KIAA1549 - KIAA1549 Gene

Also Known as RP86

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 57670

About KIAA1549

Cytogenetic location: 7q34 Genomic coordinates (GRCh38): 7:138,831,381-138,981,389 (from NCBI)

This gene has 2 transcripts (splice variants), 93 orthologues, 1 paralogue and is associated with 95 phenotypes. Broad expression in brain (RPKM 3.0), kidney (RPKM 2.6) and 21 other tissues.

Summary

The protein encoded by this gene belongs to the UPF0606 family. This gene has been found to be fused to the BRAF oncogene in many cases of pilocytic astrocytoma. The fusion results from 2Mb tandem duplications at 7q34. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012]

KIAA1549 Products (2)

mRNA	Protein	Name
NM_001164665.2	NP_001158137.1	UPF0606 protein KIAA1549 isoform 2
NM_020910.3	NP_065961.2	UPF0606 protein KIAA1549 isoform 1

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	37207277	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

KIAA1549 Protein Structure

DUF3827

0
300
600
900
1200
1500
1800
1950 a.a.

Protein Preferred Names	Protein Names
UPF0606 protein KIAA1549

KIAA1549 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	KIAA1549	Q9HCM3	CACNA1C	Homo sapiens	Q13936	Anti Bait CoIP	37207277

