ROBO1
entrez
6091
canonical
uniprot
Q9Y6N7
canonical
ensembl
ENSG00000169855
resolver
ensp
ENSP00000406043
resolver
ensp
ENSP00000417992
resolver
ensp
ENSP00000420321
resolver
ensp
ENSP00000420637
resolver
genesymbol
ROBO1
resolver
genesymbol_syn
DUTT1
resolver
hgnc
HGNC:10249
resolver
uniprot
B2RXI1
resolver
uniprot
D3DU36
resolver
uniprot
E9PD49
resolver
uniprot
Q1RMC7
resolver
uniprot
Q1RMC8
resolver
uniprot
Q7Z300
resolver
uniprot
Q9BUS7
resolver
uniprot_entry
Q1RMC8_HUMAN
resolver
uniprot_entry
ROBO1_HUMAN
resolver
uniprot_sec
B2RXI1
resolver
uniprot_sec
D3DU36
resolver
uniprot_sec
E9PD49
resolver
uniprot_sec
Q1RMC7
resolver
uniprot_sec
Q7Z300
resolver
uniprot_sec
Q9BUS7
resolver
amino_acid_sequence
MKWKHVPFLVMISLLSLSPNHLFLAQLIPDPEDVERGNDHGTPIPTSDNDDNSLGYTGSRLRQEDFPPRIVEHPSDLIVSKGEPATLNCKAEGRPTPTIEWYKGGERVETDKDDPRSHRMLLPSGSLFFLRIVHGRKSRPDEGVYVCVARNYLGEAVSHNASLEVAILRDDFRQNPSDVMVAVGEPAVMECQPPRGHPEPTISWKKDGSPLDDKDERITIRGGKLMITYTRKSDAGKYVCVGTNMVGERESEVAELTVLERPSFVKRPSNLAVTVDDSAEFKCEARGDPVPTVRWRKDDGELPKSRYEIRDDHTLKIRKVTAGDMGSYTCVAENMVGKAEASATLTVQEPPHFVVKPRDQVVALGRTVTFQCEATGNPQPAIFWRREGSQNLLFSYQPPQSSSRFSVSQTGDLTITNVQRSDVGYYICQTLNVAGSIITKAYLEVTDVIADRPPPVIRQGPVNQTVAVDGTFVLSCVATGSPVPTILWRKDGVLVSTQDSRIKQLENGVLQIRYAKLGDTGRYTCIASTPSGEATWSAYIEVQEFGVPVQPPRPTDPNLIPSAPSKPEVTDVSRNTVTLSWQPNLNSGATPTSYIIEAFSHASGSSWQTVAENVKTETSAIKGLKPNAIYLFLVRAANAYGISDPSQISDPVKTQDVLPTSQGVDHKQVQRELGNAVLHLHNPTVLSSSSIEVHWTVDQQSQYIQGYKILYRPSGANHGESDWLVFEVRTPAKNSVVIPDLRKGVNYEIKARPFFNEFQGADSEIKFAKTLEEAPSAPPQGVTVSKNDGNGTAILVSWQPPPEDTQNGMVQEYKVWCLGNETRYHINKTVDGSTFSVVIPFLVPGIRYSVEVAASTGAGSGVKSEPQFIQLDAHGNPVSPEDQVSLAQQISDVVKQPAFIAGIGAACWIILMVFSIWLYRHRKKRNGLTSTYAGIRKVPSFTFTPTVTYQRGGEAVSSGGRPGLLNISEPAAQPWLADTWPNTGNNHNDCSISCCTAGNGNSDSNLTTYSRPADCIANYNNQLDNKQTNLMLPESTVYGDVDLSNKINEMKTFNSPNLKDGRFVNPSGQPTPYATTQLIQSNLSNNMNNGSGDSGEKHWKPLGQQKQEVAPVQYNIVEQNKLNKDYRANDTVPPTIPYNQSYDQNTGGSYNSSDRGSSTSGSQGHKKGARTPKVPKQGGMNWADLLPPPPAHPPPHSNSEEYNISVDESYDQEMPCPVPPARMYLQQDELEEEEDERGPTPPVRGAASSPAAVSYSHQSTATLTPSPQEELQPMLQDCPEETGHMQHQPDRRRQPVSPPPPPRPISPPHTYGYISGPLVSDMDTDAPEEEEDEADMEVAKMQTRRLLLRGLEQTPASSVGDLESSVTGSMINGWGSASEEDNISSGRSSVSSSDGSFFTDADFAQAVAAAAEYAGLKVARRQMQDAAGRRHFHASQCPRPTSPVSTDSNMSAAVMQKTRPAKKLKHQPGHLRRETYTDDLPPPPVPPPAIKSPTAQSKTQLEVRPVVVPKLPSMDARTDRSSDRKGSSYKGREVLDGRQVVDMRTNPGDPREAQEQQNDGKGRGNKAAKRDLPPAKTHLIQEDILPYCRPTFPTSNNPRDPSSSSSMSSRGSGSRQREQANVGRRNIAEMQVLGGYERGEDNNEELEETES
uniprot
proteins
disease_involvement
DISEASE: Neurooculorenal syndrome (NORS) [MIM:620305]: An autosomal recessive syndrome characterized by variable clinical features including congenital renal anomalies, neurodevelopmental defects, intellectual impairment, cardiac defects, and ocular anomalies. Some affected individuals present in utero with renal agenesis and structural brain abnormalities incompatible with life. {ECO:0000269|PubMed:29194579, ECO:0000269|PubMed:35227688}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Nystagmus 8, congenital, autosomal recessive (NYS8) [MIM:257400]: A form of nystagmus, a condition defined as conjugated, spontaneous and involuntary ocular oscillations that appear at birth or during the first three months of life. Other associated features may include mildly decreased visual acuity, strabismus, astigmatism, and occasionally head nodding. NYS8 patients manifest bilateral horizontal nystagmus in the absence of other neurologic signs or symptoms. Brain