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Protein Page:
KIAA1279 (human)
p Phosphorylation
ac Acetylation
me Methylation
m1 Mono-methylation
m2 Di-methylation
m3 Tri-methylation
ub Ubiquitination
sm Sumoylation
ne Neddylation
gl O-GlcNAc
ga O-GalNAc
pa Palmitoylation
ad Adenylylation
sn S-Nitrosylation
ca Caspase cleavage
sc Succinylation

Overview
KIAA1279 Required for organization of axonal microtubules, and axonal outgrowth and maintenance during peripheral and central nervous system development. Regulates mitochondrial transport by modulating KIF1B motor activity. Defects in KIAA1279 are the cause of Goldberg-Shprintzen megacolon syndrome (GOSHS). GOSHS is characterized by microcephaly, mental retardation and facial dysmorphism, as well as phenotypes related to Hirschsprung disease syndrome. Belongs to the KIF1-binding protein family. Note: This description may include information from UniProtKB.
Protein type: Unknown function
Cellular Component: cytoskeleton; mitochondrion
Molecular Function: protein binding; kinesin binding
Biological Process: nervous system development; cell differentiation; mitochondrial transport
Reference #:  Q96EK5 (UniProtKB)
Alt. Names/Synonyms: DKFZp586B0923; KBP; KIAA1279; KIF1-binding protein; TTC20
Gene Symbols: KIAA1279
Molecular weight: 71,814 Da
Basal Isoelectric point: 5.34  Predict pI for various phosphorylation states
Select Structure to View Below

KIAA1279

Protein Structure Not Found.


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Modification Sites and Domains Show Modification Legend
Click here to view phosphorylation modifications only

Modification Sites in Parent Protein, Orthologs, and Isoforms Show Modification Legend
 

Show Multiple Sequence Alignment


 SS 

SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.


 MS 

MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.


       human

 
0 2 Y37-p KEPYKSKySARALLE
0 1 S165 AQAYLESSEALYNQY
0 1 N170 ESSEALYNQYMKEVG
0 1 Y172 SEALYNQYMKEVGsP
0 1 S178-p QYMKEVGsPPLDPTE
0 1 S357-p KELDEEEsIRKKAVQ
0 1 R494 LKVAIADRLRDPDsH
0 1 S500-p DRLRDPDsHIVKKIN
0 2 K547-ub LRPAMLAkFRVARLY
0 1 K556 RVARLYGKIITADPk
0 1 K563-ac KIITADPkkELENLA
0 1 K564-ac IITADPkkELENLAT
0 2 K564-ub IITADPkkELENLAT
0 1 K610 MVSLLPTKMERFRTK
  mouse

 
Y37 KEPYKSKYGARALLE
S161-p ARTYLESsEALYsQy
S166-p ESsEALYsQyMKEIG
Y168-p sEALYsQyMKEIGSP
S174 QyMKEIGSPPLDPTE
S353 KELDEEESVRKRAVQ
K490-ub LKVAIADkLRDPDSH
S496 DkLRDPDSHIVKKIN
K543-ub LRPAMLAkFRVARLY
K552-ub RVARLYGkIITADPK
K559 kIITADPKkELENLA
K560 IITADPKKELENLAT
K560-ub IITADPKkELENLAT
K606-ub MVSLLPTkMERFRAK
  rat

 
Y37 KEPYKSKYGARALLE
S161 ARTYLESSEALYNQY
N166 ESSEALYNQYMKEIG
Y168 SEALYNQYMKEIGSP
S174 QYMKEIGSPPLDPTE
S353 KELDEEESVRKRAVQ
K490 LKVAIADKLREPDSH
S496 DKLREPDSHTVKKIN
K543 LRPAMLAKFRVARLY
K552 RVARLYGKIITADPK
K559 KIITADPKKELENLA
K560 IITADPKKELENLAT
K560 IITADPKKELENLAT
K606 MVSLLPTKMERFRAK
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