Format

Send to:

Choose Destination

SPDL1 spindle apparatus coiled-coil protein 1 [ Homo sapiens (human) ]

Gene ID: 54908, updated on 15-Jun-2019

Summary

Official Symbol
SPDL1provided by HGNC
Official Full Name
spindle apparatus coiled-coil protein 1provided by HGNC
Primary source
HGNC:HGNC:26010
See related
Ensembl:ENSG00000040275 MIM:616401
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
CCDC99
Summary
This gene encodes a coiled-coil domain-containing protein that functions in mitotic spindle formation and chromosome segregation. The encoded protein plays a role in coordinating microtubule attachment by promoting recruitment of dynein proteins, and in mitotic checkpoint signaling. [provided by RefSeq, Jul 2016]
Expression
Broad expression in testis (RPKM 14.1), lymph node (RPKM 4.5) and 21 other tissues See more
Orthologs

Genomic context

See SPDL1 in Genome Data Viewer
Location:
5q35.1
Exon count:
15
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (169583634..169604778)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (169010638..169031782)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene slit guidance ligand 3 Neighboring gene microRNA 585 Neighboring gene uncharacterized LOC105377714 Neighboring gene uncharacterized LOC105377715 Neighboring gene RNA, U6 small nuclear 477, pseudogene Neighboring gene dedicator of cytokinesis 2 Neighboring gene inhibitory synaptic factor family member 2B Neighboring gene microRNA 378e

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Cell Cycle, organism-specific biosystem (from REACTOME)
    Cell Cycle, organism-specific biosystem
    Cell Cycle
  • Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
    Cell Cycle, Mitotic, organism-specific biosystemThe replication of the genome and the subsequent segregation of chromosomes into daughter cells are controlled by a series of events collectively known as the cell cycle. DNA replication is carried o...
  • M Phase, organism-specific biosystem (from REACTOME)
    M Phase, organism-specific biosystemMitosis, or the M phase, involves nuclear division and cytokinesis, where two identical daughter cells are produced. Mitosis involves prophase, prometaphase, metaphase, anaphase, and telophase. Fin...
  • Mitotic Anaphase, organism-specific biosystem (from REACTOME)
    Mitotic Anaphase, organism-specific biosystemIn anaphase, the paired chromosomes separate at the centromeres, and move to the opposite sides of the cell. The movement of the chromosomes is facilitated by a combination of kinetochore movement al...
  • Mitotic Metaphase and Anaphase, organism-specific biosystem (from REACTOME)
    Mitotic Metaphase and Anaphase, organism-specific biosystemMetaphase is marked by the formation of the metaphase plate. The metaphase plate is formed when the spindle fibers align the chromosomes along the middle of the cell. Such an organization helps to ...
  • Mitotic Prometaphase, organism-specific biosystem (from REACTOME)
    Mitotic Prometaphase, organism-specific biosystemThe dissolution of the nuclear membrane marks the beginning of the prometaphase. Kinetochores are created when proteins attach to the centromeres. Microtubules then attach at the kinetochores, and th...
  • RHO GTPase Effectors, organism-specific biosystem (from REACTOME)
    RHO GTPase Effectors, organism-specific biosystemRHO GTPases regulate cell behaviour by activating a number of downstream effectors that regulate cytoskeletal organization, intracellular trafficking and transcription (reviewed by Sahai and Marshall...
  • RHO GTPases Activate Formins, organism-specific biosystem (from REACTOME)
    RHO GTPases Activate Formins, organism-specific biosystemFormins are a family of proteins with 15 members in mammals, organized into 8 subfamilies. Formins are involved in the regulation of actin cytoskeleton. Many but not all formin family members are act...
  • Resolution of Sister Chromatid Cohesion, organism-specific biosystem (from REACTOME)
    Resolution of Sister Chromatid Cohesion, organism-specific biosystemThe resolution of sister chromatids in mitotic prometaphase involves removal of cohesin complexes from chromosomal arms, with preservation of cohesion at centromeres (Losada et al. 1998, Hauf et al. ...
  • Separation of Sister Chromatids, organism-specific biosystem (from REACTOME)
    Separation of Sister Chromatids, organism-specific biosystemWhile sister chromatids resolve in prometaphase, separating along chromosomal arms, the cohesion of sister centromeres persists until anaphase. At the anaphase onset, the anaphase promoting complex/c...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
    Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ20364, FLJ40690

