SHCBP1L SHC binding and spindle associated 1 like [Homo sapiens (human)] - Gene

Summary

Official Symbol: SHCBP1Lprovided by HGNC
Official Full Name: SHC binding and spindle associated 1 likeprovided by HGNC
Primary source: HGNC:HGNC:16788
See related: Ensembl:ENSG00000157060 MIM:619514; AllianceGenome:HGNC:16788
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GE36; C1orf14
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 encompassing a prostate cancer susceptibility locus. [provided by RefSeq, Sep 2016]
Expression: Restricted expression toward testis (RPKM 73.5) See more
Orthologs: mouse all
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Genomic context

Location:: 1q25.3

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (182899865..182953166, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (182259032..182312340, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (182869000..182922301, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SHCBP1L is a conserved mammalian protein predominantly expressed in male germ cells and it maintains spindle stability during meiosis in testis.
Title: SHCBP1L, a conserved protein in mammals, is predominantly expressed in male germ cells and maintains spindle stability during meiosis in testis.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH92759 (e-PCR)
- UniSTS:92492

D1S2623 (e-PCR), detects polymorphism
- UniSTS:14063

SHGC-79817 (e-PCR)
- UniSTS:101108

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in male meiosis cytokinesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of chromosome organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in spermatogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in spermatogenesis	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
is_active_in meiotic spindle	IBA Inferred from Biological aspect of Ancestor more info
located_in meiotic spindle	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: testicular spindle-associated protein SHCBP1L

Names: SHC SH2 domain-binding protein 1-like protein; SHC SH2-domain binding protein 1-like

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_051596.1 RefSeqGene

Range

5360..58661

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001345928.2 → NP_001332857.1 testicular spindle-associated protein SHCBP1L isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate exon in the 5' UTR and 5' coding region which results in the use of an alternate start codon compared to variant 1.

Source sequence(s)

AF288397, AL450304, AL662837, BC026084

UniProtKB/Swiss-Prot

Q9BZQ2

Related

ENST00000483655.5
NM_030933.4 → NP_112195.2 testicular spindle-associated protein SHCBP1L isoform 1

See identical proteins and their annotated locations for NP_112195.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AF288398, AL450304, AL662837, BC050305

Consensus CDS

CCDS30955.1

UniProtKB/Swiss-Prot

Q4G195, Q9BZQ2, Q9BZQ3, Q9H2B6

Related

ENSP00000356518.3, ENST00000367547.8

Conserved Domains (1) summary

pfam13229
Location:486 → 653

Beta_helix; Right handed beta helix region