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KIAA0513 KIAA0513 [ Homo sapiens (human) ]

Gene ID: 9764, updated on 6-May-2021

Summary

Official Symbol
KIAA0513provided by HGNC
Official Full Name
KIAA0513provided by HGNC
Primary source
HGNC:HGNC:29058
See related
Ensembl:ENSG00000135709 MIM:611675
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
Expression
Broad expression in brain (RPKM 26.5), adrenal (RPKM 3.5) and 14 other tissues See more
Orthologs
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Genomic context

See KIAA0513 in Genome Data Viewer
Location:
16q24.1
Exon count:
15
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (85027795..85094230)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (85061401..85127836)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2176 Neighboring gene zinc finger DHHC-type palmitoyltransferase 7 Neighboring gene uncharacterized LOC105371380 Neighboring gene CBY1 interacting BAR domain containing 2 Neighboring gene uncharacterized LOC105371381

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?

Phenotypes

Associated conditions

Description Tests
Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
uncharacterized protein KIAA0513

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.

mRNA and Protein(s)

  1. NM_001286565.1NP_001273494.1  uncharacterized protein KIAA0513 isoform a

    See identical proteins and their annotated locations for NP_001273494.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1 and 2 both encode the same isoform (a).
    Source sequence(s)
    AB011085, AC026469, AF055005
    Consensus CDS
    CCDS32499.1
    UniProtKB/Swiss-Prot
    O60268
    Related
    ENSP00000457408.1, ENST00000566428.5
    Conserved Domains (1) summary
    pfam12335
    Location:290362
    SBF2; Myotubularin protein
  2. NM_001286566.2NP_001273495.1  uncharacterized protein KIAA0513 isoform b

    See identical proteins and their annotated locations for NP_001273495.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    AC026469, AF055005, AK299892
    Consensus CDS
    CCDS67091.1
    UniProtKB/Swiss-Prot
    O60268
    Related
    ENSP00000446439.1, ENST00000538274.5
    Conserved Domains (1) summary
    pfam12335
    Location:290332
    SBF2; Myotubularin protein
  3. NM_001297766.2NP_001284695.1  uncharacterized protein KIAA0513 isoform c

    See identical proteins and their annotated locations for NP_001284695.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' and 3' UTRs and has multiple coding region differences, compared to variant 1. The resulting protein (isoform c) has a distinct C-terminus and is shorter than isoform a.
    Source sequence(s)
    AC092341, BC030280
    Consensus CDS
    CCDS73919.1
    UniProtKB/Swiss-Prot
    O60268
    Related
    ENSP00000455544.1, ENST00000567328.5
  4. NM_001388359.1NP_001375288.1  uncharacterized protein KIAA0513 isoform a

    Status: VALIDATED

    Source sequence(s)
    AC026469, AC092341
  5. NM_014732.4NP_055547.1  uncharacterized protein KIAA0513 isoform a

    See identical proteins and their annotated locations for NP_055547.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same isoform (a).
    Source sequence(s)
    AB011085, AC026469, AF055005, AK299892
    Consensus CDS
    CCDS32499.1
    UniProtKB/Swiss-Prot
    O60268
    Related
    ENSP00000258180.3, ENST00000258180.7
    Conserved Domains (1) summary
    pfam12335
    Location:290362
    SBF2; Myotubularin protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210226

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    85027795..85094230
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017023912.1XP_016879401.1  uncharacterized protein KIAA0513 isoform X1

    UniProtKB/Swiss-Prot
    O60268
    Conserved Domains (1) summary
    pfam12335
    Location:290362
    SBF2; Myotubularin protein
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