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KIAA1549 KIAA1549 [ Homo sapiens (human) ]

Gene ID: 57670, updated on 22-Sep-2022

Summary

Official Symbol
KIAA1549provided by HGNC
Official Full Name
KIAA1549provided by HGNC
Primary source
HGNC:HGNC:22219
See related
Ensembl:ENSG00000122778 MIM:613344; AllianceGenome:HGNC:22219
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RP86
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]
Expression
Broad expression in brain (RPKM 3.0), kidney (RPKM 2.6) and 21 other tissues See more
Orthologs
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Genomic context

See KIAA1549 in Genome Data Viewer
Location:
7q34
Exon count:
20
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (138831381..138981389, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (140144273..140294292, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (138516126..138666135, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 pseudogene 2 Neighboring gene ATPase H+ transporting V0 subunit a4 Neighboring gene Sharpr-MPRA regulatory region 1249 Neighboring gene transmembrane protein 213 Neighboring gene Sharpr-MPRA regulatory region 5807 Neighboring gene RNA, U6 small nuclear 1272, pseudogene Neighboring gene Sharpr-MPRA regulatory region 8027 Neighboring gene uncharacterized LOC107986852 Neighboring gene zinc finger CCCH-type containing, antiviral 1 like

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ11731, FLJ38703, FLJ40644, KIAA1549

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in photoreceptor connecting cilium ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_032965.2 RefSeqGene

    Range
    4930..154938
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001164665.2NP_001158137.1  UPF0606 protein KIAA1549 isoform 2

    See identical proteins and their annotated locations for NP_001158137.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2), also known as the long-form, v2, represents the longer transcript and encodes the longer isoform (2).
    Source sequence(s)
    AC018663, AC083868, AM989469
    Consensus CDS
    CCDS56513.1
    UniProtKB/Swiss-Prot
    Q9H0M3, Q9HCM3
    Related
    ENSP00000416040.2, ENST00000422774.2
    Conserved Domains (1) summary
    pfam12877
    Location:10361702
    DUF3827; Domain of unknown function (DUF3827)
  2. NM_020910.3NP_065961.2  UPF0606 protein KIAA1549 isoform 1

    See identical proteins and their annotated locations for NP_065961.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1), also known as the long-form, v1, uses an alternate in-frame splice site in the 3' coding region, compared to variant 2. The resulting isoform (1) lacks an internal segment near the C-terminus, compared to isoform 2.
    Source sequence(s)
    AC018663, AC083868, AM989468
    Consensus CDS
    CCDS47723.2
    UniProtKB/Swiss-Prot
    Q9HCM3
    Related
    ENSP00000406661.1, ENST00000440172.5
    Conserved Domains (1) summary
    pfam12877
    Location:10361702
    DUF3827; Domain of unknown function (DUF3827)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    138831381..138981389 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    140144273..140294292 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)