SEMA4A
entrez
64218
canonical
uniprot
Q9H3S1
canonical
ensembl
ENSG00000196189
resolver
ensp
ENSP00000347117
resolver
ensp
ENSP00000357265
resolver
ensp
ENSP00000357267
resolver
ensp
ENSP00000357268
resolver
ensp
ENSP00000542528
resolver
ensp
ENSP00000691669
resolver
genesymbol
SEMA4A
resolver
genesymbol_syn
SEMAB
resolver
genesymbol_syn
SEMB
resolver
hgnc
HGNC:10729
resolver
uniprot
B2RDH8
resolver
uniprot
B3KR76
resolver
uniprot
B4DKS5
resolver
uniprot
Q5TCI5
resolver
uniprot
Q5TCJ6
resolver
uniprot
Q8WUA9
resolver
uniprot_entry
B4DKS5_HUMAN
resolver
uniprot_entry
SEM4A_HUMAN
resolver
uniprot_sec
B2RDH8
resolver
uniprot_sec
B3KR76
resolver
uniprot_sec
Q5TCI5
resolver
uniprot_sec
Q5TCJ6
resolver
uniprot_sec
Q8WUA9
resolver
amino_acid_sequence
MALPALGLDPWSLLGLFLFQLLQLLLPTTTAGGGGQGPMPRVRYYAGDERRALSFFHQKGLQDFDTLLLSGDGNTLYVGAREAILALDIQDPGVPRLKNMIPWPASDRKKSECAFKKKSNETQCFNFIRVLVSYNVTHLYTCGTFAFSPACTFIELQDSYLLPISEDKVMEGKGQSPFDPAHKHTAVLVDGMLYSGTMNNFLGSEPILMRTLGSQPVLKTDNFLRWLHHDASFVAAIPSTQVVYFFFEETASEFDFFERLHTSRVARVCKNDVGGEKLLQKKWTTFLKAQLLCTQPGQLPFNVIRHAVLLPADSPTAPHIYAVFTSQWQVGGTRSSAVCAFSLLDIERVFKGKYKELNKETSRWTTYRGPETNPRPGSCSVGPSSDKALTFMKDHFLMDEQVVGTPLLVKSGVEYTRLAVETAQGLDGHSHLVMYLGTTTGSLHKAVVSGDSSAHLVEEIQLFPDPEPVRNLQLAPTQGAVFVGFSGGVWRVPRANCSVYESCVDCVLARDPHCAWDPESRTCCLLSAPNLNSWKQDMERGNPEWACASGPMSRSLRPQSRPQIIKEVLAVPNSILELPCPHLSALASYYWSHGPAAVPEASSTVYNGSLLLIVQDGVGGLYQCWATENGFSYPVISYWVDSQDQTLALDPELAGIPREHVKVPLTRVSGGAALAAQQSYWPHFVTVTVLFALVLSGALIILVASPLRALRARGKVQGCETLRPGEKAPLSREQHLQSPKECRTSASDVDADNNCLGTEVA
uniprot
proteins
disease_involvement
DISEASE: Retinitis pigmentosa 35 (RP35) [MIM:610282]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269|PubMed:16199541, ECO:0000269|PubMed:22956603}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Cone-rod dystrophy 10 (CORD10) [MIM:610283]: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. {ECO:0000269|PubMed:16199541}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Cell surface receptor for PLXNB1, PLXNB2, PLXNB3 and PLXND1 that plays an important role in cell-cell signaling (By similarity). Regulates glutamatergic and GABAergic synapse development (By similarity). Promotes the development of inhibitory synapses in a PLXNB1-dependent manner and promotes the development of excitatory synapses in a PLXNB2-dependent manner (By similarity). Plays a role in priming antigen-specific T-cells, promotes differentiation of Th1 T-helper cells, and thereby contributes to adaptive immunity (By similarity). Promotes phosphorylation of TIMD2 (By similarity). Inhibits angiogenesis (By similarity). Promotes axon growth cone collapse (By similarity). Inhibits axonal extension by providing local signals to specify territories inaccessible for growing axons (By similarity). {ECO:0000250|UniProtKB:Q62178}.
uniprot
proteins
mass_dalton
83574
uniprot
proteins
protein_family
Semaphorin family
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16199541
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
22956603
uniprot
proteins
pubmed
28805479
uniprot
proteins
sequence_length
761
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:22956603}; Single-pass type I membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 684..704; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins