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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
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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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