Seroatlas · Human Serome Atlas

SPDL1

Protein Spindly

Also known as: CCDC99, FLJ20364, hSpindly, SPDLY_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q96EA4
Gene: SPDL1
Ensembl: ENSG00000040275
Chromosome: 5
Canonical length: 605 aa
Protein class: Predicted intracellular proteins
Subcellular location: Cytosol

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

605 residues, UniProt reviewed canonical sequence.

>Q96EA4|SPDL1
     1  MEADIITNLR CRLKEAEEER LKAAQYGLQL VESQNELQNQ LDKCRNEMMT MTESYEQEKY
    61  TLQREVELKS RMLESLSCEC EAIKQQQKMH LEKLEEQLSR SHGQEVNELK TKIEKLKVEL
   121  DEARLSEKQL KHQVDHQKEL LSCKSEELRV MSERVQESMS SEMLALQIEL TEMESMKTTL
   181  KEEVNELQYR QEQLELLITN LMRQVDRLKE EKEEREKEAV SYYNALEKAR VANQDLQVQL
   241  DQALQQALDP NSKGNSLFAE VEDRRAAMER QLISMKVKYQ SLKKQNVFNR EQMQRMKLQI
   301  ATLLQMKGSQ TEFEQQERLL AMLEQKNGEI KHLLGEIRNL EKFKNLYDSM ESKPSVDSGT
   361  LEDNTYYTDL LQMKLDNLNK EIESTKGELS IQRMKALFES QRALDIERKL FANERCLQLS
   421  ESENMKLRAK LDELKLKYEP EETVEVPVLK KRREVLPVDI TTAKDACVNN SALGGEVYRL
   481  PPQKEETQSC PNSLEDNNLQ LEKSVSIYTP VVSLSPHKNL PVDMQLKKEK KCVKLIGVPA
   541  DAEALSERSG NTPNSPRLAA ESKLQTEVKE GKETSSKLEK ETCKKLHPIL YVSSKSTPET
   601  QCPQQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SPDL1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.53
Highest tissue expression: 33 nTPM

Expression across tissuesHPA

Tissue

testis: 33 nTPM
thymus: 20 nTPM
lymph node: 14 nTPM
tonsil: 13 nTPM
spinal cord: 12 nTPM
bone marrow: 10 nTPM

Single-cell type

early primary spermatocytes: 133 nCPM
late primary spermatocytes: 108 nCPM
differentiating spermatogonia: 92 nCPM
oocytes: 88 nCPM
monocyte progenitors: 69 nCPM
megakaryocyte progenitors: 59 nCPM

Immune cell

plasmacytoid DC: 20 nTPM
naive B-cell: 13 nTPM
memory B-cell: 11 nTPM
naive CD4 T-cell: 11 nTPM
naive CD8 T-cell: 9.1 nTPM
MAIT T-cell: 8.9 nTPM

Brain region

spinal cord: 11 nTPM
white matter: 11 nTPM
medulla oblongata: 8.9 nTPM
cerebellum: 8.8 nTPM
basal ganglia: 8.5 nTPM
pons: 8.1 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SPDL1.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 108 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Neonatal death
Severe primary microcephaly

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 1.09
gnomAD pLI: 0
gnomAD missense Z: -0.24
DepMap mean gene effect: -1.46
DepMap dependency class: pan

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

Spindly/BICDR Dynein Motor Adapter
Protein Spindly, chordates

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of SPDL1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SPDL1 as an antibody target. Whether an autoantibody or antibody against SPDL1 could matter depends on whether native SPDL1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SPDL1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label SPDL1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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