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Retinitis Pigmentosa 86	RP86 Retinitis Pigmentosa, Type 86
Pilomyxoid Astrocytoma
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy
Pilocytic Astrocytoma	Juvenile Pilocytic Astrocytoma Grade I Astrocytic Tumor Piloid Astrocytoma
Dysembryoplastic Neuroepithelial Tumor	Dysembryoplastic Neuroepithelial Tumour Dysembryoplastic Neuroepithelial Neoplasm Dnet
Childhood Pilocytic Astrocytoma	Pediatric Pilocytic Astrocytoma
Pilocytic Astrocytoma Of Cerebellum	Cerebellar Pilocytic Astrocytoma
Cerebellar Astrocytoma	Astrocytoma Of Cerebellum
Childhood Astrocytic Tumor	Juvenile Astrocytoma Pediatric Astrocytoma
Cerebellum Cancer	Cerebellar Neoplasms Cerebellar Cancer Malignant Tumor Of Cerebellum Malignant Neoplasm Of Cerebellum
Childhood Oligodendroglioma	Pediatric Oligodendroglioma Oligodendroglioma, Childhood
Spinal Cord Astrocytoma	Astrocytoma Of Spinal Cord Spinal Astrocytoma
Adult Oligodendroglioma	Adult Brain Oligodendroglioma Grade Ii Adult Oligodendroglial Tumor Oligodendroglioma, Adult
Anaplastic Pleomorphic Xanthoastrocytoma
Pleomorphic Xanthoastrocytoma	Pxa Pleomorphic Xantho-Astrocytoma
Low Grade Glioma	Benign Glioma
Juvenile Pilocytic Astrocytoma
Diffuse Astrocytoma	Diffuse Astrocytoma, Low Grade Who Grade Ii Astrocytoma Fibrillary Astrocytoma Gemistocytic Astrocytoma Low-Grade Diffuse Astrocytoma Protoplasmic Astrocytoma
Central Nervous System Benign Neoplasm	Benign Neoplasm Of The Central Nervous System
Chordoid Glioma	Chordoid Glioma Of The Third Ventricle
Fibrillary Astrocytoma	Fibrillary Astrocytic Tumors Diffuse Astrocytoma Gemistocytic Astrocytoma Protoplasmic Astrocytoma
Thalamic Neoplasm	Malignant Neoplasm Of Thalamus Malignant Tumor Of Thalamus Tumor Of Thalamus
Spinal Cord Glioma	Glial Tumor Of Spinal Cord Glial Neoplasm Spinal Cord Glioma Of Spinal Cord
Papillary Craniopharyngioma	Craniopharyngioma, Papillary Papillary Rathke'S Pouch Tumor Craniopharyngioma Papillary
Spinal Cord Disease	Spinal Cord Diseases Myelopathy Bone Marrow Diseases
Brain Sarcoma	Sarcoma Of The Brain
Simple Partial Epilepsy	Epilepsy, Simple Partial
Benign Ependymoma	Ependymoma Epithelial Ependymoma Who Grade Ii Ependymal Tumor Myxopapillary Ependymoma
Subependymal Glioma	Mixed Subependymoma-Ependymoma Subependymal Astrocytoma Who Grade I Ependymal Tumor Glioma, Subependymal
Gliofibroma
Spinal Cancer	Spinal Cord Neoplasm Spinal Cord Neoplasms Spinal Neoplasms Intraspinal Tumor Malignant Tumor Of The Spinal Cord Spinal Cord Cancer Spinal Neoplasm Tumor Of The Spinal Cord Tumors Spinal Cord Intraspinal Neoplasm Spinal Cord--Cancer
Supratentorial Ependymoma
Optic Nerve Glioma	Glioma Of The Optic Nerve
Gangliocytoma	Ganglioneuroma Gangliocytoma Of Central Nervous System
Adult Astrocytic Tumour	Adult Astrocytoma Adult Astrocytic Tumors
Optic Nerve Neoplasm	Optic Nerve Neoplasms Neoplasm Of Optic Nerve Tumor Of Second Cranial Nerve Tumour Of Optic Nerve
Astroblastoma	Cerebral Astroblastoma
High Grade Ependymoma	Ependymal Neoplasm Ependymal Tumors Malignant Ependymoma Ependymal Tumor Anaplastic Ependymoma Experimental Organism Malignant Ependymoma Ependymoma Of Brain
Subependymal Giant Cell Astrocytoma	Sega Astrocytoma Subependymal Giant Cell Subependymal Giant-Cell Astrocytoma
Obstructive Hydrocephalus
Adult Brain Stem Glioma	Adult Brainstem Neuroglial Tumor
Cerebral Ventricle Cancer	Cerebral Ventricle Neoplasms Cerebral Ventricle Neoplasm Intraventricular Tumor Of Brain
Spinal Cord Ependymoma	Ependymal Neoplasm Of The Spinal Cord Spinal Ependymoma Ependymoma Of Spinal Cord
Central Neurocytoma	Neurocytoma Neurolipocytoma Neurocytoma Central
Cerebrum Cancer	Cerebral Cancer Neoplasm Of Cerebrum Tumor Of Cerebrum Malignant Neoplasm Of Cerebrum
Supratentorial Cancer	Supratentorial Neoplasms Brain Neoplasm, Supratentorial Malignant Supratentorial Tumor Cancer, Supratentorial
Myxopapillary Ependymoma	Ependymoma Myxopapillary
Gliomatosis Cerebri	Astrocytosis Cerebri Neoplasms, Neuroepithelial
Epidural Spinal Canal Neoplasm	Extradural Tumor Epidural Neoplasms Epidural Neoplasm
Rela Fusion-Positive Ependymoma	Supratentorial C11orf95-Rela Fused Ependymoma C11orf95 Fusion-Positive Supratentorial Ependymoma
Histone Mutated Tumor	Histone Mutated Tumour
Anaplastic Oligodendroglioma
Diffuse Midline Glioma, H3 K27m-Mutant	Diffuse Intrinsic Pontine Glioma Dipg Infiltrative Brainstem Glioma
Atypical Teratoid Rhabdoid Tumor	Rhabdoid Tumor Predisposition Syndrome Rtps Atypical Teratoid/Rhabdoid Tumor Rhabdoid Predisposition Syndrome Familial Posterior Fossa Brain Tumor Of Infancy Familial Rhabdoid Tumor At/Rt Atypical Teratoid Rhabdoid Tumour Atypical Teratoid/Rhabdoid Tumour Rhabdoid Tumor Of The Cns Rhabdoid Tumour Of The Cns Familial Posterior Fossa Brain Tumor Syndrome Hereditary Swi/Snf Deficiency Syndrome Atrt
Neurofibromatosis, Type I	Von Recklinghausen Disease Neurofibromatosis 1 Neurofibromatosis, Type 1 NF1 Neurofibromatosis, Peripheral Type Neurofibromatosis Type I Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion Familial Spinal Neurofibromatosis Fsnf Peripheral Neurofibromatosis Von Recklinghausen'S Neurofibromatosis Von Recklinghausen Disease Due To Nf1 Mutation Or Intragenic Deletion Neurofibromatosis Peripheral Type Von Recklinghausen Syndrome Neurofibromatosis Type 1 Von Recklinghausen Neuropathy Nf1 - [Neurofibromatosis Type 1] Recklinghausen Disease
Anaplastic Astrocytoma	Grade Iii Astrocytoma Astrocytoma, Anaplastic Grade Iii Astrocytic Tumor
Meningioma, Familial	Meningioma Familial Meningioma Meningioma, Familial, Susceptibility To Meningeal Neoplasm Meningeal Neoplasms Meningiomas Meningioma, Nf2-Related, Somatic Meningioma, Sis-Related Meningothelial Cell Tumor Neoplasm Of The Meninges Primary Meningeal Tumor Familial Multiple Meningioma MNGMA Meningioma, Benign, No Icd-O Subtype Intracranial Meningioma Meningothelial Cell Neoplasm Supratentorial Meningioma Primary Neoplasm Of Spinal Meninges Benign Intracranial Meningioma Benign Meningioma Meningeal Tumours Meningeal Sarcoma Of Unspecified Site Meningothelial Sarcoma Of Unspecified Site
Rasopathy	Ras/Mitogen-Activated Protein Kinase Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07252	KIAA1549 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27791	Kiaa1549 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	KIAA1549	RGD	RGD:1306271
Canis familiaris	KIAA1549	VGNC	VGNC:42369
Bos taurus	KIAA1549	VGNC	VGNC:59342
Mus musculus	KIAA1549	MGD	MGI:2669829
Macaca mulatta	KIAA1549	VGNC	VGNC:73885
Others	KIAA1549	NCBI