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Protein

Protein Spindly

Gene

SPDL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Required for the localization of dynein and dynactin to the mitotic kintochore. Dynein is believed to control the initial lateral interaction between the kinetochore and spindle microtubules and to facilitate the subsequent formation of end-on kinetochore-microtubule attachments mediated by the NDC80 complex. Also required for correct spindle orientation. Does not appear to be required for the removal of spindle assembly checkpoint (SAC) proteins from the kinetochore upon bipolar spindle attachment.UniRule annotation2 Publications

GO - Molecular functioni

  • enzyme binding Source: UniProtKB
  • kinetochore binding Source: UniProtKB

GO - Biological processi

  • cell division Source: UniProtKB-KW
  • establishment of mitotic spindle orientation Source: UniProtKB
  • mitotic metaphase plate congression Source: UniProtKB
  • protein localization to kinetochore Source: UniProtKB
  • sister chromatid cohesion Source: Reactome
  • spindle checkpoint Source: InterPro
Complete GO annotation...

Keywords - Biological processi

Cell cycle, Cell division, Mitosis

Enzyme and pathway databases

ReactomeiR-HSA-2467813. Separation of Sister Chromatids.
R-HSA-2500257. Resolution of Sister Chromatid Cohesion.
R-HSA-5663220. RHO GTPases Activate Formins.
R-HSA-68877. Mitotic Prometaphase.

Names & Taxonomyi

Protein namesi
Recommended name:
Protein SpindlyUniRule annotation
Short name:
hSpindly
Alternative name(s):
Arsenite-related gene 1 protein
Coiled-coil domain-containing protein 99UniRule annotation
Rhabdomyosarcoma antigen MU-RMS-40.4A
Spindle apparatus coiled-coil domain-containing protein 1UniRule annotation
Gene namesi
Name:SPDL1UniRule annotation
Synonyms:CCDC99UniRule annotation
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:26010. SPDL1.

Subcellular locationi

GO - Cellular componenti

  • condensed chromosome outer kinetochore Source: UniProtKB
  • cytosol Source: Reactome
  • microtubule organizing center Source: UniProtKB-SubCell
  • nucleus Source: UniProtKB
  • spindle pole Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Centromere, Chromosome, Cytoplasm, Cytoskeleton, Kinetochore, Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA144596466.

Polymorphism and mutation databases

BioMutaiSPDL1.
DMDMi296452913.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 605605Protein SpindlyPRO_0000274516Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei1 – 11N-acetylmethionineCombined sources
Modified residuei513 – 5131Phosphoserine; in variant His-508Combined sources
Modified residuei515 – 5151Phosphoserine; in variant His-508Combined sources
Modified residuei555 – 5551PhosphoserineBy similarity

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ96EA4.
MaxQBiQ96EA4.
PaxDbiQ96EA4.
PeptideAtlasiQ96EA4.
PRIDEiQ96EA4.

PTM databases

iPTMnetiQ96EA4.
PhosphoSiteiQ96EA4.

Expressioni

Gene expression databases

BgeeiENSG00000040275.
CleanExiHS_CCDC99.
ExpressionAtlasiQ96EA4. baseline and differential.
GenevisibleiQ96EA4. HS.

Organism-specific databases

HPAiHPA044700.
HPA048146.

Interactioni

Subunit structurei

Interacts with KNTC1 and ZW10. These interactions appear weak and may be transient or indirect.UniRule annotation1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
CA8P352193EBI-715381,EBI-718700
DYX1C1Q8WXU23EBI-715381,EBI-2946907
PPP1R18Q6NYC83EBI-715381,EBI-2557469
RTP5Q14D333EBI-715381,EBI-10217913
TRAF4Q9BUZ43EBI-715381,EBI-3650647
USP15Q9Y4E83EBI-715381,EBI-1043104

GO - Molecular functioni

  • enzyme binding Source: UniProtKB
  • kinetochore binding Source: UniProtKB

Protein-protein interaction databases

BioGridi120253. 34 interactions.
DIPiDIP-47296N.
IntActiQ96EA4. 11 interactions.
MINTiMINT-1404668.
STRINGi9606.ENSP00000265295.