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
kinetochore binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
kinetochore binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cell division IEA
Inferred from Electronic Annotation
more info
 
establishment of mitotic spindle orientation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
establishment of mitotic spindle orientation IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitotic metaphase plate congression IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitotic metaphase plate congression IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitotic spindle assembly checkpoint IEA
Inferred from Electronic Annotation
more info
 
protein localization to kinetochore IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein localization to kinetochore IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
condensed chromosome outer kinetochore IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
condensed chromosome outer kinetochore IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
microtubule organizing center IEA
Inferred from Electronic Annotation
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
spindle pole IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
spindle pole IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
protein Spindly
Names
arsenite-related gene 1 protein
coiled-coil domain-containing protein 99
rhabdomyosarcoma antigen MU-RMS-40.4A
rrhabdomyosarcoma antigen protein MU-RMS-40.4A

NCBI Reference Sequences (RefSeq)

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

  1. NG_051238.1 RefSeqGene

    Range
    5001..26145
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001329639.2NP_001316568.1  protein Spindly isoform a

    Status: REVIEWED

    Description
    Transcript Variant: Variants 1 and 2 encode the same isoform (a).
    Source sequence(s)
    AC008680, BU616897
    Conserved Domains (1) summary
    cl03075
    Location:351417
    GrpE; nucleotide exchange factor GrpE
  2. NM_001329640.2NP_001316569.1  protein Spindly isoform a

    Status: REVIEWED

    Description
    Transcript Variant: Variants 1 and 2 encode the same isoform (a).
    Source sequence(s)
    AC008680, BU616897
    Conserved Domains (1) summary
    cl03075
    Location:351417
    GrpE; nucleotide exchange factor GrpE
  3. NM_001329641.2NP_001316570.1  protein Spindly isoform b

    Status: REVIEWED

    Description
    Transcript Variant: Variants 3 and 4 encode the same isoform (b).
    Source sequence(s)
    AC008680, BU616897
    Consensus CDS
    CCDS4370.1
    UniProtKB/Swiss-Prot
    Q96EA4
  4. NM_001329642.2NP_001316571.1  protein Spindly isoform c

    Status: REVIEWED

    Source sequence(s)
    AC008680, BU616897
    Conserved Domains (1) summary
    cl03075
    Location:280346
    GrpE; nucleotide exchange factor GrpE
  5. NM_001329643.2NP_001316572.1  protein Spindly isoform d

    Status: REVIEWED

    Source sequence(s)
    AC008680, BU616897
  6. NM_017785.5NP_060255.3  protein Spindly isoform b

    See identical proteins and their annotated locations for NP_060255.3

    Status: REVIEWED

    Description
    Transcript Variant: Variants 3 and 4 encode the same isoform (b).
    Source sequence(s)
    BC012568, BP295943, BU166207, CA417197, CD653505, DC379275
    Consensus CDS
    CCDS4370.1
    UniProtKB/Swiss-Prot
    Q96EA4
    Related
    ENSP00000265295.4, ENST00000265295.9
    Conserved Domains (1) summary
    cl03075
    Location:351417
    GrpE; nucleotide exchange factor GrpE

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    169583661..169604778
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011534587.2XP_011532889.1  protein Spindly isoform X1

    See identical proteins and their annotated locations for XP_011532889.1

    Conserved Domains (1) summary
    cl03075
    Location:351417
    GrpE; nucleotide exchange factor GrpE
  2. XM_011534588.2XP_011532890.1  protein Spindly isoform X1

    See identical proteins and their annotated locations for XP_011532890.1

    Conserved Domains (1) summary
    cl03075
    Location:351417
    GrpE; nucleotide exchange factor GrpE
  3. XM_011534589.2XP_011532891.1  protein Spindly isoform X1

    See identical proteins and their annotated locations for XP_011532891.1

    Conserved Domains (1) summary
    cl03075
    Location:351417
    GrpE; nucleotide exchange factor GrpE
Support Center