SEMA7A
Semaphorin-7A
Also known as: CD108, H-Sema-L, SEM7A_HUMAN, SEMAL
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O75326
- Gene
- SEMA7A
- Ensembl
- ENSG00000138623
- Chromosome
- 15
- Canonical length
- 666 aa
- Protein class
- Blood group antigen proteins, CD markers, Disease related genes, Human disease related genes, Plasma proteins, Predicted membrane proteins
- Subcellular location
- Vesicles
OverviewNCBI Gene
This gene encodes a member of the semaphorin family of proteins. The encoded preproprotein is proteolytically processed to generate the mature glycosylphosphatidylinositol (GPI)-anchored membrane glycoprotein. The encoded protein is found on activated lymphocytes and erythrocytes and may be involved in immunomodulatory and neuronal processes. The encoded protein carries the John Milton Hagen (JMH) blood group antigens. Mutations in this gene may be associated with reduced bone mineral density (BMD). Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]
Canonical amino-acid sequenceUniProt
666 residues, UniProt reviewed canonical sequence.
>O75326|SEMA7A
1 MTPPPPGRAA PSAPRARVPG PPARLGLPLR LRLLLLLWAA AASAQGHLRS GPRIFAVWKG
61 HVGQDRVDFG QTEPHTVLFH EPGSSSVWVG GRGKVYLFDF PEGKNASVRT VNIGSTKGSC
121 LDKRDCENYI TLLERRSEGL LACGTNARHP SCWNLVNGTV VPLGEMRGYA PFSPDENSLV
181 LFEGDEVYST IRKQEYNGKI PRFRRIRGES ELYTSDTVMQ NPQFIKATIV HQDQAYDDKI
241 YYFFREDNPD KNPEAPLNVS RVAQLCRGDQ GGESSLSVSK WNTFLKAMLV CSDAATNKNF
301 NRLQDVFLLP DPSGQWRDTR VYGVFSNPWN YSAVCVYSLG DIDKVFRTSS LKGYHSSLPN
361 PRPGKCLPDQ QPIPTETFQV ADRHPEVAQR VEPMGPLKTP LFHSKYHYQK VAVHRMQASH
421 GETFHVLYLT TDRGTIHKVV EPGEQEHSFA FNIMEIQPFR RAAAIQTMSL DAERRKLYVS
481 SQWEVSQVPL DLCEVYGGGC HGCLMSRDPY CGWDQGRCIS IYSSERSVLQ SINPAEPHKE
541 CPNPKPDKAP LQKVSLAPNS RYYLSCPMES RHATYSWRHK ENVEQSCEPG HQSPNCILFI
601 ENLTAQQYGH YFCEAQEGSY FREAQHWQLL PEDGIMAEHL LGHACALAAS LWLGVLPTLT
661 LGLLVHLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SEMA7A 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)
- 0.3
- Highest tissue expression
- 62 nTPM
Expression across tissuesHPA
Tissue
- spinal cord: 62 nTPM
- spleen: 55 nTPM
- cerebellum: 36 nTPM
- retina: 32 nTPM
- testis: 27 nTPM
- cerebral cortex: 22 nTPM
Single-cell type
- oligodendrocytes: 18 nCPM
- brain excitatory neurons: 12 nCPM
- tuft cells: 12 nCPM
- microglia: 11 nCPM
- megakaryocytes: 6.2 nCPM
- oligodendrocyte progenitor cells: 4.7 nCPM
Immune cell
- eosinophil: 3.1 nTPM
- basophil: 1.8 nTPM
- plasmacytoid DC: 0.5 nTPM
- memory B-cell: 0.4 nTPM
- NK-cell: 0.2 nTPM
- classical monocyte: 0 nTPM
Brain region
- pons: 51 nTPM
- white matter: 46 nTPM
- cerebellum: 43 nTPM
- thalamus: 39 nTPM
- medulla oblongata: 39 nTPM
- cerebral cortex: 33 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SEMA7A.
Disease | AllUniProt
Conditions SEMA7A is implicated in, by any mechanism.
- Cholestasis, progressive familial intrahepatic, 11 (PFIC11) MIM:619874
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 124 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Cholestasis, progressive familial intrahepatic, 11
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)
- 0.44
- gnomAD pLI
- 0.18
- gnomAD missense Z
- 1.84
- DepMap mean gene effect
- 0.06
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- axon extension
- axon guidance
- immune response
- inflammatory response
- integrin-mediated signaling pathway
- negative chemotaxis
- neural crest cell migration
- osteoblast differentiation
- positive regulation of axon extension
- positive regulation of cell migration
- positive regulation of ERK1 and ERK2 cascade
- positive regulation of macrophage cytokine production
- regulation of inflammatory response
- regulation of synapse maturation
- semaphorin-plexin signaling pathway
- olfactory lobe development
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of SEMA7A 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 SEMA7A as an antibody target. Whether an autoantibody or antibody against SEMA7A could matter depends on whether native SEMA7A is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SEMA7A is annotated at the cell surface, where native SEMA7A 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 SEMA7A as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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