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    SCYL1 SCY1 like pseudokinase 1 [ Homo sapiens (human) ]

    Gene ID: 57410, updated on 7-Aug-2022

    Summary

    Official Symbol
    SCYL1provided by HGNC
    Official Full Name
    SCY1 like pseudokinase 1provided by HGNC
    Primary source
    HGNC:HGNC:14372
    See related
    Ensembl:ENSG00000142186 MIM:607982; AllianceGenome:HGNC:14372
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GKLP; NKTL; NTKL; P105; TAPK; TEIF; TRAP; HT019; SCAR21
    Summary
    This gene encodes a transcriptional regulator belonging to the SCY1-like family of kinase-like proteins. The protein has a divergent N-terminal kinase domain that is thought to be catalytically inactive, and can bind specific DNA sequences through its C-terminal domain. It activates transcription of the telomerase reverse transcriptase and DNA polymerase beta genes. The protein has been localized to the nucleus, and also to the cytoplasm and centrosomes during mitosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in testis (RPKM 23.2), ovary (RPKM 22.4) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SCYL1 in Genome Data Viewer
    Location:
    11q13.1
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    110 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (65525083..65538704)
    110 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (65519285..65532904)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (65292554..65306175)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene metastasis associated lung adenocarcinoma transcript 1 Neighboring gene TALAM1 transcript, MALAT1 antisense RNA Neighboring gene MALAT1-associated small cytoplasmic RNA Neighboring gene small nuclear ribonucleoprotein polypeptide G pseudogene 19 Neighboring gene Sharpr-MPRA regulatory region 4001 Neighboring gene latent transforming growth factor beta binding protein 3 Neighboring gene U7 small nuclear RNA

    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
    Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
    MedGen: C4225236 OMIM: 616719 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide association study of optic disc parameters.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC78454

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables cadherin binding HDA PubMed 
    enables protein tyrosine kinase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuron development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in peptidyl-tyrosine phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein localization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in spinal cord motor neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of COPI vesicle coat IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cis-Golgi network IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in endoplasmic reticulum-Golgi intermediate compartment IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane HDA PubMed 
    located_in microtubule organizing center IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    N-terminal kinase-like protein
    Names
    SCY1-like protein 1
    SCY1-like, kinase-like 1
    coated vesicle-associated kinase of 90 kDa
    likely ortholog of mouse N-terminal kinase-like protein
    telomerase regulation-associated protein
    telomerase transcriptional elements-interacting factor
    teratoma-associated tyrosine kinase

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_047172.1 RefSeqGene

      Range
      5019..18640
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001048218.2NP_001041683.1  N-terminal kinase-like protein isoform B

      See identical proteins and their annotated locations for NP_001041683.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (B), also known as 1, uses an alternate in-frame splice site in the 3' coding region, compared to variant A. It encodes isoform B, which is shorter than isoform A.
      Source sequence(s)
      AB051428, BP281963, BU728709
      Consensus CDS
      CCDS44646.1
      UniProtKB/Swiss-Prot
      Q96KG9
      Related
      ENSP00000408192.2, ENST00000420247.6
      Conserved Domains (2) summary
      cd14011
      Location:20296
      PK_SCY1_like; Pseudokinase domain of Scy1-like proteins
      sd00044
      Location:351372
      HEAT; HEAT repeat [structural motif]
    2. NM_020680.4NP_065731.3  N-terminal kinase-like protein isoform A

      See identical proteins and their annotated locations for NP_065731.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (A) represents the longer transcript and encodes the longer isoform (A).
      Source sequence(s)
      BC069233, BP281963
      Consensus CDS
      CCDS41672.1
      UniProtKB/Swiss-Prot
      Q96KG9, Q9NR53
      Related
      ENSP00000270176.5, ENST00000270176.10
      Conserved Domains (2) summary
      cd14011
      Location:20296
      PK_SCY1_like; Pseudokinase domain of Scy1-like proteins
      sd00044
      Location:351372
      HEAT; HEAT repeat [structural motif]

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      65525083..65538704
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005274120.5XP_005274177.1  N-terminal kinase-like protein isoform X3

      See identical proteins and their annotated locations for XP_005274177.1

      UniProtKB/Swiss-Prot
      Q96KG9
      Conserved Domains (2) summary
      cd14011
      Location:20296
      PK_SCY1_like; Pseudokinase domain of Scy1-like proteins
      sd00044
      Location:351372
      HEAT; HEAT repeat [structural motif]
    2. XM_005274118.5XP_005274175.1  N-terminal kinase-like protein isoform X1

      Conserved Domains (2) summary
      cd14011
      Location:20296
      PK_SCY1_like; Pseudokinase domain of Scy1-like proteins
      sd00044
      Location:351372
      HEAT; HEAT repeat [structural motif]
    3. XM_005274121.5XP_005274178.1  N-terminal kinase-like protein isoform X4

      UniProtKB/TrEMBL
      E9PK59
      Related
      ENSP00000431635.1, ENST00000525364.5
      Conserved Domains (2) summary
      cd14011
      Location:20296
      PK_SCY1_like; Pseudokinase domain of Scy1-like proteins
      sd00044
      Location:351372
      HEAT; HEAT repeat [structural motif]
    4. XM_017018031.3XP_016873520.1  N-terminal kinase-like protein isoform X5

    5. XM_017018030.3XP_016873519.1  N-terminal kinase-like protein isoform X2

    6. XM_047427316.1XP_047283272.1  N-terminal kinase-like protein isoform X6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      65519285..65532904
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)