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    SIGLECL1 SIGLEC family like 1 [ Homo sapiens (human) ]

    Gene ID: 284369, updated on 28-Oct-2024

    Summary

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    Official Symbol
    SIGLECL1provided by HGNC
    Official Full Name
    SIGLEC family like 1provided by HGNC
    Primary source
    HGNC:HGNC:26856
    See related
    Ensembl:ENSG00000179213 AllianceGenome:HGNC:26856
    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
    C19orf75; SIGLECP7; SIGLEC23P
    Summary
    Predicted to be located in membrane. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Restricted expression toward testis (RPKM 8.3) See more
    Orthologs
    mouse all
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    Genomic context

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    See SIGLECL1 in Genome Data Viewer
    Location:
    19q13.41
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (51246332..51269330)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (54334953..54357956)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (51749587..51772584)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985327 Neighboring gene uncharacterized LOC124904751 Neighboring gene microRNA 8074 Neighboring gene sialic acid binding Ig like lectin 22, pseudogene Neighboring gene CD33 molecule Neighboring gene long intergenic non-protein coding RNA 1872 Neighboring gene uncharacterized LOC107985326 Neighboring gene SIGLEC family like 1 pseudogene Neighboring gene sialic acid binding Ig like lectin 24, pseudogene

    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 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. CD33 and SIGLECL1 Immunoglobulin Superfamily Involved in Dementia. Rendina A, et al. J Neuropathol Exp Neurol, 2020 Aug 1. PMID 32647856
    2. A second uniquely human mutation affecting sialic acid biology. Angata T, et al. J Biol Chem, 2001 Oct 26. PMID 11546777
    3. Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium. Wu JH, et al. Circ Cardiovasc Genet, 2013 Apr. PMID 23362303, Free PMC Article
    4. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, 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 (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CD33 and SIGLECL1 Immunoglobulin Superfamily Involved in Dementia.
      Title: CD33 and SIGLECL1 Immunoglobulin Superfamily Involved in Dementia.
    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
    Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortiu
    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ40235, MGC161635, MGC161637

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    SIGLEC family-like protein 1
    Names
    sialic acid binding Ig-like lectin, pseudogene 7

    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_001308437.2 → NP_001295366.1  SIGLEC family-like protein 1 isoform 2

      See identical proteins and their annotated locations for NP_001295366.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and lacks an in-frame exon compared to variant 4. It encodes isoform 2, which is shorter than isoform 1. Variants 3 and 6 both encode the same isoform (2).
      Source sequence(s)
      AC063977
      Consensus CDS
      CCDS77341.1
      UniProtKB/TrEMBL
      B7ZLS6

    2. NM_001385465.1 → NP_001372394.1  SIGLEC family-like protein 1 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) represents the longest transcript and encodes the longer isoform (1). Variants 1, 4, and 5 all encode the same isoform (1).
      Source sequence(s)
      AC063977
      Consensus CDS
      CCDS12827.1
      UniProtKB/Swiss-Prot
      Q8N7X8
      Related
      ENSP00000469601.2, ENST00000601727.6
      Conserved Domains (2) summary
      cd00096
      Location:23 → 27
      Ig; Ig strand B [structural motif]
      cl11960
      Location:21 → 91
      Ig; Immunoglobulin domain

    3. NM_001385466.1 → NP_001372395.1  SIGLEC family-like protein 1 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 4. Variants 1, 4, and 5 all encode the same isoform (1).
      Source sequence(s)
      AC063977
      Consensus CDS
      CCDS12827.1
      UniProtKB/Swiss-Prot
      Q8N7X8
      Related
      ENSP00000480286.1, ENST00000614422.4
      Conserved Domains (2) summary
      cd00096
      Location:23 → 27
      Ig; Ig strand B [structural motif]
      cl11960
      Location:21 → 91
      Ig; Immunoglobulin domain

    4. NM_001385467.1 → NP_001372396.1  SIGLEC family-like protein 1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR and lacks an in-frame exon compared to variant 4. It encodes isoform 2, which is shorter than isoform 1. Variants 3 and 6 both encode the same isoform (2).
      Source sequence(s)
      AC063977
      Consensus CDS
      CCDS77341.1
      UniProtKB/TrEMBL
      B7ZLS6
      Related
      ENSP00000472702.1, ENST00000597824.1

    5. NM_173635.3 → NP_775906.1  SIGLEC family-like protein 1 isoform 1

      See identical proteins and their annotated locations for NP_775906.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 4. Variants 1, 4, and 5 all encode the same isoform (1).
      Source sequence(s)
      AC063977
      Consensus CDS
      CCDS12827.1
      UniProtKB/Swiss-Prot
      Q8N7X8
      Related
      ENSP00000321249.6, ENST00000316401.11
      Conserved Domains (2) summary
      cd00096
      Location:23 → 27
      Ig; Ig strand B [structural motif]
      cl11960
      Location:21 → 91
      Ig; Immunoglobulin domain

    RNA

    1. NR_102324.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks two alternate internal exons compared to variant 4. This variant is represented as non-coding because it lacks the entire coding region found in variant 4.
      Source sequence(s)
      AA454064, AC063977, AK097554, AK311591

    2. NR_169626.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC063977

    3. NR_169627.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC063977

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      51246332..51269330
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011526821.2 → XP_011525123.1  SIGLEC family-like protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011525123.1

      UniProtKB/Swiss-Prot
      Q8N7X8
      Conserved Domains (2) summary
      cd00096
      Location:23 → 27
      Ig; Ig strand B [structural motif]
      cl11960
      Location:21 → 91
      Ig; Immunoglobulin domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      54334953..54357956
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054320642.1 → XP_054176617.1  SIGLEC family-like protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q8N7X8
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N7X8.1 GenPept UniProtKB/Swiss-Prot:Q8N7X8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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