KIAA1549 - KIAA1549 Gene

Homo sapiens

Also known as RP86

Gene ID: 57670 | Gene type: protein coding

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	Reference	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

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

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