Structurei

3D structure databases

ProteinModelPortaliQ96EA4.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili2 – 442441UniRule annotationAdd
BLAST

Sequence similaritiesi

Belongs to the Spindly family.UniRule annotation

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IDXF. Eukaryota.
ENOG4110EUG. LUCA.
GeneTreeiENSGT00510000047951.
HOGENOMiHOG000070239.
InParanoidiQ96EA4.
OMAiCECEAIK.
OrthoDBiEOG091G08GL.
PhylomeDBiQ96EA4.
TreeFamiTF332470.

Family and domain databases

HAMAPiMF_03041. SPDLY. 1 hit.
InterProiIPR028593. SPDLY_chordates.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96EA4-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MEADIITNLR CRLKEAEEER LKAAQYGLQL VESQNELQNQ LDKCRNEMMT
60 70 80 90 100
MTESYEQEKY TLQREVELKS RMLESLSCEC EAIKQQQKMH LEKLEEQLSR
110 120 130 140 150
SHGQEVNELK TKIEKLKVEL DEARLSEKQL KHQVDHQKEL LSCKSEELRV
160 170 180 190 200
MSERVQESMS SEMLALQIEL TEMESMKTTL KEEVNELQYR QEQLELLITN
210 220 230 240 250
LMRQVDRLKE EKEEREKEAV SYYNALEKAR VANQDLQVQL DQALQQALDP
260 270 280 290 300
NSKGNSLFAE VEDRRAAMER QLISMKVKYQ SLKKQNVFNR EQMQRMKLQI
310 320 330 340 350
ATLLQMKGSQ TEFEQQERLL AMLEQKNGEI KHLLGEIRNL EKFKNLYDSM
360 370 380 390 400
ESKPSVDSGT LEDNTYYTDL LQMKLDNLNK EIESTKGELS IQRMKALFES
410 420 430 440 450
QRALDIERKL FANERCLQLS ESENMKLRAK LDELKLKYEP EETVEVPVLK
460 470 480 490 500
KRREVLPVDI TTAKDACVNN SALGGEVYRL PPQKEETQSC PNSLEDNNLQ
510 520 530 540 550
LEKSVSIYTP VVSLSPHKNL PVDMQLKKEK KCVKLIGVPA DAEALSERSG
560 570 580 590 600
NTPNSPRLAA ESKLQTEVKE GKETSSKLEK ETCKKLHPIL YVSSKSTPET

QCPQQ
Length:605
Mass (Da):70,172
Last modified:May 18, 2010 - v2
Checksum:i1F8D38C9261D6605
GO
Isoform 2 (identifier: Q96EA4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     178-276: Missing.

Show »
Length:506
Mass (Da):58,538
Checksum:iE86000023F500E0F
GO
Isoform 3 (identifier: Q96EA4-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     105-182: Missing.

Note: No experimental confirmation available.
Show »
Length:527
Mass (Da):61,015
Checksum:i42E07810F59E1570
GO

Sequence cautioni

The sequence AAG01408 differs from that shown. Reason: Frameshift at position 604. Curated
The sequence BAA91119 differs from that shown. Reason: Frameshift at position 412. Curated
The sequence BAB85022 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti89 – 891M → I in AAG01408 (Ref. 1) Curated
Sequence conflicti107 – 1071N → H in BAB85022 (PubMed:14702039).Curated
Sequence conflicti329 – 3291E → G in BAB85022 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti508 – 5081Y → H.Combined sources4 Publications
Corresponds to variant rs3797713 [ dbSNP | Ensembl ].
VAR_030307
Natural varianti586 – 5861L → S.4 Publications
Corresponds to variant rs3777084 [ dbSNP | Ensembl ].
VAR_030308

