This gene encodes a Src homology 2 domain-binding protein 1-like protein. The encoded protein interacts with heat shock 70 kDa protein 2 and may be involved in maintaining spindle integrity during meiosis. This gene is located in region of chromoso0me 1 encompassing a prostate cancer susceptibility locus. [provided by RefSeq, Sep 2016] See more...

Aliases for SHCBP1L Gene

Aliases for SHCBP1L Gene

  • SHC Binding And Spindle Associated 1 Like 2 3 5
  • Testicular Spindle-Associated Protein SHCBP1L 3 4
  • SHC SH2 Domain-Binding Protein 1-Like Protein 3 4
  • SHC SH2-Domain Binding Protein 1-Like 2 3
  • C1orf14 3 4
  • Chromosome 1 Open Reading Frame 14 2
  • SHCBP1L 5
  • GE36 3

External Ids for SHCBP1L Gene

Previous HGNC Symbols for SHCBP1L Gene

  • C1orf14

Previous GeneCards Identifiers for SHCBP1L Gene

  • GC01M182870

Summaries for SHCBP1L Gene

Entrez Gene Summary for SHCBP1L Gene

  • This gene encodes a Src homology 2 domain-binding protein 1-like protein. The encoded protein interacts with heat shock 70 kDa protein 2 and may be involved in maintaining spindle integrity during meiosis. This gene is located in region of chromoso0me 1 encompassing a prostate cancer susceptibility locus. [provided by RefSeq, Sep 2016]

GeneCards Summary for SHCBP1L Gene

SHCBP1L (SHC Binding And Spindle Associated 1 Like) is a Protein Coding gene. Diseases associated with SHCBP1L include Myoclonic Cerebellar Dyssynergia. Among its related pathways are Jak Stat Signaling Pathway and MAPK Erk Pathway. An important paralog of this gene is SHCBP1.

UniProtKB/Swiss-Prot Summary for SHCBP1L Gene

  • Testis-specific spindle-associated factor that plays a role in spermatogenesis. In association with HSPA2, participates in the maintenance of spindle integrity during meiosis in male germ cells.

Additional gene information for SHCBP1L Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SHCBP1L Gene

Genomics for SHCBP1L Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SHCBP1L Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J182952 Promoter 0.7 EPDnew Ensembl 600.7 +0.6 620 0.6 SHCBP1L ENSG00000285609 RNA5SP71 RF00001-022 DHX9
GH01J183277 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.6 -327.3 -327317 6.8 CEBPG CTCF FOXA1 ZNF143 ZIC2 REST RAD21 IKZF2 ZNF24 TRIM22 SHCBP1L ENSG00000226570 LAMC2 NCF2 ARPC5 LAMC1 lnc-LAMC2-3 piR-42694-014 NMNAT2
GH01J183069 Enhancer 1.3 Ensembl ENCODE dbSUPER 10.2 -119.5 -119476 9.6 SP1 GATAD2A ZNF629 RCOR2 ZNF7 PRDM1 RELA ZIC2 ZSCAN4 RXRB LAMC1-AS1 LAMC1 DHX9 HMGN1P4 ENSG00000226570 SHCBP1L piR-37895-013 MN309025 LAMC2
GH01J183233 Enhancer 1.1 ENCODE CraniofacialAtlas 10.7 -282.0 -281972 3.1 CTCF ZBTB33 TEAD4 PRDM10 ZNF629 ZNF692 PRDM1 ZIC2 ZSCAN4 PATZ1 RF00017-419 LAMC2 HMGN1P4 DHX9 ENSG00000226570 SHCBP1L SMG7 RNU6-41P lnc-LAMC1-1 NMNAT2
GH01J183227 Enhancer 0.9 Ensembl ENCODE 10.9 -274.6 -274576 3 CTCF RAD21 TRIM22 ZNF561 EED ZBTB44 TCF7L2 RUNX3 ESR1 CEBPB LAMC2 SHCBP1L ENSG00000226570 RNU6-41P NPL RF00017-419 NMNAT2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SHCBP1L on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SHCBP1L

