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KIAA1755 KIAA1755 [ Homo sapiens (human) ]

Gene ID: 85449, updated on 3-Apr-2024

Summary

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Official Symbol
KIAA1755provided by HGNC
Official Full Name
KIAA1755provided by HGNC
Primary source
HGNC:HGNC:29372
See related
Ensembl:ENSG00000149633 AllianceGenome:HGNC:29372
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
quo
Expression
Broad expression in brain (RPKM 4.2), gall bladder (RPKM 3.0) and 20 other tissues See more
Orthologs
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Genomic context

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Location:
20q11.23
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (38210503..38260735, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (39936620..39986885, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (36838905..36889137, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904899 Neighboring gene Sharpr-MPRA regulatory region 2618 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:36740455-36740954 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:36770637-36771306 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:36771307-36771975 Neighboring gene transglutaminase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12897 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr20:36845917-36847116 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:36847531-36848032 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:36874844-36875344 Neighboring gene uncharacterized LOC124904900 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:36881371-36881963 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:36888895-36889394 Neighboring gene uncharacterized LOC149684 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12898 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:36915021-36915522 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:36926779-36927294 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr20:36962737-36963936 Neighboring gene bactericidal permeability increasing protein Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:36970603-36971380 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:36972161-36972938 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:36982312-36982872 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:36982873-36983432 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:36986777-36987278 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:36991245-36991414 Neighboring gene lipopolysaccharide binding protein

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Translating GWAS-identified loci for cardiac rhythm and rate using an in vivo image- and CRISPR/Cas9-based approach. von der Heyde B, et al. Sci Rep, 2020 Jul 16. PMID 32678143, Free PMC Article
  2. Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. den Hoed M, et al. Nat Genet, 2013 Jun. PMID 23583979, Free PMC Article
  3. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 2000 Dec 31. PMID 11214970
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614, Free PMC Article
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

See all (7) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables guanyl-nucleotide exchange factor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in axon guidance IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in extrinsic component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
uncharacterized protein KIAA1755
Names
RP5-1054A22.3
quattro homolog

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_053038.1 RefSeqGene

    Range
    5038..55270
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001029864.2 → NP_001025035.1  uncharacterized protein KIAA1755 isoform a

    See identical proteins and their annotated locations for NP_001025035.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a).
    Source sequence(s)
    AL031651
    Consensus CDS
    CCDS33467.1
    UniProtKB/Swiss-Prot
    Q5JYT7, Q9C0A8
    Related
    ENSP00000279024.4, ENST00000279024.9
    Conserved Domains (1) summary
    pfam15450
    Location:675 → 1043
    CCDC154; Coiled-coil domain-containing protein 154

  2. NM_001348708.2 → NP_001335637.1  uncharacterized protein KIAA1755 isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice junction and lacks two alternate in-frame exons 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)
    AL031651

RNA

  1. NR_145960.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks three alternate exons compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
    Source sequence(s)
    AL031651

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    38210503..38260735 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024452013.2 → XP_024307781.1  uncharacterized protein KIAA1755 isoform X8

    Conserved Domains (1) summary
    pfam15450
    Location:328 → 679
    CCDC154; Coiled-coil domain-containing protein 154

  2. XM_024452012.2 → XP_024307780.1  uncharacterized protein KIAA1755 isoform X6

    Conserved Domains (1) summary
    pfam15450
    Location:394 → 745
    CCDC154; Coiled-coil domain-containing protein 154

  3. XM_024452008.2 → XP_024307776.1  uncharacterized protein KIAA1755 isoform X1

    Conserved Domains (1) summary
    pfam15450
    Location:662 → 1030
    CCDC154; Coiled-coil domain-containing protein 154

  4. XM_024452010.2 → XP_024307778.1  uncharacterized protein KIAA1755 isoform X3

  5. XM_024452009.2 → XP_024307777.1  uncharacterized protein KIAA1755 isoform X2

  6. XM_047440570.1 → XP_047296526.1  uncharacterized protein KIAA1755 isoform X5

  7. XM_024452011.2 → XP_024307779.1  uncharacterized protein KIAA1755 isoform X4

  8. XM_047440575.1 → XP_047296531.1  uncharacterized protein KIAA1755 isoform X12

  9. XM_047440572.1 → XP_047296528.1  uncharacterized protein KIAA1755 isoform X9

  10. XM_047440571.1 → XP_047296527.1  uncharacterized protein KIAA1755 isoform X7

  11. XM_047440574.1 → XP_047296530.1  uncharacterized protein KIAA1755 isoform X11

  12. XM_047440573.1 → XP_047296529.1  uncharacterized protein KIAA1755 isoform X10

  13. XM_024452015.2 → XP_024307783.1  uncharacterized protein KIAA1755 isoform X14

    UniProtKB/TrEMBL
    A0A087X0C1
    Related
    ENSP00000483264.1, ENST00000496900.2

  14. XM_024452014.2 → XP_024307782.1  uncharacterized protein KIAA1755 isoform X13

    UniProtKB/TrEMBL
    A0A087X0C1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    39936620..39986885 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054324184.1 → XP_054180159.1  uncharacterized protein KIAA1755 isoform X8

  2. XM_054324182.1 → XP_054180157.1  uncharacterized protein KIAA1755 isoform X6

  3. XM_054324177.1 → XP_054180152.1  uncharacterized protein KIAA1755 isoform X1

  4. XM_054324179.1 → XP_054180154.1  uncharacterized protein KIAA1755 isoform X3

  5. XM_054324178.1 → XP_054180153.1  uncharacterized protein KIAA1755 isoform X2

  6. XM_054324181.1 → XP_054180156.1  uncharacterized protein KIAA1755 isoform X5

  7. XM_054324180.1 → XP_054180155.1  uncharacterized protein KIAA1755 isoform X4

  8. XM_054324188.1 → XP_054180163.1  uncharacterized protein KIAA1755 isoform X12

  9. XM_054324185.1 → XP_054180160.1  uncharacterized protein KIAA1755 isoform X9

  10. XM_054324183.1 → XP_054180158.1  uncharacterized protein KIAA1755 isoform X7

  11. XM_054324187.1 → XP_054180162.1  uncharacterized protein KIAA1755 isoform X11

  12. XM_054324186.1 → XP_054180161.1  uncharacterized protein KIAA1755 isoform X10

  13. XM_054324190.1 → XP_054180165.1  uncharacterized protein KIAA1755 isoform X14

  14. XM_054324189.1 → XP_054180164.1  uncharacterized protein KIAA1755 isoform X13

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5JYT7.2 GenPept UniProtKB/Swiss-Prot:Q5JYT7

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