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei105 – 18278Missing in isoform 3. 1 PublicationVSP_054244Add
BLAST
Alternative sequencei178 – 27699Missing in isoform 2. 1 PublicationVSP_022777Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF269167 mRNA. Translation: AAG01408.1. Frameshift.
AY517557 mRNA. Translation: AAT44530.1.
AK074227 mRNA. Translation: BAB85022.1. Different initiation.
AK000371 mRNA. Translation: BAA91119.1. Frameshift.
AK304623 mRNA. Translation: BAG65405.1.
AC008680 Genomic DNA. No translation available.
BC012568 mRNA. Translation: AAH12568.1.
CCDSiCCDS4370.1. [Q96EA4-1]
RefSeqiNP_060255.3. NM_017785.4. [Q96EA4-1]
UniGeneiHs.368710.
Hs.710145.

Genome annotation databases

EnsembliENST00000265295; ENSP00000265295; ENSG00000040275. [Q96EA4-1]
GeneIDi54908.
KEGGihsa:54908.
UCSCiuc003mae.5. human. [Q96EA4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF269167 mRNA. Translation: AAG01408.1. Frameshift.
AY517557 mRNA. Translation: AAT44530.1.
AK074227 mRNA. Translation: BAB85022.1. Different initiation.
AK000371 mRNA. Translation: BAA91119.1. Frameshift.
AK304623 mRNA. Translation: BAG65405.1.
AC008680 Genomic DNA. No translation available.
BC012568 mRNA. Translation: AAH12568.1.
CCDSiCCDS4370.1. [Q96EA4-1]
RefSeqiNP_060255.3. NM_017785.4. [Q96EA4-1]
UniGeneiHs.368710.
Hs.710145.

3D structure databases

ProteinModelPortaliQ96EA4.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120253. 34 interactions.
DIPiDIP-47296N.
IntActiQ96EA4. 11 interactions.
MINTiMINT-1404668.
STRINGi9606.ENSP00000265295.

PTM databases

iPTMnetiQ96EA4.
PhosphoSiteiQ96EA4.

Polymorphism and mutation databases

BioMutaiSPDL1.
DMDMi296452913.

Proteomic databases

EPDiQ96EA4.
MaxQBiQ96EA4.
PaxDbiQ96EA4.
PeptideAtlasiQ96EA4.
PRIDEiQ96EA4.

Protocols and materials databases

DNASUi54908.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000265295; ENSP00000265295; ENSG00000040275. [Q96EA4-1]
GeneIDi54908.
KEGGihsa:54908.
UCSCiuc003mae.5. human. [Q96EA4-1]

Organism-specific databases

CTDi54908.
GeneCardsiSPDL1.
H-InvDBHIX0005398.
HGNCiHGNC:26010. SPDL1.
HPAiHPA044700.
HPA048146.
MIMi616401. gene.
neXtProtiNX_Q96EA4.
PharmGKBiPA144596466.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IDXF. Eukaryota.
ENOG4110EUG. LUCA.
GeneTreeiENSGT00510000047951.
HOGENOMiHOG000070239.
InParanoidiQ96EA4.
OMAiCECEAIK.
OrthoDBiEOG091G08GL.
PhylomeDBiQ96EA4.
TreeFamiTF332470.

Enzyme and pathway databases

ReactomeiR-HSA-2467813. Separation of Sister Chromatids.
R-HSA-2500257. Resolution of Sister Chromatid Cohesion.
R-HSA-5663220. RHO GTPases Activate Formins.
R-HSA-68877. Mitotic Prometaphase.

Miscellaneous databases

GenomeRNAii54908.
PROiQ96EA4.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000040275.
CleanExiHS_CCDC99.
ExpressionAtlasiQ96EA4. baseline and differential.
GenevisibleiQ96EA4. HS.

Family and domain databases

HAMAPiMF_03041. SPDLY. 1 hit.
InterProiIPR028593. SPDLY_chordates.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSPDLY_HUMAN
AccessioniPrimary (citable) accession number: Q96EA4
Secondary accession number(s): B4E393
, C9JS47, Q8TEC8, Q9HD44, Q9NX97
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 6, 2007
Last sequence update: May 18, 2010
Last modified: September 7, 2016
This is version 113 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.