Genomic Locations for SHCBP1L Gene

Genomic Locations for SHCBP1L Gene
chr1:182,899,865-182,953,525
(GRCh38/hg38)
Size:
53,661 bases
Orientation:
Minus strand
chr1:182,869,000-182,922,660
(GRCh37/hg19)
Size:
53,661 bases
Orientation:
Minus strand

Genomic View for SHCBP1L Gene

Genes around SHCBP1L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SHCBP1L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SHCBP1L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SHCBP1L Gene

Proteins for SHCBP1L Gene

  • Protein details for SHCBP1L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BZQ2-SHP1L_HUMAN
    Recommended name:
    Testicular spindle-associated protein SHCBP1L
    Protein Accession:
    Q9BZQ2
    Secondary Accessions:
    • Q4G195
    • Q9BZQ3
    • Q9H2B6

    Protein attributes for SHCBP1L Gene

    Size:
    653 amino acids
    Molecular mass:
    72632 Da
    Quaternary structure:
    • Interacts with HSPA2; this interaction may promote the recruitment of HSPA2 to the spindle.
    SequenceCaution:
    • Sequence=AAG60617.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for SHCBP1L Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SHCBP1L Gene

Post-translational modifications for SHCBP1L Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SHCBP1L Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SHCBP1L Gene

Domains & Families for SHCBP1L Gene

Gene Families for SHCBP1L Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for SHCBP1L Gene

InterPro:
Blocks:
  • Parallel beta-helix repeat
ProtoNet:

Suggested Antigen Peptide Sequences for SHCBP1L Gene

GenScript: Design optimal peptide antigens:
  • SHC SH2 domain-binding protein 1-like protein (SHP1L_HUMAN)
genes like me logo Genes that share domains with SHCBP1L: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SHCBP1L Gene

Function for SHCBP1L Gene

Molecular function for SHCBP1L Gene

UniProtKB/Swiss-Prot Function:
Testis-specific spindle-associated factor that plays a role in spermatogenesis. In association with HSPA2, participates in the maintenance of spindle integrity during meiosis in male germ cells.

Phenotypes From GWAS Catalog for SHCBP1L Gene

genes like me logo Genes that share phenotypes with SHCBP1L: view

Animal Models for SHCBP1L Gene

MGI Knock Outs for SHCBP1L:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SHCBP1L

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for SHCBP1L Gene

Localization for SHCBP1L Gene

Subcellular locations from UniProtKB/Swiss-Prot for SHCBP1L Gene

Cytoplasm, cytoskeleton, spindle. Note=Colocalizes with alpha tubulin during meiosis. Colocalizes with HSPA2 at spindle during the meiosis process. {ECO:0000250 UniProtKB:Q3TTP0}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SHCBP1L gene
Compartment Confidence
cytoskeleton 4
cytosol 2
plasma membrane 1
nucleus 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SHCBP1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005819 spindle IEA --
GO:0005856 cytoskeleton IEA --
GO:0072687 meiotic spindle IEA,ISS --
genes like me logo Genes that share ontologies with SHCBP1L: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SHCBP1L Gene

Pathways & Interactions for SHCBP1L Gene

genes like me logo Genes that share pathways with SHCBP1L: view

Pathways by source for SHCBP1L Gene

Interacting Proteins for SHCBP1L Gene

STRING Interaction Network Preview (showing top 2 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: Q9BZQ2-SHP1L_HUMAN ENSP00000356518 for SHCBP1L Gene via UniProtKB STRING IID

Gene Ontology (GO) - Biological Process for SHCBP1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007112 male meiosis cytokinesis IBA 21873635
GO:0007283 spermatogenesis IBA,ISS --
GO:0030154 cell differentiation IEA --
GO:2001252 positive regulation of chromosome organization IEA,ISS --
genes like me logo Genes that share ontologies with SHCBP1L: view

No data available for SIGNOR curated interactions for SHCBP1L Gene

Drugs & Compounds for SHCBP1L Gene

No Compound Related Data Available

Transcripts for SHCBP1L Gene

mRNA/cDNA for SHCBP1L Gene

2 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SHCBP1L

Alternative Splicing Database (ASD) splice patterns (SP) for SHCBP1L Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11
SP1: - -
SP2: - - -
SP3: -
SP4: -

Relevant External Links for SHCBP1L Gene

GeneLoc Exon Structure for
SHCBP1L

Expression for SHCBP1L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SHCBP1L Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SHCBP1L Gene

This gene is overexpressed in Testis (x52.5).

