SHCBP1L (SHC binding and spindle associated 1 like)

Download as csv Download as pdf
Log in to bookmark this gene

Bookmark This Gene

Gene Gene information from NCBI Gene database.
Download as csvDownload as pdf
Entrez ID 81626
Gene name SHC binding and spindle associated 1 like
Gene symbol SHCBP1L
Synonyms (NCBI Gene)
C1orf14GE36
Chromosome 1
Chromosome location 1q25.3
Summary 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 e
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14 Show/Hide all (14)
Download as csvDownload as pdf
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183, 32814053
GO:0005737 Component Cytoplasm IEA
GO:0005819 Component Spindle IEA
GO:0005856 Component Cytoskeleton IEA
GO:0007112 Process Male meiosis cytokinesis IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Download as csvDownload as pdf
MIM HGNC e!Ensembl
619514 16788 ENSG00000157060
Protein Protein information from UniProt database.
Download as csvDownload as pdf
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BZQ2
Protein name Testicular spindle-associated protein SHCBP1L (SHC SH2 domain-binding protein 1-like protein)
Protein 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.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13229 Beta_helix 461 → 653 Right handed beta helix region Family
Tissue specificity TISSUE SPECIFICITY: Expressed in spermatocytes and elongating spermatids inside the seminiferous tubules (at protein level) (PubMed:24557841). Testis-specific (PubMed:11318611, PubMed:24557841). {ECO:0000269|PubMed:11318611, ECO:0000269|PubMed:24557841}.
Sequence 
MASGSKASVPADSFRTISPDRRGEKSASAVSGDTAAATTLKGTAIPVRSVVASPRPVKGK
AGRETARLRLQRLPAAQAEDTGEAAAAAAEEPLLPVPEDEEEAQPLPPVCVSRMRGMWRD
EKVSLYCDEVLQDCKAEDADEVMGKYLSEKLKLKDKWLGVWKTNPSVFFVKYEEASIPFV
GILVEVTCEPYQDSSSRFKVTVSVAEPFSSNIANIPRDLVDEILEELEHSVPLLEVYPVE
GQDTDIHVIALALEVVRFFYDFLWRDWDDEESCENYTALIEERINLWCDIQDGTIPGPIA
QRFKKTLEKYKNKRVELIEYQSNIKEDPSAAEAVECWKKYYEIVMLCGLLKMWEDLRLRV
HGPFFPRILRRRKGKREFGKTITHIVAKMMTTEMIKDLSSDTLLQQHGDLDLALDNCYSG
DTVIIFPGEYQAANLALLTDDIIIKGVGKREEIMITSEPSRDSFVVSKADNVKLMHLSLI
QQGTVDGIVVVESGHMTLENCILKCEGTGVCVLTGAALTITDSEITGAQGAGVELYPGSI
AILERNEIHHCNNLRTSNSSKSTLGGVNMKVLPAPKLKMTNNHIYSNKGYGVSILQPMEQ
FFIVAEEALNKRASSGDKKDDKMLFKVMQNLNLEMNNNKIEANVKGDIRIVTS
Sequence length 653
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Download as csvDownload as pdf
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)
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 Reference Evidence Score
Prostate cancer Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations

No strongly related genes found yet for SHCBP1L.

No additional diseases found yet through genes similar to SHCBP1L.