HCLS1 (hematopoietic cell-specific Lyn substrate 1)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 3059
Gene name Hematopoietic cell-specific Lyn substrate 1
Gene symbol HCLS1
Synonyms (NCBI Gene)
CTTNLHS1lckBP1p75
Chromosome 3
Chromosome location 3q13.33
miRNA miRNA information provided by mirtarbase database.
39
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (39)
miRTarBase ID miRNA Experiments Reference
MIRT041795 hsa-miR-484 CLASH 23622248
MIRT1042051 hsa-miR-103a CLIP-seq
MIRT1042052 hsa-miR-107 CLIP-seq
MIRT1042053 hsa-miR-128 CLIP-seq
MIRT1042054 hsa-miR-1301 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
42
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (42)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0005515 Function Protein binding IPI 16189514, 21044950, 21398607, 25416956, 31515488, 32296183
GO:0005634 Component Nucleus IDA 23001182
GO:0005634 Component Nucleus IEA
GO:0005634 Component Nucleus ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
601306 4844 ENSG00000180353
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P14317
Protein name Hematopoietic lineage cell-specific protein (Hematopoietic cell-specific LYN substrate 1) (LckBP1) (p75)
Protein 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.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02218 HS1_rep 82 → 117 Repeat in HS1/Cortactin Repeat
PF02218 HS1_rep 119 → 154 Repeat in HS1/Cortactin Repeat
PF02218 HS1_rep 156 → 191 Repeat in HS1/Cortactin Repeat
PF02218 HS1_rep 193 → 220 Repeat in HS1/Cortactin Repeat
PF00018 SH3_1 434 → 479 SH3 domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed only in tissues and cells of hematopoietic origin.
Sequence 
MWKSVVGHDVSVSVETQGDDWDTDPDFVNDISEKEQRWGAKTIEGSGRTEHINIHQLRNK
VSEEHDVLRKKEMESGPKASHGYGGRFGVERDRMDKSAVGHEYVAEVEKHSSQTDAAKGF
GGKYGVERDRADKSAVGFDYKGEVEKHTSQKDYSRGFGGRYGVEKDKWDKAALGYDYKGE
TEKHESQRDYAKGFGGQYGIQKDRVDKSAVGFNEMEAPTTAYKKTTPIEAASSGTRGLKA
KFESMAEEKRKREEEEKAQQVARRQQERKAVTKRSPEAPQPVIAMEEPAVPAPLPKKISS
EAWPPVGTPPSSESEPVRTSREHPVPLLPIRQTLPEDNEEPPALPPRTLEGLQVEEEPVY
EAEPEPEPEPEPEPENDYEDVEEMDRHEQEDEPEGDYEEVLEPEDSSFSSALAGSSGCPA
GAGAGAVALGISAVAVYDYQGEGSDELSFDPDDVITDIEMVDEGWWRGRCHGHFGLFPAN
YVKLLE
Sequence length 486
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG 
  Tight junction
Bacterial invasion of epithelial cells
Pathogenic Escherichia coli infection
Shigellosis
Proteoglycans in cancer 		 
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (2)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ARTHRITIS, RHEUMATOID — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (98)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute leukemia Leukemia BEFREE 16173964
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of prostate Prostate adenocarcinoma BEFREE 15948150
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma BEFREE 17550129
★★★★★
★☆☆☆☆
Found in Text Mining only
Allergic rhinitis (disorder) Allergic rhinitis BEFREE 22626591
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 15056289, 21908873, 24475283, 28228570, 28698670
★★★★★
★☆☆☆☆
Found in Text Mining only
Ankylosing spondylitis Ankylosing Spondylitis BEFREE 22984424
★★★★★
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 14613990
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis BEFREE 16947419
★★★★★
★☆☆☆☆
Found in Text Mining only
B-CELL MALIGNANCY, LOW-GRADE Lymphocytic Leukemia BEFREE 22333038, 8329708
★★★★★
★☆☆☆☆
Found in Text Mining only
Behcet Syndrome Behcet disease Pubtator 37264476 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only