Seroatlas · Human Serome Atlas

SPECC1L

Cytospin-A

Also known as: CYTSA, CYTSA_HUMAN, KIAA0376

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

Protein identityUniProt · HPA

UniProt accession: Q69YQ0
Gene: SPECC1L
Ensembl: ENSG00000100014
Chromosome: 22
Canonical length: 1117 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Actin filaments

OverviewNCBI Gene

This gene encodes a coiled-coil domain containing protein. The encoded protein may play a critical role in actin-cytoskeletal reorganization during facial morphogenesis. Mutations in this gene are a cause of oblique facial clefting-1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A read-through transcript composed of SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1-like) and the downstream ADORA2A (adenosine A2a receptor) gene sequence has been identified, but it is thought to be non-coding. [provided by RefSeq, Jun 2013]

Canonical amino-acid sequenceUniProt

1117 residues, UniProt reviewed canonical sequence.

>Q69YQ0|SPECC1L
     1  MKKASRSVGS VPKVSAISKT QTAEKIKPEN SSSASTGGKL VKPGTAASLS KTKSSDDLLA
    61  GMAGGVTVTN GVKGKKSTCP SAAPSASAPA MTTVENKSKI STGTASSTKR STSTGNKESS
   121  STRERLRERT RLNQSKKLPS AGQGANDMAL AKRSRSRTAT ECDVRMSKSK SDNQISDRAA
   181  LEAKVKDLLT LAKTKDVEIL HLRNELRDMR AQLGINEDHS EGDEKSEKET IMAHQPTDVE
   241  STLLQLQEQN TAIREELNQL KNENRMLKDR LNALGFSLEQ RLDNSEKLFG YQSLSPEITP
   301  GNQSDGGGTL TSSVEGSAPG SVEDLLSQDE NTLMDHQHSN SMDNLDSECS EVYQPLTSSD
   361  DALDAPSSSE SEGIPSIERS RKGSSGNASE VSVACLTERI HQMEENQHST SEELQATLQE
   421  LADLQQITQE LNSENERLGE EKVILMESLC QQSDKLEHFS RQIEYFRSLL DEHHISYVID
   481  EDVKSGRYME LEQRYMDLAE NARFEREQLL GVQQHLSNTL KMAEQDNKEA QEMIGALKER
   541  SHHMERIIES EQKGKAALAA TLEEYKATVA SDQIEMNRLK AQLENEKQKV AELYSIHNSG
   601  DKSDIQDLLE SVRLDKEKAE TLASSLQEDL AHTRNDANRL QDAIAKVEDE YRAFQEEAKK
   661  QIEDLNMTLE KLRSDLDEKE TERSDMKETI FELEDEVEQH RAVKLHDNLI ISDLENTVKK
   721  LQDQKHDMER EIKTLHRRLR EESAEWRQFQ ADLQTAVVIA NDIKSEAQEE IGDLKRRLHE
   781  AQEKNEKLTK ELEEIKSRKQ EEERGRVYNY MNAVERDLAA LRQGMGLSRR SSTSSEPTPT
   841  VKTLIKSFDS ASQVPNPAAA AIPRTPLSPS PMKTPPAAAV SPMQRHSISG PISTSKPLTA
   901  LSDKRPNYGE IPVQEHLLRT SSASRPASLP RVPAMESAKT LSVSRRSSEE VKRDISAQEG
   961  ASPASLMAMG TTSPQLSLSS SPTASVTPTT RSRIREERKD PLSALAREYG GSKRNALLKW
  1021  CQKKTEGYQN IDITNFSSSW NDGLAFCALL HTYLPAHIPY QELNSQDKRR NFMLAFQAAE
  1081  SVGIKSTLDI NEMVRTERPD WQNVMLYVTA IYKYFET

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SPECC1L 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: Cell surface
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.57
Highest tissue expression: 30 nTPM

Expression across tissuesHPA

Tissue

testis: 30 nTPM
thyroid gland: 23 nTPM
blood vessel: 20 nTPM
prostate: 19 nTPM
cerebellum: 19 nTPM
smooth muscle: 18 nTPM

Single-cell type

bergmann glia: 264 nCPM
choroid plexus epithelial cells: 244 nCPM
microglia: 209 nCPM
brain excitatory neurons: 145 nCPM
oligodendrocyte progenitor cells: 124 nCPM
astrocytes: 122 nCPM

Immune cell

eosinophil: 4.9 nTPM
basophil: 4 nTPM
plasmacytoid DC: 3.8 nTPM
intermediate monocyte: 3.6 nTPM
gdT-cell: 3.4 nTPM
neutrophil: 3.3 nTPM

Brain region

cerebellum: 88 nTPM
pons: 56 nTPM
choroid plexus: 55 nTPM
medulla oblongata: 53 nTPM
midbrain: 53 nTPM
hypothalamus: 52 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SPECC1L.

Disease | AllUniProt

Conditions SPECC1L is implicated in, by any mechanism.

Facial clefting, oblique, 1 (OBLFC1) MIM:600251
Teebi hypertelorism syndrome 1 (TBHS1) MIM:145420

Disease | GeneticClinVar

14 pathogenic / likely-pathogenic of 416 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Teebi hypertelorism syndrome
Teebi hypertelorism syndrome 1
Autosomal dominant Opitz G/BBB syndrome
Oculomaxillofacial dysostosis
SPECC1L-related syndrome

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): 0.33
gnomAD pLI: 0.86
gnomAD missense Z: 1.6
DepMap mean gene effect: -0.2
DepMap dependency class: selective

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

beta-catenin binding

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SPECC1L as an antibody target. Whether an autoantibody or antibody against SPECC1L could matter depends on whether native SPECC1L is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SPECC1L is annotated at the cell surface, where native SPECC1L is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label SPECC1L as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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