Protein differential expression in normal tissues from HIPED for SHCBP1L Gene

This gene is overexpressed in Testis (43.2) and Ovary (23.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SHCBP1L Gene



Protein tissue co-expression partners for SHCBP1L Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SHCBP1L

SOURCE GeneReport for Unigene cluster for SHCBP1L Gene:

Hs.497034

mRNA Expression by UniProt/SwissProt for SHCBP1L Gene:

Q9BZQ2-SHP1L_HUMAN
Tissue specificity: Expressed in spermatocytes and elongating spermatids inside the seminiferous tubules (at protein level) (PubMed:24557841). Testis-specific (PubMed:11318611, PubMed:24557841).
genes like me logo Genes that share expression patterns with SHCBP1L: view

No data available for Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for SHCBP1L Gene

Orthologs for SHCBP1L Gene

This gene was present in the common ancestor of animals.

Orthologs for SHCBP1L Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SHCBP1L 30 31
  • 99.39 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SHCBP1L 30 31
  • 92.04 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SHCBP1L 31
  • 91 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia SHCBP1L 30
  • 89.86 (n)
C16H1ORF14 31
  • 86 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Shcbp1l 30
  • 83 (n)
Mouse
(Mus musculus)
Mammalia Shcbp1l 30 17 31
  • 81.41 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia C1ORF14 31
  • 78 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 61 (a)
OneToMany
-- 31
  • 60 (a)
OneToMany
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2784 30
Fruit Fly
(Drosophila melanogaster)
Insecta nesd 31
  • 16 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 46 (a)
OneToOne
Species where no ortholog for SHCBP1L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for SHCBP1L Gene

ENSEMBL:
Gene Tree for SHCBP1L (if available)
TreeFam:
Gene Tree for SHCBP1L (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SHCBP1L: view image

Paralogs for SHCBP1L Gene

Paralogs for SHCBP1L Gene

genes like me logo Genes that share paralogs with SHCBP1L: view

Variants for SHCBP1L Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SHCBP1L Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs193921086 Uncertain Significance: Malignant tumor of prostate 182,939,371(-) G/T MISSENSE_VARIANT
rs12138972 - p.Val491Met

Additional dbSNP identifiers (rs#s) for SHCBP1L Gene

Structural Variations from Database of Genomic Variants (DGV) for SHCBP1L Gene

Variant ID Type Subtype PubMed ID
dgv477n100 CNV gain 25217958
nsv1113200 CNV deletion 24896259
nsv548358 CNV gain 21841781
nsv946534 CNV duplication 23825009
nsv998656 CNV gain 25217958

Variation tolerance for SHCBP1L Gene

Residual Variation Intolerance Score: 89.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.43; 71.32% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SHCBP1L Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SHCBP1L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SHCBP1L Gene

Disorders for SHCBP1L Gene

MalaCards: The human disease database

(1) MalaCards diseases for SHCBP1L Gene - From: DISEASES

Disorder Aliases PubMed IDs
myoclonic cerebellar dyssynergia
  • myoclonus and ataxia
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with SHCBP1L: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SHCBP1L Gene

Publications for SHCBP1L Gene

  1. SHCBP1L, a conserved protein in mammals, is predominantly expressed in male germ cells and maintains spindle stability during meiosis in testis. (PMID: 24557841) Liu M … Sha J (Molecular human reproduction 2014) 2 3 4
  2. Cloning and characterization of 13 novel transcripts and the human RGS8 gene from the 1q25 region encompassing the hereditary prostate cancer (HPC1) locus. (PMID: 11318611) Sood R … Carpten JD (Genomics 2001) 2 3 4
  3. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  4. Interactome of the negative regulator of nuclear import BRCA1-binding protein 2. (PMID: 25820252) Fatima S … Jans DA (Scientific reports 2015) 3
  5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3

Products for SHCBP1L Gene

Sources for SHCBP1L Gene