2000251 positive regulation of actin cytoskeleton reorganization

Cellular Component:
GO:0005634 nucleus
GO:0005667 transcription factor complex
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0016020 membrane


-  Descriptions from all associated GenBank mRNAs
  AK225633 - Homo sapiens mRNA for hematopoietic cell-specific Lyn substrate 1 variant, clone: SPL07546.
BC016758 - Homo sapiens hematopoietic cell-specific Lyn substrate 1, mRNA (cDNA clone MGC:1442 IMAGE:2966303), complete cds.
X16663 - Human HS1 gene for heamatopoietic lineage cell specific protein.
AK298696 - Homo sapiens cDNA FLJ59379 complete cds, highly similar to Hematopoietic lineage cell-specific protein.
AK312750 - Homo sapiens cDNA, FLJ93159, Homo sapiens hematopoietic cell-specific Lyn substrate 1 (HCLS1), mRNA.
KJ896961 - Synthetic construct Homo sapiens clone ccsbBroadEn_06355 HCLS1 gene, encodes complete protein.
BT006824 - Homo sapiens hematopoietic cell-specific Lyn substrate 1 mRNA, complete cds.
DQ890664 - Synthetic construct clone IMAGE:100003294; FLH164899.01X; RZPDo839D05158D hematopoietic cell-specific Lyn substrate 1 (HCLS1) gene, encodes complete protein.
DQ893844 - Synthetic construct Homo sapiens clone IMAGE:100008304; FLH164895.01L; RZPDo839D05157D hematopoietic cell-specific Lyn substrate 1 (HCLS1) gene, encodes complete protein.
AB463725 - Synthetic construct DNA, clone: pF1KB7742, Homo sapiens HCLS1 gene for hematopoietic cell-specific Lyn substrate 1, without stop codon, in Flexi system.
CR456794 - Homo sapiens full open reading frame cDNA clone RZPDo834A0918D for gene HCLS1, hematopoietic cell-specific Lyn substrate 1; complete cds, incl. stopcodon.
AK298663 - Homo sapiens cDNA FLJ54279 complete cds, highly similar to Hematopoietic lineage cell-specific protein.
CU677709 - Synthetic construct Homo sapiens gateway clone IMAGE:100017356 5' read HCLS1 mRNA.
AK300301 - Homo sapiens cDNA FLJ59981 complete cds, highly similar to Hematopoietic lineage cell-specific protein.
AK124015 - Homo sapiens cDNA FLJ42021 fis, clone SPLEN2034448, highly similar to HEMATOPOIETIC LINEAGE CELL SPECIFIC PROTEIN.
JD236003 - Sequence 217027 from Patent EP1572962.
JD283503 - Sequence 264527 from Patent EP1572962.
JD261239 - Sequence 242263 from Patent EP1572962.
JD380786 - Sequence 361810 from Patent EP1572962.
JD189397 - Sequence 170421 from Patent EP1572962.
JD521486 - Sequence 502510 from Patent EP1572962.
JD298474 - Sequence 279498 from Patent EP1572962.
JD330750 - Sequence 311774 from Patent EP1572962.
JD201803 - Sequence 182827 from Patent EP1572962.
JD419432 - Sequence 400456 from Patent EP1572962.
JD465456 - Sequence 446480 from Patent EP1572962.
JD095759 - Sequence 76783 from Patent EP1572962.
DL491706 - Novel nucleic acids.
DL490287 - Novel nucleic acids.

-  Other Names for This Gene
  Alternate Gene Symbols: B4DQ69, ENST00000314583.1, ENST00000314583.2, ENST00000314583.3, ENST00000314583.4, ENST00000314583.5, ENST00000314583.6, ENST00000314583.7, HCLS1_HUMAN, HS1, NM_005335, P14317, Q53Y93, Q6IBK9, Q9UDK0, uc317pqu.1, uc317pqu.2
UCSC ID: ENST00000314583.8_7
RefSeq Accession: NM_005335.6
Protein: P14317 (aka HCLS1_HUMAN or HS1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.