Seroatlas · Human Serome Atlas

ROBO1

Roundabout homolog 1

Also known as: DUTT1, FLJ21882, ROBO1_HUMAN, SAX3

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

Protein identityUniProt · HPA

UniProt accession: Q9Y6N7
Gene: ROBO1
Ensembl: ENSG00000169855
Chromosome: 3
Canonical length: 1651 aa
Protein class: Predicted intracellular proteins, Predicted membrane proteins
Subcellular location: Plasma membrane,Primary cilium
Quaternary structure: Homodimer

OverviewNCBI Gene

Bilateral symmetric nervous systems have special midline structures that establish a partition between the two mirror image halves. Some axons project toward and across the midline in response to long-range chemoattractants emanating from the midline. The product of this gene is a member of the immunoglobulin gene superfamily and encodes an integral membrane protein that functions in axon guidance and neuronal precursor cell migration. This receptor is activated by SLIT-family proteins, resulting in a repulsive effect on glioma cell guidance in the developing brain. A related gene is located at an adjacent region on chromosome 3. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

Canonical amino-acid sequenceUniProt

1651 residues, UniProt reviewed canonical sequence.

>Q9Y6N7|ROBO1
     1  MKWKHVPFLV MISLLSLSPN HLFLAQLIPD PEDVERGNDH GTPIPTSDND DNSLGYTGSR
    61  LRQEDFPPRI VEHPSDLIVS KGEPATLNCK AEGRPTPTIE WYKGGERVET DKDDPRSHRM
   121  LLPSGSLFFL RIVHGRKSRP DEGVYVCVAR NYLGEAVSHN ASLEVAILRD DFRQNPSDVM
   181  VAVGEPAVME CQPPRGHPEP TISWKKDGSP LDDKDERITI RGGKLMITYT RKSDAGKYVC
   241  VGTNMVGERE SEVAELTVLE RPSFVKRPSN LAVTVDDSAE FKCEARGDPV PTVRWRKDDG
   301  ELPKSRYEIR DDHTLKIRKV TAGDMGSYTC VAENMVGKAE ASATLTVQEP PHFVVKPRDQ
   361  VVALGRTVTF QCEATGNPQP AIFWRREGSQ NLLFSYQPPQ SSSRFSVSQT GDLTITNVQR
   421  SDVGYYICQT LNVAGSIITK AYLEVTDVIA DRPPPVIRQG PVNQTVAVDG TFVLSCVATG
   481  SPVPTILWRK DGVLVSTQDS RIKQLENGVL QIRYAKLGDT GRYTCIASTP SGEATWSAYI
   541  EVQEFGVPVQ PPRPTDPNLI PSAPSKPEVT DVSRNTVTLS WQPNLNSGAT PTSYIIEAFS
   601  HASGSSWQTV AENVKTETSA IKGLKPNAIY LFLVRAANAY GISDPSQISD PVKTQDVLPT
   661  SQGVDHKQVQ RELGNAVLHL HNPTVLSSSS IEVHWTVDQQ SQYIQGYKIL YRPSGANHGE
   721  SDWLVFEVRT PAKNSVVIPD LRKGVNYEIK ARPFFNEFQG ADSEIKFAKT LEEAPSAPPQ
   781  GVTVSKNDGN GTAILVSWQP PPEDTQNGMV QEYKVWCLGN ETRYHINKTV DGSTFSVVIP
   841  FLVPGIRYSV EVAASTGAGS GVKSEPQFIQ LDAHGNPVSP EDQVSLAQQI SDVVKQPAFI
   901  AGIGAACWII LMVFSIWLYR HRKKRNGLTS TYAGIRKVPS FTFTPTVTYQ RGGEAVSSGG
   961  RPGLLNISEP AAQPWLADTW PNTGNNHNDC SISCCTAGNG NSDSNLTTYS RPADCIANYN
  1021  NQLDNKQTNL MLPESTVYGD VDLSNKINEM KTFNSPNLKD GRFVNPSGQP TPYATTQLIQ
  1081  SNLSNNMNNG SGDSGEKHWK PLGQQKQEVA PVQYNIVEQN KLNKDYRAND TVPPTIPYNQ
  1141  SYDQNTGGSY NSSDRGSSTS GSQGHKKGAR TPKVPKQGGM NWADLLPPPP AHPPPHSNSE
  1201  EYNISVDESY DQEMPCPVPP ARMYLQQDEL EEEEDERGPT PPVRGAASSP AAVSYSHQST
  1261  ATLTPSPQEE LQPMLQDCPE ETGHMQHQPD RRRQPVSPPP PPRPISPPHT YGYISGPLVS
  1321  DMDTDAPEEE EDEADMEVAK MQTRRLLLRG LEQTPASSVG DLESSVTGSM INGWGSASEE
  1381  DNISSGRSSV SSSDGSFFTD ADFAQAVAAA AEYAGLKVAR RQMQDAAGRR HFHASQCPRP
  1441  TSPVSTDSNM SAAVMQKTRP AKKLKHQPGH LRRETYTDDL PPPPVPPPAI KSPTAQSKTQ
  1501  LEVRPVVVPK LPSMDARTDR SSDRKGSSYK GREVLDGRQV VDMRTNPGDP REAQEQQNDG
  1561  KGRGNKAAKR DLPPAKTHLI QEDILPYCRP TFPTSNNPRD PSSSSSMSSR GSGSRQREQA
  1621  NVGRRNIAEM QVLGGYERGE DNNEELEETE S

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ROBO1 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: 1
Mean surface accessibility (rSASA): 0.5
Highest tissue expression: 20 nTPM

Expression across tissuesHPA

Tissue

skin: 20 nTPM
cerebral cortex: 18 nTPM
tonsil: 17 nTPM
ovary: 14 nTPM
urinary bladder: 13 nTPM
cervix: 13 nTPM

Single-cell type

lactotrophs: 5,761 nCPM
brain inhibitory neurons: 2,256 nCPM
adrenal medulla cells: 1,649 nCPM
other brain neurons: 1,644 nCPM
thyrotrophs: 1,198 nCPM
brain excitatory neurons: 1,017 nCPM

Immune cell

naive CD8 T-cell: 0.6 nTPM
memory B-cell: 0.2 nTPM
myeloid DC: 0.1 nTPM
non-classical monocyte: 0.1 nTPM
basophil: 0 nTPM
classical monocyte: 0 nTPM

Brain region

midbrain: 52 nTPM
thalamus: 50 nTPM
basal ganglia: 45 nTPM
amygdala: 43 nTPM
white matter: 42 nTPM
hypothalamus: 39 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ROBO1.

Disease | AllUniProt

Conditions ROBO1 is implicated in, by any mechanism.

Neurooculorenal syndrome (NORS) MIM:620305
Nystagmus 8, congenital, autosomal recessive (NYS8) MIM:257400
Pituitary hormone deficiency, combined or isolated, 8 (CPHD8) MIM:620303

Disease | GeneticClinVar

50 pathogenic / likely-pathogenic of 745 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Neurooculorenal syndrome
Congenital anomaly of kidney and urinary tract
Pituitary hormone deficiency, combined or isolated, 8
ROBO1-related disorder
Bilateral renal agenesis

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): 0.6
gnomAD pLI: 0
gnomAD missense Z: 1.07
DepMap mean gene effect: 0.02
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of ROBO1 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 ROBO1 as an antibody target. Whether an autoantibody or antibody against ROBO1 could matter depends on whether native ROBO1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ROBO1 is annotated at the cell surface, where native ROBO1 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 ROBO1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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