SEMA7A semaphorin 7A (JohnMiltonHagen blood group) [Homo sapiens (human)] - Gene

Summary

Official Symbol: SEMA7Aprovided by HGNC
Official Full Name: semaphorin 7A (JohnMiltonHagen blood group)provided by HGNC
Primary source: HGNC:HGNC:10741
See related: Ensembl:ENSG00000138623 MIM:607961; AllianceGenome:HGNC:10741
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: JMH; CD108; SEMAL; CDw108; PFIC11; SEMAK1; H-Sema-L; H-SEMA-K1
Summary: 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]
Expression: Broad expression in testis (RPKM 25.1), spleen (RPKM 22.9) and 14 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q24.1

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (74409289..74433958, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (72277013..72301682, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (74701630..74726299, complement)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Semaphorin 7A promotes endothelial permeability and inflammation via plexin C1 and integrin beta1 in Kawasaki disease.
Title: Semaphorin 7A promotes endothelial permeability and inflammation via plexin C1 and integrin β1 in Kawasaki disease.
Differential expression of Semaphorin-7A /CD163-positive macrophages in large artery and cardiogenic stroke.
Title: Differential expression of Semaphorin-7A /CD163-positive macrophages in large artery and cardiogenic stroke.
Semaphorin 7a aggravates TGF-beta1-induced airway EMT through the FAK/ERK1/2 signaling pathway in asthma.
Title: Semaphorin 7a aggravates TGF-β1-induced airway EMT through the FAK/ERK1/2 signaling pathway in asthma.
Serum Sema7A is increased in patients with acute aortic dissection.
Title: Serum Sema7A is increased in patients with acute aortic dissection.
A Comprehensive Prognostic Analysis of Tumor-Related Blood Group Antigens in Pan-Cancers Suggests That SEMA7A as a Novel Biomarker in Kidney Renal Clear Cell Carcinoma.
Title: A Comprehensive Prognostic Analysis of Tumor-Related Blood Group Antigens in Pan-Cancers Suggests That SEMA7A as a Novel Biomarker in Kidney Renal Clear Cell Carcinoma.
Anoikis resistance in mammary epithelial cells is mediated by semaphorin 7a.
Title: Anoikis resistance in mammary epithelial cells is mediated by semaphorin 7a.
The Expression of Semaphorin 7A in Human Periapical Lesions.
Title: The Expression of Semaphorin 7A in Human Periapical Lesions.
Sema7A is crucial for resolution of severe inflammation.
Title: Sema7A is crucial for resolution of severe inflammation.
Sema7A, a brain immune regulator, regulates seizure activity in PTZ-kindled epileptic rats.
Title: Sema7A, a brain immune regulator, regulates seizure activity in PTZ-kindled epileptic rats.
Hormonal Regulation of Semaphorin 7a in ER(+) Breast Cancer Drives Therapeutic Resistance.
Title: Hormonal Regulation of Semaphorin 7a in ER(+) Breast Cancer Drives Therapeutic Resistance.

Submit: New GeneRIF Correction See all GeneRIFs (43)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Cholestasis, progressive familial intrahepatic, 11 MedGen: C5676985 OMIM: 619874 GeneReviews: Not available	not available
John Milton Hagen blood group system MedGen: C3553633 OMIM: 614745 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Nef	nef	Both HIV-1 Nef and Vpu downregulate the cell surface expression of semaphorin 7A, GPI membrane anchor (SEMA7A, CD108)	PubMed
Vpu	vpu	Both HIV-1 Nef and Vpu downregulate the cell surface expression of semaphorin 7A, GPI membrane anchor (SEMA7A, CD108)	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SEMA7A_817 (e-PCR)
- UniSTS:277704

SEMA7A_V139 (e-PCR)
- UniSTS:277704

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables chemorepellent activity	IBA Inferred from Biological aspect of Ancestor more info
enables integrin binding	IBA Inferred from Biological aspect of Ancestor more info
NOT enables neuropilin binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables semaphorin receptor binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in axon extension	IEA Inferred from Electronic Annotation more info
involved_in axon guidance	IBA Inferred from Biological aspect of Ancestor more info
involved_in immune response	TAS Traceable Author Statement more info	PubMed
involved_in inflammatory response	IEA Inferred from Electronic Annotation more info
involved_in integrin-mediated signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in integrin-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative chemotaxis	IBA Inferred from Biological aspect of Ancestor more info
involved_in neural crest cell migration	IBA Inferred from Biological aspect of Ancestor more info
involved_in olfactory lobe development	IEA Inferred from Electronic Annotation more info
involved_in osteoblast differentiation	HDA more info	PubMed
involved_in positive regulation of ERK1 and ERK2 cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of axon extension	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell migration	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of macrophage cytokine production	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of inflammatory response	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of inflammatory response	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of synapse maturation	IEA Inferred from Electronic Annotation more info
involved_in semaphorin-plexin signaling pathway	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in GABA-ergic synapse	IEA Inferred from Electronic Annotation more info
colocalizes_with collagen-containing extracellular matrix	HDA more info	PubMed
is_active_in external side of plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in external side of plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in membrane	HDA more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in presynapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: semaphorin-7A

Names: JMH blood group antigen; John Milton Hagen blood group H-Sema K1; john-Milton-Hargen human blood group Ag; sema K1; sema L; sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group); sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, 7A; semaphorin 7A (John Milton Hagen blood group); semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group); semaphorin-K1; semaphorin-L

NCBI Reference Sequences (RefSeq)

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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

NG_011733.1 RefSeqGene

Range

5001..29670

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_818

mRNA and Protein(s)

NM_001146029.3 → NP_001139501.1 semaphorin-7A isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1. The encoded isoform (2) may undergo proteolytic processing similar to isoform 1.

Source sequence(s)

AC090826, AI972833, AK001895, AK293280, BF792612, DA815098

Consensus CDS

CCDS53959.1

UniProtKB/TrEMBL

A0A7S9FTL9

Related

ENSP00000438966.2, ENST00000543145.6

Conserved Domains (4) summary

cd11243
Location:72 → 477

Sema_7A; The Sema domain, a protein interacting module, of semaphorin 7A (Sema7A, also called CD108)

pfam01437
Location:479 → 506

PSI; Plexin repeat

cd00096
Location:548 → 552

Ig; Ig strand B [structural motif]

cl11960
Location:535 → 605

Ig; Immunoglobulin domain
NM_001146030.3 → NP_001139502.1 semaphorin-7A isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (3) has a shorter N-terminus and lacks a predicted signal peptide compared to isoform 1.

Source sequence(s)

AC090826, AI972833, AK001895, AK293280, BF792612, DA136330, DA232032

Consensus CDS

CCDS53958.1

UniProtKB/TrEMBL

F5GYX3

Related

ENSP00000441493.1, ENST00000542748.6

Conserved Domains (4) summary

pfam01437
Location:328 → 355

PSI; Plexin repeat

cd00096
Location:397 → 401

Ig; Ig strand B [structural motif]

cl11960
Location:384 → 454

Ig; Immunoglobulin domain

cl15693
Location:1 → 326

Sema; The Sema domain, a protein interacting module, of semaphorins and plexins
NM_003612.5 → NP_003603.1 semaphorin-7A isoform 1 preproprotein

See identical proteins and their annotated locations for NP_003603.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AC090826, AI972833, AK001895, AK312257, BF792612

Consensus CDS

CCDS10262.1

UniProtKB/Swiss-Prot

B4DDP7, F5H1S0, O75326, Q1XE81, Q1XE82, Q1XE83, Q1XE84, Q3MIY5

UniProtKB/TrEMBL

A0A7S9FTL9

Related

ENSP00000261918.4, ENST00000261918.9

Conserved Domains (2) summary

cd11243
Location:72 → 491

Sema_7A; The Sema domain, a protein interacting module, of semaphorin 7A (Sema7A, also called CD108)

pfam01437
Location:493 → 527

PSI; Plexin repeat