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Aliases for SHCBP1L Gene

Aliases for SHCBP1L Gene

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

External Ids for SHCBP1L Gene

Previous HGNC Symbols for SHCBP1L Gene

  • C1orf14

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 Prostate Cancer Susceptibility. An important paralog of this gene is SHCBP1.

UniProtKB/Swiss-Prot 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SHCBP1L Gene

Genomics for SHCBP1L Gene

Regulatory Elements for SHCBP1L Gene

Enhancers for SHCBP1L Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F183277 1.5 FANTOM5 Ensembl ENCODE 10.6 -327.3 -327317 6.8 BMI1 ZNF2 RAD21 SCRT2 ZNF143 FOS CREM ZNF654 USF2 CEBPB LOC100271717 SHCBP1L LAMC2 NCF2 ARPC5 LAMC1 RPS3AP8 NMNAT2
GH01F183233 1.3 Ensembl ENCODE 10.7 -282.0 -281973 3.1 SIN3A FEZF1 ZNF2 YY1 GTF3C2 ZNF121 GLIS2 FOS ZNF263 REST LAMC2 HMGN1P4 SHCBP1L LOC100271717 RNU6-41P RPS3AP8
GH01F183069 1.3 Ensembl ENCODE 10.2 -118.0 -118017 4.1 HDGF PKNOX1 MLX ARID4B SIN3A FEZF1 ZNF2 MIER2 ZNF488 TSHZ1 ENSG00000224468 HMGN1P4 LAMC1 LOC100271717 SHCBP1L
GH01F183239 1.1 Ensembl ENCODE 10.7 -289.2 -289174 5.8 KLF1 ZNF792 MAX FEZF1 ZNF101 ZNF335 HIC1 POLR2A ZNF366 PRDM10 LAMC2 LOC100271717 SHCBP1L RNU6-41P SMG7 RPS3AP8
GH01F183228 0.9 Ensembl ENCODE 10.9 -274.7 -274676 0.4 CTCF ZNF654 MAX TRIM22 EP300 ZNF2 RAD21 STAT3 SMC3 RCOR1 LAMC2 LOC100271717 SHCBP1L RNU6-41P RPS3AP8
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SHCBP1L on UCSC Golden Path with GeneCards custom track

Genomic Location for SHCBP1L Gene

Chromosome:
1
Start:
182,899,865 bp from pter
End:
182,953,525 bp from pter
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; Positions=Several; 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

Suggested Antigen Peptide Sequences for SHCBP1L Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BZQ2

UniProtKB/Swiss-Prot:

SHP1L_HUMAN :
  • Contains 4 PbH1 repeats.
Similarity:
  • Contains 4 PbH1 repeats.
genes like me logo Genes that share domains with SHCBP1L: view

No data available for Gene Families 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.
genes like me logo Genes that share phenotypes with SHCBP1L: view

Animal Models for SHCBP1L Gene

MGI Knock Outs for SHCBP1L:

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 3
plasma membrane 2
golgi apparatus 2
nucleus 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

Pathways & Interactions for SHCBP1L Gene

SuperPathways for SHCBP1L Gene

No Data Available

Interacting Proteins for SHCBP1L Gene

Selected Interacting proteins: Q9BZQ2-SHP1L_HUMAN for SHCBP1L Gene via IID

Symbol External ID(s) Details
BRAP

Gene Ontology (GO) - Biological Process for SHCBP1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007283 spermatogenesis 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 Pathways by source and SIGNOR curated interactions for SHCBP1L Gene

Transcripts for SHCBP1L Gene

Unigene Clusters for SHCBP1L Gene

SHC SH2-domain binding protein 1-like:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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
ECgene alternative splicing isoforms 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

NURSA nuclear receptor signaling pathways regulating expression of SHCBP1L Gene:

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

Primer Products

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 34 35
  • 99.39 (n)
dog
(Canis familiaris)
Mammalia SHCBP1L 34 35
  • 92.04 (n)
oppossum
(Monodelphis domestica)
Mammalia SHCBP1L 35
  • 91 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SHCBP1L 34
  • 89.86 (n)
C16H1ORF14 35
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Shcbp1l 34
  • 83 (n)
mouse
(Mus musculus)
Mammalia Shcbp1l 34 16 35
  • 81.41 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia C1ORF14 35
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 61 (a)
OneToMany
-- 35
  • 60 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2784 34
fruit fly
(Drosophila melanogaster)
Insecta nesd 35
  • 16 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 46 (a)
OneToOne
Species where no ortholog for SHCBP1L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

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 from dbSNP and Humsavar for SHCBP1L Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs193921086 Uncertain significance 182,939,371(-) TGGAA(A/C)AATAC reference, missense
rs10158828 -- 182,936,390(+) ttggc(C/T)tccca intron-variant
rs10158852 -- 182,936,758(+) aataa(A/G)aaaaa intron-variant
rs10159028 -- 182,938,138(+) GTTTC(A/G)CTCTT intron-variant
rs10465477 -- 182,914,785(+) agtaa(A/T)cattt intron-variant

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

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

Relevant External Links 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: GeneCards

Disorder Aliases PubMed IDs
prostate cancer susceptibility
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SHCBP1L

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SHCBP1L
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. (Mol. Hum. Reprod. 2014) 2 3 4 64
  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 J.D. (Genomics 2001) 2 3 4 64
  3. Interactome of the negative regulator of nuclear import BRCA1-binding protein 2. (PMID: 25820252) Fatima S. … Jans D.A. (Sci. Rep. 2015) 3 64
  4. A genome-wide RNAi screen identifies multiple synthetic lethal interactions with the Ras oncogene. (PMID: 19490893) Luo J. … Elledge S.J. (Cell 2009) 3 64
  5. Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis. (PMID: 18220336) Cantin G.T. … Yates J.R. III (J. Proteome Res. 2008) 4 64

Products for SHCBP1L Gene

Sources for SHCBP1L Gene

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