imaging is normal. {ECO:0000269|PubMed:35348658}. Note=The disease may be caused by variants affecting the gene represented in this entry.; DISEASE: Pituitary hormone deficiency, combined or isolated, 8 (CPHD8) [MIM:620303]: An autosomal dominant disorder characterized by short stature due to growth hormone deficiency, variable deficiencies of other pituitary hormones, and pituitary abnormalities. Many CPHD8 patients present with pituitary stalk interruption syndrome that is characterized by pituitary gland insufficiency, thin or discontinuous pituitary stalk, anterior pituitary hypoplasia, and ectopic positioning of the posterior pituitary gland. {ECO:0000269|PubMed:28402530, ECO:0000269|PubMed:31448886}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Receptor for SLIT1 and SLIT2 that mediates cellular responses to molecular guidance cues in cellular migration, including axonal navigation at the ventral midline of the neural tube and projection of axons to different regions during neuronal development (PubMed:10102268, PubMed:24560577). Interaction with the intracellular domain of FLRT3 mediates axon attraction towards cells expressing NTN1 (PubMed:24560577). In axon growth cones, the silencing of the attractive effect of NTN1 by SLIT2 may require the formation of a ROBO1-DCC complex (By similarity). Plays a role in the regulation of cell migration via its interaction with MYO9B; inhibits MYO9B-mediated stimulation of RHOA GTPase activity, and thereby leads to increased levels of active, GTP-bound RHOA (PubMed:26529257). May be required for lung development (By similarity). {ECO:0000250|UniProtKB:O89026, ECO:0000269|PubMed:10102268, ECO:0000269|PubMed:24560577, ECO:0000269|PubMed:26529257, ECO:0000305}.
uniprot
proteins
mass_dalton
180930
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated. May be deubiquitinated by USP33. {ECO:0000250|UniProtKB:O89026}.
uniprot
proteins
protein_family
Immunoglobulin superfamily
uniprot
proteins
protein_family
ROBO family
uniprot
proteins
pubmed
10102268
uniprot
proteins
pubmed
10892742
uniprot
proteins
pubmed
11404413
uniprot
proteins
pubmed
12082532
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17848514
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24560577
uniprot
proteins
pubmed
24673457
uniprot
proteins
pubmed
26529257
uniprot
proteins
pubmed
28402530
uniprot
proteins
pubmed
29194579
uniprot
proteins
pubmed
31448886
uniprot
proteins
pubmed
35227688
uniprot
proteins
pubmed
35348658
uniprot
proteins
pubmed
9458045
uniprot
proteins
pubmed
9608531
uniprot
proteins
pubmed
9796701
uniprot
proteins
sequence_length
1651
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:24560577}; Single-pass type I membrane protein {ECO:0000305}. Cell projection, axon {ECO:0000250|UniProtKB:O89026}. Endoplasmic reticulum-Golgi intermediate compartment membrane {ECO:0000250|UniProtKB:O55005}; Single-pass membrane protein {ECO:0000250|UniProtKB:O55005}. Note=Detected at growth cones in thalamus neurons. Detected at growth cones in thalamus neurons (By similarity). PRRG4 prevents cell surface location and both colocalize in the Endoplasmic reticulum/Golgi adjacent to the cell nucleus (By similarity). {ECO:0000250|UniProtKB:O55005, ECO:0000250|UniProtKB:O89026}.
uniprot
proteins
transmembrane_region
TRANSMEM 898..918; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins