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KANTR KANTR integral membrane protein [ Homo sapiens (human) ]

Gene ID: 102723508, updated on 10-Mar-2024

Summary

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Official Symbol
KANTRprovided by HGNC
Official Full Name
KANTR integral membrane proteinprovided by HGNC
Primary source
HGNC:HGNC:49510
See related
Ensembl:ENSG00000232593 MIM:301019; AllianceGenome:HGNC:49510
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
Spasm; LINC01155
Summary
This gene is thought to produce a functional long non-coding RNA. Mutation of this locus in mouse causes tremors and spastic movements, suggesting a role for this gene in neurological development or function. [provided by RefSeq, Feb 2015]
Expression
Low expression observed in reference dataset See more
Orthologs
mouse all
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Genomic context

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Location:
Xp11.22
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (53094142..53147921)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (52380378..52434199)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (53123324..53177103)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene G protein-coupled receptor 173 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:53100667-53101168 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29651 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20852 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20853 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20854 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:53122416-53123240 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29653 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20855 Neighboring gene TSPY like 2 Neighboring gene RNA, U7 small nuclear 37 pseudogene Neighboring gene actin gamma 1 pseudogene 10 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:53192545-53193079 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20856 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29654 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29655 Neighboring gene lysine demethylase 5C Neighboring gene microRNA 6895 Neighboring gene microRNA 6894

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. High-throughput annotation of full-length long noncoding RNAs with capture long-read sequencing. Lagarde J, et al. Nat Genet, 2017 Dec. PMID 29106417, Free PMC Article
  2. Multiple knockout mouse models reveal lincRNAs are required for life and brain development. Sauvageau M, et al. Elife, 2013 Dec 31. PMID 24381249, Free PMC Article
  3. VIRMA mediates preferential m(6)A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. Yue Y, et al. Cell Discov, 2018. PMID 29507755, Free PMC Article

GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Clone Names

  • DKFZp313M1330

General protein information

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Preferred Names
KDM5C adjacent transcript
Names
KDM5C adjacent non-coding transcript
long intergenic non-protein coding RNA 1155

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_001397448.1 → NP_001384377.1  KDM5C adjacent transcript

    Status: VALIDATED

    Source sequence(s)
    AL139396, AL591212
    Consensus CDS
    CCDS94609.1
    UniProtKB/Swiss-Prot
    A0A1W2PQU2
    Related
    ENSP00000492284.1, ENST00000604062.7

  2. NM_001397450.1 → NP_001384379.1  KDM5C adjacent transcript

    Status: VALIDATED

    Source sequence(s)
    AL139396, AL591212
    Consensus CDS
    CCDS94609.1
    UniProtKB/Swiss-Prot
    A0A1W2PQU2

  3. NM_001397451.1 → NP_001384380.1  KDM5C adjacent transcript

    Status: VALIDATED

    Source sequence(s)
    AL139396, AL591212
    Consensus CDS
    CCDS94609.1
    UniProtKB/Swiss-Prot
    A0A1W2PQU2

  4. NM_001397452.1 → NP_001384381.1  KDM5C adjacent transcript

    Status: VALIDATED

    Source sequence(s)
    AL139396, AL591212
    Consensus CDS
    CCDS94609.1
    UniProtKB/Swiss-Prot
    A0A1W2PQU2

  5. NM_001397453.1 → NP_001384382.1  KDM5C adjacent transcript

    Status: VALIDATED

    Source sequence(s)
    AL139396, AL591212
    Consensus CDS
    CCDS94609.1
    UniProtKB/Swiss-Prot
    A0A1W2PQU2

RNA

  1. NR_110456.3 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL139396, AL591212

  2. NR_145973.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL139396, AL591212

  3. NR_145974.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL139396, AL591212

  4. NR_145975.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL139396, AL591212

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_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    53094142..53147921
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    52380378..52434199
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NR_145976.1: Suppressed sequence

    Description
    NR_145976.1: This RefSeq was removed because it is now thought that this gene does encode a protein.

  2. NR_145977.1: Suppressed sequence

    Description
    NR_145977.1: This RefSeq was removed because it is now thought that this gene does encode a protein.

  3. NR_145978.1: Suppressed sequence

    Description
    NR_145978.1: This RefSeq was removed because it is now thought that this gene does encode a protein.

  4. NR_145979.1: Suppressed sequence

    Description
    NR_145979.1: This RefSeq was removed because it is now thought that this gene does encode a protein.

  5. NR_145980.1: Suppressed sequence

    Description
    NR_145980.1: This RefSeq was removed because it is now thought that this gene does encode a protein.
Nucleotide Protein
Heading Accession and Version

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